Severe congenital hyperinsulinism caused by a mutation in the Kir6.2 subunit of the adenosine triphosphate-sensitive potassium channel impairing trafficking and function

Journal of Clinical Endocrinology and Metabolism

Volumn 90, Issue 9, 2005, Pages 5401-5406

  Marthinet, Eric ^a   Bloc, Alain ^b,c   Oka, Yoshimoto ^d   Tanizawa, Yukio ^e   Wehrle Haller, Bernhard ^b   Bancila, Victor ^b   Dubuis, Jean Michel ^a   Philippe, Jacques ^a   Schwitzgebel, Valerie M ^a,f  

^a GENEVA UNIVERSITY HOSPITALS   (Switzerland)

^b UNIVERSITY OF GENEVA   (Switzerland)

^c UNIVERSITY OF LAUSANNE   (Switzerland)

^d TOHOKU UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^e YAMAGUCHI UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^f Children s University Hospital   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR6.2; MEMBRANE PROTEIN; MUTANT PROTEIN; PROTEIN KIR6.2 SUBUNIT; SULFONYLUREA RECEPTOR; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CELL MEMBRANE; CELL STRAIN HEK293; CONFOCAL MICROSCOPY; DISEASE SEVERITY; ELECTROPHYSIOLOGY; EMBRYO; ENDOPLASMIC RETICULUM; FLUORESCENCE ANALYSIS; GENE MUTATION; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; HYPERINSULINEMIA; HYPOGLYCEMIA; IMMUNOFLUORESCENCE TEST; IMMUNOHISTOCHEMISTRY; MACROSOMIA; MOLECULAR BIOLOGY; NEWBORN; NUCLEOTIDE SEQUENCE; PANCREAS RESECTION; PATCH CLAMP; PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY; POTASSIUM CURRENT; PRIORITY JOURNAL; PROTEIN EXPRESSION; SIGNAL TRANSDUCTION; WHOLE CELL;

ADENOSINE TRIPHOSPHATE; AMINO ACID SEQUENCE; ATP-BINDING CASSETTE TRANSPORTERS; CELL LINE; FLUORESCENT ANTIBODY TECHNIQUE; HOMOZYGOTE; HUMANS; HYPERINSULINISM; IMMUNOHISTOCHEMISTRY; INFANT, NEWBORN; MICROSCOPY, CONFOCAL; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PATCH-CLAMP TECHNIQUES; POTASSIUM CHANNELS; POTASSIUM CHANNELS, INWARDLY RECTIFYING; PROTEIN TRANSPORT; RECEPTORS, DRUG; STAINING AND LABELING; TRANSFECTION;

EID: 24344463035     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2005-0202     Document Type: Article

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