Journal article
Activating mutations in Kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights, and new therapy.
- Abstract:
-
Closure of ATP-sensitive K(+) channels (K(ATP) channels) in response to metabolically generated ATP or binding of sulfonylurea drugs stimulates insulin release from pancreatic beta-cells. Heterozygous gain-of-function mutations in the KCJN11 gene encoding the Kir6.2 subunit of this channel are found in approximately 47% of patients diagnosed with permanent diabetes at <6 months of age. There is a striking genotype-phenotype relationship with specific Kir6.2 mutations being associated with ...
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- Publication status:
- Published
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- Publisher copy:
- 10.2337/diabetes.54.9.2503
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Authors
Bibliographic Details
- Journal:
- Diabetes
- Volume:
- 54
- Issue:
- 9
- Pages:
- 2503-2513
- Publication date:
- 2005-09-05
- DOI:
- EISSN:
-
1939-327X
- ISSN:
-
0012-1797
- URN:
-
uuid:c5c32e37-73b7-44e4-a3b2-b5084decb0cb
- Source identifiers:
-
114116
- Local pid:
- pubs:114116
Item Description
- Language:
- English
- Keywords:
Terms of use
- Copyright date:
- 2005
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