Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance

Journal of Clinical Investigation

Volumn 124, Issue 9, 2014, Pages 4028-4038

  Payne, Felicity ^a   Colnaghi, Rita ^b   Rocha, Nuno ^c,d   Seth, Asha ^a   Harris, Julie ^c,d   Carpenter, Gillian ^b   Bottomley, William E ^a   Wheeler, Eleanor ^a   Wong, Stephen ^e   Saudek, Vladimir ^c,d   Savage, David ^c,d   O'Rahilly, Stephen ^c,d   Carel, Jean Claude ^f,g,h   Barroso, Inês ^a,c,d   O'Driscoll, Mark ^b,j   Semple, Robert ^c,d,i  

^a WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^b UNIVERSITY OF SUSSEX   (United Kingdom)

^c MEDICAL RESEARCH COUNCIL   (United Kingdom)

^d Queen Mary University of London and Barts NIHR BRC NHS Trust National Institute for Health and Care Research   (United Kingdom)

^e GLAN CLWYD HOSPITAL   (United Kingdom)

^f UNIVERSITÉ PARIS DESCARTES   (France)

^g HÔPITAL ROBERT DEBRÉ   (France)

^h INSERM   (France)

ⁱ UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^j WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

BLOOM SYNDROME HELICASE; COHESIN; CONDENSIN; HYDROXYUREA; INSULIN; SUMO PROTEIN; CELL CYCLE PROTEIN; CYTOCHALASIN B; LIGASE; NSMCE2 PROTEIN, HUMAN; RECQ HELICASE; SMC5 PROTEIN, HUMAN; SMC6 PROTEIN, HUMAN;

ANIMAL CELL; ARTICLE; CHROMATIN STRUCTURE; CONTROLLED STUDY; DNA DAMAGE; DNA SYNTHESIS; DWARFISM; FEMALE; FIBROBLAST; FRAMESHIFT MUTATION; GENE EXPRESSION; HUMAN; HYPOGONADISM; INSULIN RESISTANCE; MICRONUCLEUS; NONHUMAN; PRIMARY CELL; PRIMORDIAL DWARFISM; SISTER CHROMATID; ZEBRA FISH; ANIMAL; GENETICS; HAPLOTYPE; MUTATION; PHYSIOLOGY;

ANIMALS; CELL CYCLE PROTEINS; CYTOCHALASIN B; DWARFISM; FEMALE; HAPLOTYPES; HUMANS; INSULIN RESISTANCE; LIGASES; MUTATION; RECQ HELICASES; ZEBRAFISH;

EID: 84907008348     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI73264     Document Type: Article

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