المؤلفون: Morris, JA, Kemp, JP, Youlten, SE, Laurent, L, Logan, JG, Chai, RC, Vulpescu, NA, Forgetta, V, Kleinman, A, Mohanty, ST, Sergio, CM, Quinn, J, Nguyen-Yamamoto, L, Luco, A-L, Vijay, J, Simon, M-M, Pramatarova, A, Medina-Gomez, C, Trajanoska, K, Ghirardello, EJ, Butterfield, NC, Curry, KF, Leitch, VD, Sparkes, PC, Adoum, A-T, Mannan, NS, Komla-Ebri, DSK, Pollard, AS, Dewhurst, HF, Hassall, TAD, Beltejar, M-JG, Agee, M, Alipanahi, B, Auton, A, Bell, RK, Bryc, K, Elson, SL, Fontanillas, P, Furlotte, NA, McCreight, JC, Huber, KE, Litterman, NK, McIntyre, MH, Mountain, JL, Noblin, ES, Northover, CAM, Pitts, SJ, Sathirapongsasuti, JF, Sazonova, OV, Shelton, JF, Shringarpure, S, Tian, C, Tung, JY, Vacic, V, Wilson, CH, Adams, DJ, Vaillancourt, SM, Kaptoge, S, Baldock, P, Cooper, C, Reeve, J, Ntzani, EE, Evangelou, E, Ohlsson, C, Karasik, D, Rivadeneira, F, Kiel, DP, Tobias, JH, Gregson, CL, Harvey, NC, Grundberg, E, Goltzman, D, Lelliott, CJ, Hinds, DA, Ackert-Bicknell, CL, Hsu, Y-H, Maurano, MT, Croucher, PI, Williams, GR, Bassett, JHD, Evans, DM, Richards, JB

المساهمون: Wellcome Trust, Internal Medicine

المصدر: Nature Genetics, 51(2), 258-266. Nature Publishing Group
the 23 and Me Research Team, Morris, J A, Kemp, J P, Youlten, S E, Laurent, L, Logan, J G, Chai, R C, Vulpescu, N A, Forgetta, V, Kleinman, A, Mohanty, S T, Sergio, C M, Quinn, J, Nguyen-Yamamoto, L, Luco, A L, Vijay, J, Simon, M M, Pramatarova, A, Medina-Gomez, C, Trajanoska, K, Ghirardello, E J, Butterfield, N C, Curry, K F, Leitch, V D, Sparkes, P C, Adoum, A T, Mannan, N S, Komla-Ebri, D S K, Pollard, A S, Dewhurst, H F, Hassall, T A D, Beltejar, M J G, Agee, M, Alipanahi, B, Auton, A, Bell, R K, Bryc, K, Elson, S L, Fontanillas, P, Furlotte, N A, McCreight, J C, Huber, K E, Litterman, N K, McIntyre, M H, Mountain, J L, Wilson, C H, Cooper, C, Tobias, J H, Gregson, C L, Adams, D J & Evans, D M 2019, ' An atlas of genetic influences on osteoporosis in humans and mice ', Nature Genetics, vol. 51, pp. 258–266 . https://doi.org/10.1038/s41588-018-0302-x
Nature genetics

مصطلحات موضوعية: CHROMATIN, Male, Bone density, Osteoporosis, Genome-wide association study, Fractures, Bone, Mice, 0302 clinical medicine, Bone Density, CALCANEUS, 11 Medical and Health Sciences, Bone mineral, Genetics & Heredity, Mice, Knockout, 0303 health sciences, HERITABILITY, Middle Aged, Phenotype, 3. Good health, Female, BONE-MINERAL DENSITY, Life Sciences & Biomedicine, Adult, medicine.medical_specialty, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, 23andMe Research Team, Article, 03 medical and health sciences, FRACTURES, Internal medicine, Genetics, medicine, Animals, Humans, Genetic Predisposition to Disease, GENOME-WIDE ASSOCIATION, METAANALYSIS, HEEL, 030304 developmental biology, Aged, Science & Technology, HIP, Bone fracture, Odds ratio, 06 Biological Sciences, medicine.disease, Endocrinology, QUANTITATIVE ULTRASOUND, 030217 neurology & neurosurgery, Genome-Wide Association Study, Developmental Biology

وصف الملف: application/pdf; text; slideshow; spreadsheet

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::144c7600a65cf0f583134acbcbf5a1ba
http://hdl.handle.net/10044/1/66283

المؤلفون: Kemp, JP, Morris, JA, Medina-Gomez, C, Forgetta, V, Warrington, NM, Youlten, SE, Zheng, J, Gregson, CL, Grundberg, E, Trajanoska, K, Logan, JC, Pollard, AS, Sparkes, PC, Ghirardello, EJ, Allen, R, Butterfield, NC, Komla-Ebri, D, Adoum, AT, Curry, KF, White, JK, Kussy, F, Greenlaw, KM, Xu, C, Harvey, NC, Cooper, C, Adams, DJ, Greenwood, CMT, Maurano, MT, Kaptoge, SK, Rivadeneira, F, Tobias, JH, Croucher, PI, Ackert-Bicknell, C, Bassett, JHD, Williams, GR, Richards, JB, Evans, DM

المساهمون: Kaptoge, Stephen [0000-0002-1155-4872], Apollo - University of Cambridge Repository

مصطلحات موضوعية: musculoskeletal diseases, genetics research, genome-wide association studies, rheumatic diseases, health care economics and organizations

وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.spreadsheetml.sheet

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b00a021d00674188a5f523e4f28f8eb
https://www.repository.cam.ac.uk/handle/1810/267772

المؤلفون: Butterfield NC; Molecular Endocrinology Laboratory, Department of Metabolism, Digestion and Reproduction, Imperial College London, London, W12 0NN, UK., Curry KF; Molecular Endocrinology Laboratory, Department of Metabolism, Digestion and Reproduction, Imperial College London, London, W12 0NN, UK., Steinberg J; Institute of Translational Genomics, Helmholtz Zentrum München - German Research Center for Environmental Health, 85764, Neuherberg, Germany.; Wellcome Trust Sanger Institute, Hinxton, Cambridge, CB10 1SA, UK.; Cancer Council NSW, Sydney, NSW, 2000, Australia., Dewhurst H; Molecular Endocrinology Laboratory, Department of Metabolism, Digestion and Reproduction, Imperial College London, London, W12 0NN, UK., Komla-Ebri D; Molecular Endocrinology Laboratory, Department of Metabolism, Digestion and Reproduction, Imperial College London, London, W12 0NN, UK., Mannan NS; Molecular Endocrinology Laboratory, Department of Metabolism, Digestion and Reproduction, Imperial College London, London, W12 0NN, UK., Adoum AT; Molecular Endocrinology Laboratory, Department of Metabolism, Digestion and Reproduction, Imperial College London, London, W12 0NN, UK., Leitch VD; Molecular Endocrinology Laboratory, Department of Metabolism, Digestion and Reproduction, Imperial College London, London, W12 0NN, UK., Logan JG; Molecular Endocrinology Laboratory, Department of Metabolism, Digestion and Reproduction, Imperial College London, London, W12 0NN, UK., Waung JA; Molecular Endocrinology Laboratory, Department of Metabolism, Digestion and Reproduction, Imperial College London, London, W12 0NN, UK., Ghirardello E; Molecular Endocrinology Laboratory, Department of Metabolism, Digestion and Reproduction, Imperial College London, London, W12 0NN, UK., Southam L; Institute of Translational Genomics, Helmholtz Zentrum München - German Research Center for Environmental Health, 85764, Neuherberg, Germany.; Wellcome Trust Sanger Institute, Hinxton, Cambridge, CB10 1SA, UK., Youlten SE; The Garvan Institute of Medical Research and St. Vincent's Clinical School, University of New South Wales Medicine, Sydney, NSW, 2010, Australia., Wilkinson JM; Department of Oncology and Metabolism, University of Sheffield, Sheffield, S10 2RX, UK.; Centre for Integrated Research into Musculoskeletal Ageing and Sheffield Healthy Lifespan Institute, University of Sheffield, Sheffield, S10 2TN, UK., McAninch EA; Division of Endocrinology and Metabolism, Rush University Medical Center, Chicago, IL, 60612, USA., Vancollie VE; Wellcome Trust Sanger Institute, Hinxton, Cambridge, CB10 1SA, UK., Kussy F; Wellcome Trust Sanger Institute, Hinxton, Cambridge, CB10 1SA, UK., White JK; Wellcome Trust Sanger Institute, Hinxton, Cambridge, CB10 1SA, UK.; The Jackson Laboratory, Bar Harbor, ME, 04609, USA., Lelliott CJ; Wellcome Trust Sanger Institute, Hinxton, Cambridge, CB10 1SA, UK., Adams DJ; Wellcome Trust Sanger Institute, Hinxton, Cambridge, CB10 1SA, UK., Jacques R; School of Health and Related Research (ScHARR), University of Sheffield, Sheffield, S1 4DA, UK., Bianco AC; Section of Adult and Pediatric Endocrinology, Diabetes & Metabolism, Department of Medicine, University of Chicago, Chicago, IL, 60637, USA., Boyde A; Dental Physical Sciences, Queen Mary University of London, Mile End Road, London, E1 4NS, UK., Zeggini E; Institute of Translational Genomics, Helmholtz Zentrum München - German Research Center for Environmental Health, 85764, Neuherberg, Germany.; Wellcome Trust Sanger Institute, Hinxton, Cambridge, CB10 1SA, UK., Croucher PI; The Garvan Institute of Medical Research and St. Vincent's Clinical School, University of New South Wales Medicine, Sydney, NSW, 2010, Australia., Williams GR; Molecular Endocrinology Laboratory, Department of Metabolism, Digestion and Reproduction, Imperial College London, London, W12 0NN, UK. graham.williams@imperial.ac.uk., Bassett JHD; Molecular Endocrinology Laboratory, Department of Metabolism, Digestion and Reproduction, Imperial College London, London, W12 0NN, UK. d.bassett@imperial.ac.uk.

المصدر: Nature communications [Nat Commun] 2021 May 28; Vol. 12 (1), pp. 3302. Date of Electronic Publication: 2021 May 28.

نوع المنشور: Published Erratum

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: PubMed not MEDLINE; MEDLINE

المؤلفون: Butterfield NC; Molecular Endocrinology Laboratory, Department of Metabolism, Digestion and Reproduction, Imperial College London, London, W12 0NN, UK., Curry KF; Molecular Endocrinology Laboratory, Department of Metabolism, Digestion and Reproduction, Imperial College London, London, W12 0NN, UK., Steinberg J; Institute of Translational Genomics, Helmholtz Zentrum München - German Research Center for Environmental Health, 85764, Neuherberg, Germany.; Wellcome Trust Sanger Institute, Hinxton, Cambridge, CB10 1SA, UK.; Cancer Council NSW, Sydney, NSW, 2000, Australia., Dewhurst H; Molecular Endocrinology Laboratory, Department of Metabolism, Digestion and Reproduction, Imperial College London, London, W12 0NN, UK., Komla-Ebri D; Molecular Endocrinology Laboratory, Department of Metabolism, Digestion and Reproduction, Imperial College London, London, W12 0NN, UK., Mannan NS; Molecular Endocrinology Laboratory, Department of Metabolism, Digestion and Reproduction, Imperial College London, London, W12 0NN, UK., Adoum AT; Molecular Endocrinology Laboratory, Department of Metabolism, Digestion and Reproduction, Imperial College London, London, W12 0NN, UK., Leitch VD; Molecular Endocrinology Laboratory, Department of Metabolism, Digestion and Reproduction, Imperial College London, London, W12 0NN, UK., Logan JG; Molecular Endocrinology Laboratory, Department of Metabolism, Digestion and Reproduction, Imperial College London, London, W12 0NN, UK., Waung JA; Molecular Endocrinology Laboratory, Department of Metabolism, Digestion and Reproduction, Imperial College London, London, W12 0NN, UK., Ghirardello E; Molecular Endocrinology Laboratory, Department of Metabolism, Digestion and Reproduction, Imperial College London, London, W12 0NN, UK., Southam L; Institute of Translational Genomics, Helmholtz Zentrum München - German Research Center for Environmental Health, 85764, Neuherberg, Germany.; Wellcome Trust Sanger Institute, Hinxton, Cambridge, CB10 1SA, UK., Youlten SE; The Garvan Institute of Medical Research and St. Vincent's Clinical School, University of New South Wales Medicine, Sydney, NSW, 2010, Australia., Wilkinson JM; Department of Oncology and Metabolism, University of Sheffield, Sheffield, S10 2RX, UK.; Centre for Integrated Research into Musculoskeletal Ageing and Sheffield Healthy Lifespan Institute, University of Sheffield, Sheffield, S10 2TN, UK., McAninch EA; Division of Endocrinology and Metabolism, Rush University Medical Center, Chicago, IL, 60612, USA., Vancollie VE; Wellcome Trust Sanger Institute, Hinxton, Cambridge, CB10 1SA, UK., Kussy F; Wellcome Trust Sanger Institute, Hinxton, Cambridge, CB10 1SA, UK., White JK; Wellcome Trust Sanger Institute, Hinxton, Cambridge, CB10 1SA, UK.; The Jackson Laboratory, Bar Harbor, ME, 04609, USA., Lelliott CJ; Wellcome Trust Sanger Institute, Hinxton, Cambridge, CB10 1SA, UK., Adams DJ; Wellcome Trust Sanger Institute, Hinxton, Cambridge, CB10 1SA, UK., Jacques R; School of Health and Related Research (ScHARR), University of Sheffield, Sheffield, S1 4DA, UK., Bianco AC; Section of Adult and Pediatric Endocrinology, Diabetes & Metabolism, Department of Medicine, University of Chicago, Chicago, IL, 60637, USA., Boyde A; Dental Physical Sciences, Queen Mary University of London, Mile End Road, London, E1 4NS, UK., Zeggini E; Institute of Translational Genomics, Helmholtz Zentrum München - German Research Center for Environmental Health, 85764, Neuherberg, Germany.; Wellcome Trust Sanger Institute, Hinxton, Cambridge, CB10 1SA, UK., Croucher PI; The Garvan Institute of Medical Research and St. Vincent's Clinical School, University of New South Wales Medicine, Sydney, NSW, 2010, Australia., Williams GR; Molecular Endocrinology Laboratory, Department of Metabolism, Digestion and Reproduction, Imperial College London, London, W12 0NN, UK. graham.williams@imperial.ac.uk., Bassett JHD; Molecular Endocrinology Laboratory, Department of Metabolism, Digestion and Reproduction, Imperial College London, London, W12 0NN, UK. d.bassett@imperial.ac.uk.

المصدر: Nature communications [Nat Commun] 2021 Jan 20; Vol. 12 (1), pp. 467. Date of Electronic Publication: 2021 Jan 20.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Association Studies*, Genetic Predisposition to Disease/*genetics , Osteoarthritis/*genetics, Animals ; Bone and Bones/pathology ; CRISPR-Cas Systems ; Cartilage/pathology ; Clustered Regularly Interspaced Short Palindromic Repeats ; Disease Models, Animal ; Drug Discovery ; Gene Editing ; Gonadotropin-Releasing Hormone/genetics ; Iodide Peroxidase ; Mice ; Mice, Knockout ; Osteoarthritis/pathology ; Osteoarthritis/surgery ; Paired Box Transcription Factors/genetics ; Phenotype ; Iodothyronine Deiodinase Type II

المؤلفون: Morris JA; Department of Human Genetics, McGill University, Montréal, Québec, Canada.; Lady Davis Institute, Jewish General Hospital, McGill University, Montréal, Québec, Canada., Kemp JP; University of Queensland Diamantina Institute, Translational Research Institute, Brisbane, Queensland, Australia.; MRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK., Youlten SE; Garvan Institute of Medical Research, Sydney, New South Wales, Australia., Laurent L; Lady Davis Institute, Jewish General Hospital, McGill University, Montréal, Québec, Canada., Logan JG; Molecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London, UK., Chai RC; Garvan Institute of Medical Research, Sydney, New South Wales, Australia., Vulpescu NA; Institute for Systems Genetics, New York University Langone Medical Center, New York, NY, USA., Forgetta V; Lady Davis Institute, Jewish General Hospital, McGill University, Montréal, Québec, Canada., Kleinman A; Department of Research, 23andMe, Inc., Mountain View, CA, USA., Mohanty ST; Garvan Institute of Medical Research, Sydney, New South Wales, Australia., Sergio CM; Garvan Institute of Medical Research, Sydney, New South Wales, Australia., Quinn J; Garvan Institute of Medical Research, Sydney, New South Wales, Australia., Nguyen-Yamamoto L; Research Institute of the McGill University Health Centre, Montréal, Québec, Canada., Luco AL; Research Institute of the McGill University Health Centre, Montréal, Québec, Canada., Vijay J; McGill University and Genome Quebec Innovation Centre, Montréal, Québec, Canada., Simon MM; McGill University and Genome Quebec Innovation Centre, Montréal, Québec, Canada., Pramatarova A; McGill University and Genome Quebec Innovation Centre, Montréal, Québec, Canada., Medina-Gomez C; Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands., Trajanoska K; Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands., Ghirardello EJ; Molecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London, UK., Butterfield NC; Molecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London, UK., Curry KF; Molecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London, UK., Leitch VD; Molecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London, UK., Sparkes PC; Molecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London, UK., Adoum AT; Molecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London, UK., Mannan NS; Molecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London, UK., Komla-Ebri DSK; Molecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London, UK., Pollard AS; Molecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London, UK., Dewhurst HF; Molecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London, UK., Hassall TAD; University of Queensland Diamantina Institute, Translational Research Institute, Brisbane, Queensland, Australia., Beltejar MG; Department of Biomedical Genetics, University of Rochester, Rochester, NY, USA., Adams DJ; Department of Orthopedics, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Vaillancourt SM; Department of Medicine, McGill University, Montréal, Québec, Canada., Kaptoge S; Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK., Baldock P; Garvan Institute of Medical Research, Sydney, New South Wales, Australia., Cooper C; MRC Lifecourse Epidemiology Unit, University of Southampton, Southampton, UK.; NIHR Southampton Biomedical Research Centre, University of Southampton and University Hospital Southampton NHS Foundation Trust, Southampton, UK.; NIHR Oxford Biomedical Research Centre, University of Oxford, Oxford, UK., Reeve J; NIHR Oxford Biomedical Research Centre, University of Oxford, Oxford, UK., Ntzani EE; Department of Hygiene and Epidemiology, University of Ioannina Medical School, Ioannina, Greece.; Center for Evidence Synthesis in Health, Department of Health Services, Policy and Practice, School of Public Health, Brown University, Providence, RI, USA., Evangelou E; Department of Hygiene and Epidemiology, University of Ioannina Medical School, Ioannina, Greece.; Department of Epidemiology and Biostatistics, Imperial College London, London, UK., Ohlsson C; Department of Internal Medicine and Clinical Nutrition, University of Gothenburg, Gothenburg, Sweden., Karasik D; Institute for Aging Research, Hebrew SeniorLife, Boston, MA, USA., Rivadeneira F; Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands., Kiel DP; Institute for Aging Research, Hebrew SeniorLife, Boston, MA, USA.; Department of Medicine, Beth Israel Deaconess Medical Center, Boston, MA, USA.; Department of Medicine, Harvard Medical School, Boston, MA, USA.; Broad Institute of Harvard and Massachusetts Institute of Technology, Boston, MA, USA., Tobias JH; Musculoskeletal Research Unit, Department of Translational Health Sciences, University of Bristol, Bristol, UK., Gregson CL; Musculoskeletal Research Unit, Department of Translational Health Sciences, University of Bristol, Bristol, UK., Harvey NC; MRC Lifecourse Epidemiology Unit, University of Southampton, Southampton, UK.; NIHR Southampton Biomedical Research Centre, University of Southampton and University Hospital Southampton NHS Foundation Trust, Southampton, UK., Grundberg E; McGill University and Genome Quebec Innovation Centre, Montréal, Québec, Canada.; Children's Mercy Hospitals and Clinics, Kansas City, MO, USA., Goltzman D; Research Institute of the McGill University Health Centre, Montréal, Québec, Canada., Adams DJ; Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Lelliott CJ; Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Hinds DA; Department of Research, 23andMe, Inc., Mountain View, CA, USA., Ackert-Bicknell CL; Center for Musculoskeletal Research, Department of Orthopaedics, University of Rochester, Rochester, NY, USA., Hsu YH; Institute for Aging Research, Hebrew SeniorLife, Boston, MA, USA.; Department of Medicine, Beth Israel Deaconess Medical Center, Boston, MA, USA.; Department of Medicine, Harvard Medical School, Boston, MA, USA.; Broad Institute of Harvard and Massachusetts Institute of Technology, Boston, MA, USA., Maurano MT; Institute for Systems Genetics, New York University Langone Medical Center, New York, NY, USA., Croucher PI; Garvan Institute of Medical Research, Sydney, New South Wales, Australia., Williams GR; Molecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London, UK., Bassett JHD; Molecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London, UK., Evans DM; University of Queensland Diamantina Institute, Translational Research Institute, Brisbane, Queensland, Australia. d.evans1@uq.edu.au.; MRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK. d.evans1@uq.edu.au., Richards JB; Department of Human Genetics, McGill University, Montréal, Québec, Canada. brent.richards@mcgill.ca.; Lady Davis Institute, Jewish General Hospital, McGill University, Montréal, Québec, Canada. brent.richards@mcgill.ca.; Department of Medicine, McGill University, Montréal, Québec, Canada. brent.richards@mcgill.ca.; Department of Epidemiology, Biostatistics & Occupational Health, McGill University, Montréal, Québec, Canada. brent.richards@mcgill.ca.; Department of Twin Research and Genetic Epidemiology, King's College London, London, UK. brent.richards@mcgill.ca.

مؤلفون مشاركون: 23andMe Research Team

المصدر: Nature genetics [Nat Genet] 2019 May; Vol. 51 (5), pp. 920.

نوع المنشور: Journal Article; Published Erratum

بيانات الدورية: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: PubMed not MEDLINE

المؤلفون: Morris JA; Department of Human Genetics, McGill University, Montréal, Québec, Canada.; Lady Davis Institute, Jewish General Hospital, McGill University, Montréal, Québec, Canada., Kemp JP; University of Queensland Diamantina Institute, Translational Research Institute, Brisbane, Queensland, Australia.; MRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK., Youlten SE; Garvan Institute of Medical Research, Sydney, New South Wales, Australia., Laurent L; Lady Davis Institute, Jewish General Hospital, McGill University, Montréal, Québec, Canada., Logan JG; Molecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London, UK., Chai RC; Garvan Institute of Medical Research, Sydney, New South Wales, Australia., Vulpescu NA; Institute for Systems Genetics, New York University Langone Medical Center, New York, NY, USA., Forgetta V; Lady Davis Institute, Jewish General Hospital, McGill University, Montréal, Québec, Canada., Kleinman A; Department of Research, 23andMe, Inc., Mountain View, CA, USA., Mohanty ST; Garvan Institute of Medical Research, Sydney, New South Wales, Australia., Sergio CM; Garvan Institute of Medical Research, Sydney, New South Wales, Australia., Quinn J; Garvan Institute of Medical Research, Sydney, New South Wales, Australia., Nguyen-Yamamoto L; Research Institute of the McGill University Health Centre, Montréal, Québec, Canada., Luco AL; Research Institute of the McGill University Health Centre, Montréal, Québec, Canada., Vijay J; McGill University and Genome Quebec Innovation Centre, Montréal, Québec, Canada., Simon MM; McGill University and Genome Quebec Innovation Centre, Montréal, Québec, Canada., Pramatarova A; McGill University and Genome Quebec Innovation Centre, Montréal, Québec, Canada., Medina-Gomez C; Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands., Trajanoska K; Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands., Ghirardello EJ; Molecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London, UK., Butterfield NC; Molecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London, UK., Curry KF; Molecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London, UK., Leitch VD; Molecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London, UK., Sparkes PC; Molecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London, UK., Adoum AT; Molecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London, UK., Mannan NS; Molecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London, UK., Komla-Ebri DSK; Molecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London, UK., Pollard AS; Molecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London, UK., Dewhurst HF; Molecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London, UK., Hassall TAD; University of Queensland Diamantina Institute, Translational Research Institute, Brisbane, Queensland, Australia., Beltejar MG; Department of Biomedical Genetics, University of Rochester, Rochester, NY, USA., Adams DJ; Department of Orthopedics, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Vaillancourt SM; Department of Medicine, McGill University, Montréal, Québec, Canada., Kaptoge S; Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK., Baldock P; Garvan Institute of Medical Research, Sydney, New South Wales, Australia., Cooper C; MRC Lifecourse Epidemiology Unit, University of Southampton, Southampton, UK.; NIHR Southampton Biomedical Research Centre, University of Southampton and University Hospital Southampton NHS Foundation Trust, Southampton, UK.; NIHR Oxford Biomedical Research Centre, University of Oxford, Oxford, UK., Reeve J; NIHR Oxford Biomedical Research Centre, University of Oxford, Oxford, UK., Ntzani EE; Department of Hygiene and Epidemiology, University of Ioannina Medical School, Ioannina, Greece.; Center for Evidence Synthesis in Health, Department of Health Services, Policy and Practice, School of Public Health, Brown University, Providence, RI, USA., Evangelou E; Department of Hygiene and Epidemiology, University of Ioannina Medical School, Ioannina, Greece.; Department of Epidemiology and Biostatistics, Imperial College London, London, UK., Ohlsson C; Department of Internal Medicine and Clinical Nutrition, University of Gothenburg, Gothenburg, Sweden., Karasik D; Institute for Aging Research, Hebrew SeniorLife, Boston, MA, USA., Rivadeneira F; Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands., Kiel DP; Institute for Aging Research, Hebrew SeniorLife, Boston, MA, USA.; Department of Medicine, Beth Israel Deaconess Medical Center, Boston, MA, USA.; Department of Medicine, Harvard Medical School, Boston, MA, USA.; Broad Institute of Harvard and Massachusetts Institute of Technology, Boston, MA, USA., Tobias JH; Musculoskeletal Research Unit, Department of Translational Health Sciences, University of Bristol, Bristol, UK., Gregson CL; Musculoskeletal Research Unit, Department of Translational Health Sciences, University of Bristol, Bristol, UK., Harvey NC; MRC Lifecourse Epidemiology Unit, University of Southampton, Southampton, UK.; NIHR Southampton Biomedical Research Centre, University of Southampton and University Hospital Southampton NHS Foundation Trust, Southampton, UK., Grundberg E; McGill University and Genome Quebec Innovation Centre, Montréal, Québec, Canada.; Children's Mercy Hospitals and Clinics, Kansas City, MO, USA., Goltzman D; Research Institute of the McGill University Health Centre, Montréal, Québec, Canada., Adams DJ; Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Lelliott CJ; Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Hinds DA; Department of Research, 23andMe, Inc., Mountain View, CA, USA., Ackert-Bicknell CL; Center for Musculoskeletal Research, Department of Orthopaedics, University of Rochester, Rochester, NY, USA., Hsu YH; Institute for Aging Research, Hebrew SeniorLife, Boston, MA, USA.; Department of Medicine, Beth Israel Deaconess Medical Center, Boston, MA, USA.; Department of Medicine, Harvard Medical School, Boston, MA, USA.; Broad Institute of Harvard and Massachusetts Institute of Technology, Boston, MA, USA., Maurano MT; Institute for Systems Genetics, New York University Langone Medical Center, New York, NY, USA., Croucher PI; Garvan Institute of Medical Research, Sydney, New South Wales, Australia., Williams GR; Molecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London, UK., Bassett JHD; Molecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London, UK., Evans DM; University of Queensland Diamantina Institute, Translational Research Institute, Brisbane, Queensland, Australia. d.evans1@uq.edu.au.; MRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK. d.evans1@uq.edu.au., Richards JB; Department of Human Genetics, McGill University, Montréal, Québec, Canada. brent.richards@mcgill.ca.; Lady Davis Institute, Jewish General Hospital, McGill University, Montréal, Québec, Canada. brent.richards@mcgill.ca.; Department of Medicine, McGill University, Montréal, Québec, Canada. brent.richards@mcgill.ca.; Department of Epidemiology, Biostatistics & Occupational Health, McGill University, Montréal, Québec, Canada. brent.richards@mcgill.ca.; Department of Twin Research and Genetic Epidemiology, King's College London, London, UK. brent.richards@mcgill.ca.

مؤلفون مشاركون: 23andMe Research Team

المصدر: Nature genetics [Nat Genet] 2019 Feb; Vol. 51 (2), pp. 258-266. Date of Electronic Publication: 2018 Dec 31.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

مواضيع طبية MeSH: Bone Density/*genetics , Genetic Predisposition to Disease/*genetics , Osteoporosis/*genetics, Adult ; Aged ; Animals ; Female ; Fractures, Bone/genetics ; Genome-Wide Association Study/methods ; Humans ; Male ; Mice ; Mice, Knockout ; Middle Aged ; Phenotype ; Polymorphism, Single Nucleotide/genetics

المؤلفون: Jo S; Division of Endocrinology and Metabolism, Rush University Medical Center, Chicago, Illinois, USA., Fonseca TL; Section of Adult and Pediatric Endocrinology, Diabetes & Metabolism, Department of Medicine, University of Chicago, Chicago, Illinois, USA., Bocco BMLC; Section of Adult and Pediatric Endocrinology, Diabetes & Metabolism, Department of Medicine, University of Chicago, Chicago, Illinois, USA., Fernandes GW; Section of Adult and Pediatric Endocrinology, Diabetes & Metabolism, Department of Medicine, University of Chicago, Chicago, Illinois, USA., McAninch EA; Division of Endocrinology and Metabolism, Rush University Medical Center, Chicago, Illinois, USA., Bolin AP; Division of Endocrinology and Metabolism, Rush University Medical Center, Chicago, Illinois, USA.; Department of Pharmacology, Biomedical Science Institute, University of São Paulo, and., Da Conceição RR; Division of Endocrinology and Metabolism, Rush University Medical Center, Chicago, Illinois, USA.; Laboratory of Molecular and Translational Endocrinology, Department of Medicine, Federal University of São Paulo, São Paulo, SP, Brazil., Werneck-de-Castro JP; Division of Endocrinology and Metabolism, Rush University Medical Center, Chicago, Illinois, USA., Ignacio DL; Division of Endocrinology and Metabolism, Rush University Medical Center, Chicago, Illinois, USA., Egri P; Department of Endocrine Neurobiology, Institute of Experimental Medicine, Hungarian Academy of Sciences, Budapest, Hungary., Németh D; Department of Endocrine Neurobiology, Institute of Experimental Medicine, Hungarian Academy of Sciences, Budapest, Hungary., Fekete C; Department of Endocrine Neurobiology, Institute of Experimental Medicine, Hungarian Academy of Sciences, Budapest, Hungary., Bernardi MM; Graduate Program of Environmental and Experimental Pathology, Graduate Program of Dentistry, Universidade Paulista, São Paulo, SP, Brazil., Leitch VD; Molecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London, United Kingdom., Mannan NS; Molecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London, United Kingdom., Curry KF; Molecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London, United Kingdom., Butterfield NC; Molecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London, United Kingdom., Bassett JHD; Molecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London, United Kingdom., Williams GR; Molecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London, United Kingdom., Gereben B; Department of Endocrine Neurobiology, Institute of Experimental Medicine, Hungarian Academy of Sciences, Budapest, Hungary., Ribeiro MO; Developmental Disorders Program, Center of Biological Science and Health, Mackenzie Presbyterian University, São Paulo, SP, Brazil., Bianco AC; Section of Adult and Pediatric Endocrinology, Diabetes & Metabolism, Department of Medicine, University of Chicago, Chicago, Illinois, USA.

المصدر: The Journal of clinical investigation [J Clin Invest] 2019 Jan 02; Vol. 129 (1), pp. 230-245. Date of Electronic Publication: 2018 Dec 03.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

مواضيع طبية MeSH: Brain*/enzymology , Brain*/pathology , Endoplasmic Reticulum Stress* , Hypothyroidism*/drug therapy , Hypothyroidism*/enzymology , Hypothyroidism*/genetics , Hypothyroidism*/pathology , Iodide Peroxidase*/genetics , Iodide Peroxidase*/metabolism , Polymorphism, Genetic* , Unfolded Protein Response*, Amino Acid Substitution ; Animals ; Endoplasmic Reticulum/enzymology ; Endoplasmic Reticulum/genetics ; Golgi Apparatus/enzymology ; Golgi Apparatus/genetics ; HEK293 Cells ; Humans ; Mice ; Mice, Transgenic ; Mutation, Missense ; Thyroxine/therapeutic use ; Triiodothyronine/therapeutic use ; Iodothyronine Deiodinase Type II

المؤلفون: Kemp JP; University of Queensland Diamantina Institute, Translational Research Institute, Brisbane, Queensland, Australia.; MRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK., Morris JA; Centre for Clinical Epidemiology, Lady Davis Institute, Jewish General Hospital, McGill University, Montréal, Québec, Canada.; Department of Human Genetics, McGill University, Montréal, Québec, Canada., Medina-Gomez C; Department of Internal Medicine, Erasmus Medical Center, Rotterdam, the Netherlands.; Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands., Forgetta V; Centre for Clinical Epidemiology, Lady Davis Institute, Jewish General Hospital, McGill University, Montréal, Québec, Canada., Warrington NM; University of Queensland Diamantina Institute, Translational Research Institute, Brisbane, Queensland, Australia.; Division of Obstetrics and Gynaecology, The University of Western Australia, Perth, Western Australia, Australia., Youlten SE; Garvan Institute of Medical Research, Sydney, New South Wales, Australia.; St. Vincent's Clinical School, University of New South Wales, Sydney, New South Wales, Australia., Zheng J; MRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK., Gregson CL; Musculoskeletal Research Unit, Department of Translational Health Sciences, University of Bristol, Bristol, UK., Grundberg E; Department of Human Genetics, McGill University, Montréal, Québec, Canada., Trajanoska K; Department of Internal Medicine, Erasmus Medical Center, Rotterdam, the Netherlands.; Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands., Logan JG; Molecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London, UK., Pollard AS; Molecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London, UK., Sparkes PC; Molecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London, UK., Ghirardello EJ; Molecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London, UK., Allen R; Molecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London, UK., Leitch VD; Molecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London, UK., Butterfield NC; Molecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London, UK., Komla-Ebri D; Molecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London, UK., Adoum AT; Molecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London, UK., Curry KF; Molecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London, UK., White JK; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, UK., Kussy F; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, UK., Greenlaw KM; Centre for Clinical Epidemiology, Lady Davis Institute, Jewish General Hospital, McGill University, Montréal, Québec, Canada., Xu C; Donnelly Center for Cellular and Biomedical Research, University of Toronto, Toronto, Ontario, Canada., Harvey NC; MRC Lifecourse Epidemiology Unit, University of Southampton, Southampton, UK.; NIHR Southampton Biomedical Research Centre, University of Southampton and University Hospital Southampton NHS Foundation Trust, Southampton, UK., Cooper C; MRC Lifecourse Epidemiology Unit, University of Southampton, Southampton, UK.; NIHR Southampton Biomedical Research Centre, University of Southampton and University Hospital Southampton NHS Foundation Trust, Southampton, UK.; NIHR Oxford Biomedical Research Centre, University of Oxford, Oxford, UK., Adams DJ; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, UK., Greenwood CMT; Centre for Clinical Epidemiology, Lady Davis Institute, Jewish General Hospital, McGill University, Montréal, Québec, Canada.; Department of Human Genetics, McGill University, Montréal, Québec, Canada.; Gerald Bronfman Department of Oncology, McGill University, Montréal, Québec, Canada.; Department of Epidemiology, Biostatistics &Occupational Health, McGill University, Montréal, Québec, Canada., Maurano MT; Department of Pathology and Institute for Systems Genetics, New York University Langone Medical Center, New York, New York, USA., Kaptoge S; Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.; Strangeways Research Laboratory, Cambridge, UK., Rivadeneira F; Department of Internal Medicine, Erasmus Medical Center, Rotterdam, the Netherlands.; Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands., Tobias JH; Musculoskeletal Research Unit, Department of Translational Health Sciences, University of Bristol, Bristol, UK., Croucher PI; Garvan Institute of Medical Research, Sydney, New South Wales, Australia.; St. Vincent's Clinical School, University of New South Wales, Sydney, New South Wales, Australia.; School of Biotechnology and Biomolecular Sciences, University of New South Wales, Sydney, New South Wales, Australia., Ackert-Bicknell CL; Center for Musculoskeletal Research, Department of Orthopaedics, University of Rochester, Rochester, New York, USA., Bassett JHD; Molecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London, UK., Williams GR; Molecular Endocrinology Laboratory, Department of Medicine, Imperial College London, London, UK., Richards JB; Centre for Clinical Epidemiology, Lady Davis Institute, Jewish General Hospital, McGill University, Montréal, Québec, Canada.; Department of Human Genetics, McGill University, Montréal, Québec, Canada.; Department of Twin Research and Genetic Epidemiology, King's College London, London, UK., Evans DM; University of Queensland Diamantina Institute, Translational Research Institute, Brisbane, Queensland, Australia.; MRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK.

المصدر: Nature genetics [Nat Genet] 2017 Oct; Vol. 49 (10), pp. 1468-1475. Date of Electronic Publication: 2017 Sep 04.

نوع المنشور: Comparative Study; Journal Article

بيانات الدورية: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

مواضيع طبية MeSH: Genome-Wide Association Study* , Polymorphism, Single Nucleotide*, Bone Density/*genetics , Calcaneus/*pathology , Osteoporosis/*genetics, Animals ; Disease Models, Animal ; Female ; Femur/chemistry ; Gene Expression Profiling ; Glypicans/deficiency ; Glypicans/genetics ; Glypicans/physiology ; Growth Disorders/genetics ; Humans ; Male ; Mice ; Mice, Knockout ; Molecular Sequence Annotation ; Osteoblasts/metabolism ; Osteochondrodysplasias/congenital ; Osteochondrodysplasias/genetics ; Osteoclasts/metabolism ; Osteocytes/metabolism ; Osteoporosis/pathology ; Phenotype

SCR Disease Name: Omodysplasia type 1