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...

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Detalles Bibliográficos
Publicado en:J Am Soc Nephrol
Autores principales: 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
Lenguaje:Inglês
Publicado: American Society of Nephrology 2019
Materias:
Clinical Research
Acceso en línea: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
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