A missense mutation in PPP1R15B causes a syndrome including diabetes, short stature, and microcephaly

Diabetes

Volumn 64, Issue 11, 2015, Pages 3951-3962

  Abdulkarim, Baroj ^a   Nicolino, Marc ^b,c   Igoillo Esteve, Mariana ^a   Daures, Mathilde ^c,d   Romero, Sophie ^c,d   Philippi, Anne ^c,d   Senée, Valérie ^c,d   Lopes, Miguel ^a   Cunha, Daniel A ^a   Harding, Heather P ^e   Derbois, Céline ^f   Bendelac, Nathalie ^b   Hattersley, Andrew T ^g   Eizirik, Décio L ^a   Ron, David ^e   Cnop, Miriam ^a,h   Julier, Cécile ^c,d  

^a UNIVERSITÉ LIBRE DE BRUXELLES   (Belgium)

^b UNIVERSITÉ LYON 1   (France)

^c INSERM   (France)

^d UNIVERSITÉ PARIS DESCARTES   (France)

^e UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^f CENTRE NATIONAL DE GÉNOTYPAGE   (France)

^g UNIVERSITY OF EXETER MEDICAL SCHOOL   (United Kingdom)

^h ERASME HOSPITAL   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; BH3 PROTEIN; BIM PROTEIN; DP5 PROTEIN; INITIATION FACTOR 2ALPHA; INSULIN; PEPTIDES AND PROTEINS; PHOSPHOPROTEIN PHOSPHATASE 1; PROTEIN KINASE R; PUMA PROTEIN; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SEQUENCE; ANIMAL CELL; APOPTOSIS; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CLINICAL FEATURE; CONSTITUTIVE REPRESSOR OF EUKARYOTIC TRANSLATION INITIATION FACTOR 2ALPHA PHOSPHORYLATION GENE; CONTROLLED STUDY; DIABETES MELLITUS; DIABETIC KETOACIDOSIS; FEMALE; GENE DELETION; GENETIC ASSOCIATION; HOMOZYGOTE; HUMAN; HUMAN CELL; HYPERGLYCEMIA; INSULIN RELEASE; INSULIN TREATMENT; INTELLECTUAL IMPAIRMENT; LOW DRUG DOSE; MALE; MICROCEPHALY; MISSENSE MUTATION; MUTATOR GENE; NEWBORN DIABETES MELLITUS; NONHUMAN; PANCREAS ISLET BETA CELL; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN DEPHOSPHORYLATION; PROTEIN DOMAIN; PROTEIN PROTEIN INTERACTION; RAT; SHORT STATURE; SIBLING; WOLCOTT RALLISON SYNDROME; ADOLESCENT; GENETICS; GROWTH DISORDER; SYNDROME;

ADOLESCENT; ADULT; DIABETES MELLITUS; FEMALE; GROWTH DISORDERS; HUMANS; MALE; MICROCEPHALY; MUTATION, MISSENSE; PROTEIN PHOSPHATASE 1; SYNDROME;

EID: 84954535655     PISSN: 00121797     EISSN: 1939327X     Source Type: Journal    
DOI: 10.2337/db15-0477     Document Type: Article

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