Journal article icon

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 ...

Expand abstract
Publication status:
Published

Actions


Access Document


Publisher copy:
10.2337/diabetes.54.9.2503

Authors


Hattersley, AT More by this author
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, Physiology Anatomy and Genetics
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

Terms of use


Metrics



If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP