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

OBJECTIVE: 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. DESIGN AND METHODS: Obser...

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Detalles Bibliográficos
Autores principales: Salvatori, Roberto, Radian, Serban, Diekmann, Yoan, Iacovazzo, Donato, David, Alessia, Gabrovska, Plamena, Grassi, Giorgia, Bussell, Anna-Marie, Stals, Karen, Weber, Astrid, Quinton, Richard, Crowne, Elizabeth C, Corazzini, Valentina, Metherell, Lou, Kearney, Tara, Du Plessis, Daniel, Sinha, Ajay Kumar, Baborie, Atik, Lecoq, Anne-Lise, Chanson, Philippe, Ansorge, Olaf, Ellard, Sian, Trainer, Peter J, Balding, David, Thomas, Mark G, Korbonits, Márta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2017
Materias:
Clinical Study
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5510572/
https://www.ncbi.nlm.nih.gov/pubmed/28634279
http://dx.doi.org/10.1530/EJE-17-0293

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