Maternal Transmission Ratio Distortion ofGNASLoss‐of‐Function Mutations-Reference-Cited by-同舟云学术

Maternal Transmission Ratio Distortion ofGNASLoss‐of‐Function Mutations

Published:2020-01-13 Issue:5 Volume:35 Page:913-919
ISSN:0884-0431
Container-title:Journal of Bone and Mineral Research
language:en
Short-container-title:J Bone Miner Res

Author:

Snanoudj Sarah¹,Molin Arnaud¹,Colson Cindy¹,Coudray Nadia¹,Paulien Sylvie¹,Mittre Hervé¹,Gérard Marion¹,Schaefer Elise²,Goldenberg Alice³,Bacchetta Justine⁴,Odent Sylvie⁵,Naudion Sophie⁶,Demeer Bénédicte⁷,Faivre Laurence⁸,Gruchy Nicolas¹,Kottler Marie‐Laure¹^ORCID,Richard Nicolas¹^ORCID

Affiliation:

1. Normandie Université, UNICAEN, CHU de Caen Normandie, Department of GeneticsReference Center for Rare Diseases of Calcium and Phosphorus Metabolism, EA7450 BioTARGen Caen France

2. Department of GeneticsCHU de Strasbourg Strasbourg France

3. Department of GeneticsCHU de Rouen Rouen France

4. Department of Pediatric Nephrology, Rheumatology and DermatologyCHU de Lyon Bron France

5. Department of GeneticsCHU de Rennes Rennes France

6. Department of GeneticsCHU de Bordeaux Bordeaux France

7. Department of GeneticsCHU d'Amiens Amiens France

8. Department of GeneticsCHU de Dijon Dijon France

Publisher

Wiley

Subject

Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jbmr.3948

Reference47 articles.

1. Pseudohypoparathyroidism ‐ an example of “Seabright” syndrome;Albright F;Endocrinology,1942

2. Albright's Hereditary Osteodystrophy and Defective G Proteins

3. Inherited Diseases Involving G Proteins and G Protein–Coupled Receptors

4. Mutations paternelles de GNAS : quels phénotypes ? Quel conseil génétique ?

5. Progressive Osseous Heteroplasia: A Model for the Imprinting Effects of GNAS Inactivating Mutations in Humans

Cited by 11 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. GNAS locus: bone related diseases and mouse models;Frontiers in Endocrinology;2023-10-18

2. Whole‐genome sequencing revealed a novel long‐range deletion mutation spanning GNAS in familial pseudohypoparathyroidism;Molecular Genetics & Genomic Medicine;2023-01-20

3. Bypassing Mendel’s First Law: Transmission Ratio Distortion in Mammals;International Journal of Molecular Sciences;2023-01-13

4. 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;Bone Reports;2022-12

5. Pseudo-hypoparathyroïdie et ses variants;médecine/sciences;2022-08