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

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Title: De novo GNAS-Gsα variant (p.Thr55Ala) with constitutive gain-of-function effects on AVPR2 and PTH1R signalings.
Authors: Ikeda M; Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan., Numakura C; Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan.; Department of Genomic Medicine, Saitama Medical University Hospital, Iruma, Japan., Nishimura G; Department of Radiology, Musashino-Yowakai Hospital, Tokyo, Japan., Saijo N; Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan., Takayama J; Department of AI and Innovative Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan.; Department of Rare Disease Genomics, Tohoku University Graduate School of Medicine, Sendai, Japan.; Statistical Genetics Team, RIKEN Center for Advanced Intelligence Project, Tokyo, Japan., Fujisawa Y; Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan., Sengoku T; Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Ogata K; Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Innovation & Research Support Center, Graduate School, International University of Health and Welfare, Tokyo, Japan., Saitsu H; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan., Ogata T; Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan. tomogata@hama-med.ac.jp.; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan. tomogata@hama-med.ac.jp.; Department of Pediatrics, Hamamatsu Medical Center, Hamamatsu, Japan. tomogata@hama-med.ac.jp.
Source: Journal of human genetics [J Hum Genet] 2026 Jun; Vol. 71 (6), pp. 383-390. Date of Electronic Publication: 2026 Jan 13.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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ISSN:1435-232X
DOI:10.1038/s10038-025-01448-5