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Identification of a novel beta-cell glucokinase (GCK) promoter mutation (-71G>C) that modulates GCK gene expression through loss of allele-specific Sp1 binding causing mild fasting hyperglycemia in humans.

Abstract:

OBJECTIVE: Inactivating mutations in glucokinase (GCK) cause mild fasting hyperglycemia. Identification of a GCK mutation has implications for treatment and prognosis; therefore, it is important to identify these individuals. A significant number of patients have a phenotype suggesting a defect in glucokinase but no abnormality of GCK. We hypothesized that the GCK beta-cell promoter region, which currently is not routinely screened, could contain pathogenic mutations; therefore, we sequenced...

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Publisher copy:
10.2337/db09-0070

Authors


Journal:
Diabetes More from this journal
Volume:
58
Issue:
8
Pages:
1929-1935
Publication date:
2009-08-01
DOI:
EISSN:
1939-327X
ISSN:
0012-1797
Language:
English
Keywords:
Pubs id:
pubs:14815
UUID:
uuid:8a8bc1e4-ebcb-4155-8055-28bdb93e9815
Local pid:
pubs:14815
Source identifiers:
14815
Deposit date:
2012-12-19

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