A FUNCTIONAL HAPLOTYPE IN EIF2AK3, AN ER STRESS SENSOR, IS ASSOCIATED WITH LOWER BONE MINERAL DENSITY

EIF2AK3 is a type I transmembrane protein that functions as an endoplasmic reticulum (ER) stress sensor to regulate global protein synthesis. Rare mutations in EIF2AK3 cause Wolcott-Rallison syndrome (OMIM 226980), an autosomal recessive disorder characterized by diabetes, epiphyseal dysplasia, oste...

Descripción completa

Guardado en:
Detalles Bibliográficos
Autores principales: Liu, Jie, Hoppman, Nicole, O'Connell, Jeffrey R, Wang, Hong, Streeten, Elizabeth A, McLenithan, John C, Mitchell, Braxton D, Shuldiner, Alan R
Formato: Artigo
Lenguaje:Inglês
Publicado: 2012
Materias:
Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3319695/
https://ncbi.nlm.nih.gov/pubmed/22028037
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jbmr.549
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!

Ejemplares similares