PLIN1 haploinsufficiency is not associated with lipodystrophy.

2.50
Hdl Handle:
http://hdl.handle.net/11287/620802
Title:
PLIN1 haploinsufficiency is not associated with lipodystrophy.
Authors:
Laver, T. W.; Patel, K.A.; Colclough, Kevin; Curran, J.; Dale, J.; Davis, N.; Savage, D. B.; Flanagan, S.E.; Ellard, Sian ( 0000-0002-7620-5526 ) ; Hattersley, Andrew T.; Weedon, M.N.
Abstract:
Monogenic partial lipodystrophy is a genetically heterogenous disease where only variants with specific genetic mechanisms are causative. Three heterozygous protein extending frameshift variants in PLIN1 have been reported to cause a phenotype of partial lipodystrophy and insulin resistance.
Citation:
PLIN1 haploinsufficiency is not associated with lipodystrophy. 2018 J. Clin. Endocrinol. Metab.
Publisher:
Endocrine Society
Journal:
The Journal of clinical endocrinology and metabolism
Issue Date:
17-Jul-2018
URI:
http://hdl.handle.net/11287/620802
DOI:
10.1210/jc.2017-02662
PubMed ID:
30020498
Additional Links:
https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.2017-02662
Type:
Journal Article
Language:
en
ISSN:
1945-7197
Appears in Collections:
Diabetes/Endocrine Services; Molecular Genetics; 2018 RD&E publications

Full metadata record

DC FieldValue Language
dc.contributor.authorLaver, T. W.en
dc.contributor.authorPatel, K.A.en
dc.contributor.authorColclough, Kevinen
dc.contributor.authorCurran, J.en
dc.contributor.authorDale, J.en
dc.contributor.authorDavis, N.en
dc.contributor.authorSavage, D. B.en
dc.contributor.authorFlanagan, S.E.en
dc.contributor.authorEllard, Sianen
dc.contributor.authorHattersley, Andrew T.en
dc.contributor.authorWeedon, M.N.en
dc.date.accessioned2018-07-30T10:55:08Z-
dc.date.available2018-07-30T10:55:08Z-
dc.date.issued2018-07-17-
dc.identifier.citationPLIN1 haploinsufficiency is not associated with lipodystrophy. 2018 J. Clin. Endocrinol. Metab.en
dc.identifier.issn1945-7197-
dc.identifier.pmid30020498-
dc.identifier.doi10.1210/jc.2017-02662-
dc.identifier.urihttp://hdl.handle.net/11287/620802-
dc.description.abstractMonogenic partial lipodystrophy is a genetically heterogenous disease where only variants with specific genetic mechanisms are causative. Three heterozygous protein extending frameshift variants in PLIN1 have been reported to cause a phenotype of partial lipodystrophy and insulin resistance.en
dc.language.isoenen
dc.publisherEndocrine Societyen
dc.relation.urlhttps://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.2017-02662en
dc.rightsArchived with thanks to The Journal of clinical endocrinology and metabolismen
dc.subjectWessex Classification Subject Headings::Oncology. Pathology.::Geneticsen
dc.subjectWessex Classification Subject Headings::Endocrinology::Diabetesen
dc.titlePLIN1 haploinsufficiency is not associated with lipodystrophy.en
dc.typeJournal Articleen
dc.identifier.journalThe Journal of clinical endocrinology and metabolismen
dc.type.versionIn press (epub ahead of print)en

Related articles on PubMed

All Items in RD&E Research Repository are protected by copyright, with all rights reserved, unless otherwise indicated.