Abnormal splicing of hepatocyte nuclear factor 1 alpha in maturity-onset diabetes of the young.

2.50
Hdl Handle:
http://hdl.handle.net/11287/619729
Title:
Abnormal splicing of hepatocyte nuclear factor 1 alpha in maturity-onset diabetes of the young.
Authors:
Bulman, M. P.; Harries, L. W.; Hansen, T.; Shepherd, Maggie ( 0000-0003-2660-0955 ) ; Kelly, W. F.; Hattersley, Andrew T.; Ellard, Sian ( 0000-0002-7620-5526 )
Abstract:
Mutations in the HNF-1 alpha gene result in maturity-onset diabetes of the young (MODY); an early-onset, dominantly inherited form of diabetes caused by pancreatic beta-cell dysfunction. Splice site mutations represent approximately 10% of reported HNF-1 alpha mutations. No studies to date have investigated the effect of splice site mutations on mRNA processing because the tissues with abundant HNF-1alpha expression (liver, pancreas, kidney and gut) are not easily accessible for analysis. This study aimed to define the pathogenic mechanism in three novel splice site mutations by analysing illegitimate transcripts.
Citation:
Abnormal splicing of hepatocyte nuclear factor 1 alpha in maturity-onset diabetes of the young. 2002, 45 (10):1463-7 Diabetologia
Publisher:
Springer
Journal:
Diabetologia
Issue Date:
Oct-2002
URI:
http://hdl.handle.net/11287/619729
DOI:
10.1007/s00125-002-0919-1
PubMed ID:
12378390
Additional Links:
http://link.springer.com/article/10.1007%2Fs00125-002-0919-1
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:
0012-186X
Appears in Collections:
pre-2014 RD&E publications; Diabetes/Endocrine Services; Clinical Genetics (Peninsula Genetics)

Full metadata record

DC FieldValue Language
dc.contributor.authorBulman, M. P.en
dc.contributor.authorHarries, L. W.en
dc.contributor.authorHansen, T.en
dc.contributor.authorShepherd, Maggieen
dc.contributor.authorKelly, W. F.en
dc.contributor.authorHattersley, Andrew T.en
dc.contributor.authorEllard, Sianen
dc.date.accessioned2016-09-02T11:13:45Z-
dc.date.available2016-09-02T11:13:45Z-
dc.date.issued2002-10-
dc.identifier.citationAbnormal splicing of hepatocyte nuclear factor 1 alpha in maturity-onset diabetes of the young. 2002, 45 (10):1463-7 Diabetologiaen
dc.identifier.issn0012-186X-
dc.identifier.pmid12378390-
dc.identifier.doi10.1007/s00125-002-0919-1-
dc.identifier.urihttp://hdl.handle.net/11287/619729-
dc.description.abstractMutations in the HNF-1 alpha gene result in maturity-onset diabetes of the young (MODY); an early-onset, dominantly inherited form of diabetes caused by pancreatic beta-cell dysfunction. Splice site mutations represent approximately 10% of reported HNF-1 alpha mutations. No studies to date have investigated the effect of splice site mutations on mRNA processing because the tissues with abundant HNF-1alpha expression (liver, pancreas, kidney and gut) are not easily accessible for analysis. This study aimed to define the pathogenic mechanism in three novel splice site mutations by analysing illegitimate transcripts.en
dc.language.isoenen
dc.publisherSpringeren
dc.relation.urlhttp://link.springer.com/article/10.1007%2Fs00125-002-0919-1en
dc.rightsArchived with thanks to Diabetologiaen
dc.subjectWessex Classification Subject Headings::Oncology. Pathology.::Geneticsen
dc.subjectWessex Classification Subject Headings::Endocrinology::Diabetesen
dc.titleAbnormal splicing of hepatocyte nuclear factor 1 alpha in maturity-onset diabetes of the young.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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