A Kir6.2 mutation causing severe functional effects in vitro produces neonatal diabetes without the expected neurological complications

Diabetologia

Volumn 51, Issue 5, 2008, Pages 802-810

  Tammaro, P ^a   Flanagan, S E ^b   Zadek, B ^a   Srinivasan, S ^c   Woodhead, H ^d   Hameed, S ^d   Klimes, I ^e   Hattersley, A T ^b   Ellard, S ^b   Ashcroft, F M ^a  

^a Department of Physiology Anatomy and Genetics ^*  (United Kingdom)

^b PENINSULA MEDICAL SCHOOL   (United Kingdom)

^c CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^d SYDNEY CHILDREN'S HOSPITAL   (Australia)

^e INSTITUTE OF EXPERIMENTAL ENDOCRINOLOGY   (Slovakia)

Author keywords

KATP channel; KCNJ11; Kir6.2; Neonatal diabetes; Type 2 diabetes

Indexed keywords

ADENOSINE TRIPHOSPHATE; GLIBENCLAMIDE; INSULIN; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR6.2; SULFONYLUREA DERIVATIVE; TOLBUTAMIDE;

ADULT; ANIMAL CELL; ANIMAL EXPERIMENT; ARTICLE; CASE REPORT; CHILD; CONTROLLED STUDY; DIABETES MELLITUS; DIABETIC NEPHROPATHY; DIABETIC NEUROPATHY; DIABETIC RETINOPATHY; FEMALE; GENE MUTATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; IN VITRO STUDY; NEWBORN DISEASE; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; XENOPUS;

ADENOSINE TRIPHOSPHATE; ADULT; AMINO ACID SUBSTITUTION; ANIMALS; CHILD; CHILD, PRESCHOOL; DIABETES MELLITUS; DNA; FEMALE; HEMOGLOBIN A, GLYCOSYLATED; HUMANS; HYPOGLYCEMIC AGENTS; INFANT, NEWBORN; INFANT, NEWBORN, DISEASES; MODELS, MOLECULAR; MUTATION; OOCYTES; POTASSIUM CHANNELS, INWARDLY RECTIFYING; PROTEIN CONFORMATION; SULFONYLUREA COMPOUNDS; XENOPUS LAEVIS;

EID: 41849115186     PISSN: 0012186X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00125-008-0923-1     Document Type: Article

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