Expanding the Clinical Spectrum Associated With GLIS3 Mutations.

2.50
Hdl Handle:
http://hdl.handle.net/11287/618134
Title:
Expanding the Clinical Spectrum Associated With GLIS3 Mutations.
Authors:
Dimitri, P.; Habeb, A. M.; Gurbuz, F.; Millward, A.; Wallis, S.; Moussa, K.; Akcay, T.; Taha, D.; Hogue, J.; Slavotinek, A.; Wales, J. K. H.; Shetty, A.; Hawkes, D.; Hattersley, Andrew T.; Ellard, Sian ( 0000-0002-7620-5526 ) ; De Franco, Elisa
Abstract:
GLIS3 (GLI-similar 3) is a member of the GLI-similar zinc finger protein family encoding for a nuclear protein with 5 C2H2-type zinc finger domains. The protein is expressed early in embryogenesis and plays a critical role as both a repressor and activator of transcription. Human GLIS3 mutations are extremely rare.
Citation:
Expanding the Clinical Spectrum Associated With GLIS3 Mutations. 2015, 100 (10):E1362-9 J. Clin. Endocrinol. Metab.
Publisher:
Endocrine Society
Journal:
The Journal of Clinical Endocrinology and Metabolism
Issue Date:
Oct-2015
URI:
http://hdl.handle.net/11287/618134
DOI:
10.1210/jc.2015-1827
PubMed ID:
26259131
Additional Links:
http://www.ncbi.nlm.nih.gov/pmc/articles/pmid/26259131/
Note:
This article is freely available via PubMed Central. Click on the 'Additional Link' above to access the full text.
Type:
Journal Article; Research Support, Non-U.S. Gov't
Language:
en
ISSN:
1945-7197
Appears in Collections:
2015 RD&E publications; Diabetes/Endocrine Services; Molecular Genetics

Full metadata record

DC FieldValue Language
dc.contributor.authorDimitri, P.en
dc.contributor.authorHabeb, A. M.en
dc.contributor.authorGurbuz, F.en
dc.contributor.authorMillward, A.en
dc.contributor.authorWallis, S.en
dc.contributor.authorMoussa, K.en
dc.contributor.authorAkcay, T.en
dc.contributor.authorTaha, D.en
dc.contributor.authorHogue, J.en
dc.contributor.authorSlavotinek, A.en
dc.contributor.authorWales, J. K. H.en
dc.contributor.authorShetty, A.en
dc.contributor.authorHawkes, D.en
dc.contributor.authorHattersley, Andrew T.en
dc.contributor.authorEllard, Sianen
dc.contributor.authorDe Franco, Elisaen
dc.date.accessioned2016-08-09T14:22:33Z-
dc.date.available2016-08-09T14:22:33Z-
dc.date.issued2015-10-
dc.identifier.citationExpanding the Clinical Spectrum Associated With GLIS3 Mutations. 2015, 100 (10):E1362-9 J. Clin. Endocrinol. Metab.en
dc.identifier.issn1945-7197-
dc.identifier.pmid26259131-
dc.identifier.doi10.1210/jc.2015-1827-
dc.identifier.urihttp://hdl.handle.net/11287/618134-
dc.description.abstractGLIS3 (GLI-similar 3) is a member of the GLI-similar zinc finger protein family encoding for a nuclear protein with 5 C2H2-type zinc finger domains. The protein is expressed early in embryogenesis and plays a critical role as both a repressor and activator of transcription. Human GLIS3 mutations are extremely rare.en
dc.language.isoenen
dc.publisherEndocrine Societyen
dc.relation.urlhttp://www.ncbi.nlm.nih.gov/pmc/articles/pmid/26259131/en
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.titleExpanding the Clinical Spectrum Associated With GLIS3 Mutations.en
dc.typeJournal Articleen
dc.typeResearch Support, Non-U.S. Gov'ten
dc.identifier.journalThe Journal of Clinical Endocrinology and Metabolismen
dc.description.noteThis article is freely available via PubMed Central. Click on the 'Additional Link' above to access the full text.en
dc.type.versionPublisheden

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