In-frame seven amino-acid duplication in AIP arose over the last 3000 years, disrupts protein interaction and stability and is associated with gigantism.

2.50
Hdl Handle:
http://hdl.handle.net/11287/620399
Title:
In-frame seven amino-acid duplication in AIP arose over the last 3000 years, disrupts protein interaction and stability and is associated with gigantism.
Authors:
Salvatori, R.; Radian, S.; Diekmann, Y.; Iacovazzo, D.; David, A.; Gabrovska, P.; Grassi, G.; Bussell, Anna-Marie; Stals, Karen; Weber, A.; Quinton, R.; Crowne, E. C.; Corazzini, V.; Metherell, L.; Kearney, T.; Du Plessis, D.; Sinha, A. K.; Baborie, A.; Lecoq, A-L; Chanson, P.; Ansorge, O.; Ellard, Sian ( 0000-0002-7620-5526 ) ; Trainer, P. J.; Balding, D.; Thomas, M. G.; Korbonits, M.
Abstract:
Mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene are associated with pituitary adenoma, acromegaly and gigantism. Identical alleles in unrelated pedigrees could be inherited from a common ancestor or result from recurrent mutation events.
Citation:
In-frame seven amino-acid duplication in AIP arose over the last 3000 years, disrupts protein interaction and stability and is associated with gigantism. 2017, 177 (3):257-266 Eur. J. Endocrinol.
Publisher:
BioScientifica
Journal:
European journal of endocrinology
Issue Date:
Sep-2017
URI:
http://hdl.handle.net/11287/620399
DOI:
10.1530/EJE-17-0293
PubMed ID:
28634279
Additional Links:
http://www.eje-online.org/cgi/pmidlookup?view=long&pmid=28634279
Type:
Journal Article
Project details (details from EDGE):
EDGE Project ID: 1721
Language:
en
ISSN:
1479-683X
Appears in Collections:
Molecular Genetics; 2017 RD&E publications

Full metadata record

DC FieldValue Language
dc.contributor.authorSalvatori, R.en
dc.contributor.authorRadian, S.en
dc.contributor.authorDiekmann, Y.en
dc.contributor.authorIacovazzo, D.en
dc.contributor.authorDavid, A.en
dc.contributor.authorGabrovska, P.en
dc.contributor.authorGrassi, G.en
dc.contributor.authorBussell, Anna-Marieen
dc.contributor.authorStals, Karenen
dc.contributor.authorWeber, A.en
dc.contributor.authorQuinton, R.en
dc.contributor.authorCrowne, E. C.en
dc.contributor.authorCorazzini, V.en
dc.contributor.authorMetherell, L.en
dc.contributor.authorKearney, T.en
dc.contributor.authorDu Plessis, D.en
dc.contributor.authorSinha, A. K.en
dc.contributor.authorBaborie, A.en
dc.contributor.authorLecoq, A-Len
dc.contributor.authorChanson, P.en
dc.contributor.authorAnsorge, O.en
dc.contributor.authorEllard, Sianen
dc.contributor.authorTrainer, P. J.en
dc.contributor.authorBalding, D.en
dc.contributor.authorThomas, M. G.en
dc.contributor.authorKorbonits, M.en
dc.date.accessioned2017-09-11T15:11:00Z-
dc.date.available2017-09-11T15:11:00Z-
dc.date.issued2017-09-
dc.identifier.citationIn-frame seven amino-acid duplication in AIP arose over the last 3000 years, disrupts protein interaction and stability and is associated with gigantism. 2017, 177 (3):257-266 Eur. J. Endocrinol.en
dc.identifier.issn1479-683X-
dc.identifier.pmid28634279-
dc.identifier.doi10.1530/EJE-17-0293-
dc.identifier.urihttp://hdl.handle.net/11287/620399-
dc.description.abstractMutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene are associated with pituitary adenoma, acromegaly and gigantism. Identical alleles in unrelated pedigrees could be inherited from a common ancestor or result from recurrent mutation events.en
dc.language.isoenen
dc.publisherBioScientificaen
dc.relation.urlhttp://www.eje-online.org/cgi/pmidlookup?view=long&pmid=28634279en
dc.rightsArchived with thanks to European journal of endocrinologyen
dc.subjectWessex Classification Subject Headings::Oncology. Pathology.::Geneticsen
dc.titleIn-frame seven amino-acid duplication in AIP arose over the last 3000 years, disrupts protein interaction and stability and is associated with gigantism.en
dc.typeJournal Articleen
dc.identifier.journalEuropean journal of endocrinologyen
dc.type.versionPublisheden
dc.description.projectreferencenumberEDGE Project ID: 1721en

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