Thumbnail Image
Publication

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

Salvatori, R
; 
Radian, S
; 
Diekmann, Y
; 
Iacovazzo, D
; 
David, A
; 
Grabovska, P
; 
Grassi, G
; 
Bussell, A
; 
Stals, K
; 
Weber, A
... show 10 more
Citations
Altmetric:
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.
Authors
Salvatori, R
Radian, S
Diekmann, Y
Iacovazzo, D
David, A
Grabovska, P
Grassi, G
Bussell, A
Stals, K
Weber, A
Quinton, R
Crowne, E
Corazzini, V
Metherell, L
Kearney, T
Du Plessis, D
Sinha, A
Baborie, A
Locoq, A
Chanson, P
Ansorge, O
Ellard, S
Trainer, Peter J
Balding, D
Thomas, M
Korbonits, M
Affiliation
Endocrinology, Johns Hopkins University, Baltimore, 21287, United States
Description
Date
2017-06-20
Publisher
Collections
All Christie Publications
Show all metadata
Files
Thumbnail Image
Open access full text article
Adobe PDF, 1.91 MB
Keywords
Type
Article
Citation
In-frame seven amino-acid duplication in AIP arose over the last 3000 years, disrupts protein interaction & stability and is associated with gigantism. 2017 Eur J Endocrinol
Journal Title
Journal ISSN
Volume Title
URI
http://hdl.handle.net/10541/620447
Embedded videos