Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2013-10-06

AUTHORS

Jason Flannick, Nicola L Beer, Alexander G Bick, Vineeta Agarwala, Janne Molnes, Namrata Gupta, Noël P Burtt, Jose C Florez, James B Meigs, Herman Taylor, Valeriya Lyssenko, Henrik Irgens, Ervin Fox, Frank Burslem, Stefan Johansson, M Julia Brosnan, Jeff K Trimmer, Christopher Newton-Cheh, Tiinamaija Tuomi, Anders Molven, James G Wilson, Christopher J O'Donnell, Sekar Kathiresan, Joel N Hirschhorn, Pål R Njølstad, Tim Rolph, J G Seidman, Stacey Gabriel, David R Cox, Christine E Seidman, Leif Groop, David Altshuler

ABSTRACT

David Altshuler and colleagues sequenced seven genes for maturity-onset diabetes of the young (MODY), a dominant Mendelian disorder, in 4,003 individuals drawn from three population-based cohorts. They find ~2% of individuals unselected for phenotype carry low frequency variants in one of these MODY genes, predicted as likely to be pathogenic; however most of these individuals remain asymptomatic through middle age. More... »

PAGES

1380-1385

References to SciGraph publications

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  • Journal

    TITLE

    Nature Genetics

    ISSUE

    11

    VOLUME

    45

    Author Affiliations

  • Diabetes Unit, Massachusetts General Hospital, Boston, Massachusetts, USA
  • Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology (MIT), Cambridge, Massachusetts, USA
  • Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA
  • Program in Biophysics, Graduate School of Arts and Sciences, Harvard University, Cambridge, Massachusetts, USA
  • Department of Clinical Science, KG Jebsen Center for Diabetes Research, University of Bergen, Bergen, Norway
  • Department of Medicine, Harvard Medical School, Boston, Massachusetts, USA
  • General Medicine Division, Massachusetts General Hospital, Boston, Massachusetts, USA
  • Division of Natural Sciences, Tougaloo College, Tougaloo, Mississippi, USA
  • Department of Clinical Sciences, Diabetes and Endocrinology, Clinical Research Centre, Lund University, Malmö, Sweden
  • Department of Pediatrics, Haukeland University Hospital, Bergen, Norway
  • Department of Medicine, University of Mississippi Medical Center, Jackson, Mississippi, USA
  • Cardiovascular and Metabolic Diseases Practice, Prescient Life Sciences, London, UK
  • Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway
  • Cardiovascular and Metabolic Diseases Research Unit, Pfizer Inc., Cambridge, Massachusetts, USA
  • Cardiology Division, Massachusetts General Hospital, Boston, Massachusetts, USA
  • Department of Medicine, Helsinki University Central Hospital and Research Program for Molecular Medicine, Helsinki, Finland
  • Department of Pathology, Haukeland University Hospital, Bergen, Norway
  • Department of Physiology and Biophysics, University of Mississippi Medical Center, Jackson, Mississippi, USA
  • Division of Intramural Research, National Heart, Lung, and Blood Institute, Bethesda, Maryland, USA
  • Divisions of Genetics and Endocrinology and Program in Genomics, Children's Hospital, Boston, Massachusetts, USA
  • Applied Quantitative Genotherapeutics, Pfizer Inc., South San Francisco, California, USA
  • Howard Hughes Medical Institute, Chevy Chase, Maryland, USA
  • Finnish Institute for Molecular Medicine (FIMM), Helsinki University, Helsinki, Finland
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/ng.2794

    DOI

    http://dx.doi.org/10.1038/ng.2794

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1038553163

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/24097065


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