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검색어 : 통합검색[Human molecular genetics 3]

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911

Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants

Kathiresan, Sekar; Voight, Benjamin F; Purcell, Shaun; Musunuru, Kiran; Ardissino, Diego; Mannucci, Pier M; Anand, Sonia; Engert, James C; Samani, Nilesh J; Schunkert, Heribert; Erdmann, Jeanette; Reilly, Muredach P; Rader, Daniel J; Morgan, Thomas; Spertus, John A; Stoll, Monika; Girelli, Domenico; McKeown, Pascal P; Patterson, Chris C; Siscovick, David S; O'Donnell, Christopher J; Elosua, Roberto; Peltonen, Leena; Salomaa, Veikko; Schwartz, Stephen M; Melander, Olle; Altshuler, David; Ardissino, Diego; Merlini, Pier Angelica; Berzuini, Carlo; Bernardinelli, Luisa; Peyvandi, Flora; Tubaro, Marco; Celli, Patrizia; Ferrario, Maurizio; Fetiveau, Raffaela; Marziliano, Nicola; Casari, Giorgio; Galli, Michele; Ribichini, Flavio; Rossi, Marco; Bernardi, Francesco; Zonzin, Pietro; Piazza, Alberto; Mannucci, Pier M; Schwartz, Stephen M; Siscovick, David S; Yee, Jean; Friedlander, Yechiel; Elosua, Roberto; [1] Cardiovascular Research Center and Cardiology Division, Massachusetts General Hospital, Boston, Massachusetts 02114, USA. [2] Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts 02114, USA. [3] Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA. [4] Department of Medicine, Harvard Medical School, Boston, Massachusetts 02115, USA.; [1] Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts 02114, USA. [2] Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA. [3] Department of Molecular Biology, Massachusetts General Hospital, Boston, Massachusetts, 02114, USA.; [1] Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts 02114, USA. [2] Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA. [3; (Nature genetics, v.41, 2009, pp.334-341)
912

A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment

Rendtorff, Nanna D; Zhu, Mei; Fagerheim, Toril; Antal, Torben L; Jones, MaryPat; Teslovich, Tanya M; Gillanders, Elizabeth M; Barmada, Michael; Teig, Erik; Trent, Jeffrey M; Friderici, Karen H; Stephan, Dietrich A; Tranebjærg, Lisbeth; 1Department of Medical Biochemistry and Genetics, Wilhelm Johannsen Centre for Functional Genomics, University of Copenhagen, Copenhagen, Denmark; 2Department of Microbiology and Molecular Genetics, Michigan State University, East Lansing, MI, USA; 3Department of Medical Genetics, University Hospital, Tromsø, Norway; 4The Kinase Signalling Laboratory, Biotech Research and Innovation Centre, Copenhagen, Denmark; 5Cancer Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA; 6Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA; 5Cancer Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA; 7Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA; 8Department of Otorhinolaryngology, University Hospital of Oslo, Oslo, Norway; [1] 5Cancer Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bet; (European journal of human genetics : EJHG, v.14, 2006, pp.1097-1105)
913

Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia

Henderson, R Alex; Williamson, Kathy; Cumming, Sally; Clarke, Michael P; Lynch, Sally Ann; Hanson, Isabel M; FitzPatrick, David R; Sisodiya, Sanjay; van Heyningen, Veronica; 1Newcastle upon Tyne Hospitals NHS Trust, Newcastle upon Tyne, NE1 4LP, UK; 2MRC Human Genetics Unit, Western General Hospital, Edinburgh, EH4 2XU, UK; 3Regional Molecular Genetics Laboratory, Addenbrooke's Hospital, Cambridge CB2 2QQ, UK; 1Newcastle upon Tyne Hospitals NHS Trust, Newcastle upon Tyne, NE1 4LP, UK; 1Newcastle upon Tyne Hospitals NHS Trust, Newcastle upon Tyne, NE1 4LP, UK; 4University of Edinburgh School of Molecular and Clinical Medicine, Western General Hospital, Edinburgh, EH4 2XU, UK; 2MRC Human Genetics Unit, Western General Hospital, Edinburgh, EH4 2XU, UK; 5Department of Clinical and Experimental Epilepsy, Institute of Neurology, UCL, Queen Square, London WC1N 3BG, UK; 2MRC Human Genetics Unit, Western General Hospital, Edinburgh, EH4 2XU, UK; (European journal of human genetics : EJHG, v.15, 2007, pp.898-901)
914

The Mechanism of HIV-1 Core Assembly: Insights from Three-Dimensional Reconstructions of Authentic Virions

Briggs, John A.G.; Grü newald, Kay; Glass, Bä rbel; Fö rster, Friedrich; Krä usslich, Hans-Georg; Fuller, Stephen D.; Division of Structural Biology, Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Headington, Oxford, OX3 7BN, United Kingdom; Department of Molecular Structural Biology, Max-Planck-Institut fü r Biochemie, D-82152 Martinsried, Germany; Department of Virology, Universitä tsklinikum Heidelberg, Im Neuenheimer Feld 324, D-69120 Heidelberg, Germany; Department of Molecular Structural Biology, Max-Planck-Institut fü r Biochemie, D-82152 Martinsried, Germany; Department of Virology, Universitä tsklinikum Heidelberg, Im Neuenheimer Feld 324, D-69120 Heidelberg, Germany; Division of Structural Biology, Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Headington, Oxford, OX3 7BN, United Kingdom; (Structure, v.14, 2006, pp.15-20)
915

Development and Validation of Risk Models to Select Ever-Smokers for CT Lung Cancer Screening

Katki Hormuzd A.; Kovalchik Stephanie A.; Berg Christine D.; Cheung Li C.; Chaturvedi Anil K.; Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland; Institute of Sport, Exercise and Active Living, Victoria University, Melbourne, Australia; Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland3Department of Radiation Oncology and Molecular Radiation Sciences, Johns Hopkins Medicine,; Information Management Services Inc, Calverton, Maryland; Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland; (JAMA, v.315, 2016, pp.2300)
916

DDX5 resolves R-loops at DNA double-strand breaks to promote DNA repair and avoid chromosomal deletions

Yu, Zhenbao; Mersaoui, Sofiane Y; Guitton-Sert, Laure; Coulombe, Yan; Song, Jingwen; Masson, Jean-Yves; Richard, Sté phane; Segal Cancer Center, Lady Davis Institute for Medical Research and Gerald Bronfman Department of Oncology and Departments of Biochemistry, Human Genetics and Medicine, McGill University , Montré al, Qué bec H3T 1E2, Canada; Genome Stability Laboratory, CHU de Qué bec Research Center, Oncology Axis, Department of Molecular Biology, Medical Biochemistry and Pathology, Laval University Cancer Research Center , 9 McMahon, Qué bec City, Qué bec G1R 3S3, Canada; Genome Stability Laboratory, CHU de Qué bec Research Center, Oncology Axis, Department of Molecular Biology, Medical Biochemistry and Pathology, Laval University Cancer Research Center , 9 McMahon, Qué bec City, Qué bec G1R 3S3, Canada; Segal Cancer Center, Lady Davis Institute for Medical Research and Gerald Bronfman Department of Oncology and Departments of Biochemistry, Human Genetics and Me; (Nar cancer, v.2, 2020, pp.zcaa028)
917

Regulated and Polarized PtdIns(3,4,5)P3 Accumulation Is Essential for Apical Membrane Morphogenesis in Photoreceptor Epithelial Cells

Pinal, Noelia; Goberdhan, Deborah C.I.; Collinson, Lucy; Fujita, Yasuyuki; Cox, Iain M.; Wilson, Clive; Pichaud, Franck; Medical Research Council Laboratory for Molecular Cell Biology and Cell Biology Unit, Department of Anatomy and Developmental Biology, University College London, Gower Street, WC1E 6BT London, United Kingdom; Department of Human Anatomy and Genetics, University of Oxford, South Parks Road, OX1 3QX Oxford, United Kingdom; Medical Research Council Laboratory for Molecular Cell Biology and Cell Biology Unit, Department of Anatomy and Developmental Biology, University College London, Gower Street, WC1E 6BT London, United Kingdom; Medical Research Council Laboratory for Molecular Cell Biology and Cell Biology Unit, Department of Anatomy and Developmental Biology, University College London, Gower Street, WC1E 6BT London, United Kingdom; Department of Human Anatomy and Genetics, University of Oxford, South Parks Road, OX1 3QX Oxford, United Kingdom; Department of Human Anatomy and Genetics, University of Oxford, South Parks Road, OX1 3QX Oxford, United Kingdom; Medical Research Council; (Current biology : CB, v.16, 2006, pp.332-332)
918

Individual differences in cognition, affect, and performance: Behavioral, neuroimaging, and molecular genetic approaches

Parasuraman, R.; Jiang, Y.; ; (NeuroImage, v.59, 2012, pp.70-82)
919

Genetic Evidence for a Link Between Favorable Adiposity and Lower Risk of Type 2 Diabetes, Hypertension, and Heart Disease

Yaghootkar, Hanieh; Lotta, Luca A.; Tyrrell, Jessica; Smit, Roelof A.J.; Jones, Sam E.; Donnelly, Louise; Beaumont, Robin; Campbell, Archie; Tuke, Marcus A.; Hayward, Caroline; Ruth, Katherine S.; Padmanabhan, Sandosh; Jukema, J. Wouter; Palmer, Colin C.; Hattersley, Andrew; Freathy, Rachel M.; Langenberg, Claudia; Wareham, Nicholas J.; Wood, Andrew R.; Murray, Anna; Weedon, Michael N.; Sattar, Naveed; Pearson, Ewan; Scott, Robert A.; Frayling, Timothy M.; ¹Genetics of Human Complex Traits, University of Exeter Medical School, University of Exeter, Exeter, U.K.; ²Medical Research Council Epidemiology Unit, Institute of Metabolic Science, University of Cambridge School of Clinical Medicine, Cambridge, U.K.; ¹Genetics of Human Complex Traits, University of Exeter Medical School, University of Exeter, Exeter, U.K.; ³Department of Cardiology, Leiden University Medical Center, Leiden, the Netherlands; ¹Genetics of Human Complex Traits, University of Exeter Medical School, University of Exeter, Exeter, U.K.; ⁵Division of Cardiovascular & Diabetes Medicine, Medical Research Institute, University of Dundee, Dundee, U.K.; ¹Genetics of Human Complex Traits, University of Exeter Medical School, University of Exeter, Exeter, U.K.; ⁶Generation Scotland, Centre for Genomic and Experimental Medicine, Institute of Genetics and Molecular Medicine, University of; (Diabetes, v.65, 2016, pp.2448-2460)
920

Localization of a putative transcriptional regulator (ATRX) at pericentromeric heterochromatin and the short arms of acrocentric chromosomes

McDowell, T. L.; Gibbons, R. J.; Sutherland, H.; O’Rourke, D. M.; Bickmore, W. A.; Pombo, A.; Turley, H.; Gatter, K.; Picketts, D. J.; Buckle, V. J.; Chapman, L.; Rhodes, D.; Higgs, D. R.; Medical Research Council Molecular Haematology Unit, Institute of Molecular Medicine, Oxford OX3 9DS, United Kingdom; Nuffield Department of Clinical Biochemistry and Cellular Science, University of Oxford, Oxford OX3 9DU, United Kingdom; Sir William Dunn School of Pathology, University of Oxford, Oxford OX1 3RE, United Kingdom; Medical Research Council Human Genetics Unit, Edinburgh EH4 2XU, United Kingdom; Ottawa General Hospital Research Institute, Ottawa, ON, Canada K1H 8L6; and Medical Research...; Medical Research Council Molecular Haematology Unit, Institute of Molecular Medicine, Oxford OX3 9DS, United Kingdom; Nuffield Department of Clinical Biochemistry and Cellular Science, University of Oxford, Oxford OX3 9DU, United Kingdom; Sir William Dunn School of Pathology, University of Oxford, Oxford OX1 3RE, United Kingdom; Medical Research Council Human Genetics Unit, Edinburgh EH4 2XU, United Kingdom; Ottawa General Hospital Research Institute, Ottawa, ON, Canada K1H 8L6; and Me; (Proceedings of the National Academy of Sciences of the United States of America, v.96, 1999, pp.13983-13988)

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