@article {pmid31405996,
year = {2019},
author = {Weir, BS},
title = {The Summer Institute in Statistical Genetics.},
journal = {Genetics},
volume = {212},
number = {4},
pages = {955-957},
doi = {10.1534/genetics.119.302506},
pmid = {31405996},
issn = {1943-2631},
support = {R01 GM075091/GM/NIGMS NIH HHS/United States ; R25 GM059733/GM/NIGMS NIH HHS/United States ; },
mesh = {*Awards and Prizes ; Genetics/*history ; History, 21st Century ; Statistics as Topic/*history ; United States ; },
abstract = {The Elizabeth W. Jones Award for Excellence in Education recognizes an individual or group that has had significant, sustained impact on genetics education at any level, from K-12 through graduate school and beyond. Bruce Weir (University of Washington) is the 2019 recipient in recognition of his work training thousands of researchers in the rigorous use of statistical analysis methods for genetic and genomic data. His contributions fall into three categories: the acclaimed Summer Institute in Statistical Genetics, which has been held continuously for 23 years and has trained > 10,000 researchers worldwide; the popular graduate-level textbook Genetic Data Analysis; and the training of a growing number of forensic geneticists during the rise of DNA evidence in courts around the world.},
}

*Awards and Prizes
Genetics/*history
History, 21st Century
Statistics as Topic/*history
United States

@article {pmid31098759,
year = {2019},
author = {McConwell, AK},
title = {Walking the Line: A Tempered View of Contingency and Convergence in Life's History : Review of Jonathan B. Losos: Improbable Destinies: Fate, Chance, and the Future of Evolution (2017).},
journal = {Acta biotheoretica},
volume = {67},
number = {3},
pages = {253-264},
doi = {10.1007/s10441-019-09347-x},
pmid = {31098759},
issn = {1572-8358},
mesh = {*Adaptation, Biological ; *Biological Evolution ; Genetics/*history ; History, 21st Century ; Humans ; *Models, Theoretical ; *Selection, Genetic ; United States ; },
}

*Adaptation, Biological
*Biological Evolution
Genetics/*history
History, 21st Century
Humans
*Models, Theoretical
*Selection, Genetic
United States

@article {pmid30783691,
year = {2019},
author = {Nemec, B and Zimmer, F},
title = {[The Emergence of Genetic Prenatal Diagnosis from Environmental Research : On a Methodological Shift in Prevention Around 1970].},
journal = {NTM},
volume = {27},
number = {1},
pages = {39-78},
doi = {10.1007/s00048-019-00207-w},
pmid = {30783691},
issn = {1420-9144},
mesh = {Environmental Exposure/adverse effects/history ; Environmental Science/*history ; Genetic Diseases, Inborn/genetics/*history/prevention & control ; Genetic Research/*history ; History, 20th Century ; Humans ; Mutagenesis ; Prenatal Diagnosis/*history ; },
abstract = {The history of genetic prenatal diagnosis has so far been analyzed as a part of the history of human genetics and its reorientation as a clinical and laboratory-based scientific discipline in the second half of the 20th century. Based on new source material, we show in this paper that the interest in prenatal diagnosis also arose within the context of research on mutagenicity (the capacity to induce mutations) that was concerned with environmental dangers to human health. Our analysis of the debates around the establishment of the German Research Foundation's (DFG) research program "Prenatal Diagnosis of Genetic Defects" reveals that amniocentesis was introduced in Western Germany by a group of scientists working on the dangers for the human organism caused by radiation, pharmaceuticals, and other substances and consumer goods. We argue that, in a period of growing environmental concern, the support of prenatal diagnosis aimed to close a perceived gap in the prevention of environmental mutagenicity, i. e. genetic anomalies induced by environmental factors. The expected financing of prenatal diagnosis by health insurance in the course of the reform of abortion rights was used as another argument for the new technology's introduction as a "defensive measure". Only in a second step did changes in research structures, but most importantly experience from gynecological practice lead to a reframing of the technology as a tool for the diagnosis and prevention of mostly genetic or spontaneously occurring anomalies. Eventually, prenatal diagnosis, as it became routinely used in Western Germany from the early 1980s onward, had little to do with "environmental" questions. This case study of the early history of genetic prenatal diagnosis analyzes the still poorly researched relationship between research in human genetics, environmental research and medical practice. Furthermore, we aim to shed new light on a shift in perspective in prevention around 1970 that has so far been described in different contexts.},
}

Environmental Exposure/adverse effects/history
Environmental Science/*history
Genetic Diseases, Inborn/genetics/*history/prevention & control
Genetic Research/*history
History, 20th Century
Humans
Mutagenesis
Prenatal Diagnosis/*history

@article {pmid31080177,
year = {2019},
author = {Cook-Deegan, R and McCormack, SJ},
title = {LeRoy Walters's Legacy of Bioethics in Genetics and Biotechnology Policy.},
journal = {Kennedy Institute of Ethics journal},
volume = {29},
number = {1},
pages = {51-66},
doi = {10.1353/ken.2019.0010},
pmid = {31080177},
issn = {1086-3249},
mesh = {Academies and Institutes/ethics ; Advisory Committees/ethics/history/legislation & jurisprudence ; *Bioethical Issues ; *Bioethics ; Biotechnology/*ethics/history/trends ; DNA, Recombinant/history ; Federal Government ; Genetic Therapy/ethics/history/legislation & jurisprudence ; Genetics/*ethics/legislation & jurisprudence ; Guidelines as Topic ; History, 20th Century ; History, 21st Century ; Human Genome Project/ethics/history/legislation & jurisprudence ; Humans ; Legislation as Topic ; Male ; Public Policy/history/legislation & jurisprudence ; United States ; },
abstract = {LeRoy Walters was at the center of public debate about emerging biological technologies, even as "biotechnology" began to take root. He chaired advisory panels on human gene therapy, the human genome project, and patenting DNA for the congressional Office of Technology Assessment. He chaired the subcommittee on Human Gene Therapy for NIH's Recombinant DNA Advisory Committee. He was also a regular advisor to Congress, the executive branch, and academics concerned about policy governing emerging biotechnologies. In large part due to Prof. Walters, the Kennedy Institute of Ethics was one of the primary sources of talent in bioethics, including staff who populated policy and science agencies dealing with reproductive and genetic technologies, such as NIH and OTA. His legacy lies not only in his writings, but in those people, documents, and discussions that guided biotechnology policy in the United States for three decades.},
}

Academies and Institutes/ethics
Advisory Committees/ethics/history/legislation & jurisprudence
*Bioethical Issues
*Bioethics
Biotechnology/*ethics/history/trends
DNA, Recombinant/history
Federal Government
Genetic Therapy/ethics/history/legislation & jurisprudence
Genetics/*ethics/legislation & jurisprudence
Guidelines as Topic
History, 20th Century
History, 21st Century
Human Genome Project/ethics/history/legislation & jurisprudence
Humans
Legislation as Topic
Male
Public Policy/history/legislation & jurisprudence
United States

@article {pmid31167898,
year = {2019},
author = {Andrew, DJ and Chen, EH and Manoli, DS and Ryner, LC and Arbeitman, MN},
title = {Sex and the Single Fly: A Perspective on the Career of Bruce S. Baker.},
journal = {Genetics},
volume = {212},
number = {2},
pages = {365-376},
doi = {10.1534/genetics.119.301928},
pmid = {31167898},
issn = {1943-2631},
support = {R01 DE013899/DE/NIDCR NIH HHS/United States ; /HHMI/Howard Hughes Medical Institute/United States ; },
mesh = {Animals ; Dosage Compensation, Genetic ; Drosophila/*genetics ; Evolution, Molecular ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Mentors ; Sex Determination Processes/*genetics ; Sexual Behavior ; },
abstract = {Bruce Baker, a preeminent Drosophila geneticist who made fundamental contributions to our understanding of the molecular genetic basis of sex differences, passed away July 1, 2018 at the age of 72. Members of Bruce's laboratory remember him as an intensely dedicated, rigorous, creative, deep-thinking, and fearless scientist. His trainees also remember his strong commitment to teaching students at every level. Bruce's career studying sex differences had three major epochs, where the laboratory was focused on: (1) sex determination and dosage compensation, (2) the development of sex-specific structures, and (3) the molecular genetic basis for sex differences in behavior. Several members of the Baker laboratory have come together to honor Bruce by highlighting some of the laboratory's major scientific contributions in these areas.},
}

Animals
Dosage Compensation, Genetic
Drosophila/*genetics
Evolution, Molecular
Genetics/*history
History, 20th Century
History, 21st Century
Mentors
Sex Determination Processes/*genetics
Sexual Behavior

@article {pmid31167897,
year = {2019},
author = {L Hartl, D},
title = {Q & A with Daniel L. Hartl, Recipient of the 2019 Thomas Hunt Morgan Medal.},
journal = {Genetics},
volume = {212},
number = {2},
pages = {361-363},
doi = {10.1534/genetics.119.302260},
pmid = {31167897},
issn = {1943-2631},
mesh = {*Awards and Prizes ; Biometry ; Cytological Techniques/history ; Evolution, Molecular ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Mentors ; Societies, Scientific ; United States ; },
abstract = {The Genetics Society of America's Thomas Hunt Morgan Medal honors researchers for lifetime achievement in genetics. The recipient of the 2019 Morgan Medal is Daniel Hartl of Harvard University, who is recognized for his influential and diverse contributions to genetics research. The unifying theme of Hartl's broad impacts on transmission, population, evolutionary, and medical genetics has been the combination of theoretical insights with cutting-edge experimental techniques. Some of his contributions include revealing the genetics of segregation distortion, developing statistical frameworks for estimating the effects of selection, application of these frameworks to natural and experimental populations, discovery of the mariner transposon and its influence on genome evolution, insights into the evolution of gene expression differences, and modeling the evolution of malaria parasite populations. Hartl is also known as a supportive mentor who has trained many prominent geneticists that continue to shape the field.},
}

*Awards and Prizes
Biometry
Cytological Techniques/history
Evolution, Molecular
Genetics/*history
History, 20th Century
History, 21st Century
Mentors
Societies, Scientific
United States

@article {pmid31182939,
year = {2019},
author = {Soriano, V},
title = {Jérôme Lejeune passed away 25 years ago.},
journal = {Hereditas},
volume = {156},
number = {},
pages = {18},
doi = {10.1186/s41065-019-0094-8},
pmid = {31182939},
issn = {1601-5223},
mesh = {Gene Editing ; Genetic Diseases, Inborn/*diagnosis/*genetics/history/therapy ; Genetic Testing/ethics/methods ; Genetic Therapy/ethics/methods ; History, 20th Century ; *Human Genetics/ethics/history ; Humans ; },
}

Gene Editing
Genetic Diseases, Inborn/*diagnosis/*genetics/history/therapy
Genetic Testing/ethics/methods
Genetic Therapy/ethics/methods
History, 20th Century
*Human Genetics/ethics/history
Humans

@article {pmid28497705,
year = {2017},
author = {Santesmases, MJ},
title = {Circulating biomedical images: Bodies and chromosomes in the post-eugenic era.},
journal = {History of science; an annual review of literature, research and teaching},
volume = {55},
number = {4},
pages = {395-430},
doi = {10.1177/0073275317701145},
pmid = {28497705},
issn = {0073-2753},
mesh = {Chromosomes ; *Cytogenetics/history ; *Eugenics ; Female ; Genetics, Medical ; *Heredity ; History, 20th Century ; Humans ; Pregnancy ; Pregnant Women ; *Social Conditions ; },
abstract = {This essay presents the early days of human cytogenetics, from the late 1950s until the mid 1970s, as a historical series of images. I propose a chronology moving from photographs of bodies to chromosome sets, to be joined by ultrasound images, which provided a return to bodies, by then focused on the unborn. Images carried ontological significance and, as I will argue, are principal characters in the history of human cytogenetics. Inspired by the historiography of heredity and genetics, studies on visual cultures, the conceptualization of circulation, and the sociology of pregnancy, I suggest that cytogenetics, through its focus on pregnancy, pregnant women, and their offspring, found strategic living materials that stabilized human chromosome studies as a biomedical, post-eugenics practice. The historicity of each path displays a wide circulation of objects, tools, and methods that condensed on images that shared in the centuries-old visual expertise that medicine and botany had manufactured.},
}

Chromosomes
*Cytogenetics/history
*Eugenics
Female
Genetics, Medical
*Heredity
History, 20th Century
Humans
Pregnancy
Pregnant Women
*Social Conditions

@article {pmid30849326,
year = {2019},
author = {Lupski, JR},
title = {2018 Victor A. McKusick Leadership Award: Molecular Mechanisms for Genomic and Chromosomal Rearrangements.},
journal = {American journal of human genetics},
volume = {104},
number = {3},
pages = {391-406},
doi = {10.1016/j.ajhg.2018.12.018},
pmid = {30849326},
issn = {1537-6605},
mesh = {*Awards and Prizes ; *Chromosome Aberrations ; *Genetic Variation ; Genetics, Medical/*history ; *Genome, Human ; *Genomics ; History, 21st Century ; Humans ; *Leadership ; },
}

*Awards and Prizes
*Chromosome Aberrations
*Genetic Variation
Genetics, Medical/*history
*Genome, Human
*Genomics
History, 21st Century
Humans
*Leadership

@article {pmid30849324,
year = {2019},
author = {Kathiresan, S},
title = {2018 Curt Stern Award Address.},
journal = {American journal of human genetics},
volume = {104},
number = {3},
pages = {384-388},
doi = {10.1016/j.ajhg.2019.02.011},
pmid = {30849324},
issn = {1537-6605},
mesh = {*Awards and Prizes ; *Genetic Predisposition to Disease ; Genetics, Medical/*history ; History, 21st Century ; Humans ; Myocardial Infarction/epidemiology/*genetics/*prevention & control ; United States/epidemiology ; },
abstract = {This article is based on the address given by the author at the meeting of the American Society of Human Genetics (ASHG) on October 18, 2018, in San Diego, California. The audio of the original address can be found at the ASHG website.},
}

*Awards and Prizes
*Genetic Predisposition to Disease
Genetics, Medical/*history
History, 21st Century
Humans
Myocardial Infarction/epidemiology/*genetics/*prevention & control
United States/epidemiology

@article {pmid30849323,
year = {2019},
author = {Lander, ES},
title = {2018 William Allan Award: Discovering the Genes for Common Disease: From Families to Populations.},
journal = {American journal of human genetics},
volume = {104},
number = {3},
pages = {375-383},
doi = {10.1016/j.ajhg.2019.01.016},
pmid = {30849323},
issn = {1537-6605},
mesh = {*Awards and Prizes ; Disease/*genetics ; Family ; *Genetic Predisposition to Disease ; Genetics, Medical/*history ; *Genetics, Population ; *Genome, Human ; Genome-Wide Association Study ; History, 20th Century ; History, 21st Century ; Humans ; },
}

*Awards and Prizes
Disease/*genetics
Family
*Genetic Predisposition to Disease
Genetics, Medical/*history
*Genetics, Population
*Genome, Human
Genome-Wide Association Study
History, 20th Century
History, 21st Century
Humans

@article {pmid31204695,
year = {2019},
author = {Szabó, AT and Poczai, P},
title = {The emergence of genetics from Festetics' sheep through Mendel's peas to Bateson's chickens.},
journal = {Journal of genetics},
volume = {98},
number = {2},
pages = {},
pmid = {31204695},
issn = {0973-7731},
mesh = {Animals ; Breeding ; Chickens/*genetics ; Genetics/*history ; Genetics, Population ; History, 17th Century ; History, 18th Century ; History, 19th Century ; History, 20th Century ; Humans ; Peas/*genetics ; Sheep/*genetics ; },
abstract = {It is now common knowledge-but also a misbelief-that in 1905 William Bateson coined the term 'genetics' for the first time in his letter to Adam Sedgwick. This important term was already formulated 81 years ago in a paper written by a sheepbreeding noble called Imre (Emmerich) Festetics, who still remains somewhat mysterious even today. The articles written by Festetics summarized the results of a series of lasting and elegant breeding experiments he had conducted on his own property. Selecting the best rams, Festetics had painstakingly crossed and backcrossed his best sheep to reach better wool quality. These experiments later turned out to reveal a better understanding of inheritance outlining genetics as a new branch of natural sciences.},
}

Animals
Breeding
Chickens/*genetics
Genetics/*history
Genetics, Population
History, 17th Century
History, 18th Century
History, 19th Century
History, 20th Century
Humans
Peas/*genetics
Sheep/*genetics

@article {pmid30844063,
year = {2019},
author = {Dujon, B},
title = {My route to the intimacy of genomes.},
journal = {FEMS yeast research},
volume = {19},
number = {3},
pages = {},
doi = {10.1093/femsyr/foz023},
pmid = {30844063},
issn = {1567-1364},
mesh = {Genomics/*history ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; Recombination, Genetic ; Research ; Yeasts/*genetics ; },
abstract = {Being invited by a prestigious journal to write the retrospective of one's life is first a great honor, and then a chore when starting to do it. These feelings did not spare me. But trying to recall my past to the best of my memory, I learned how lucky I was to have been born to a generation that witnessed so many scientific discoveries. There is little in common between the genetic courses I taught recently and those that I received more than 50 years ago. Thinking that a tiny bit of this fantastic evolution might come from my accidental encountering with yeasts is a stunning experience. I wish the same for the new generation.},
}

Genomics/*history
History, 20th Century
History, 21st Century
Molecular Biology/*history
Recombination, Genetic
Research
Yeasts/*genetics

@article {pmid31050681,
year = {2019},
author = {Bi, K and Linderoth, T and Singhal, S and Vanderpool, D and Patton, JL and Nielsen, R and Moritz, C and Good, JM},
title = {Temporal genomic contrasts reveal rapid evolutionary responses in an alpine mammal during recent climate change.},
journal = {PLoS genetics},
volume = {15},
number = {5},
pages = {e1008119},
doi = {10.1371/journal.pgen.1008119},
pmid = {31050681},
issn = {1553-7404},
support = {T32 HG000047/HG/NHGRI NIH HHS/United States ; S10 RR029668/RR/NCRR NIH HHS/United States ; S10 RR027303/RR/NCRR NIH HHS/United States ; R01 HD073439/HD/NICHD NIH HHS/United States ; R01 GM098536/GM/NIGMS NIH HHS/United States ; },
mesh = {Adaptation, Physiological/*genetics ; Alleles ; Altitude ; Animal Distribution ; Animals ; Arachidonate 15-Lipoxygenase/*genetics ; Biological Evolution ; Climate Change ; Gene Expression ; Gene Flow ; Gene Frequency ; *Genetics, Population/history ; History, 20th Century ; History, 21st Century ; Hypoxia/genetics ; Sciuridae/classification/*genetics ; Species Specificity ; Whole Exome Sequencing ; },
abstract = {Many species have experienced dramatic changes in their abundance and distribution during recent climate change, but it is often unclear whether such ecological responses are accompanied by evolutionary change. We used targeted exon sequencing of 294 museum specimens (160 historic, 134 modern) to generate independent temporal genomic contrasts spanning a century of climate change (1911-2012) for two co-distributed chipmunk species: an endemic alpine specialist (Tamias alpinus) undergoing severe range contraction and a stable mid-elevation species (T. speciosus). Using a novel analytical approach, we reconstructed the demographic histories of these populations and tested for evidence of recent positive directional selection. Only the retracting species showed substantial population genetic fragmentation through time and this was coupled with positive selection and substantial shifts in allele frequencies at a gene, Alox15, involved in regulation of inflammation and response to hypoxia. However, these rapid population and gene-level responses were not detected in an analogous temporal contrast from another area where T. alpinus has also undergone severe range contraction. Collectively, these results highlight that evolutionary responses may be variable and context dependent across populations, even when they show seemingly synchronous ecological shifts. Our results demonstrate that temporal genomic contrasts can be used to detect very recent evolutionary responses within and among contemporary populations, even in the face of complex demographic changes. Given the wealth of specimens archived in natural history museums, comparative analyses of temporal population genomic data have the potential to improve our understanding of recent and ongoing evolutionary responses to rapidly changing environments.},
}

Adaptation, Physiological/*genetics
Alleles
Altitude
Animal Distribution
Animals
Arachidonate 15-Lipoxygenase/*genetics
Biological Evolution
Climate Change
Gene Expression
Gene Flow
Gene Frequency
*Genetics, Population/history
History, 20th Century
History, 21st Century
Hypoxia/genetics
Sciuridae/classification/*genetics
Species Specificity
Whole Exome Sequencing

@article {pmid31180051,
year = {2019},
author = {DI Felice, F and Micheli, G and Camilloni, G},
title = {Restriction enzymes and their use in molecular biology: An overview.},
journal = {Journal of biosciences},
volume = {44},
number = {2},
pages = {},
pmid = {31180051},
issn = {0973-7138},
mesh = {CRISPR-Cas Systems ; Chromatin/chemistry/metabolism ; Chromosome Mapping/*history/methods ; Cloning, Molecular/*methods ; DNA/chemistry/genetics/*history/metabolism ; DNA Methylation ; DNA Restriction Enzymes/genetics/*history/metabolism ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history/methods ; Nobel Prize ; Nucleotide Mapping/*history/methods ; Transcription Activator-Like Effector Nucleases/genetics/history/metabolism ; },
abstract = {Restriction enzymes have been identified in the early 1950s of the past century and have quickly become key players in the molecular biology of DNA. Forty years ago, the scientists whose pioneering work had explored the activity and sequence specificity of these enzymes, contributing to the definition of their enormous potential as tools for DNA characterization, mapping and manipulation, were awarded the Nobel Prize. In this short review, we celebrate the history of these enzymes in the light of their many different uses, as these proteins have accompanied the history of DNA for over 50 years representing active witnesses of major steps in the field.},
}

CRISPR-Cas Systems
Chromatin/chemistry/metabolism
Chromosome Mapping/*history/methods
Cloning, Molecular/*methods
DNA/chemistry/genetics/*history/metabolism
DNA Methylation
DNA Restriction Enzymes/genetics/*history/metabolism
History, 20th Century
History, 21st Century
Humans
Molecular Biology/*history/methods
Nobel Prize
Nucleotide Mapping/*history/methods
Transcription Activator-Like Effector Nucleases/genetics/history/metabolism

@article {pmid30798827,
year = {2019},
author = {Giampietro, PF},
title = {50 Years Ago in The Journal of Pediatrics: A Chromosome Survey of 2400 Normal Newborn Infants.},
journal = {The Journal of pediatrics},
volume = {206},
number = {},
pages = {25},
doi = {10.1016/j.jpeds.2018.09.001},
pmid = {30798827},
issn = {1097-6833},
mesh = {Chromosome Banding/history ; Chromosomes, Human/*genetics ; Congenital Abnormalities/genetics ; Cytogenetics/history/*trends ; Ethics, Medical ; Female ; *Gene Dosage ; Gene Rearrangement ; Genetic Variation ; History, 20th Century ; History, 21st Century ; Humans ; Infant, Newborn ; Klinefelter Syndrome/diagnosis ; Male ; Metaphase ; National Institutes of Health (U.S.) ; Oligonucleotide Array Sequence Analysis ; United States ; },
}

Chromosome Banding/history
Chromosomes, Human/*genetics
Congenital Abnormalities/genetics
Cytogenetics/history/*trends
Ethics, Medical
Female
*Gene Dosage
Gene Rearrangement
Genetic Variation
History, 20th Century
History, 21st Century
Humans
Infant, Newborn
Klinefelter Syndrome/diagnosis
Male
Metaphase
National Institutes of Health (U.S.)
Oligonucleotide Array Sequence Analysis
United States

@article {pmid31695220,
year = {2019},
author = {},
title = {Nature at 150: evidence in pursuit of truth.},
journal = {Nature},
volume = {575},
number = {7781},
pages = {7-8},
doi = {10.1038/d41586-019-03304-x},
pmid = {31695220},
issn = {1476-4687},
mesh = {Animals ; Anniversaries and Special Events ; Astronomy/history ; Authorship ; DNA/chemistry/history ; *Ethics, Research/history ; Fossils ; Global Warming/legislation & jurisprudence/prevention & control/statistics & numerical data ; Group Processes ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Hominidae ; Human Genome Project/history ; Humans ; International Cooperation ; Ozone/analysis/history ; Paleontology/history ; Peer Review, Research ; Periodicals as Topic/*history/*standards/trends ; Physics/history ; Reproducibility of Results ; Research/education/*history/standards/*trends ; },
}

Animals
Anniversaries and Special Events
Astronomy/history
Authorship
DNA/chemistry/history
*Ethics, Research/history
Fossils
Global Warming/legislation & jurisprudence/prevention & control/statistics & numerical data
Group Processes
History, 19th Century
History, 20th Century
History, 21st Century
Hominidae
Human Genome Project/history
Humans
International Cooperation
Ozone/analysis/history
Paleontology/history
Peer Review, Research
Periodicals as Topic/*history/*standards/trends
Physics/history
Reproducibility of Results
Research/education/*history/standards/*trends

@article {pmid30485586,
year = {2019},
author = {Hard, JJ},
title = {Robin S. Waples-Recipient of the 2018 Molecular Ecology Prize.},
journal = {Molecular ecology},
volume = {28},
number = {1},
pages = {29-32},
doi = {10.1111/mec.14959},
pmid = {30485586},
issn = {1365-294X},
mesh = {*Awards and Prizes ; Ecology/*trends ; Genetics, Population/*history ; History, 20th Century ; History, 21st Century ; Humans ; },
}

*Awards and Prizes
Ecology/*trends
Genetics, Population/*history
History, 20th Century
History, 21st Century
Humans

@article {pmid31501597,
year = {2019},
author = {Nik-Zainal, S},
title = {A path inspired by people.},
journal = {Nature medicine},
volume = {25},
number = {9},
pages = {1329},
doi = {10.1038/s41591-019-0570-8},
pmid = {31501597},
issn = {1546-170X},
mesh = {Genetic Counseling/*history ; *Genetic Diseases, Inborn ; History, 21st Century ; Humans ; },
}

Genetic Counseling/*history
*Genetic Diseases, Inborn
History, 21st Century
Humans

@article {pmid30601140,
year = {2019},
author = {Neill, US},
title = {A conversation with Mary-Claire King.},
journal = {The Journal of clinical investigation},
volume = {129},
number = {1},
pages = {1-3},
doi = {10.1172/JCI126050},
pmid = {30601140},
issn = {1558-8238},
mesh = {Animals ; BRCA1 Protein/genetics/*history ; Female ; Genetics, Medical/*history ; Genomics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Portraits as Topic ; },
}

Animals
BRCA1 Protein/genetics/*history
Female
Genetics, Medical/*history
Genomics/*history
History, 20th Century
History, 21st Century
Humans
Portraits as Topic

@article {pmid30289603,
year = {2018},
author = {Groden, J and Passarge, E},
title = {In memoriam James L. German, a pioneer in early human genetic research.},
journal = {American journal of medical genetics. Part A},
volume = {176},
number = {12},
pages = {2543-2544},
doi = {10.1002/ajmg.a.40513},
pmid = {30289603},
issn = {1552-4833},
mesh = {*Famous Persons ; *Genetic Research/history ; History, 20th Century ; History, 21st Century ; Humans ; },
}

*Famous Persons
*Genetic Research/history
History, 20th Century
History, 21st Century
Humans

@article {pmid31010305,
year = {2019},
author = {Papp, Z},
title = {[Dr. Éva Oláh (1943-2019)].},
journal = {Orvosi hetilap},
volume = {160},
number = {17},
pages = {643-645},
doi = {10.1556/650.2019.31500},
pmid = {31010305},
issn = {1788-6120},
mesh = {Female ; General Surgery/education/*history ; Genetics, Medical/education/*history ; History, 20th Century ; History, 21st Century ; Humans ; },
}

Female
General Surgery/education/*history
Genetics, Medical/education/*history
History, 20th Century
History, 21st Century
Humans

@article {pmid29105053,
year = {2018},
author = {Harper, PS},
title = {Conversations with French medical geneticists. A personal perspective on the origins and early years of medical genetics in France.},
journal = {Clinical genetics},
volume = {94},
number = {1},
pages = {115-124},
doi = {10.1111/cge.13167},
pmid = {29105053},
issn = {1399-0004},
mesh = {Biomedical Research ; *Education, Medical/history/trends ; France ; *Genetics, Medical/education/history/legislation & jurisprudence/trends ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Humans ; Interviews as Topic ; Medicine ; *Physicians ; *Research Personnel ; Science ; },
abstract = {The history of the beginnings of medical genetics in France is discussed, based on the personal perspective provided by recorded interviews with 16 early French workers in the field. The weakness of French genetics overall up to the beginning of the Second World War meant that post-war medical genetics had to start from new, with its origins largely derived from the medical fields of child health and the prevention of genetic disorders, rather than from basic science. The key people responsible for initiating these developments were Robert Debré and Maurice Lamy at Hôpital Necker in Paris and those interviewed included a number of their colleagues and successors, including Jean Frézal, Pierre Maroteaux, Josué Feingold, André and Joelle Boué, and Jean-Claude Kaplan. A separate group of paediatricians, originally at Hôpital Trousseau under Raymond Turpin, including Jérôme Lejeune, Marthe Gautier and Roland Berger, was responsible for major advances in human cytogenetics. Outside Paris, workers were interviewed from Marseille, Strasbourg and Nancy, although not from Lyon, where Jacques-Michel Robert was an early pioneer, particularly of genetic counselling. Challenges in the development of medical genetics in France included the advent of prenatal diagnosis with its ethical issues, the emergence of medical genetics as a distinct specialty from paediatrics, and its spread from Paris across France. These and other aspects are described by those interviewed from their own experiences, given in Appendix S1, while the fully edited transcripts for most interviews are accessible on the Web: www.genmedhist.org/interviews.},
}

Biomedical Research
*Education, Medical/history/trends
France
*Genetics, Medical/education/history/legislation & jurisprudence/trends
History, 19th Century
History, 20th Century
History, 21st Century
Humans
Interviews as Topic
Medicine
*Physicians
*Research Personnel
Science

@article {pmid29574847,
year = {2018},
author = {Weiss, KM},
title = {The tales genes tell (or not): A century of exploration.},
journal = {American journal of physical anthropology},
volume = {165},
number = {4},
pages = {741-753},
doi = {10.1002/ajpa.23333},
pmid = {29574847},
issn = {1096-8644},
mesh = {Animals ; Anthropology, Physical/*history ; *Evolution, Molecular ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Models, Biological ; Primates ; },
}

Animals
Anthropology, Physical/*history
*Evolution, Molecular
Genetics/*history
History, 20th Century
History, 21st Century
Humans
Models, Biological
Primates

@article {pmid29574830,
year = {2018},
author = {Szathmáry, EJE and Zegura, SL and Hammer, MF},
title = {Exceeding Hrdlička's aims: 100 Years of genetics in anthropology.},
journal = {American journal of physical anthropology},
volume = {165},
number = {4},
pages = {754-776},
doi = {10.1002/ajpa.23406},
pmid = {29574830},
issn = {1096-8644},
mesh = {Americas ; *Anthropology, Physical/history/organization & administration ; Evolution, Molecular ; Gene Flow ; Genetic Markers ; Genetic Research/history ; Genetics, Population/*history ; Genomics ; History, 20th Century ; History, 21st Century ; Humans ; },
}

Americas
*Anthropology, Physical/history/organization & administration
Evolution, Molecular
Gene Flow
Genetic Markers
Genetic Research/history
Genetics, Population/*history
Genomics
History, 20th Century
History, 21st Century
Humans

@article {pmid30338423,
year = {2018},
author = {Rajagopalan, RM and Fujimura, JH},
title = {Variations on a Chip: Technologies of Difference in Human Genetics Research.},
journal = {Journal of the history of biology},
volume = {51},
number = {4},
pages = {841-873},
pmid = {30338423},
issn = {1573-0387},
support = {R03HG005030/HG/NHGRI NIH HHS/United States ; R03HG006571/HG/NHGRI NIH HHS/United States ; 0621022//National Science Foundation/International ; },
mesh = {*Genetic Markers ; Genomics/*history ; History, 20th Century ; Human Genome Project/history ; Humans ; Oligonucleotide Array Sequence Analysis/*history ; *Polymorphism, Single Nucleotide ; },
abstract = {In this article we examine the history of the production of microarray technologies and their role in constructing and operationalizing views of human genetic difference in contemporary genomics. Rather than the "turn to difference" emerging as a post-Human Genome Project (HGP) phenomenon, interest in individual and group differences was a central, motivating concept in human genetics throughout the twentieth century. This interest was entwined with efforts to develop polymorphic "genetic markers" for studying human traits and diseases. We trace the technological, methodological and conceptual strategies in the late twentieth century that established single nucleotide polymorphisms (SNPs) as key focal points for locating difference in the genome. By embedding SNPs in microarrays, researchers created a technology that they used to catalog and assess human genetic variation. In the process of making genetic markers and array-based technologies to track variation, scientists also made commitments to ways of describing, cataloging and "knowing" human genetic differences that refracted difference through a continental geographic lens. We show how difference came to matter in both senses of the term: difference was made salient to, and inscribed on, genetic matter(s), as a result of the decisions, assessments and choices of collaborative and hybrid research collectives in medical genomics research.},
}

*Genetic Markers
Genomics/*history
History, 20th Century
Human Genome Project/history
Humans
Oligonucleotide Array Sequence Analysis/*history
*Polymorphism, Single Nucleotide

@article {pmid30355135,
year = {2018},
author = {Ince, S},
title = {Roger J. Hajjar.},
journal = {Circulation research},
volume = {123},
number = {5},
pages = {524-527},
doi = {10.1161/CIRCRESAHA.118.313728},
pmid = {30355135},
issn = {1524-4571},
mesh = {Biomedical Engineering/*history ; Cardiology/*history ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; Regenerative Medicine/*history ; },
}

Biomedical Engineering/*history
Cardiology/*history
History, 20th Century
History, 21st Century
Molecular Biology/*history
Regenerative Medicine/*history

@article {pmid30026375,
year = {2018},
author = {Goldberg-Smith, P},
title = {David M. Ryba: Pushing the Field Forward.},
journal = {Circulation research},
volume = {123},
number = {3},
pages = {318-319},
doi = {10.1161/CIRCRESAHA.118.313597},
pmid = {30026375},
issn = {1524-4571},
mesh = {Cardiovascular Physiological Phenomena ; Education, Professional ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; Physiology/*history ; United States ; },
}

Cardiovascular Physiological Phenomena
Education, Professional
History, 20th Century
History, 21st Century
Molecular Biology/*history
Physiology/*history
United States

@article {pmid29769227,
year = {2018},
author = {Jan, LY and Jan, YN},
title = {Influences: Cold Spring Harbor summer courses and Drosophila melanogaster neurogenetics.},
journal = {The Journal of general physiology},
volume = {150},
number = {6},
pages = {773-775},
pmid = {29769227},
issn = {1540-7748},
mesh = {Animals ; Drosophila melanogaster ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Neurosciences/*history ; Potassium Channels/genetics/metabolism ; Taiwan ; United States ; },
}

Animals
Drosophila melanogaster
Genetics/*history
History, 20th Century
History, 21st Century
Neurosciences/*history
Potassium Channels/genetics/metabolism
Taiwan
United States

@article {pmid29512888,
year = {2018},
author = {Stoll, K and Kubendran, S and Cohen, SA},
title = {The past, present and future of service delivery in genetic counseling: Keeping up in the era of precision medicine.},
journal = {American journal of medical genetics. Part C, Seminars in medical genetics},
volume = {178},
number = {1},
pages = {24-37},
doi = {10.1002/ajmg.c.31602},
pmid = {29512888},
issn = {1552-4876},
mesh = {*Counselors ; Genetic Counseling/history/*methods/trends ; Genetics, Medical ; Health Workforce ; History, 20th Century ; History, 21st Century ; Humans ; Neoplasms/genetics ; Precision Medicine ; Referral and Consultation ; },
abstract = {Precision medicine aims to approach disease treatment and prevention with consideration of the variability in genes, environment, and lifestyle for each person. This focus on the individual is also key to the practice of genetic counseling, whereby foundational professional values prioritize informed and autonomous patient decisions regarding their genetic health. Genetic counselors are ideally suited to help realize the goals of the precision medicine. However, a limited genetic counseling workforce at a time in which there is a rapidly growing need for services is challenging the balance of supply and demand. This article provides historical context to better understand what has informed traditional models of genetic counseling and considers some of the current forces that require genetic counselors to adapt their practice. New service delivery models can improve access to genetic healthcare by overcoming geographical barriers, allowing genetic counselors to see a higher volume of patients and supporting other healthcare providers to better provide genetic services to meet the needs of their patients. Approaches to genetic counseling service delivery are considered with a forward focus to the challenges and opportunities that lie ahead for genetic counselors in this age of precision health.},
}

*Counselors
Genetic Counseling/history/*methods/trends
Genetics, Medical
Health Workforce
History, 20th Century
History, 21st Century
Humans
Neoplasms/genetics
Precision Medicine
Referral and Consultation

@article {pmid30571458,
year = {2018},
author = {Sallam, T},
title = {Stephen G. Young.},
journal = {Circulation research},
volume = {123},
number = {11},
pages = {1192-1195},
doi = {10.1161/CIRCRESAHA.118.314236},
pmid = {30571458},
issn = {1524-4571},
mesh = {Biomedical Research/ethics/standards ; Cardiology/*history ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; United States ; },
}

Biomedical Research/ethics/standards
Cardiology/*history
History, 20th Century
History, 21st Century
Molecular Biology/*history
United States

@article {pmid30359186,
year = {2018},
author = {Goldberg-Smith, P},
title = {Lisa Dorn.},
journal = {Circulation research},
volume = {123},
number = {10},
pages = {1115-1117},
doi = {10.1161/CIRCRESAHA.118.314188},
pmid = {30359186},
issn = {1524-4571},
mesh = {*Awards and Prizes ; Cardiology/*history ; History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; },
}

*Awards and Prizes
Cardiology/*history
History, 20th Century
History, 21st Century
Molecular Biology/*history

@article {pmid30266658,
year = {2018},
author = {Scherrer, K},
title = {Primary transcripts: From the discovery of RNA processing to current concepts of gene expression - Review.},
journal = {Experimental cell research},
volume = {373},
number = {1-2},
pages = {1-33},
doi = {10.1016/j.yexcr.2018.09.011},
pmid = {30266658},
issn = {1090-2422},
mesh = {Cell Nucleus/genetics ; Gene Expression ; *Gene Expression Regulation ; Genetics/history ; Genome ; History, 20th Century ; History, 21st Century ; Nuclear Matrix/chemistry ; RNA Processing, Post-Transcriptional ; Transcription, Genetic ; },
abstract = {The main purpose of this review is to recall for investigators - and in particular students -, some of the early data and concepts in molecular genetics and biology that are rarely cited in the current literature and are thus invariably overlooked. There is a growing tendency among editors and reviewers to consider that only data produced in the last 10-20 years or so are pertinent. However this is not the case. In exact science, sound data and lucid interpretation never become obsolete, and even if forgotten, will resurface sooner or later. In the field of gene expression, covered in the present review, recent post-genomic data have indeed confirmed many of the earlier results and concepts developed in the mid-seventies, well before the start of the recombinant DNA revolution. Human brains and even the most powerful computers, have difficulty in handling and making sense of the overwhelming flow of data generated by recent high-throughput technologies. This was easier when low throughput, more integrative methods based on biochemistry and microscopy dominated biological research. Nowadays, the need for organising concepts is ever more important, otherwise the mass of available data can generate only "building ruins" - the bricks without an architect. Concepts such as pervasive transcription of genomes, large genomic domains, full domain transcripts (FDTs) up to 100 kb long, the prevalence of post-transcriptional events in regulating eukaryotic gene expression, and the 3D-genome architecture, were all developed and discussed before 1990, and are only now coming back into vogue. Thus, to review the impact of earlier concepts on later developments in the field, I will confront former and current data and ideas, including a discussion of old and new methods. Whenever useful, I shall first briefly report post-genomic developments before addressing former results and interpretations. Equally important, some of the terms often used sloppily in scientific discussions will be clearly defined. As a basis for the ensuing discussion, some of the issues and facts related to eukaryotic gene expression will first be introduced. In chapter 2 the evolution in perception of biology over the last 60 years and the impact of the recombinant DNA revolution will be considered. Then, in chapter 3 data and theory concerning the genome, gene expression and genetics will be reviewed. The experimental and theoretical definition of the gene will be discussed before considering the 3 different types of genetic information - the "Triad" - and the importance of post-transcriptional regulation of gene expression in the light of the recent finding that 90% of genomic DNA seems to be transcribed. Some previous attempts to provide a conceptual framework for these observations will be recalled, in particular the "Cascade Regulation Hypothesis" (CRH) developed in 1967-85, and the "Gene and Genon" concept proposed in 2007. A knowledge of the size of primary transcripts is of prime importance, both for experimental and theoretical reasons, since these molecules represent the primary units of the "RNA genome" on which most of the post-transcriptional regulation of gene expression occurs. In chapter 4, I will first discuss some current post-genomic topics before summarising the discovery of the high Mr-RNA transcripts, and the investigation of their processing spanning the last 50 years. Since even today, a consensus concerning the real form of primary transcripts in eukaryotic cells has not yet been reached, I will refer to the viral and specialized cellular models which helped early on to understand the mechanisms of RNA processing and differential splicing which operate in cells and tissues. As a well-studied example of expression and regulation of a specific cellular gene in relation to differentiation and pathology, I will discuss the early and recent work on expression of the globin genes in nucleated avian erythroblasts. An important concept is that the primary transcript not only embodies protein-coding information and regulation of its expression, but also the 3D-structure of the genomic DNA from which it was derived. The wealth of recent post-genomic data published in this field emphasises the importance of a fundamental principle of genome organisation and expression that has been overlooked for years even though it was already discussed in the 1970-80ties. These issues are addressed in chapter 5 which focuses on the involvement of the nuclear matrix and nuclear architecture in DNA and RNA biology. This section will make reference to the Unified Matrix Hypothesis (UMH), which was the first molecular model of the 3D organisation of DNA and RNA. The chapter on the "RNA-genome and peripheral memories" discusses experimental data on the ribonucleoprotein complexes containing pre-mRNA (pre-mRNPs) and mRNA (mRNPs) which are organised in nuclear and cytoplasmic spaces respectively. Finally, "Outlook " will enumerate currently unresolved questions in the field, and will propose some ideas that may encourage further investigation, and comprehension of available experimental data still in need of interpretation. In chapter 8, some propositions and paradigms basic to the authors own analysis are discussed. "In conclusion" the raison d'être of this review is recalled and positioned within the overall framework of scientific endeavour.},
}

Cell Nucleus/genetics
Gene Expression
*Gene Expression Regulation
Genetics/history
Genome
History, 20th Century
History, 21st Century
Nuclear Matrix/chemistry
RNA Processing, Post-Transcriptional
Transcription, Genetic

@article {pmid31238325,
year = {2019},
author = {Haaf, T and Nanda, I},
title = {A Note from the New Editor.},
journal = {Cytogenetic and genome research},
volume = {158},
number = {2},
pages = {55},
doi = {10.1159/000501440},
pmid = {31238325},
issn = {1424-859X},
mesh = {Animals ; *Cytogenetics/history/standards/trends ; History, 20th Century ; History, 21st Century ; Humans ; Periodicals as Topic/history/standards/*trends ; },
}

Animals
*Cytogenetics/history/standards/trends
History, 20th Century
History, 21st Century
Humans
Periodicals as Topic/history/standards/*trends

@article {pmid29614285,
year = {2018},
author = {Goldstein, B},
title = {On Francis Crick, the genetic code, and a clever kid.},
journal = {Current biology : CB},
volume = {28},
number = {7},
pages = {R305},
doi = {10.1016/j.cub.2018.02.058},
pmid = {29614285},
issn = {1879-0445},
mesh = {Evolution, Molecular ; Genes/*physiology ; *Genetic Code ; History, 20th Century ; Humans ; Models, Biological ; Molecular Biology/*history ; },
abstract = {A few years ago, Francis Crick's son told me a story that I can't get out of my mind. I had contacted Michael Crick by email while digging through the background of the researchers who had cracked the genetic code in the 1960s. Francis had died in 2004, and I was contacting some of the people who knew him when he was struggling to decipher the code. Francis didn't appear to struggle often - he is known mostly for his successes - and, as it turns out, this one well-known struggle may have had a clue sitting just barely out of sight.},
}

Evolution, Molecular
Genes/*physiology
*Genetic Code
History, 20th Century
Humans
Models, Biological
Molecular Biology/*history

@article {pmid30108194,
year = {2018},
author = {Neill, US},
title = {A conversation with Cornelia Bargmann.},
journal = {The Journal of clinical investigation},
volume = {128},
number = {7},
pages = {2655-2656},
doi = {10.1172/JCI122804},
pmid = {30108194},
issn = {1558-8238},
mesh = {Animals ; Caenorhabditis elegans/genetics/physiology ; Genetics, Behavioral/history ; History, 20th Century ; History, 21st Century ; Humans ; Neurosciences/*history ; Organizations ; United States ; },
}

Animals
Caenorhabditis elegans/genetics/physiology
Genetics, Behavioral/history
History, 20th Century
History, 21st Century
Humans
Neurosciences/*history
Organizations
United States

@article {pmid30199851,
year = {2018},
author = {Jackson, S},
title = {RNA biologist Joan Steitz awarded the 2018 Lasker~Koshland Special Achievement prize.},
journal = {The Journal of clinical investigation},
volume = {128},
number = {10},
pages = {4195-4197},
pmid = {30199851},
issn = {1558-8238},
mesh = {Animals ; *Awards and Prizes ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; Portraits as Topic ; RNA Splicing/*physiology ; RNA, Messenger/*physiology ; },
}

Animals
*Awards and Prizes
History, 20th Century
History, 21st Century
Humans
Molecular Biology/*history
Portraits as Topic
RNA Splicing/*physiology
RNA, Messenger/*physiology

@article {pmid28950406,
year = {2018},
author = {Harel, T and Lupski, JR},
title = {Genomic disorders 20 years on-mechanisms for clinical manifestations.},
journal = {Clinical genetics},
volume = {93},
number = {3},
pages = {439-449},
doi = {10.1111/cge.13146},
pmid = {28950406},
issn = {1399-0004},
mesh = {DNA Copy Number Variations ; *Genetic Association Studies ; Genetic Diseases, Inborn/diagnosis/*genetics ; Genetic Predisposition to Disease ; Genetic Testing ; Genetic Variation ; Genome, Human ; Genomic Instability ; *Genomics/history/methods ; History, 20th Century ; History, 21st Century ; Humans ; Phenotype ; },
abstract = {Genomic disorders result from copy-number variants (CNVs) or submicroscopic rearrangements of the genome rather than from single nucleotide variants (SNVs). Diverse technologies, including array comparative genomic hybridization (aCGH) and single nucleotide polymorphism (SNP) microarrays, and more recently, whole genome sequencing and whole-exome sequencing, have enabled robust genome-wide unbiased detection of CNVs in affected individuals and in reportedly healthy controls. Sequencing of breakpoint junctions has allowed for elucidation of upstream mechanisms leading to genomic instability and resultant structural variation, whereas studies of the association between CNVs and specific diseases or susceptibility to morbid traits have enhanced our understanding of the downstream effects. In this review, we discuss the hallmarks of genomic disorders as they were defined during the first decade of the field, including genomic instability and the mechanism for rearrangement defined as nonallelic homologous recombination (NAHR); recurrent vs nonrecurrent rearrangements; and gene dosage sensitivity. Moreover, we highlight the exciting advances of the second decade of this field, including a deeper understanding of genomic instability and the mechanisms underlying complex rearrangements, mechanisms for constitutional and somatic chromosomal rearrangements, structural intra-species polymorphisms and susceptibility to NAHR, the role of CNVs in the context of genome-wide copy number and single nucleotide variation, and the contribution of noncoding CNVs to human disease.},
}

DNA Copy Number Variations
*Genetic Association Studies
Genetic Diseases, Inborn/diagnosis/*genetics
Genetic Predisposition to Disease
Genetic Testing
Genetic Variation
Genome, Human
Genomic Instability
*Genomics/history/methods
History, 20th Century
History, 21st Century
Humans
Phenotype

@article {pmid29650627,
year = {2018},
author = {Williams, R},
title = {Rajat Gupta: A Scientist in Doctor's Clothing.},
journal = {Circulation research},
volume = {122},
number = {8},
pages = {1044-1045},
doi = {10.1161/CIRCRESAHA.118.313077},
pmid = {29650627},
issn = {1524-4571},
mesh = {Boston ; Cardiology/*history ; Coronary Disease/genetics/history ; Cytokines/history ; Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Humans ; Michigan ; },
}

Boston
Cardiology/*history
Coronary Disease/genetics/history
Cytokines/history
Genetics, Medical/*history
History, 20th Century
History, 21st Century
Humans
Michigan

@article {pmid30482271,
year = {2018},
author = {Xue, Y and Zhang, Y},
title = {Highlights of genetics research over the past four decades in China.},
journal = {Journal of genetics and genomics = Yi chuan xue bao},
volume = {45},
number = {11},
pages = {561-562},
doi = {10.1016/j.jgg.2018.11.001},
pmid = {30482271},
issn = {1673-8527},
mesh = {Animals ; China ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Research/*history ; },
}

Animals
China
Genetics/*history
History, 20th Century
History, 21st Century
Humans
Research/*history

@article {pmid30459119,
year = {2018},
author = {Cai, L and Zheng, LA and He, L},
title = {The forty years of medical genetics in China.},
journal = {Journal of genetics and genomics = Yi chuan xue bao},
volume = {45},
number = {11},
pages = {569-582},
doi = {10.1016/j.jgg.2018.10.001},
pmid = {30459119},
issn = {1673-8527},
mesh = {Asian Continental Ancestry Group/genetics ; Biomedical Research/history/organization & administration ; China ; Genetic Diseases, Inborn/*genetics/history ; Genetics, Medical/*history/organization & administration ; History, 20th Century ; History, 21st Century ; Humans ; },
abstract = {Medical genetics is the newest cutting-edge discipline that focuses on solving medical problems using genetics knowledge and methods. In China, medical genetics research activities initiated from a poor inner basis but a prosperous outer environment. During the 40 years of reform and opening-up policy, Chinese scientists contributed significantly in the field of medical genetics, garnering considerable attention worldwide. In this review, we highlight the significant findings and/or results discovered by Chinese scientists in monogenic diseases, complex diseases, cancer, genetic diagnosis, as well as gene manipulation and gene therapy. Due to these achievements, China is widely recognized to be at the forefront of medical genetics research and development. However, the significant progress and development that has been achieved could not have been accomplished without sufficient funding and a well-constructed logistics network. The successful implementation of translational and precise medicine sourced from medical genetics will depend on an open ethics policy and intellectual property protection, along with strong support at the national industry level.},
}

Asian Continental Ancestry Group/genetics
Biomedical Research/history/organization & administration
China
Genetic Diseases, Inborn/*genetics/history
Genetics, Medical/*history/organization & administration
History, 20th Century
History, 21st Century
Humans

@article {pmid30455036,
year = {2018},
author = {Duan, CG and Zhu, JK and Cao, X},
title = {Retrospective and perspective of plant epigenetics in China.},
journal = {Journal of genetics and genomics = Yi chuan xue bao},
volume = {45},
number = {11},
pages = {621-638},
doi = {10.1016/j.jgg.2018.09.004},
pmid = {30455036},
issn = {1673-8527},
mesh = {DNA Methylation ; *Epigenesis, Genetic ; Epigenomics/*history ; Gene Expression Regulation, Plant ; Histones/genetics/metabolism ; History, 20th Century ; History, 21st Century ; Plant Proteins/genetics/metabolism ; Plants/*genetics/metabolism ; },
abstract = {Epigenetics refers to the study of heritable changes in gene function that do not involve changes in the DNA sequence. Such effects on cellular and physiological phenotypic traits may result from external or environmental factors or be part of normal developmental program. In eukaryotes, DNA wraps on a histone octamer (two copies of H2A, H2B, H3 and H4) to form nucleosome, the fundamental unit of chromatin. The structure of chromatin is subjected to a dynamic regulation through multiple epigenetic mechanisms, including DNA methylation, histone posttranslational modifications (PTMs), chromatin remodeling and noncoding RNAs. As conserved regulatory mechanisms in gene expression, epigenetic mechanisms participate in almost all the important biological processes ranging from basal development to environmental response. Importantly, all of the major epigenetic mechanisms in mammalians also occur in plants. Plant studies have provided numerous important contributions to the epigenetic research. For example, gene imprinting, a mechanism of parental allele-specific gene expression, was firstly observed in maize; evidence of paramutation, an epigenetic phenomenon that one allele acts in a single locus to induce a heritable change in the other allele, was firstly reported in maize and tomato. Moreover, some unique epigenetic mechanisms have been evolved in plants. For example, the 24-nt siRNA-involved RNA-directed DNA methylation (RdDM) pathway is plant-specific because of the involvements of two plant-specific DNA-dependent RNA polymerases, Pol IV and Pol V. A thorough study of epigenetic mechanisms is of great significance to improve crop agronomic traits and environmental adaptability. In this review, we make a brief summary of important progress achieved in plant epigenetics field in China over the past several decades and give a brief outlook on future research prospects. We focus our review on DNA methylation and histone PTMs, the two most important aspects of epigenetic mechanisms.},
}

DNA Methylation
*Epigenesis, Genetic
Epigenomics/*history
Gene Expression Regulation, Plant
Histones/genetics/metabolism
History, 20th Century
History, 21st Century
Plant Proteins/genetics/metabolism
Plants/*genetics/metabolism

@article {pmid29596172,
year = {2018},
author = {Goulet, O and Phillips, A},
title = {Chapter 5.2.2. From the Syndrome of Intractable Diarrhoea of Infancy to Molecular Analysis and Cell Biology: 50 Years of Evolution.},
journal = {Journal of pediatric gastroenterology and nutrition},
volume = {66 Suppl 1},
number = {},
pages = {S77-S81},
doi = {10.1097/MPG.0000000000001915},
pmid = {29596172},
issn = {1536-4801},
mesh = {Anniversaries and Special Events ; Cell Biology/*history ; Child Nutrition Sciences/*history/organization & administration ; Diarrhea/*history ; Europe ; Gastroenterology/*history/organization & administration ; History, 20th Century ; History, 21st Century ; Humans ; Infant ; Molecular Medicine/*history ; Pediatrics/*history/organization & administration ; Societies, Medical/history ; Syndrome ; },
}

Anniversaries and Special Events
Cell Biology/*history
Child Nutrition Sciences/*history/organization & administration
Diarrhea/*history
Europe
Gastroenterology/*history/organization & administration
History, 20th Century
History, 21st Century
Humans
Infant
Molecular Medicine/*history
Pediatrics/*history/organization & administration
Societies, Medical/history
Syndrome

@article {pmid31402018,
year = {2019},
author = {Lane, R},
title = {Teri Manolio: steering genomics into clinical medicine.},
journal = {Lancet (London, England)},
volume = {394},
number = {10197},
pages = {462},
doi = {10.1016/S0140-6736(19)31682-4},
pmid = {31402018},
issn = {1474-547X},
mesh = {Female ; Genomics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Epidemiology/*history ; National Human Genome Research Institute (U.S.) ; United States ; },
}

Female
Genomics/*history
History, 20th Century
History, 21st Century
Humans
Molecular Epidemiology/*history
National Human Genome Research Institute (U.S.)
United States

@article {pmid31057159,
year = {2019},
author = {O'Mahony, S},
title = {After the golden age: what is medicine for?.},
journal = {Lancet (London, England)},
volume = {393},
number = {10183},
pages = {1798-1799},
doi = {10.1016/S0140-6736(19)30901-8},
pmid = {31057159},
issn = {1474-547X},
mesh = {Epidemiology ; Evidence-Based Medicine ; Female ; *History of Medicine ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Human Genome Project/*history ; Humans ; Longevity ; Medical Overuse/statistics & numerical data ; Medicine/*statistics & numerical data/trends ; Physicians/*history ; },
}

Epidemiology
Evidence-Based Medicine
Female
*History of Medicine
History, 19th Century
History, 20th Century
History, 21st Century
Human Genome Project/*history
Humans
Longevity
Medical Overuse/statistics & numerical data
Medicine/*statistics & numerical data/trends
Physicians/*history

@article {pmid31053614,
year = {2019},
author = {Borinskaya, SA and Ermolaev, AI and Kolchinsky, EI},
title = {Lysenkoism Against Genetics: The Meeting of the Lenin All-Union Academy of Agricultural Sciences of August 1948, Its Background, Causes, and Aftermath.},
journal = {Genetics},
volume = {212},
number = {1},
pages = {1-12},
doi = {10.1534/genetics.118.301413},
pmid = {31053614},
issn = {1943-2631},
mesh = {Animals ; *Biological Evolution ; Genetics/*history ; Heredity ; History, 20th Century ; Plants/genetics ; USSR ; },
abstract = {Progress in genetics and evolutionary biology in the young Union of Soviet Socialist Republics (USSR) was hindered in the 1930s by the agronomist Trofim Lysenko, who believed that acquired traits are inherited, claimed that heredity can be changed by "educating" plants, and denied the existence of genes. Lysenko was supported by Communist Party elites. Lysenko termed his set of ideas and agricultural techniques "Michurinism," after the name of the plant breeder Ivan Michurin, but they are currently known as Lysenkoism. Although Michurinism opposed biological science, Lysenko took up one academic position after another. In 1929, Nikolai Vavilov founded the Lenin All-Union Academy of Agricultural Sciences and became its head; it directed the development of sciences underpinning plant and animal breeding in the Soviet Union. Vavilov was dismissed in 1935 and later died in prison, while Lysenko occupied his position. The triumph of Lysenkoism became complete and genetics was fully defeated in August 1948 at a session of the academy headed by Lysenko. The session was personally directed by Joseph Stalin and marked the USSR's commitment to developing a national science, separated from the global scientific community. As a result, substantial losses occurred in Soviet agriculture, genetics, evolutionary theory, and molecular biology, and the transmission of scientific values and traditions between generations was interrupted. This article reviews the ideological, political, economic, social, cultural, personal, moral, and ethical factors that influenced the August 1948 session, and its immediate and later consequences. We also outline current attempts to revise the role of the August session and whitewash Lysenko.},
}

Animals
*Biological Evolution
Genetics/*history
Heredity
History, 20th Century
Plants/genetics
USSR

@article {pmid30967441,
year = {2019},
author = {Visscher, PM and Goddard, ME},
title = {From R.A. Fisher's 1918 Paper to GWAS a Century Later.},
journal = {Genetics},
volume = {211},
number = {4},
pages = {1125-1130},
doi = {10.1534/genetics.118.301594},
pmid = {30967441},
issn = {1943-2631},
mesh = {Animals ; Genetics/*history ; Genome-Wide Association Study/history/*methods ; History, 20th Century ; History, 21st Century ; Humans ; },
abstract = {The genetics and evolution of complex traits, including quantitative traits and disease, have been hotly debated ever since Darwin. A century ago, a paper from R.A. Fisher reconciled Mendelian and biometrical genetics in a landmark contribution that is now accepted as the main foundation stone of the field of quantitative genetics. Here, we give our perspective on Fisher's 1918 paper in the context of how and why it is relevant in today's genome era. We mostly focus on human trait variation, in part because Fisher did so too, but the conclusions are general and extend to other natural populations, and to populations undergoing artificial selection.},
}

Animals
Genetics/*history
Genome-Wide Association Study/history/*methods
History, 20th Century
History, 21st Century
Humans

@article {pmid30948031,
year = {2019},
author = {Cameron, RA},
title = {A personal history of the echinoderm genome sequencing.},
journal = {Methods in cell biology},
volume = {151},
number = {},
pages = {55-61},
doi = {10.1016/bs.mcb.2019.03.008},
pmid = {30948031},
issn = {0091-679X},
mesh = {Animals ; Chromosome Mapping ; Echinodermata/genetics ; Genome/*genetics ; Genomics/*history ; History, 20th Century ; History, 21st Century ; Sea Urchins/*genetics ; },
abstract = {At the most fundamental level, the genome is the basis for questions about the mechanisms of development: how it works. This perspective provides a brief historical review of the sequencing of the echinoderm genome and the progress in answering this complex question, which depends on technological advances as well as intellectual ones.},
}

Animals
Chromosome Mapping
Echinodermata/genetics
Genome/*genetics
Genomics/*history
History, 20th Century
History, 21st Century
Sea Urchins/*genetics

@article {pmid30858322,
year = {2019},
author = {Azar, B},
title = {Profile of Daniel A. Haber.},
journal = {Proceedings of the National Academy of Sciences of the United States of America},
volume = {116},
number = {13},
pages = {5840-5842},
doi = {10.1073/pnas.1903223116},
pmid = {30858322},
issn = {1091-6490},
mesh = {Genetics, Medical/*history ; History, 20th Century ; History, 21st Century ; Massachusetts ; Medical Oncology/history ; United States ; },
}

Genetics, Medical/*history
History, 20th Century
History, 21st Century
Massachusetts
Medical Oncology/history
United States

@article {pmid30846543,
year = {2019},
author = {Strauss, BS},
title = {Martynas Yčas: The "Archivist" of the RNA Tie Club.},
journal = {Genetics},
volume = {211},
number = {3},
pages = {789-795},
doi = {10.1534/genetics.118.301754},
pmid = {30846543},
issn = {1943-2631},
mesh = {History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; RNA/chemistry/genetics/metabolism ; United States ; },
abstract = {Between about 1951 and the early 1960s, the basic structure of molecular biology was revealed. Central to our understanding was the unraveling of the various roles of RNA, culminating in the identification of messenger RNA (mRNA) and the deciphering of the genetic code. We know a great deal about the role of Brenner, Crick, Jacob, and Nirenberg in these discoveries, but many others played important supporting parts. One of these is a little-known scientist, Martynas Yčas, who appears in histories, generally without explanation, as the "archivist of the RNA Tie Club." Yčas was born in Lithuania. His father helped write the Lithuanian Constitution in 1919. He studied Roman Law and served in the Lithuanian army before escaping from the Russians in 1940. The records of correspondence of Yčas with the physicist George Gamow and with Francis Crick throw some light on the genesis of our understanding of the role of mRNA. The story of the "RNA Tie Club" illustrates the difficulty in assigning credit for important discoveries and underscores the importance of a free exchange of information, even (or especially) among competitors.},
}

History, 20th Century
History, 21st Century
Molecular Biology/*history
RNA/chemistry/genetics/metabolism
United States

@article {pmid30765511,
year = {2019},
author = {Frixione, E and Ruiz-Zamarripa, L},
title = {The "scientific catastrophe" in nucleic acids research that boosted molecular biology.},
journal = {The Journal of biological chemistry},
volume = {294},
number = {7},
pages = {2249-2255},
doi = {10.1074/jbc.CL119.007397},
pmid = {30765511},
issn = {1083-351X},
mesh = {Animals ; *DNA/chemistry/history/metabolism ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; *Nucleic Acid Conformation ; *RNA/chemistry/history/metabolism ; },
}

Animals
*DNA/chemistry/history/metabolism
History, 20th Century
History, 21st Century
Humans
Molecular Biology/*history
*Nucleic Acid Conformation
*RNA/chemistry/history/metabolism

@article {pmid30760854,
year = {2019},
author = {Shay, JW and Wright, WE},
title = {Telomeres and telomerase: three decades of progress.},
journal = {Nature reviews. Genetics},
volume = {20},
number = {5},
pages = {299-309},
doi = {10.1038/s41576-019-0099-1},
pmid = {30760854},
issn = {1471-0064},
mesh = {Abnormalities, Multiple/genetics/metabolism/pathology ; Aging/*genetics/metabolism ; Animals ; Cell Cycle Proteins/genetics/metabolism ; DNA/chemistry/genetics/metabolism ; Gene Expression Regulation ; Genomics/*history/methods ; History, 20th Century ; History, 21st Century ; Humans ; Neoplasms/*genetics/metabolism/pathology ; Nuclear Proteins/genetics/metabolism ; Progeria/genetics/metabolism/pathology ; Ribonucleoproteins, Small Nuclear/genetics/metabolism ; Ribonucleoproteins, Small Nucleolar/genetics/metabolism ; Telomerase/*genetics/metabolism ; Telomere/*chemistry/metabolism ; Telomere Homeostasis ; Telomere-Binding Proteins/genetics/metabolism ; },
abstract = {Many recent advances have emerged in the telomere and telomerase fields. This Timeline article highlights the key advances that have expanded our views on the mechanistic underpinnings of telomeres and telomerase and their roles in ageing and disease. Three decades ago, the classic view was that telomeres protected the natural ends of linear chromosomes and that telomerase was a specific telomere-terminal transferase necessary for the replication of chromosome ends in single-celled organisms. While this concept is still correct, many diverse fields associated with telomeres and telomerase have substantially matured. These areas include the discovery of most of the key molecular components of telomerase, implications for limits to cellular replication, identification and characterization of human genetic disorders that result in premature telomere shortening, the concept that inhibiting telomerase might be a successful therapeutic strategy and roles for telomeres in regulating gene expression. We discuss progress in these areas and conclude with challenges and unanswered questions in the field.},
}

Abnormalities, Multiple/genetics/metabolism/pathology
Aging/*genetics/metabolism
Animals
Cell Cycle Proteins/genetics/metabolism
DNA/chemistry/genetics/metabolism
Gene Expression Regulation
Genomics/*history/methods
History, 20th Century
History, 21st Century
Humans
Neoplasms/*genetics/metabolism/pathology
Nuclear Proteins/genetics/metabolism
Progeria/genetics/metabolism/pathology
Ribonucleoproteins, Small Nuclear/genetics/metabolism
Ribonucleoproteins, Small Nucleolar/genetics/metabolism
Telomerase/*genetics/metabolism
Telomere/*chemistry/metabolism
Telomere Homeostasis
Telomere-Binding Proteins/genetics/metabolism

@article {pmid30733376,
year = {2019},
author = {Dung, SK and López, A and Barragan, EL and Reyes, RJ and Thu, R and Castellanos, E and Catalan, F and Huerta-Sánchez, E and Rohlfs, RV},
title = {Illuminating Women's Hidden Contribution to Historical Theoretical Population Genetics.},
journal = {Genetics},
volume = {211},
number = {2},
pages = {363-366},
doi = {10.1534/genetics.118.301277},
pmid = {30733376},
issn = {1943-2631},
support = {R35 GM128946/GM/NIGMS NIH HHS/United States ; UL1 GM118985/GM/NIGMS NIH HHS/United States ; },
mesh = {*Authorship ; Genetics, Population/*history ; History, 20th Century ; History, 21st Century ; Humans ; Periodicals as Topic/history/statistics & numerical data ; Sexism/history/*statistics & numerical data ; Women/*history ; },
abstract = {While productivity in academia is measured through authorship, not all scientific contributors have been recognized as authors. We consider nonauthor "acknowledged programmers" (APs), who developed, ran, and sometimes analyzed the results of computer programs. We identified APs in Theoretical Population Biology articles published between 1970 and 1990, finding that APs were disproportionately women (P = 4.0 × 10-10). We note recurrent APs who contributed to several highly-cited manuscripts. The occurrence of APs decreased over time, corresponding to the masculinization of computer programming and the shift of programming responsibilities to individuals credited as authors. We conclude that, while previously overlooked, historically, women have made substantial contributions to computational biology. For a video of this abstract, see: https://vimeo.com/313424402.},
}

*Authorship
Genetics, Population/*history
History, 20th Century
History, 21st Century
Humans
Periodicals as Topic/history/statistics & numerical data
Sexism/history/*statistics & numerical data
Women/*history

@article {pmid30728085,
year = {2019},
author = {Moniz, MBJ and Hutton, FG},
title = {Genetics Research turns a new [open access] leaf….},
journal = {Genetics research},
volume = {101},
number = {},
pages = {e1},
doi = {10.1017/S0016672318000071},
pmid = {30728085},
issn = {1469-5073},
mesh = {Access to Information/*history ; Genetics/history/*trends ; History, 20th Century ; History, 21st Century ; Research/trends ; },
}

Access to Information/*history
Genetics/history/*trends
History, 20th Century
History, 21st Century
Research/trends

@article {pmid30706092,
year = {2019},
author = {Kasahara, M and Flajnik, MF and Takahama, Y},
title = {Biology, evolution, and history of antigen processing and presentation: Immunogenetics special issue 2019.},
journal = {Immunogenetics},
volume = {71},
number = {3},
pages = {137-139},
doi = {10.1007/s00251-019-01107-y},
pmid = {30706092},
issn = {1432-1211},
support = {R56 AI140326/AI/NIAID NIH HHS/United States ; },
mesh = {Animals ; Antigen Presentation/*immunology ; History, 20th Century ; History, 21st Century ; Humans ; Immunogenetics/*history ; Major Histocompatibility Complex/*immunology ; },
}

Animals
Antigen Presentation/*immunology
History, 20th Century
History, 21st Century
Humans
Immunogenetics/*history
Major Histocompatibility Complex/*immunology

@article {pmid30679065,
year = {2019},
author = {Bonneuil, C},
title = {Seeing nature as a 'universal store of genes': How biological diversity became 'genetic resources', 1890-1940.},
journal = {Studies in history and philosophy of biological and biomedical sciences},
volume = {75},
number = {},
pages = {1-14},
doi = {10.1016/j.shpsc.2018.12.002},
pmid = {30679065},
issn = {1879-2499},
mesh = {Agriculture/*history ; *Biodiversity ; Biota/*genetics ; Colonialism ; Conservation of Natural Resources/*history ; Genetics/*history ; History, 19th Century ; History, 20th Century ; Politics ; Social Change ; },
abstract = {Till late in the 20th century, biological diversity has been understood and addressed in terms of "genetic resources". This paper proposes a history of this "genetic resources" concept and the biopolitical practices it was related to. A semantic history of the 'resource' idiom first sheds light on how, in the age of empires and fossil industrialism, the Earth came to be considered as a stock of static mineral and living reserves. Then we follow how the gene became the unit of this "resourcist" view of biological diversity as static stocks of entities open to prospection, harnessing and "conservation". Erwin Baur, Nikolai I. Vavilov, Aleksandr S. Serebrovsky and Hermann J. Muller were key biologists who introduced a spatial turn to the gene concept. Beyond the space-time of Neo-mendelian and Morganian laboratory genetics, genes became understood though a geographical gaze at a planetary scale. The world became a "universal store of genes" (Vavilov, 1929). From 1926 to World War 2, this advent of genes as new global epistemic objects went hand in hand with genes' new modes of existence as geopolitical objects. The article documents Interwar years' scramble for genes as well as first collaborative international efforts to conserve and exchange genetic material (which prefigured post WW2 initiatives), and situates the rise of the 'genetic resources' category within mid 20th century's imperialism, high-modernism, agricultural modernization and biopolitics.},
}

Agriculture/*history
*Biodiversity
Biota/*genetics
Colonialism
Conservation of Natural Resources/*history
Genetics/*history
History, 19th Century
History, 20th Century
Politics
Social Change

@article {pmid30661654,
year = {2019},
author = {Morganti, S and Tarantino, P and Ferraro, E and D'Amico, P and Viale, G and Trapani, D and Duso, BA and Curigliano, G},
title = {Complexity of genome sequencing and reporting: Next generation sequencing (NGS) technologies and implementation of precision medicine in real life.},
journal = {Critical reviews in oncology/hematology},
volume = {133},
number = {},
pages = {171-182},
doi = {10.1016/j.critrevonc.2018.11.008},
pmid = {30661654},
issn = {1879-0461},
mesh = {*Data Interpretation, Statistical ; Diagnostic Tests, Routine/history/methods/statistics & numerical data ; Disease Progression ; *Genomics/history/methods/standards ; *High-Throughput Nucleotide Sequencing/history/standards/statistics & numerical data ; History, 20th Century ; History, 21st Century ; Humans ; Mutation ; Neoplasms/diagnosis/*genetics/*therapy ; *Precision Medicine/history/methods/standards ; Research Design/standards ; },
abstract = {The finalization of the Human Genome Project in 2003 paved the way for a deeper understanding of cancer, favouring a faster progression towards "personalized" medicine. Research in oncology has progressively focused on the sequencing of cancer genomes, to better understand the genetic basis of tumorigenesis and identify actionable alterations to guide cancer therapy. Thanks to the development of next-generation-sequencing (NGS) techniques, sequencing of tumoral DNA is today technically easier, faster and cheaper. Commercially available NGS panels enable the detection of single or global genomic alterations, namely gene mutation and mutagenic burden, both on germline and somatic DNA, potentially predicting the response or resistance to cancer treatments. Profiling of tumor DNA is nowadays a standard in cancer research and treatment. In this review we discuss the history, techniques and applications of NGS in cancer care, under a "personalized tailored therapy" perspective.},
}

*Data Interpretation, Statistical
Diagnostic Tests, Routine/history/methods/statistics & numerical data
Disease Progression
*Genomics/history/methods/standards
*High-Throughput Nucleotide Sequencing/history/standards/statistics & numerical data
History, 20th Century
History, 21st Century
Humans
Mutation
Neoplasms/diagnosis/*genetics/*therapy
*Precision Medicine/history/methods/standards
Research Design/standards

@article {pmid30652837,
year = {2018},
author = {Barciszewski, J and Szymański, M and Malesa, A and Olszewska, D and Markiewicz, W and Barciszewski, J},
title = {[Origins of molecular life sciences. Polish context].},
journal = {Postepy biochemii},
volume = {64},
number = {1},
pages = {55-66},
doi = {10.18388/pb.2018_105},
pmid = {30652837},
issn = {0032-5422},
mesh = {Biological Science Disciplines/*history ; History, 20th Century ; Molecular Biology/*history ; Poland ; },
abstract = {Different scientific disciplines such as physics, genetics or biochemistry crossed over into molecular biology in the last century. The Polish state didn't existed at the beginning of XX century, but the territory for a large number of scientists was not a limitation in delineating new routes, making fundamental discoveries or training the new generation of distinguished people of sciences. We want to tell the story of roots of molecular biology from the Polish perspective and outline its importance, by bringing closer the most essential discoveries of elite scientists in different fields of life science, associated with Poland and its territory.},
}

Biological Science Disciplines/*history
History, 20th Century
Molecular Biology/*history
Poland

@article {pmid30639424,
year = {2019},
author = {Livi, GP},
title = {Halcyon days of TOR: Reflections on the multiple independent discovery of the yeast and mammalian TOR proteins.},
journal = {Gene},
volume = {692},
number = {},
pages = {145-155},
doi = {10.1016/j.gene.2018.12.046},
pmid = {30639424},
issn = {1879-0038},
mesh = {Animals ; Drug Resistance, Fungal/drug effects/genetics ; Fungal Proteins/genetics/metabolism ; History, 20th Century ; History, 21st Century ; Humans ; Mammals ; Mechanistic Target of Rapamycin Complex 1/genetics/metabolism ; Mechanistic Target of Rapamycin Complex 2/genetics/metabolism ; Molecular Biology/*history ; Mutation ; Protein-Serine-Threonine Kinases/*genetics/metabolism ; Saccharomyces cerevisiae Proteins/*genetics/metabolism ; Sirolimus/pharmacology ; Structure-Activity Relationship ; TOR Serine-Threonine Kinases/chemistry/*metabolism ; Tacrolimus Binding Protein 1A/genetics/*metabolism ; },
abstract = {The quest to elucidate the molecular mechanism of action of rapamycin in the early 1990s led to the discovery of the novel TOR (target of rapamycin) proteins in yeast and mammalian cells. This was a major breakthrough that resulted in the development of new rapamycin analogs as anti-cancer agents, and launched new research that revealed the pre-eminent biological role of mTOR (mammalian or mechanistic TOR). Beyond mediating rapamycin sensitivity, the TOR proteins are nutrient sensing protein kinases, conserved from yeast to man, with a core function in regulating cell growth, metabolism and overall cell survival. There have been many insightful historical accounts of the origins of TOR; however, the complete TOR dossier would benefit from a chapter on the untold story of the simultaneous co-discovery of the yeast TOR proteins by two independent laboratories, one that is inclusive of the discoveries made at the former SmithKline Beecham (legacy GlaxoSmithKline). Accordingly, this comprehensive retrospective retraces the provenance of yeast TOR (circa 1990-1996) and highlights the early groundbreaking publications that revealed the identity of the TOR genes and proteins. It also commemorates key companion papers which helped to clarify yeast TOR gene nomenclature, identified structural motifs in the predicted TOR protein sequences, demonstrated interactions between yeast FKBP12-rapamycin and TOR, characterized mutations responsible for drug resistance, and began to decipher TOR protein function; some of these crucial early studies appeared in this journal (e.g., Koser et al., 1993. Gene 129, 159-165; Cafferkey et al., 1994. Gene 141, 133-136; Freeman and Livi, 1996. Gene 172, 143-147). A period of intensive investigation, events are portrayed chronologically and juxtaposed alongside the independent parallel efforts to identify and purify mTOR. Finally, in a broader historical context, TOR and mTOR are examined a posteriori as paragons of multiple discovery, illustrating how this common phenomenon (also known as simultaneous invention) can greatly accelerate problem solving and advance human knowledge in a fast-breaking area of scientific research.},
}

Animals
Drug Resistance, Fungal/drug effects/genetics
Fungal Proteins/genetics/metabolism
History, 20th Century
History, 21st Century
Humans
Mammals
Mechanistic Target of Rapamycin Complex 1/genetics/metabolism
Mechanistic Target of Rapamycin Complex 2/genetics/metabolism
Molecular Biology/*history
Mutation
Protein-Serine-Threonine Kinases/*genetics/metabolism
Saccharomyces cerevisiae Proteins/*genetics/metabolism
Sirolimus/pharmacology
Structure-Activity Relationship
TOR Serine-Threonine Kinases/chemistry/*metabolism
Tacrolimus Binding Protein 1A/genetics/*metabolism

@article {pmid30626637,
year = {2019},
author = {Haloupek, N},
title = {Barbara J. Meyer: 2018 Thomas Hunt Morgan Medal.},
journal = {Genetics},
volume = {211},
number = {1},
pages = {1-3},
doi = {10.1534/genetics.118.301883},
pmid = {30626637},
issn = {1943-2631},
mesh = {*Awards and Prizes ; Genetics/*history ; History, 20th Century ; History, 21st Century ; Societies, Scientific ; United States ; },
abstract = {The Genetics Society of America's (GSA) Thomas Hunt Morgan Medal honors researchers for lifetime achievement in genetics. The recipient of the 2018 Morgan Medal, Barbara J. Meyer of the Howard Hughes Medical Institute and the University of California, Berkeley, is recognized for her career-long, groundbreaking investigations of how chromosome behaviors are controlled. Meyer's work has revealed mechanisms of sex determination and dosage compensation in Caenorhabditis elegans that continue to serve as the foundation of diverse areas of study on chromosome structure and function today, nearly 40 years after she began her work on the topic.},
}

*Awards and Prizes
Genetics/*history
History, 20th Century
History, 21st Century
Societies, Scientific
United States

@article {pmid30611771,
year = {2019},
author = {Jager, MJ and Brand, A and Claas, FHJ},
title = {Jon van Rood: The pioneer and his personal view on the early developments of HLA and immunogenetics.},
journal = {Transplant immunology},
volume = {52},
number = {},
pages = {1-26},
doi = {10.1016/j.trim.2018.12.006},
pmid = {30611771},
issn = {1878-5492},
mesh = {Blood Transfusion ; HLA Antigens/*immunology ; Hematopoietic Stem Cell Transplantation ; History, 20th Century ; History, 21st Century ; Humans ; Immunogenetics/*history ; *Transplantation Immunology ; },
abstract = {A single observation in a patient with an unusual transfusion reaction led to a life-long fascination with immunogenetics, and a strong wish to improve the care for patients needing a transplantation. In 2017, Jon van Rood, one of the pioneers in the field of HLA and immunogenetics of transplantation, passed away. Several obituaries have appeared describing some of the highlights of his career. However, the details of the early developments leading among others to the routine use of HLA as an important parameter for donor selection in organ- and hematopoietic stem cell transplantation are largely unknown to the community. After his retirement as Chair of the Department of Immunohaematology and Blood Transfusion (IHB) in 1991, Jon van Rood wrote regularly in the "Crosstalk", the departmental journal, and gave his personal view on the history of the discovery and implications of HLA. These autobiographic descriptions were originally written in Dutch and have been translated, while texts from other sources and the relevant references have been added to illustrate the historical perspective. This special issue of Transplant Immunology combines the autobiographic part, Jon's own version of the history, with other facts of his scientific life and the impact of his findings on the field of clinical transplantation. Hopefully, this knowledge of the history will be of benefit for future developments in transplantation immunology.},
}

Blood Transfusion
HLA Antigens/*immunology
Hematopoietic Stem Cell Transplantation
History, 20th Century
History, 21st Century
Humans
Immunogenetics/*history
*Transplantation Immunology

@article {pmid30604835,
year = {2018},
author = {Krumlauf, R},
title = {Hox genes, clusters and collinearity.},
journal = {The International journal of developmental biology},
volume = {62},
number = {11-12},
pages = {659-663},
doi = {10.1387/ijdb.180330rr},
pmid = {30604835},
issn = {1696-3547},
mesh = {Animals ; Body Patterning/genetics ; *Gene Expression Regulation, Developmental ; *Genes, Homeobox ; Genetics/*history ; History, 20th Century ; History, 21st Century ; },
abstract = {This year marks the 40th anniversary of the discovery by Ed Lewis of the property of collinearity in the bithorax gene complex in Drosophila. This landmark work illustrated the need to understand regulatory mechanisms that coordinate expression of homeotic gene clusters. Through the efforts of many groups, investigation of the Hox gene family has generated many fundamental findings on the roles and regulation of this conserved gene family in development, disease and evolution. This has led to a number of important conceptual advances in gene regulation and evolutionary biology. This article presents some of the history and advances made through studies on Hox gene clusters.},
}

Animals
Body Patterning/genetics
*Gene Expression Regulation, Developmental
*Genes, Homeobox
Genetics/*history
History, 20th Century
History, 21st Century

@article {pmid30584186,
year = {2018},
author = {},
title = {GGS Prize 2018.},
journal = {Genes & genetic systems},
volume = {93},
number = {5},
pages = {169},
doi = {10.1266/ggs.93.169},
pmid = {30584186},
issn = {1880-5779},
mesh = {*Awards and Prizes ; Genetics/*history ; History, 21st Century ; Periodicals as Topic/*history ; },
}

*Awards and Prizes
Genetics/*history
History, 21st Century
Periodicals as Topic/*history

@article {pmid30579463,
year = {2019},
author = {Heithaus, JL},
title = {50 Years Ago in The Journal Of Pediatrics: Cytogenetics in Mentally Defective Children with Anomalies: A Controlled Study.},
journal = {The Journal of pediatrics},
volume = {204},
number = {},
pages = {161},
doi = {10.1016/j.jpeds.2018.07.063},
pmid = {30579463},
issn = {1097-6833},
mesh = {Child ; Cytogenetics/*history/methods ; History, 20th Century ; Humans ; Intellectual Disability/diagnosis/*genetics/history ; Pediatrics/*history ; },
}

Child
Cytogenetics/*history/methods
History, 20th Century
Humans
Intellectual Disability/diagnosis/*genetics/history
Pediatrics/*history

@article {pmid30575338,
year = {2018},
author = {},
title = {12th East-West Immunogenetics Conference, 8-9th March 2018, City Conference Centre, Prague, Czech Republic.},
journal = {HLA},
volume = {92 Suppl 2},
number = {},
pages = {67-78},
doi = {10.1111/tan.13442},
pmid = {30575338},
issn = {2059-2310},
mesh = {Czech Republic ; Graft Rejection/diagnosis/genetics/*immunology/prevention & control ; Graft Survival/physiology ; Hematopoietic Stem Cell Transplantation/*methods ; Histocompatibility/genetics ; Histocompatibility Testing ; History, 21st Century ; Humans ; *Immune Tolerance ; Immunogenetics/history/methods/*trends ; Immunosuppressive Agents/therapeutic use ; Organ Transplantation/*methods ; Tissue Donors/supply & distribution ; },
}

Czech Republic
Graft Rejection/diagnosis/genetics/*immunology/prevention & control
Graft Survival/physiology
Hematopoietic Stem Cell Transplantation/*methods
Histocompatibility/genetics
Histocompatibility Testing
History, 21st Century
Humans
*Immune Tolerance
Immunogenetics/history/methods/*trends
Immunosuppressive Agents/therapeutic use
Organ Transplantation/*methods
Tissue Donors/supply & distribution

@article {pmid30554668,
year = {2018},
author = {Henn, BM and Quintana-Murci, L},
title = {Editorial overview: The history, geography and adaptation of human genes: A tribute to L. Luca Cavalli-Sforza.},
journal = {Current opinion in genetics & development},
volume = {53},
number = {},
pages = {iii-v},
doi = {10.1016/j.gde.2018.11.004},
pmid = {30554668},
issn = {1879-0380},
mesh = {Adaptation, Physiological/genetics ; Genetics, Population/*history ; Geography ; History, 20th Century ; History, 21st Century ; Human Genetics/*history ; Humans ; },
}

Adaptation, Physiological/genetics
Genetics, Population/*history
Geography
History, 20th Century
History, 21st Century
Human Genetics/*history
Humans

@article {pmid30554378,
year = {2019},
author = {Hoßfeld, U and Levit, GS and Watts, E},
title = {100 Years of phenogenetics: Valentin Haecker and his examination of the phenotype.},
journal = {Molecular genetics and genomics : MGG},
volume = {294},
number = {2},
pages = {445-456},
doi = {10.1007/s00438-018-1519-1},
pmid = {30554378},
issn = {1617-4623},
mesh = {Genetics/*history ; History, 20th Century ; Humans ; Mutation/genetics ; *Phenotype ; },
abstract = {Following the 'rediscovery' of Mendel's work around 1900 the study of genetics grew rapidly and multiple new inheritance theories quickly emerged such as Hugo de Vries' "Mutation Theory" (1901) and the "Boveri-Sutton Chromosome Theory" (1902). Mendel's work also caught the attention of the German geneticist Valentin Haecker, yet he was generally dissatisfied the simplicity of Mendelian genetics as he believed that inheritance and the expression of various characteristics appeared to be much more complex than the proposed "on-off hypotheses". Haecker's primary objection was that Mendelian-based theories still failed to bridge the gap between hereditary units and phenotypic traits. Haecker thus set out to bridge this gap in his research program, which he called Phänogenetik ("phenogenetics"). He outlined his work in a special study "Entwicklungsgeschichtliche Eigenschaftsanalyse (Phänogenetik)" in 1918. 2018 thus marks the 100th anniversary of Haecker's seminal publication, which was devoted to the analysis of the phenotype and highlighted the true complexity of heredity. This article takes a specific look at Haecker and his work, while also illustrating how this often forgotten scientist influenced the field of genetics and other scientists.},
}

Genetics/*history
History, 20th Century
Humans
Mutation/genetics
*Phenotype

@article {pmid30523165,
year = {2018},
author = {Charlesworth, D},
title = {Mogens Westergaard's Contributions to Understanding Sex Chromosomes.},
journal = {Genetics},
volume = {210},
number = {4},
pages = {1143-1149},
doi = {10.1534/genetics.118.301128},
pmid = {30523165},
issn = {1943-2631},
mesh = {Alleles ; Chromosomes, Plant/genetics ; *Evolution, Molecular ; Genetic Linkage ; Genetics/*history ; History, 20th Century ; Magnoliopsida/*genetics ; Sex Chromosomes/genetics ; Sex Determination Processes/*genetics ; },
abstract = {A long-standing question in biology concerns the genetic mechanisms by which two sexes can evolve (botanists call this the dioecious condition and zoologists call it gonochory) from a functionally ancestral hermaphroditic state (without separate sexes). In 1932, H. J. Muller, one of the great 20th century geneticists but also a fine evolutionary biologist, pointed out that two mutations were necessary. It was therefore puzzling that sex determination often involves a single genetic locus. Muller believed that the evolution of a single-gene system was possible, because maize geneticists had synthesized a single-gene system with separate sexes. However, this system is highly artificial, requiring geneticists to actively eliminate the wild-type allele at one of the two genes involved. This genetic system cannot therefore explain the natural evolution of dioecy. In 1958, Westergaard reviewed studies from a diversity of flowering plants, and showed that the genetics of natural sex determination in plants does not support the maize system. Instead, the genetic results pointed to a model involving two separate factors, with close linkage creating a single genetic locus. Moreover, Westergaard also pointed out that a two-gene model offers a natural explanation for the evolution of suppressed recombination between sex chromosome pairs. Studying plants allowed genetic analyses of the early steps in the evolution of dioecy, using dioecious species that evolved recently from species without separate sexes, whereas Muller failed to fully understand such evolutionary changes because he focused on animals, where later changes have often happened and obscured the early stages.},
}

Alleles
Chromosomes, Plant/genetics
*Evolution, Molecular
Genetic Linkage
Genetics/*history
History, 20th Century
Magnoliopsida/*genetics
Sex Chromosomes/genetics
Sex Determination Processes/*genetics

@article {pmid30523164,
year = {2018},
author = {Haloupek, N},
title = {Mariana Wolfner: 2018 Genetics Society of America Medal.},
journal = {Genetics},
volume = {210},
number = {4},
pages = {1139-1141},
doi = {10.1534/genetics.118.301772},
pmid = {30523164},
issn = {1943-2631},
mesh = {Animals ; *Awards and Prizes ; Drosophila melanogaster/*genetics ; Genetics/*history/*trends ; History, 21st Century ; Humans ; Seminal Plasma Proteins/genetics ; Sexual Behavior ; Societies, Scientific ; },
abstract = {The Genetics Society of America (GSA) Medal recognizes researchers who have made outstanding contributions to the field of genetics in the past 15 years. The 2018 GSA Medal has been awarded to Mariana Wolfner of Cornell University for her work on reproductive processes that occur around the time of fertilization. This includes characterization of seminal proteins in Drosophila melanogaster, which has uncovered a wealth of information about sexual conflict in evolution.},
}

Animals
*Awards and Prizes
Drosophila melanogaster/*genetics
Genetics/*history/*trends
History, 21st Century
Humans
Seminal Plasma Proteins/genetics
Sexual Behavior
Societies, Scientific

@article {pmid30530852,
year = {2018},
author = {Russell, DW},
title = {Lucky, times ten: A career in Texas science.},
journal = {The Journal of biological chemistry},
volume = {293},
number = {49},
pages = {18804-18827},
doi = {10.1074/jbc.X118.005918},
pmid = {30530852},
issn = {1083-351X},
support = {P01 HL020948/HL/NHLBI NIH HHS/United States ; PL1 DK081182/DK/NIDDK NIH HHS/United States ; R01 AR051943/AR/NIAMS NIH HHS/United States ; },
mesh = {Animals ; History, 20th Century ; History, 21st Century ; Humans ; Molecular Biology/*history ; Texas ; },
abstract = {On January 21, 2017, I received an E-mail from Herb Tabor that I had been simultaneously hoping for and dreading for several years: an invitation to write a "Reflections" article for the Journal of Biological Chemistry On the one hand, I was honored to receive an invitation from Herb, a man I have admired for over 40 years, known for 24 years, and worked with as a member of the Editorial Board and Associate Editor of the Journal of Biological Chemistry for 17 years. On the other hand, the invitation marked the waning of my career as an academic scientist. With these conflicting emotions, I wrote this article with the goals of recording my career history and recognizing the many mentors, trainees, and colleagues who have contributed to it and, perhaps with pretension, with the desire that students who are beginning a career in research will find inspiration in the path I have taken and appreciate the importance of luck.},
}

Animals
History, 20th Century
History, 21st Century
Humans
Molecular Biology/*history
Texas

@article {pmid30501998,
year = {2019},
author = {Arnone, MI and Oliveri, P and Martinez, P},
title = {A conceptual history of the "regulatory genome": From Theodor Boveri to Eric Davidson.},
journal = {Marine genomics},
volume = {44},
number = {},
pages = {24-31},
doi = {10.1016/j.margen.2018.11.003},
pmid = {30501998},
issn = {1876-7478},
mesh = {Animals ; *Gene Regulatory Networks ; *Genome ; Genomics/*history ; History, 19th Century ; History, 20th Century ; },
abstract = {The formalization of the idea of "Regulatory Genome" is a recent one. However, it stems from a long tradition in the study of how the genetic information is transferred between generations. Theodore Boveri suggested for the first time that the whole genome participates in the shaping of individuals. Through a long lineage of researchers, we have learned how this whole-genome activity is regulated, in space and time. It is, however, due to the insights and experimental approaches taken by different researchers, among them Eric Davidson and associates, that we understand the mechanistic basis of this regulation. Whole batteries of regulatory genes interact through their cis-regulatory modules, generating a precise pattern of cross-controlled gene activity (Gene Regulatory Networks). How these genes are deployed in development and evolution has become an area of vibrant research. Here we revisit the history of this intellectual endeavour, taking as key defining points along this historical trajectory the contributions of Theodor Boveri and Eric Davidson.},
}

Animals
*Gene Regulatory Networks
*Genome
Genomics/*history
History, 19th Century
History, 20th Century

@article {pmid30478371,
year = {2018},
author = {Datta, MS and Kishony, R},
title = {A spotlight on bacterial mutations for 75 years.},
journal = {Nature},
volume = {563},
number = {7733},
pages = {633-644},
doi = {10.1038/d41586-018-07521-8},
pmid = {30478371},
issn = {1476-4687},
mesh = {Animals ; Bacteria/cytology/*genetics/virology ; Bacteriophages/pathogenicity ; CRISPR-Cas Systems/genetics ; Escherichia coli/cytology/genetics/virology ; *Evolution, Molecular ; History, 20th Century ; History, 21st Century ; Microbiology/*history ; Models, Genetic ; Molecular Biology/*history ; Mutagenesis ; *Mutation ; Poisson Distribution ; Selection, Genetic/*genetics ; Streptococcus thermophilus/cytology/genetics/virology ; },
}

Animals
Bacteria/cytology/*genetics/virology
Bacteriophages/pathogenicity
CRISPR-Cas Systems/genetics
Escherichia coli/cytology/genetics/virology
*Evolution, Molecular
History, 20th Century
History, 21st Century
Microbiology/*history
Models, Genetic
Molecular Biology/*history
Mutagenesis
*Mutation
Poisson Distribution
Selection, Genetic/*genetics
Streptococcus thermophilus/cytology/genetics/virology

@article {pmid30467159,
year = {2018},
author = {Ramakrishnan, V and Henderson, R},
title = {Thomas A. Steitz (1940-2018).},
journal = {Science (New York, N.Y.)},
volume = {362},
number = {6417},
pages = {897},
doi = {10.1126/science.aav8253},
pmid = {30467159},
issn = {1095-9203},
support = {MC_U105184332//Medical Research Council/United Kingdom ; },
mesh = {History, 20th Century ; History, 21st Century ; Molecular Biology/*history ; Ribosomes/*ultrastructure ; United States ; },
}

History, 20th Century
History, 21st Century
Molecular Biology/*history
Ribosomes/*ultrastructure
United States

@article {pmid30457467,
year = {2018},
author = {Ma, Q and Adua, E and Boyce, MC and Li, X and Ji, G and Wang, W},
title = {IMass Time: The Future, in Future!.},
journal = {Omics : a journal of integrative biology},
volume = {22},
number = {11},
pages = {679-695},
doi = {10.1089/omi.2018.0162},
pmid = {30457467},
issn = {1557-8100},
mesh = {Artificial Intelligence/*trends ; Big Data ; Glycomics/history/methods ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Lipids/chemistry ; Mass Spectrometry/*history/methods/trends ; Metabolomics/history/methods ; Nobel Prize ; Proteins/chemistry ; Proteomics/history/methods ; },
abstract = {Joseph John Thomson discovered and proved the existence of electrons through a series of experiments. His work earned him a Nobel Prize in 1906 and initiated the era of mass spectrometry (MS). In the intervening time, other researchers have also been awarded the Nobel Prize for significant advances in MS technology. The development of soft ionization techniques was central to the application of MS to large biological molecules and led to an unprecedented interest in the study of biomolecules such as proteins (proteomics), metabolites (metabolomics), carbohydrates (glycomics), and lipids (lipidomics), allowing a better understanding of the molecular underpinnings of health and disease. The interest in large molecules drove improvements in MS resolution and now the challenge is in data deconvolution, intelligent exploitation of heterogeneous data, and interpretation, all of which can be ameliorated with a proposed IMass technology. We define IMass as a combination of MS and artificial intelligence, with each performing a specific role. IMass will offer advantages such as improving speed, sensitivity, and analyses of large data that are presently not possible with MS alone. In this study, we present an overview of the MS considering historical perspectives and applications, challenges, as well as insightful highlights of IMass.},
}

Artificial Intelligence/*trends
Big Data
Glycomics/history/methods
History, 19th Century
History, 20th Century
History, 21st Century
Lipids/chemistry
Mass Spectrometry/*history/methods/trends
Metabolomics/history/methods
Nobel Prize
Proteins/chemistry
Proteomics/history/methods

@article {pmid30442340,
year = {2018},
author = {Folle, GA},
title = {Chromosomes forever Prof. Máximo Eduardo Drets (1930-2017).},
journal = {Mutation research. Genetic toxicology and environmental mutagenesis},
volume = {836},
number = {Pt B},
pages = {2-3},
doi = {10.1016/j.mrgentox.2018.08.001},
pmid = {30442340},
issn = {1879-3592},
mesh = {*Chromosomes, Human ; Cytogenetics/*history ; Genome, Human ; History, 20th Century ; History, 21st Century ; Humans ; },
}

*Chromosomes, Human
Cytogenetics/*history
Genome, Human
History, 20th Century
History, 21st Century
Humans

@article {pmid30429215,
year = {2019},
author = {Uhlenbeck, OC},
title = {Thomas A. Steitz (1940-2018).},
journal = {RNA (New York, N.Y.)},
volume = {25},
number = {2},
pages = {169-172},
doi = {10.1261/rna.069575.118},
pmid = {30429215},
issn = {1469-9001},
mesh = {*Crystallography, X-Ray/history ; History, 20th Century ; History, 21st Century ; *Molecular Biology/history ; Nobel Prize ; },
}

*Crystallography, X-Ray/history
History, 20th Century
History, 21st Century
*Molecular Biology/history
Nobel Prize

@article {pmid30415837,
year = {2018},
author = {Posth, C and Nakatsuka, N and Lazaridis, I and Skoglund, P and Mallick, S and Lamnidis, TC and Rohland, N and Nägele, K and Adamski, N and Bertolini, E and Broomandkhoshbacht, N and Cooper, A and Culleton, BJ and Ferraz, T and Ferry, M and Furtwängler, A and Haak, W and Harkins, K and Harper, TK and Hünemeier, T and Lawson, AM and Llamas, B and Michel, M and Nelson, E and Oppenheimer, J and Patterson, N and Schiffels, S and Sedig, J and Stewardson, K and Talamo, S and Wang, CC and Hublin, JJ and Hubbe, M and Harvati, K and Nuevo Delaunay, A and Beier, J and Francken, M and Kaulicke, P and Reyes-Centeno, H and Rademaker, K and Trask, WR and Robinson, M and Gutierrez, SM and Prufer, KM and Salazar-García, DC and Chim, EN and Müller Plumm Gomes, L and Alves, ML and Liryo, A and Inglez, M and Oliveira, RE and Bernardo, DV and Barioni, A and Wesolowski, V and Scheifler, NA and Rivera, MA and Plens, CR and Messineo, PG and Figuti, L and Corach, D and Scabuzzo, C and Eggers, S and DeBlasis, P and Reindel, M and Méndez, C and Politis, G and Tomasto-Cagigao, E and Kennett, DJ and Strauss, A and Fehren-Schmitz, L and Krause, J and Reich, D},
title = {Reconstructing the Deep Population History of Central and South America.},
journal = {Cell},
volume = {175},
number = {5},
pages = {1185-1197.e22},
doi = {10.1016/j.cell.2018.10.027},
pmid = {30415837},
issn = {1097-4172},
support = {R01 GM100233/GM/NIGMS NIH HHS/United States ; R01 HG006399/HG/NHGRI NIH HHS/United States ; /HHMI/Howard Hughes Medical Institute/United States ; FC001595/CRUK_/Cancer Research UK/United Kingdom ; FC001595/MRC_/Medical Research Council/United Kingdom ; FC001595/WT_/Wellcome Trust/United Kingdom ; },
mesh = {Central America ; DNA, Ancient/analysis ; DNA, Mitochondrial/genetics ; Gene Flow ; Genetics, Population/*history ; *Genome, Human ; History, Ancient ; Humans ; Models, Theoretical ; South America ; },
abstract = {We report genome-wide ancient DNA from 49 individuals forming four parallel time transects in Belize, Brazil, the Central Andes, and the Southern Cone, each dating to at least ∼9,000 years ago. The common ancestral population radiated rapidly from just one of the two early branches that contributed to Native Americans today. We document two previously unappreciated streams of gene flow between North and South America. One affected the Central Andes by ∼4,200 years ago, while the other explains an affinity between the oldest North American genome associated with the Clovis culture and the oldest Central and South Americans from Chile, Brazil, and Belize. However, this was not the primary source for later South Americans, as the other ancient individuals derive from lineages without specific affinity to the Clovis-associated genome, suggesting a population replacement that began at least 9,000 years ago and was followed by substantial population continuity in multiple regions.},
}

Central America
DNA, Ancient/analysis
DNA, Mitochondrial/genetics
Gene Flow
Genetics, Population/*history
*Genome, Human
History, Ancient
Humans
Models, Theoretical
South America

@article {pmid30414532,
year = {2019},
author = {Resta, RG},
title = {What have we been trying to do and have we been any good at it? A history of measuring the success of genetic counseling.},
journal = {European journal of medical genetics},
volume = {62},
number = {5},
pages = {300-307},
doi = {10.1016/j.ejmg.2018.11.003},
pmid = {30414532},
issn = {1878-0849},
mesh = {Genetic Counseling/*history/methods/standards ; History, 20th Century ; History, 21st Century ; Humans ; Outcome and Process Assessment (Health Care) ; },
abstract = {Genetic counseling as a formal clinical service was defined in 1947, though the first study of its effectiveness was not published until 1966. This history can be broadly divided in to 3 periods: 1) 1947-1980, when the focus was primarily on prevention of disability, 2) 1981-1995, when the rationales for counseling began to shift and the first studies on the psychosocial effects of genetic counseling started to appear, albeit still largely focused on reproduction, and 3) 1996 - Present, when genetic counselors increased their presence in oncology, cardiology, and other non-reproductive areas of genetic counseling. Changes in outcome measures of genetic counseling have been intertwined with technological advances in genetic testing, better and more sophisticated outcome measures, the growing professional independence and clinical positions of genetic counselors, and the influence of social scientists particularly from behavioral psychology. Despite advances, assessment of the effectiveness of genetic counseling continues is complicated by a lack of widespread agreement about the most appropriate outcome measures as well as research design problems. Broadly speaking though, genetic counseling tends to improve information recall, improve psychological well-being, and is generally well-regarded by patients.},
}

Genetic Counseling/*history/methods/standards
History, 20th Century
History, 21st Century
Humans
Outcome and Process Assessment (Health Care)

@article {pmid30401760,
year = {2018},
author = {Haloupek, N},
title = {Job Dekker: 2018 Edward Novitski Prize.},
journal = {Genetics},
volume = {210},
number = {3},
pages = {745-746},
pmid = {30401760},
issn = {1943-2631},
mesh = {*Awards and Prizes ; Genetics/*history ; History, 20th Century ; History, 21st Century ; },
abstract = {The Genetics Society of America's (GSA) Edward Novitski Prize is awarded to researchers who have solved challenging problems in genetics through experiments that demonstrate exceptional creativity and ingenuity. Job Dekker of the University of Massachusetts Medical School has been selected for the 2018 award in recognition of his innovative approach to understanding chromosome interactions and nuclear organization. Among Dekker's contributions are the development of the now-ubiquitous approach of chromosome conformation capture and the discovery of topologically associating domains.},
}

*Awards and Prizes
Genetics/*history
History, 20th Century
History, 21st Century

@article {pmid30390178,
year = {2018},
author = {Maxson Jones, K and Ankeny, RA and Cook-Deegan, R},
title = {The Bermuda Triangle: The Pragmatics, Policies, and Principles for Data Sharing in the History of the Human Genome Project.},
journal = {Journal of the history of biology},
volume = {51},
number = {4},
pages = {693-805},
pmid = {30390178},
issn = {1573-0387},
support = {P50-HG-003391//National Human Genome Research Institute (US)/International ; R01-HG-008918/HG/NHGRI NIH HHS/United States ; },
mesh = {Bermuda ; Genomics/*history/legislation & jurisprudence/standards ; History, 20th Century ; History, 21st Century ; Human Genome Project/*history/legislation & jurisprudence ; Humans ; Information Dissemination/*history/legislation & jurisprudence/methods ; Molecular Biology/*history ; *Organizational Policy ; United Kingdom ; United States ; },
abstract = {The Bermuda Principles for DNA sequence data sharing are an enduring legacy of the Human Genome Project (HGP). They were adopted by the HGP at a strategy meeting in Bermuda in February of 1996 and implemented in formal policies by early 1998, mandating daily release of HGP-funded DNA sequences into the public domain. The idea of daily sharing, we argue, emanated directly from strategies for large, goal-directed molecular biology projects first tested within the "community" of C. elegans researchers, and were introduced and defended for the HGP by the nematode biologists John Sulston and Robert Waterston. In the C. elegans community, and subsequently in the HGP, daily sharing served the pragmatic goals of quality control and project coordination. Yet in the HGP human genome, we also argue, the Bermuda Principles addressed concerns about gene patents impeding scientific advancement, and were aspirational and flexible in implementation and justification. They endured as an archetype for how rapid data sharing could be realized and rationalized, and permitted adaptation to the needs of various scientific communities. Yet in addition to the support of Sulston and Waterston, their adoption also depended on the clout of administrators at the US National Institutes of Health (NIH) and the UK nonprofit charity the Wellcome Trust, which together funded 90% of the HGP human sequencing effort. The other nations wishing to remain in the HGP consortium had to accommodate to the Bermuda Principles, requiring exceptions from incompatible existing or pending data access policies for publicly funded research in Germany, Japan, and France. We begin this story in 1963, with the biologist Sydney Brenner's proposal for a nematode research program at the Laboratory of Molecular Biology (LMB) at the University of Cambridge. We continue through 2003, with the completion of the HGP human reference genome, and conclude with observations about policy and the historiography of molecular biology.},
}

Bermuda
Genomics/*history/legislation & jurisprudence/standards
History, 20th Century
History, 21st Century
Human Genome Project/*history/legislation & jurisprudence
Humans
Information Dissemination/*history/legislation & jurisprudence/methods
Molecular Biology/*history
*Organizational Policy
United Kingdom
United States

@article {pmid30386945,
year = {2018},
author = {Green, ED and Donohue, CR},
title = {Special Issue Editors' Introduction: "Genomics and the Human Genome Project".},
journal = {Journal of the history of biology},
volume = {51},
number = {4},
pages = {625-629},
doi = {10.1007/s10739-018-9548-5},
pmid = {30386945},
issn = {1573-0387},
mesh = {Genomics/*history ; History, 20th Century ; History, 21st Century ; Human Genome Project/*history ; Humans ; },
}

Genomics/*history
History, 20th Century
History, 21st Century
Human Genome Project/*history
Humans

@article {pmid30386858,
year = {2018},
author = {Tan, SY and Furubayashi, JK},
title = {Jacques Lucien Monod (1910-1976): Co-discoverer of the operon system.},
journal = {Singapore medical journal},
volume = {59},
number = {10},
pages = {555-556},
pmid = {30386858},
issn = {0037-5675},
mesh = {France ; History, 20th Century ; Humans ; Molecular Biology/*history ; *Operon ; Philately ; Philosophy ; },
}

France
History, 20th Century
Humans
Molecular Biology/*history
*Operon
Philately
Philosophy

@article {pmid30382834,
year = {2018},
author = {Hanage, WP},
title = {From bacterial genomics to clinical epidemiology: an interview with Bill Hanage.},
journal = {BMC biology},
volume = {16},
number = {1},
pages = {122},
pmid = {30382834},
issn = {1741-7007},
mesh = {Clinical Medicine/*history ; Epidemiology/*history ; *Genome, Bacterial ; Genomics/*history ; History, 21st Century ; Massachusetts ; Microbiota/genetics ; Peer Review, Research ; Selection, Genetic ; },
abstract = {Bill Hanage is an Associate Professor of Epidemiology at Harvard School of Public Health, where he studies fundamental and applied epidemiology using genomic and evolutionary methods. Bill spoke to us about the different types of selection that determine pathogen populations, asking reviewers to highlight positives of papers, and whether we're closer to a causal framework for studying the microbiome.},
}

Clinical Medicine/*history
Epidemiology/*history
*Genome, Bacterial
Genomics/*history
History, 21st Century
Massachusetts
Microbiota/genetics
Peer Review, Research
Selection, Genetic

@article {pmid30369473,
year = {2018},
author = {Chen, F and Lu, DR and Zhang, FX and Zhang, GF},
title = {[The development of genetics teaching in China in the last four decades and its future prospect].},
journal = {Yi chuan = Hereditas},
volume = {40},
number = {10},
pages = {916-923},
doi = {10.16288/j.yczz.18-171},
pmid = {30369473},
issn = {0253-9772},
mesh = {China ; Genetics/*education/history/standards ; History, 20th Century ; History, 21st Century ; Humans ; Teaching/education/*history/standards ; },
abstract = {Chinese genetics educators have carried out a comprehensive and systematic exploration and reform since 1978. With the guidance and help of the Genetics Society of China, they have made significant strides in the fields of genetics teaching system, publication of genetics textbooks, content of genetics teaching, workshop on genetics teaching, experimental teaching, application of advanced techniques, etc. These efforts have made remarkable achievements and promoted the vitality of genetics. The comprehensive development of education and teaching has trained a large number of excellent genetic talents for the development of China's economy and society. Here, we sum up the overall achievements of the teaching reform and propose some suggestions on the future development of genetics teaching in China, hoping that the quality of genetics teaching in China will take a new step in the new era.},
}

China
Genetics/*education/history/standards
History, 20th Century
History, 21st Century
Humans
Teaching/education/*history/standards

@article {pmid30369465,
year = {2018},
author = {Sun, LY and Xing, QH and He, L},
title = {[Retrospect and prospect of the genetic research on birth defects in China].},
journal = {Yi chuan = Hereditas},
volume = {40},
number = {10},
pages = {800-813},
doi = {10.16288/j.yczz.18-181},
pmid = {30369465},
issn = {0253-9772},
mesh = {Animals ; China ; Congenital Abnormalities/*genetics/history ; Genetic Research/history ; History, 20th Century ; History, 21st Century ; Humans ; },
abstract = {An important part of China's "Healthy China 2030" planning is to lower the rate of birth defects. Because genetic factors contribute solely or collaboratively to about 80% of the occurrence of birth defects, genetic studies on birth defects can provide precise molecular targets for clinical screening, diagnosis and treatment. Genetic research on birth defects in China has developed by leaps and bounds since 1960s. At the same time, as related research achievements keep accumulating, translation of these scientific discoveries to clinical applications, with genetic counseling and testing as the core practices, has been developed and optimized. A close collaboration between genetic researches and clinical applications would provide reliable technical support for giving birth to more "healthy children" in China. This article firstly reviews China's history of genetic research on birth defects, then introduces current situation and hot topics of the research area at home and abroad and finally discusses about future trend and related clinical applications. In summary, an overall view is provided here for the readers to understand the development route of genetic research on birth defects in China.},
}

Animals
China
Congenital Abnormalities/*genetics/history
Genetic Research/history
History, 20th Century
History, 21st Century
Humans

@article {pmid30337139,
year = {2018},
author = {Lowe, JWE},
title = {Sequencing through thick and thin: Historiographical and philosophical implications.},
journal = {Studies in history and philosophy of biological and biomedical sciences},
volume = {72},
number = {},
pages = {10-27},
doi = {10.1016/j.shpsc.2018.10.007},
pmid = {30337139},
issn = {1879-2499},
mesh = {Animals ; *Genome ; Genomics/*history ; *Historiography ; History, 21st Century ; *Philosophy ; Sequence Analysis, DNA/history/*veterinary ; Sus scrofa/*genetics ; },
abstract = {DNA sequencing has been characterised by scholars and life scientists as an example of 'big', 'fast' and 'automated' science in biology. This paper argues, however, that these characterisations are a product of a particular interpretation of what sequencing is, what I call 'thin sequencing'. The 'thin sequencing' perspective focuses on the determination of the order of bases in a particular stretch of DNA. Based upon my research on the pig genome mapping and sequencing projects, I provide an alternative 'thick sequencing' perspective, which also includes a number of practices that enable the sequence to travel across and be used in wider communities. If we take sequencing in the thin manner to be an event demarcated by the determination of sequences in automated sequencing machines and computers, this has consequences for the historical analysis of sequencing projects, as it focuses attention on those parts of the work of sequencing that are more centralised, fast (and accelerating) and automated. I argue instead that sequencing can be interpreted as a more open-ended process including activities such as the generation of a minimum tile path or annotation, and detail the historiographical and philosophical consequences of this move.},
}

Animals
*Genome
Genomics/*history
*Historiography
History, 21st Century
*Philosophy
Sequence Analysis, DNA/history/*veterinary
Sus scrofa/*genetics

@article {pmid30307501,
year = {2018},
author = {},
title = {Society for Glycobiology Awards - 2018.},
journal = {Glycobiology},
volume = {28},
number = {12},
pages = {906-909},
doi = {10.1093/glycob/cwy086},
pmid = {30307501},
issn = {1460-2423},
mesh = {*Awards and Prizes ; Glycomics/*history ; History, 21st Century ; Societies, Scientific/history ; },
}

*Awards and Prizes
Glycomics/*history
History, 21st Century
Societies, Scientific/history

@article {pmid30287513,
year = {2018},
author = {van Dijk, PJ and Weissing, FJ and Ellis, THN},
title = {How Mendel's Interest in Inheritance Grew out of Plant Improvement.},
journal = {Genetics},
volume = {210},
number = {2},
pages = {347-355},
pmid = {30287513},
issn = {1943-2631},
mesh = {Genetics/*history ; History, 19th Century ; Plant Breeding/*history/methods ; Plant Diseases ; },
abstract = {Despite the fact that Gregor Mendel is generally respected as the founder of genetics, little is known about the origin of and motivation for his revolutionary work. No primary sources are known that discuss his work during the period of his pea crossing experiments. Here, we report on two previously unknown interconnected local newspaper articles about Mendel's work that predate his famous Pisum lectures by 4 years. These articles describe Mendel as a plant breeder and a horticulturist. We argue that Mendel's initial interests concerned crop improvement, but that with time he became more interested in fundamental questions about inheritance, fertilization, and natural hybridization.},
}

Genetics/*history
History, 19th Century
Plant Breeding/*history/methods
Plant Diseases

@article {pmid30287512,
year = {2018},
author = {Haloupek, N},
title = {Philip Hieter: 2018 George W. Beadle Award.},
journal = {Genetics},
volume = {210},
number = {2},
pages = {345-346},
pmid = {30287512},
issn = {1943-2631},
mesh = {*Awards and Prizes ; Genetics/*history ; History, 21st Century ; Societies, Scientific ; United States ; },
abstract = {The Genetics Society of America's (GSA) George W. Beadle Award honors individuals who have made outstanding contributions to the community of genetics researchers and who exemplify the qualities of its namesake. For his work fostering communication and collaboration among members of the many subfields of genetics, Philip Hieter of the University of British Columbia has been named 2018's recipient of the award. Among his contributions are many initiatives that aim to better link human and model organism geneticists, including the Canadian Rare Diseases Models and Mechanisms Network-a consortium that connects investigators who identify rare disease genes in humans to basic scientists who can study the genes in model organisms.},
}

*Awards and Prizes
Genetics/*history
History, 21st Century
Societies, Scientific
United States

@article {pmid30265852,
year = {2018},
author = {Jonna, S and Giaccone, G and Subramaniam, DS},
title = {Understanding molecular diagnostic technology in oncology through the lens of lung cancer.},
journal = {Discovery medicine},
volume = {26},
number = {141},
pages = {21-29},
pmid = {30265852},
issn = {1944-7930},
mesh = {High-Throughput Nucleotide Sequencing ; History, 21st Century ; Humans ; Lung Neoplasms/drug therapy/*genetics ; *Medical Oncology ; Pathology, Molecular/history/*methods ; Protein Kinase Inhibitors/therapeutic use ; },
abstract = {Historically, advanced lung cancer conferred a poor prognosis, and chemotherapy only improved outcomes in patients with good performance status. The identification of certain molecular subtypes of non-small cell lung cancer changed the treatment paradigm by incorporating tumor genomic information into clinical decision-making. To meet the demands of this emerging approach, genomic technology rapidly expanded in an effort to detect specific driver mutations. While polymerase-chain reaction testing, immunohistochemistry, and fluorescent-in-situ hybridization have been standard-of-care, next-generation sequencing is increasingly replacing older technologies. Plasma-based testing is also gaining use given its convenience. Advances in molecular technology in this new era of precision medicine have led to the parallel development of companion diagnostics and novel tyrosine kinase inhibitors.},
}

High-Throughput Nucleotide Sequencing
History, 21st Century
Humans
Lung Neoplasms/drug therapy/*genetics
*Medical Oncology
Pathology, Molecular/history/*methods
Protein Kinase Inhibitors/therapeutic use

@article {pmid30264379,
year = {2018},
author = {Nicoglou, A},
title = {Waddington's epigenetics or the pictorial meetings of development and genetics.},
journal = {History and philosophy of the life sciences},
volume = {40},
number = {4},
pages = {61},
doi = {10.1007/s40656-018-0228-8},
pmid = {30264379},
issn = {0391-9714},
support = {ANR-11-IDEX-0005-02//French government through its "Investments for the Future" Program operated by the French National Research Agency (ANR)/ ; },
mesh = {Animals ; Biological Evolution ; Developmental Biology/*history ; Embryology/*history ; *Epigenesis, Genetic ; Epigenomics/*history ; History, 20th Century ; },
abstract = {In 1956, in his Principles of Embryology, Conrad Hal Waddington explained that the word "epigenetics" should be used to translate and update Wilhelm Roux' German notion of "Entwicklungsmechanik" (1890) to qualify the studies focusing on the mechanisms of development. When Waddington mentioned it in 1956, the notion of epigenetics was not yet popular, as it would become from the 1980s. However, Waddington referred first to the notion in the late 1930s. While his late allusion clearly reveals that Waddington readily associated the notion of epigenetics with the developmental process, in the contemporary uses of the notion this developmental connotation seems to have disappeared. The advent and success of molecular biology have probably contributed to focusing biologists' attention on the "genetic" or the "non-genetic" over the "developmental". In the present paper, I first examine the links that exist, in Waddington's work, between the classical notion of epigenesis in embryology and those of epigenetics that Waddington proposed to connect, and even synthesize, data both from embryology and genetics. Second, I show that Waddington's own view of epigenetics has changed over time and I analyze how these changes appear through his many representations (both schematic or metaphorical images) of the relationships between genetic signals and developmental processes.},
}

Animals
Biological Evolution
Developmental Biology/*history
Embryology/*history
*Epigenesis, Genetic
Epigenomics/*history
History, 20th Century

@article {pmid30224294,
year = {2018},
author = {Leeming, W and Barahona, A},
title = {Synthesis, convergence, and differences in the entangled histories of cytogenetics in medicine: A comparative study of Canada and Mexico.},
journal = {Studies in history and philosophy of biological and biomedical sciences},
volume = {71},
number = {},
pages = {8-16},
doi = {10.1016/j.shpsc.2018.08.002},
pmid = {30224294},
issn = {1879-2499},
mesh = {Canada ; Cytogenetics/*history ; History of Medicine ; History, 20th Century ; Humans ; Mexico ; },
abstract = {Most historians of science and medicine agree that medical interest in genetics intensified after 1930, and interest in the relationship of radiation damage and genetics continued and expanded after World War II. Moreover, they maintain that the synthesis and convergence of human genetics and cytological techniques in European centers resulted in their dissemination to centers in the United States, resulting in a new field of expertise focused on medicine and clinical research, known as cytogenetics. In this article, we broaden the scope of the inquiry by showing how the early histories of cytogenetics in Canada and Mexico unfolded against strikingly different backgrounds in clinical research and the delivery of health care. We thus argue that the field of cytogenetics did not emerge in a straightforward manner and develop in the same way in all countries. The article provides a brief background to the history of human cytogenetics, and then outlines key developments related to the early adoption of cytogenetics in Canada and Mexico. Conclusions are then drawn using comparisons of the different ways in which local determinants affected adoption. We then propose directions for future study focused on the ways in which circuits of practices, collaborative research, and transfers of knowledge have shaped how cytogenetics has come to be organised in medicine around the world.},
}

Canada
Cytogenetics/*history
History of Medicine
History, 20th Century
Humans
Mexico

@article {pmid30216089,
year = {2018},
author = {Wilson, JM},
title = {University Flunk-Out to Genomics Pioneer: An Interview with George Church, PhD.},
journal = {Human gene therapy. Clinical development},
volume = {29},
number = {3},
pages = {118-120},
doi = {10.1089/humc.2018.29035.int},
pmid = {30216089},
issn = {2324-8645},
mesh = {Genetic Therapy/*trends ; Genomics/*history ; History, 20th Century ; History, 21st Century ; Humans ; Universities ; },
}

Genetic Therapy/*trends
Genomics/*history
History, 20th Century
History, 21st Century
Humans
Universities

@article {pmid30200847,
year = {2018},
author = {Gottesman, S},
title = {Introduction.},
journal = {Annual review of microbiology},
volume = {72},
number = {},
pages = {i-ii},
doi = {10.1146/annurev-mi-72-070918-100001},
pmid = {30200847},
issn = {1545-3251},
mesh = {*Editorial Policies ; History, 20th Century ; History, 21st Century ; Microbiology/*history ; Molecular Biology/*history ; *Periodicals as Topic ; },
}

*Editorial Policies
History, 20th Century
History, 21st Century
Microbiology/*history
Molecular Biology/*history
*Periodicals as Topic

@article {pmid30200806,
year = {2018},
author = {Lieberman, J},
title = {Unveiling the RNA World.},
journal = {The New England journal of medicine},
volume = {379},
number = {13},
pages = {1278-1280},
doi = {10.1056/NEJMcibr1808725},
pmid = {30200806},
issn = {1533-4406},
mesh = {*Awards and Prizes ; Female ; History, 21st Century ; Humans ; Mentors/*history ; Molecular Biology/*history ; *RNA/physiology ; RNA, Small Untranslated/physiology ; Sexism/prevention & control ; United States ; },
}

*Awards and Prizes
Female
History, 21st Century
Humans
Mentors/*history
Molecular Biology/*history
*RNA/physiology
RNA, Small Untranslated/physiology
Sexism/prevention & control
United States

@article {pmid30194700,
year = {2019},
author = {Balzi, E and Moye-Rowley, WS},
title = {Unveiling the transcriptional control of pleiotropic drug resistance in Saccharomyces cerevisiae: Contributions of André Goffeau and his group.},
journal = {Yeast (Chichester, England)},
volume = {36},
number = {4},
pages = {195-200},
doi = {10.1002/yea.3354},
pmid = {30194700},
issn = {1097-0061},
support = {R01 GM049825/GM/NIGMS NIH HHS/United States ; },
mesh = {ATP-Binding Cassette Transporters ; Antifungal Agents/*pharmacology ; DNA-Binding Proteins/genetics ; Drug Resistance, Multiple, Fungal/*genetics ; *Gene Expression Regulation, Fungal ; History, 20th Century ; History, 21st Century ; Membrane Proteins/genetics ; Molecular Biology/history ; Saccharomyces cerevisiae/*drug effects/*genetics ; Saccharomyces cerevisiae Proteins/genetics ; Transcription Factors/genetics ; },
abstract = {Studies in the yeast Saccharomyces cerevisiae have provided much of the basic detail underlying the organization and regulation of multiple or pleiotropic drug resistance gene network in eukaryotic microbes. As with many aspects of yeast biology, the initial observations that drove the eventual molecular characterization of multidrug resistance gene were provided by genetics. This review focuses on contributions from the laboratory of Dr. André Goffeau that uncovered key aspects of the transcriptional regulation of these multidrug resistance genes. André's group made many seminal discoveries that helped lead to the current picture we have of how eukaryotic microbes respond to and deal with a variety of antifungal agents. The importance of the transcriptional contribution to antifungal drugs is illustrated by the large number of drug resistant mutants found in several yeast species that lead to increased activity of transcriptional regulators. The characterization of the Saccharomyces cerevisiae PDR1 gene by the Goffeau group provided the first molecular basis explaining the link between this hyperactive transcription factor and drug resistance.},
}

ATP-Binding Cassette Transporters
Antifungal Agents/*pharmacology
DNA-Binding Proteins/genetics
Drug Resistance, Multiple, Fungal/*genetics
*Gene Expression Regulation, Fungal
History, 20th Century
History, 21st Century
Membrane Proteins/genetics
Molecular Biology/history
Saccharomyces cerevisiae/*drug effects/*genetics
Saccharomyces cerevisiae Proteins/genetics
Transcription Factors/genetics