Pathogenic variants of the GNAS gene introduce an abnormal amino acid sequence in the β6 strand/α5 helix of Gsα, causing pseudohypoparathyroidism type 1A and pseudopseudohypoparathyroidism in two unrelated Japanese families-Reference-Cited by-同舟云学术

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Pathogenic variants of the GNAS gene introduce an abnormal amino acid sequence in the β6 strand/α5 helix of Gsα, causing pseudohypoparathyroidism type 1A and pseudopseudohypoparathyroidism in two unrelated Japanese families

Published:2022-12 Issue: Volume:17 Page:101637
ISSN:2352-1872
Container-title:Bone Reports
language:en
Short-container-title:Bone Reports

Author:

Ohata Yasuhisa,Kakimoto Haruna,Seki Yuko,Ishihara Yasuki,Nakano Yukako,Yamamoto Kenichi,Takeyari Shinji,Fujiwara Makoto,Kitaoka Taichi,Takakuwa Satoshi,Kubota Takuo,Ozono Keiichi

Publisher

Elsevier BV

Subject

Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism

Reference21 articles.

1. Germline mosaicism for a GNAS1 mutation and Albright hereditary osteodystrophy;Aldred;J. Med. Genet.,2000

2. Can AlphaFold2 predict the impact of missense mutations on structure?;Buel;Nat. Struct. Mol. Biol.,2022

3. Conformational changes in the G protein gs induced by the beta2 adrenergic receptor;Chung;Nature,2011

4. The prevalence of GNAS deficiency-related diseases in a large cohort of patients characterized by the EuroPHP network;Elli;J. Clin. Endocrinol. Metab.,2016

5. Novel microdeletions affecting the GNAS locus in pseudohypoparathyroidism: characterization of the underlying mechanisms;Garin;J. Clin. Endocrinol. Metab.,2015

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