المؤلفون: Knowles, Joshua W, Xie, Weijia, Zhang, Zhongyang, Chennamsetty, Indumathi, Assimes, Themistocles L, Paananen, Jussi, Hansson, Ola, Pankow, James, Goodarzi, Mark O, Carcamo-Orive, Ivan, Morris, Andrew P, Chen, Yii-Der I, Mäkinen, Ville-Petteri, Ganna, Andrea, Mahajan, Anubha, Guo, Xiuqing, Abbasi, Fahim, Greenawalt, Danielle M, Lum, Pek, Molony, Cliona, Lind, Lars, Lindgren, Cecilia, Raffel, Leslie J, Tsao, Philip S, Schadt, Eric E, Rotter, Jerome I, Sinaiko, Alan, Reaven, Gerald, Yang, Xia, Hsiung, Chao A, Groop, Leif, Cordell, Heather J, Laakso, Markku, Hao, Ke, Ingelsson, Erik, Frayling, Timothy M, Weedon, Michael N, Walker, Mark, Quertermous, Thomas

المصدر: Journal of Clinical Investigation. 126(1)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Health Sciences, Genetics, Diabetes, Human Genome, Cardiovascular, Aetiology, 2.1 Biological and endogenous factors, Metabolic and endocrine, 3T3-L1 Cells, Adipogenesis, Adolescent, Adult, Animals, Arylamine N-Acetyltransferase, Asian People, Child, Coronary Disease, Europe, Female, Gene Frequency, Genome-Wide Association Study, Glucose, Glycated Hemoglobin, Hispanic or Latino, Humans, Hyperglycemia, Hypertriglyceridemia, Insulin Resistance, Isoenzymes, Lipolysis, Male, Mice, Mice, Knockout, Middle Aged, Mutation, Missense, Point Mutation, Polymorphism, Single Nucleotide, Prospective Studies, Taiwan, United States, White People, Young Adult, RISC (Relationship between Insulin Sensitivity and Cardiovascular Disease) Consortium, EUGENE2 (European Network on Functional Genomics of Type 2 Diabetes) Study, GUARDIAN (Genetics UndeRlying DIAbetes in HispaNics) Consortium, SAPPHIRe (Stanford Asian and Pacific Program for Hypertension and Insulin Resistance) Study, Medical and Health Sciences, Immunology, Biological sciences, Biomedical and clinical sciences, Health sciences

الوصول الحر: https://escholarship.org/uc/item/8cx070z3Test

المؤلفون: Price, Susan, Shaw, Pamela A, Seitz, Amy, Joshi, Gyan, Davis, Joie, Niemela, Julie E, Perkins, Katie, Hornung, Ronald L, Folio, Les, Rosenberg, Philip S, Puck, Jennifer M, Hsu, Amy P, Lo, Bernice, Pittaluga, Stefania, Jaffe, Elaine S, Fleisher, Thomas A, Rao, V Koneti, Lenardo, Michael J

المصدر: Blood. 123(13)

مصطلحات موضوعية: Cancer, Lymphoma, Brain Disorders, Rare Diseases, Genetics, Clinical Research, Hematology, Autoimmune Disease, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Adult, Autoimmune Lymphoproliferative Syndrome, Cell Proliferation, Child, Disease Progression, Female, Follow-Up Studies, Humans, Lymphocytes, Male, Middle Aged, Mutation, Penetrance, Young Adult, fas Receptor, Cardiorespiratory Medicine and Haematology, Clinical Sciences, Paediatrics and Reproductive Medicine, Immunology

الوصول الحر: https://escholarship.org/uc/item/1md3485cTest

المؤلفون: Sigurgeir Olafsson, Inigo Martincorena, Bernard C H Lee, Sara Galavotti, Philip S. Robinson, Federico Abascal, Lynn Martin, Michael R. Stratton, Claire Palles, Raheleh Rahbari, James Hewinson, Andrew R. J. Lawson, Luiza Moore, Mathijs A. Sanders, Ian Tomlinson, Emily Mitchell, Tim H. H. Coorens, Peter J. Campbell, Henry Lee-Six, Claudia Maria Assunta Pinna

المساهمون: Robinson, Philip S. [0000-0002-6237-7159], Coorens, Tim H. H. [0000-0002-5826-3554], Abascal, Federico [0000-0002-6201-1587], Lee-Six, Henry [0000-0003-4831-8088], Moore, Luiza [0000-0001-5315-516X], Pinna, Claudia M. A. [0000-0002-5618-7842], Rahbari, Raheleh [0000-0002-1839-7785], Campbell, Peter J. [0000-0002-3921-0510], Martincorena, Iñigo [0000-0003-1122-4416], Tomlinson, Ian [0000-0003-3037-1470], Stratton, Michael R. [0000-0001-6035-153X], Apollo - University of Cambridge Repository, Hematology, Robinson, Philip S [0000-0002-6237-7159], Coorens, Tim HH [0000-0002-5826-3554], Pinna, Claudia MA [0000-0002-5618-7842], Campbell, Peter J [0000-0002-3921-0510], Stratton, Michael R [0000-0001-6035-153X]

المصدر: Nature Genetics
Nature Genetics, 53(10), 1434-1442. Nature Publishing Group
Robinson, P, H. Coorens, T H, Palles, C, Mitchell, E, Abascal, F, Olafsson, S, Lee, B, Lawson, A, Lee-Six, H, Moore, L, A. Sanders, M, Hewinson, J, J. Campbell, P, Martincorena, I, Tomlinson, I P M & Stratton, M 2021, ' Increased somatic mutation burdens in normal human cells due to defective DNA polymerases ', Nature Genetics . https://doi.org/10.1038/s41588-021-00930-yTest

مصطلحات موضوعية: Premature aging, Adult, Adolescent, DNA polymerase, Somatic cell, Embryonic Development, medicine.disease_cause, Germline, Article, Gastrointestinal cancer, Young Adult, Germline mutation, SDG 3 - Good Health and Well-being, Intestinal Neoplasms, Genetics, medicine, Humans, Germ-Line Mutation, Phylogeny, Aged, DNA Polymerase III, Mutation, POLD1, biology, Genome, Human, Stem Cells, 631/443/7, Genomics, DNA Polymerase II, Mutation Accumulation, Middle Aged, 631/67/1504, Intestines, Ageing, Mutagenesis, 631/208/212, biology.protein

وصف الملف: application/pdf; text/xml; application/zip

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c22cab3cc27211c82c6f6f1912a75f1eTest
http://europepmc.org/articles/PMC8492474Test

المؤلفون: Parl, Fritz F., Dupont, William D., Crooke, Philip S.

المصدر: https://journals.sagepub.com/doi/pdf/10.1177/1176935119842573Test.

مصطلحات موضوعية: genetics, mutation

الإتاحة: https://doi.org/10.1177/1176935119842573Test
https://ir.vanderbilt.edu/xmlui/handle/1803/9896Test

المؤلفون: Inigo Martincorena, Hannah West, Philip S. Robinson, Federico Abascal, Hyunchul Jung, Laura Butlin, Nicola Lander, Laura E. Thomas, Roxanne Brunton-Sim, Rogier ten Hoopen, Tim H. H. Coorens, Michael R. Stratton, Henry Lee-Six, Simon M. Rushbrook, Kourosh Saeb-Parsy, Mathijs A. Sanders, Bernard C H Lee, Luke M. R. Harvey, Fiona Lalloo, Nicholas Coleman, Peter J. Campbell, Sigurgeir Olafsson, Simon J.A. Buczacki, Julian R. Sampson, Stefanie V Lensing

مصطلحات موضوعية: Genetics, Mutation rate, Mutation, Germline mutation, MUTYH, Somatic cell, Point mutation, medicine, Base excision repair, Biology, medicine.disease_cause, Germline

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d3cad32a92d4fb21b709b32ce51875aaTest
https://doi.org/10.1101/2021.10.20.465093Test

المؤلفون: Alexander O. Flynn-Carroll, Julie A. Lynch, Emre Aldinc, Aimee M. Deaton, Paul Nioi, Akshay Vaishnaw, David Erbe, Kyong-Mi Chang, Lucas D. Ward, Simina Ticau, Philip S. Tsao, Daniel J. Rader, Gregory Hinkle, Margaret M. Parker, Scott M. Damrauer, Jacob Joseph, Leland E. Hull, Themistocles L. Assimes, Kevin Fitzgerald, Catherine Tcheandjieu, Julian D. Gillmore, Philip N. Hawkins

المصدر: Scientific Reports
Scientific Reports, Vol 11, Iss 1, Pp 1-10 (2021)

مصطلحات موضوعية: Male, Physiology, Cardiomyopathy, Gene Expression, Diseases, Disease, 030204 cardiovascular system & hematology, 0302 clinical medicine, Prevalence, Prealbumin, Cumulative incidence, 030212 general & internal medicine, Signs and symptoms, Biological Specimen Banks, Multidisciplinary, biology, Drug discovery, Amyloidosis, Middle Aged, Biobank, Phenotype, Medicine, Female, Cardiomyopathies, Polyneuropathy, Adult, Heterozygote, medicine.medical_specialty, Science, Black People, Article, Polyneuropathies, 03 medical and health sciences, Internal medicine, Genetics, medicine, Humans, Aged, Heart Failure, Amyloid Neuropathies, Familial, business.industry, Odds ratio, medicine.disease, United Kingdom, Computational biology and bioinformatics, Transthyretin, Amino Acid Substitution, Mutation, biology.protein, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00339ff4ef9ff890ef744cd5b0f5de92Test
https://doi.org/10.1038/s41598-021-91113-6Test

المؤلفون: Yvette Hooks, Mathijs A. Sanders, Scott Lindhorst, Christoffer Flensburg, Patrick Tomboc, Peter J. Campbell, Michael R. Stratton, Philip S. Robinson, Vanessa Bianchi, Moritz Gerstung, Tim H. H. Coorens, Agnes Reschke, Luiza Moore, Harald Vöhringer, Uri Tabori, Victoria J. Forster, Tim Butler, Brittany Campbell, Henry Lee-Six, Adam Shlien, Ultan McDermott, Duncan Stearns, Rebecca A. Bilardi, Melissa Edwards, Bruce Crooks, Ian J. Majewski, Elizabeth Cairney

مصطلحات موضوعية: Genetics, MSH6, Mutation, Germline mutation, MSH2, medicine, PMS2, Somatic hypermutation, DNA mismatch repair, Neoplastic transformation, Biology, medicine.disease_cause

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::077ce093748fea5147aefd7c18b8e3f5Test
https://doi.org/10.1101/2021.04.14.437578Test

المؤلفون: Derek Klarin, Lin Chang, Sarah E. Graham, Brooke N. Wolford, Jonathan L. Eliason, Ben Michael Brumpton, Minerva T. Garcia-Barrio, Kristian Hveem, Michael R. Mathis, Santhi K. Ganesh, Gao Wang, Wei Zhou, Maoxuan Lin, Ida Surakka, Saiju Pyarajan, Bo Yang, Dianna M. Milewicz, Jifeng Zhang, Zhenguo Wang, Michael J. Shea, Dongchuan Guo, Anne Heidi Skogholt, Karen Meekyong Kim, Chad M. Brummett, Bjørn Olav Åsvold, Tori L. Melendez, Kim A. Eagle, Bradley Crone, Poornima Devineni, Philip S. Tsao, Whitney E. Hornsby, Haocheng Lu, Y. Eugene Chen, Scott M. Damrauer, Cristen J. Willer, Tanmoy Roychowdhury, Himanshu J. Patel, Suzanne M. Leal, Anoop K Sendamarai, G. Michael Deeb, VA Million Veteran Program

المصدر: Am J Hum Genet

مصطلحات موضوعية: Michigan, Quantitative Trait Loci, Locus (genetics), Genome-wide association study, Type 2 diabetes, Disease, Bioinformatics, Thoracic aortic aneurysm, complex mixtures, Muscle, Smooth, Vascular, Article, parasitic diseases, Genetics, Medicine, Humans, Genetics (clinical), Aorta, Genetic association, bcl-2-Associated X Protein, Aortic Aneurysm, Thoracic, business.industry, Caspase 3, Genome, Human, Endothelial Cells, medicine.disease, digestive system diseases, Introns, Diabetes Mellitus, Type 2, Gene Expression Regulation, Proto-Oncogene Proteins c-bcl-2, Case-Control Studies, Expression quantitative trait loci, Mutation, business, TCF7L2, Transcription Factor 7-Like 2 Protein, Genome-Wide Association Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::774b58c739f2f84555c5180c22d79920Test
https://pubmed.ncbi.nlm.nih.gov/34265237Test

المؤلفون: Sigurgeir Olafsson, Mathijs A. Sanders, Claudia M.A. Pinna, Michael R. Stratton, Philip S. Robinson, Andrew R. J. Lawson, Tim H. H. Coorens, Federico Abascal, Inigo Martincorena, Peter J. Campbell, Henry Lee-Six, Luiza Moore, Ian Tomlinson, Bernard C H Lee, Emily Mitchell, Sara Galvotti, Lynn Martin, Claire Palles, James Hewinson

مصطلحات موضوعية: Genetics, Exonuclease, Mutation, Germline mutation, POLD1, biology, Somatic cell, DNA polymerase, biology.protein, medicine, Mutation Accumulation, medicine.disease_cause, Germline

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ffa3c6fec2ecfe2654d8bd2324a5f334Test
https://doi.org/10.1101/2020.06.23.167668Test

المؤلفون: Graham A. Hood, Philip S. Poole, Harrison Steel, Paul J. Rutten, Barney A. Geddes, Antonis Papachristodoulou, Vinoy K. Ramachandran, Lucie McMurtry

المصدر: PLoS Genetics
PLoS Genetics, Vol 17, Iss 2, p e1009099 (2021)

مصطلحات موضوعية: 0106 biological sciences, Cancer Research, Histidine Kinase, Physiology, Gene Expression, Artificial Gene Amplification and Extension, Plant Science, QH426-470, medicine.disease_cause, Biochemistry, Polymerase Chain Reaction, 01 natural sciences, Transcription (biology), Nucleic Acids, Gene expression, Genetics (clinical), Regulation of gene expression, 0303 health sciences, biology, Fabaceae, Cell biology, Chemistry, Plant Physiology, Physical Sciences, Rhizobium, Research Article, Chemical Elements, Research and Analysis Methods, Rhizobium leguminosarum, Rhizobia, 03 medical and health sciences, Bacterial Proteins, Symbiosis, Nitrogen Fixation, DNA-binding proteins, Operon, Genetics, medicine, Gene Regulation, Operons, Molecular Biology Techniques, Molecular Biology, Transcription factor, Ecology, Evolution, Behavior and Systematics, 030304 developmental biology, Biology and Life Sciences, Proteins, DNA, Gene Expression Regulation, Bacterial, biology.organism_classification, Regulatory Proteins, Oxygen, Species Interactions, Mutation, Transcription Factors, 010606 plant biology & botany

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f27e8ebad81705bb11a0c79d919d7d37Test
https://doi.org/10.1371/journal.pgen.1009099Test