Neonatal diabetes caused by a homozygous KCNJ11 mutation demonstrates that tiny changes in ATP sensitivity markedly affect diabetes risk.

2.50
Hdl Handle:
http://hdl.handle.net/11287/620288
Title:
Neonatal diabetes caused by a homozygous KCNJ11 mutation demonstrates that tiny changes in ATP sensitivity markedly affect diabetes risk.
Authors:
Vedovato, N.; Cliff, E.; Proks, P.; Poovazhagi, V.; Flanagan, S. E.; Ellard, Sian ( 0000-0002-7620-5526 ) ; Hattersley, Andrew T.; Ashcroft, F. M.
Abstract:
The pancreatic ATP-sensitive potassium (KATP) channel plays a pivotal role in linking beta cell metabolism to insulin secretion. Mutations in KATP channel genes can result in hypo- or hypersecretion of insulin, as in neonatal diabetes mellitus and congenital hyperinsulinism, respectively. To date, all patients affected by neonatal diabetes due to a mutation in the pore-forming subunit of the channel (Kir6.2, KCNJ11) are heterozygous for the mutation. Here, we report the first clinical case of neonatal diabetes caused by a homozygous KCNJ11 mutation.
Citation:
Neonatal diabetes caused by a homozygous KCNJ11 mutation demonstrates that tiny changes in ATP sensitivity markedly affect diabetes risk. 2016, 59 (7):1430-6 Diabetologia
Publisher:
Springer
Journal:
Diabetologia
Issue Date:
Jul-2016
URI:
http://hdl.handle.net/11287/620288
DOI:
10.1007/s00125-016-3964-x
PubMed ID:
27118464
Additional Links:
https://dx.doi.org/10.1007/s00125-016-3964-x
Note:
This article is freely available via Open Access. Click on the Additional Link above to access the full-text via the publisher's site.
Type:
Journal Article
Language:
en
ISSN:
1432-0428
Appears in Collections:
Diabetes/Endocrine Services; Molecular Genetics; 2016 RD&E publications

Full metadata record

DC FieldValue Language
dc.contributor.authorVedovato, N.en
dc.contributor.authorCliff, E.en
dc.contributor.authorProks, P.en
dc.contributor.authorPoovazhagi, V.en
dc.contributor.authorFlanagan, S. E.en
dc.contributor.authorEllard, Sianen
dc.contributor.authorHattersley, Andrew T.en
dc.contributor.authorAshcroft, F. M.en
dc.date.accessioned2017-03-14T15:41:30Z-
dc.date.available2017-03-14T15:41:30Z-
dc.date.issued2016-07-
dc.identifier.citationNeonatal diabetes caused by a homozygous KCNJ11 mutation demonstrates that tiny changes in ATP sensitivity markedly affect diabetes risk. 2016, 59 (7):1430-6 Diabetologiaen
dc.identifier.issn1432-0428-
dc.identifier.pmid27118464-
dc.identifier.doi10.1007/s00125-016-3964-x-
dc.identifier.urihttp://hdl.handle.net/11287/620288-
dc.description.abstractThe pancreatic ATP-sensitive potassium (KATP) channel plays a pivotal role in linking beta cell metabolism to insulin secretion. Mutations in KATP channel genes can result in hypo- or hypersecretion of insulin, as in neonatal diabetes mellitus and congenital hyperinsulinism, respectively. To date, all patients affected by neonatal diabetes due to a mutation in the pore-forming subunit of the channel (Kir6.2, KCNJ11) are heterozygous for the mutation. Here, we report the first clinical case of neonatal diabetes caused by a homozygous KCNJ11 mutation.en
dc.language.isoenen
dc.publisherSpringeren
dc.relation.urlhttps://dx.doi.org/10.1007/s00125-016-3964-xen
dc.rightsArchived with thanks to Diabetologiaen
dc.subjectWessex Classification Subject Headings::Endocrinology::Diabetesen
dc.titleNeonatal diabetes caused by a homozygous KCNJ11 mutation demonstrates that tiny changes in ATP sensitivity markedly affect diabetes risk.en
dc.typeJournal Articleen
dc.identifier.journalDiabetologiaen
dc.description.noteThis article is freely available via Open Access. Click on the Additional Link above to access the full-text via the publisher's site.en
dc.type.versionPublisheden

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