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Journal article

Adjacent mutations in the gating loop of Kir6.2 produce neonatal diabetes and hyperinsulinism.

Abstract:

K(ATP) channels regulate insulin secretion from pancreatic beta-cells. Loss- and gain-of-function mutations in the genes encoding the Kir6.2 and SUR1 subunits of this channel cause hyperinsulinism of infancy and neonatal diabetes, respectively. We report two novel mutations in the gating loop of Kir6.2 which cause neonatal diabetes with developmental delay (T293N) and hyperinsulinism (T294M). These mutations increase (T293N) or decrease (T294M) whole-cell K(ATP) currents, accounting for the d...

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Publication status:
Published

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Publisher copy:
10.1002/emmm.200900018

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Journal:
EMBO molecular medicine
Volume:
1
Issue:
3
Pages:
166-177
Publication date:
2009-06-05
DOI:
EISSN:
1757-4684
ISSN:
1757-4676
URN:
uuid:8f6f6cc9-0500-4e74-8bd9-1287e8f713ec
Source identifiers:
113683
Local pid:
pubs:113683

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