De novo GNAS-Gsα variant (p.Thr55Ala) with constitutive gain-of-function effects on AVPR2 and PTH1R signalings

Journal of Human Genetics 2026

View at publisher
Authors: Maiko Ikeda, Chikahiko Numakura, Gen Nishimura, Naoya Saijo, Jun Takayama, Yasuko Fujisawa, Toru Sengoku, Kazuhiro Ogata, Hirotomo Saitsu, Tsutomu Ogata
DOI: 10.1038/s10038-025-01448-5
Cited by: 1
References: 32

Fields of Study & Subjects

Blood disorders and treatments Genetic Syndromes and Imprinting Ion Transport and Channel Regulation

Publication details

Journal / source
Journal of Human Genetics
Publisher
Springer Science and Business Media LLC
Volume
71
Issue
6
Pages
383–390
Publication date
13 January 2026
Language
EN