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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
11
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pubmed:dateCreated |
2010-9-29
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pubmed:abstractText |
We identified a mouse with a point mutation (Y12STOP) in the Kcnj11 subunit of the K(ATP) channel. This point mutation is identical to that found in a patient with congenital hyperinsulinism of infancy (HI). We aimed to characterise the phenotype arising from this loss-of-function mutation and to compare it with that of other mouse models and patients with HI.
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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 |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Nov
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pubmed:issn |
1432-0428
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
53
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
2352-6
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pubmed:meshHeading |
pubmed-meshheading:20694718-Animals,
pubmed-meshheading:20694718-Female,
pubmed-meshheading:20694718-Genotype,
pubmed-meshheading:20694718-Glucose Intolerance,
pubmed-meshheading:20694718-Glucose Tolerance Test,
pubmed-meshheading:20694718-Humans,
pubmed-meshheading:20694718-Hyperinsulinism,
pubmed-meshheading:20694718-Male,
pubmed-meshheading:20694718-Mice,
pubmed-meshheading:20694718-Mice, Mutant Strains,
pubmed-meshheading:20694718-Mutation,
pubmed-meshheading:20694718-Phenotype,
pubmed-meshheading:20694718-Potassium Channels, Inwardly Rectifying,
pubmed-meshheading:20694718-Reverse Transcriptase Polymerase Chain Reaction
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pubmed:year |
2010
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pubmed:articleTitle |
A mutation in KCNJ11 causing human hyperinsulinism (Y12X) results in a glucose-intolerant phenotype in the mouse.
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pubmed:affiliation |
Metabolism and Inflammation, MRC Harwell Mammalian Genetics Unit, Harwell Science and Innovation Campus, Harwell, OX11 0RD, UK.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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