Heterozygous ABCC8 mutations are a cause of MODY.

2.50
Hdl Handle:
http://hdl.handle.net/11287/619222
Title:
Heterozygous ABCC8 mutations are a cause of MODY.
Authors:
Bowman, Pamela; Flanagan, Sarah; Edghill, E. L.; Damhuis, A.; Shepherd, Maggie ( 0000-0003-2660-0955 ) ; Paisey, R.; Hattersley, Andrew T.; Ellard, Sian ( 0000-0002-7620-5526 )
Abstract:
The ABCC8 gene encodes the sulfonylurea receptor 1 (SUR1) subunit of the pancreatic beta cell ATP-sensitive potassium (K(ATP)) channel. Inactivating mutations cause congenital hyperinsulinism (CHI) and activating mutations cause transient neonatal diabetes (TNDM) or permanent neonatal diabetes (PNDM) that can usually be treated with sulfonylureas. Sulfonylurea sensitivity is also a feature of HNF1A and HNF4A MODY, but patients referred for genetic testing with clinical features of these types of diabetes do not always have mutations in the HNF1A/4A genes. Our aim was to establish whether mutations in the ABCC8 gene cause MODY that is responsive to sulfonylurea therapy.
Citation:
Heterozygous ABCC8 mutations are a cause of MODY. 2012, 55 (1):123-7 Diabetologia
Publisher:
Springer
Journal:
Diabetologia
Issue Date:
Jan-2012
URI:
http://hdl.handle.net/11287/619222
DOI:
10.1007/s00125-011-2319-x
PubMed ID:
21989597
Additional Links:
http://link.springer.com/article/10.1007%2Fs00125-011-2319-x
Note:
This article is freely available via Open Access. Click on the ‘Additional Link’ above to access the full-text from the publisher’s site.
Type:
Research Support, Non-U.S. Gov't
Language:
en
ISSN:
1432-0428
Appears in Collections:
pre-2014 RD&E publications; Diabetes/Endocrine Services; Honorary contracts publications

Full metadata record

DC FieldValue Language
dc.contributor.authorBowman, Pamelaen
dc.contributor.authorFlanagan, Sarahen
dc.contributor.authorEdghill, E. L.en
dc.contributor.authorDamhuis, A.en
dc.contributor.authorShepherd, Maggieen
dc.contributor.authorPaisey, R.en
dc.contributor.authorHattersley, Andrew T.en
dc.contributor.authorEllard, Sianen
dc.date.accessioned2016-09-01T12:58:42Z-
dc.date.available2016-09-01T12:58:42Z-
dc.date.issued2012-01-
dc.identifier.citationHeterozygous ABCC8 mutations are a cause of MODY. 2012, 55 (1):123-7 Diabetologiaen
dc.identifier.issn1432-0428-
dc.identifier.pmid21989597-
dc.identifier.doi10.1007/s00125-011-2319-x-
dc.identifier.urihttp://hdl.handle.net/11287/619222-
dc.description.abstractThe ABCC8 gene encodes the sulfonylurea receptor 1 (SUR1) subunit of the pancreatic beta cell ATP-sensitive potassium (K(ATP)) channel. Inactivating mutations cause congenital hyperinsulinism (CHI) and activating mutations cause transient neonatal diabetes (TNDM) or permanent neonatal diabetes (PNDM) that can usually be treated with sulfonylureas. Sulfonylurea sensitivity is also a feature of HNF1A and HNF4A MODY, but patients referred for genetic testing with clinical features of these types of diabetes do not always have mutations in the HNF1A/4A genes. Our aim was to establish whether mutations in the ABCC8 gene cause MODY that is responsive to sulfonylurea therapy.en
dc.language.isoenen
dc.publisherSpringeren
dc.relation.urlhttp://link.springer.com/article/10.1007%2Fs00125-011-2319-xen
dc.rightsArchived with thanks to Diabetologiaen
dc.subjectWessex Classification Subject Headings::Endocrinology::Diabetesen
dc.titleHeterozygous ABCC8 mutations are a cause of MODY.en
dc.typeResearch Support, Non-U.S. Gov'ten
dc.identifier.journalDiabetologiaen
dc.description.noteThis article is freely available via Open Access. Click on the ‘Additional Link’ above to access the full-text from the publisher’s site.en
dc.type.versionPublisheden

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