Linked Life Data

1360036

Source:http://linkedlifedata.com/resource/pubmed/id/1360036

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
8831
pubmed:dateCreated
1992-12-24
pubmed:abstractText
A nonsense mutation at codon 186 in exon 5 of the gene for glucokinase, an enzyme important for glucose-induced insulin secretion, was identified in a Japanese patient with late-onset non-insulin-dependent diabetes mellitus (NIDDM). All affected members of her family were heterozygous for the mutation and had late-onset NIDDM or impaired glucose tolerance, whereas unaffected members showed normal glucose tolerance. The early insulin response to oral glucose was impaired in affected relatives, but was normal in those unaffected. These findings suggest that the glucokinase mutation raises the set-point of pancreatic beta cells for glucose-induced insulin secretion, leading to abnormal glucose tolerance in some patients with late-onset NIDDM.
pubmed:commentsCorrections
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
0140-6736
pubmed:author
pubmed:issnType
Print
pubmed:day
28
pubmed:volume
340
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1316-7
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed:year
1992
pubmed:articleTitle
Nonsense mutation of glucokinase gene in late-onset non-insulin-dependent diabetes mellitus.
pubmed:affiliation
Third Department of Internal Medicine, University of Tokyo, Japan.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't