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An ABCC8 nonsense mutation causing neonatal diabetes through altered transcript expression

Abstract:

The pancreatic ATP-sensitive K+ (K-ATP) channel is a key regulator of insulin secretion. Gain-of-function mutations in the genes encoding the Kir6.2 (KCNJ11) and SUR1 (ABCC8) subunits of the channel cause neonatal diabetes, whilst loss-of-function mutations in these genes result in congenital hyperinsulinism. We report two patients with neonatal diabetes in whom we unexpectedly identified recessively inherited loss-of-function mutations. The aim of this study was to investigate how a homozygo...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's version

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Publisher copy:
10.4274/jcrpe.4624

Authors


Flanagan, SE More by this author
Houghton, JAL More by this author
De Franco, E More by this author
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Grant:
Royal Society/Wolfson Merit Award
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Grant:
Royal Society/Wolfon Merit Award
Publisher:
Galenos Publishing House Publisher's website
Journal:
Journal of Clinical Research in Pediatric Endocrinology Journal website
Volume:
9
Issue:
3
Pages:
260-264
Publication date:
2017-09-05
Acceptance date:
2017-06-24
DOI:
EISSN:
1308-5735
ISSN:
1308-5727
Pubs id:
pubs:730879
URN:
uri:b85e86af-3083-4f1e-a5a7-c4279a3ae4c3
UUID:
uuid:b85e86af-3083-4f1e-a5a7-c4279a3ae4c3
Local pid:
pubs:730879
Language:
English
Keywords:

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