Insulin gene mutations as a cause of permanent neonatal diabetes

Proceedings of the National Academy of Sciences of the United States of America

Volumn 104, Issue 38, 2007, Pages 15040-15044

  Støy, Julie ^a   Edghill, Emma L ^b   Flanagan, Sarah E ^b   Ye, Honggang ^a   Paz, Veronica P ^a   Pluzhnikov, Anna ^a   Below, Jennifer E ^a   Hayes, M Geoffrey ^a   Cox, Nancy J ^a   Lipkind, Gregory M ^a   Lipton, Rebecca B ^a   Greeley, Siri Atma W ^a   Patch, Ann Marie ^a   Ellard, Sian ^a   Steiner, Donald F ^a   Hattersley, Andrew T ^b   Philipson, Louis H ^a   Bell, Graeme I ^a  

^a UNIVERSITY OF CHICAGO   (United States)

^b PENINSULA MEDICAL SCHOOL   (United Kingdom)

Author keywords

Disulfide bonds; Endoplasmic reticulum stress; Insulin biosynthesis; Unfolded protein response

Indexed keywords

AUTOANTIBODY; GLUCOSE; INSULIN; PREPROINSULIN;

ABCC8 GENE; APOPTOSIS; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CELL DEATH; CELL STRESS; CLINICAL ARTICLE; CONTROLLED STUDY; DIABETES MELLITUS; DIABETIC KETOACIDOSIS; DISEASE MODEL; ENDOPLASMIC RETICULUM; FAMILIAL DISEASE; FEMALE; GENE; GENE AMPLIFICATION; GENE MUTATION; GENETIC LINKAGE; HETEROZYGOSITY; HUMAN; HYPERGLYCEMIA; INS GENE; KCNJ11 GENE; MALE; MISSENSE MUTATION; NEWBORN; NEWBORN DISEASE; PANCREAS ISLET BETA CELL; PRIORITY JOURNAL; PROTEIN FOLDING;

AMINO ACID SEQUENCE; ATP-BINDING CASSETTE TRANSPORTERS; DIABETES MELLITUS; FEMALE; HETEROZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; INSULIN; LINKAGE (GENETICS); MALE; MODELS, BIOLOGICAL; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; POTASSIUM CHANNELS; POTASSIUM CHANNELS, INWARDLY RECTIFYING; PROINSULIN; PROTEIN FOLDING; PROTEIN PRECURSORS; RECEPTORS, DRUG;

EID: 35448994352     PISSN: 00278424     EISSN: None     Source Type: Journal    
DOI: 10.1073/pnas.0707291104     Document Type: Article

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