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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
18
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pubmed:dateCreated |
2004-4-29
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pubmed:abstractText |
Patients with permanent neonatal diabetes usually present within the first three months of life and require insulin treatment. In most, the cause is unknown. Because ATP-sensitive potassium (K(ATP)) channels mediate glucose-stimulated insulin secretion from the pancreatic beta cells, we hypothesized that activating mutations in the gene encoding the Kir6.2 subunit of this channel (KCNJ11) cause neonatal diabetes.
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pubmed:commentsCorrections |
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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 |
Apr
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pubmed:issn |
1533-4406
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pubmed:author |
pubmed-author:AisenbergJavierJ,
pubmed-author:AntcliffJennifer FJF,
pubmed-author:AshcroftFrances MFM,
pubmed-author:BruiningG JanGJ,
pubmed-author:ClarkPenelopeP,
pubmed-author:EdghillEmma LEL,
pubmed-author:EllardSianS,
pubmed-author:FraylingTimothy MTM,
pubmed-author:GloynAnna LAL,
pubmed-author:GormanShaunS,
pubmed-author:HattersleyAndrew TAT,
pubmed-author:HowardNevilleN,
pubmed-author:MackayDeborahD,
pubmed-author:MolnesJanneJ,
pubmed-author:NjølstadPål RPR,
pubmed-author:PearsonEwan RER,
pubmed-author:ProksPeterP,
pubmed-author:ShieldJulian P HJP,
pubmed-author:SilvaJosé M C LJM,
pubmed-author:SlingerlandAnnabelle SAS,
pubmed-author:SrinivasanShubhaS,
pubmed-author:SumnikZdenekZ,
pubmed-author:TempleI KarenIK,
pubmed-author:WalesJerry K HJK,
pubmed-author:van RhijnAdrianA
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pubmed:copyrightInfo |
Copyright 2004 Massachusetts Medical Society
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pubmed:issnType |
Electronic
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pubmed:day |
29
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pubmed:volume |
350
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1838-49
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:15115830-DNA Mutational Analysis,
pubmed-meshheading:15115830-Developmental Disabilities,
pubmed-meshheading:15115830-Diabetes Mellitus,
pubmed-meshheading:15115830-Epilepsy,
pubmed-meshheading:15115830-Face,
pubmed-meshheading:15115830-Female,
pubmed-meshheading:15115830-Heterozygote,
pubmed-meshheading:15115830-Humans,
pubmed-meshheading:15115830-Infant, Newborn,
pubmed-meshheading:15115830-Islets of Langerhans,
pubmed-meshheading:15115830-Male,
pubmed-meshheading:15115830-Mutation,
pubmed-meshheading:15115830-Pedigree,
pubmed-meshheading:15115830-Potassium Channels, Inwardly Rectifying,
pubmed-meshheading:15115830-Sequence Analysis, DNA
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pubmed:year |
2004
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pubmed:articleTitle |
Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.
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pubmed:affiliation |
Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, United Kingdom.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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