Germline-Derived Gain-of-Function Variants of Gsα-Coding GNAS Gene Identified in Nephrogenic Syndrome of Inappropriate Antidiuresis

BACKGROUND: The stimulatory G-protein α-subunit encoded by GNAS exons 1–13 (GNAS-Gsα) mediates signal transduction of multiple G protein–coupled receptors, including arginine vasopressin receptor 2 (AVPR2). Various germline-derived loss-of-function GNAS-Gsα variants of maternal and paternal origin h...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:J Am Soc Nephrol
Main Authors: Miyado, Mami, Fukami, Maki, Takada, Shuji, Terao, Miho, Nakabayashi, Kazuhiko, Hata, Kenichiro, Matsubara, Yoichi, Tanaka, Yoko, Sasaki, Goro, Nagasaki, Keisuke, Shiina, Masaaki, Ogata, Kazuhiro, Masunaga, Youhei, Saitsu, Hirotomo, Ogata, Tsutomu
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Nephrology 2019
Assuntos:
Clinical Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6493982/
https://ncbi.nlm.nih.gov/pubmed/30962325
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2018121268
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados