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rdf:type |
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lifeskim:mentions |
umls-concept:C0001480,
umls-concept:C0017725,
umls-concept:C0019425,
umls-concept:C0019904,
umls-concept:C0020517,
umls-concept:C0026882,
umls-concept:C0439799,
umls-concept:C0441712,
umls-concept:C1257959,
umls-concept:C1416578,
umls-concept:C1516615,
umls-concept:C1742737
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pubmed:issue |
1
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pubmed:dateCreated |
2011-1-3
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pubmed:abstractText |
The ATP-sensitive K(+) channel (K(ATP)) controls insulin secretion from the islet. Gain- or loss-of-function mutations in channel subunits underlie human neonatal diabetes and congenital hyperinsulinism (HI), respectively. In this study, we sought to identify the mechanistic basis of K(ATP)-induced HI in two probands and to characterize the clinical course.
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jan
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pubmed:issn |
1939-327X
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pubmed:author |
pubmed-author:AkrouhAlejandroA,
pubmed-author:BarbettiFabrizioF,
pubmed-author:ColomboCarloC,
pubmed-author:Dionisi-ViciCarloC,
pubmed-author:KosterJoseph CJC,
pubmed-author:KurataHarley THT,
pubmed-author:LoechnerKaren JKJ,
pubmed-author:MaioranaAriannaA,
pubmed-author:NicholsColin GCG,
pubmed-author:PizzoferroMilenaM,
pubmed-author:RufiniVittoriaV,
pubmed-author:de Ville de GoyetJeanJ
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pubmed:issnType |
Electronic
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pubmed:volume |
60
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
209-17
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pubmed:dateRevised |
2011-11-17
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pubmed:meshHeading |
pubmed-meshheading:20980454-Adenosine Triphosphate,
pubmed-meshheading:20980454-Carrier State,
pubmed-meshheading:20980454-Child,
pubmed-meshheading:20980454-DNA,
pubmed-meshheading:20980454-Gas Chromatography-Mass Spectrometry,
pubmed-meshheading:20980454-Gene Amplification,
pubmed-meshheading:20980454-Gene Silencing,
pubmed-meshheading:20980454-Glucose Tolerance Test,
pubmed-meshheading:20980454-Heterozygote,
pubmed-meshheading:20980454-Homozygote,
pubmed-meshheading:20980454-Humans,
pubmed-meshheading:20980454-Hyperinsulinism,
pubmed-meshheading:20980454-Immunoblotting,
pubmed-meshheading:20980454-Insulin,
pubmed-meshheading:20980454-Ion Channel Gating,
pubmed-meshheading:20980454-Islets of Langerhans,
pubmed-meshheading:20980454-Male,
pubmed-meshheading:20980454-Mutation,
pubmed-meshheading:20980454-Phenotype,
pubmed-meshheading:20980454-Polymerase Chain Reaction,
pubmed-meshheading:20980454-Polymorphism, Single Nucleotide,
pubmed-meshheading:20980454-Potassium Channels,
pubmed-meshheading:20980454-Potassium Channels, Inwardly Rectifying,
pubmed-meshheading:20980454-Rubidium
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pubmed:year |
2011
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pubmed:articleTitle |
Congenital hyperinsulinism and glucose hypersensitivity in homozygous and heterozygous carriers of Kir6.2 (KCNJ11) mutation V290M mutation: K(ATP) channel inactivation mechanism and clinical management.
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pubmed:affiliation |
Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, USA.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, N.I.H., Extramural
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