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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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  Data: De novo GNAS-Gsα variant (p.Thr55Ala) with constitutive gain-of-function effects on AVPR2 and PTH1R signalings.
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  Data: <searchLink fieldCode="AU" term="%22Ikeda+M%22">Ikeda M</searchLink>; Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan.<br /><searchLink fieldCode="AU" term="%22Numakura+C%22">Numakura C</searchLink>; Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan.; Department of Genomic Medicine, Saitama Medical University Hospital, Iruma, Japan.<br /><searchLink fieldCode="AU" term="%22Nishimura+G%22">Nishimura G</searchLink>; Department of Radiology, Musashino-Yowakai Hospital, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Saijo+N%22">Saijo N</searchLink>; Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.<br /><searchLink fieldCode="AU" term="%22Takayama+J%22">Takayama J</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Fujisawa+Y%22">Fujisawa Y</searchLink>; Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan.<br /><searchLink fieldCode="AU" term="%22Sengoku+T%22">Sengoku T</searchLink>; Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan.<br /><searchLink fieldCode="AU" term="%22Ogata+K%22">Ogata K</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Saitsu+H%22">Saitsu H</searchLink>; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.<br /><searchLink fieldCode="AU" term="%22Ogata+T%22">Ogata T</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%229808008%22">Journal of human genetics</searchLink> [J Hum Genet] 2026 Jun; Vol. 71 (6), pp. 383-390. <i>Date of Electronic Publication: </i>2026 Jan 13.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Nature+Pub%2E+Group%22">Nature Pub. Group </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9808008 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1435-232X (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214345161%22">14345161 </searchLink><i>NLM ISO Abbreviation: </i>J Hum Genet <i>Subsets: </i>MEDLINE
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              Text: 2026 Jun
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