Revertant Mutation Releases Confined Lethal Mutation, Opening Pandora's Box: A Novel Genetic Pathogenesis-Reference-Cited by-同舟云学术

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Revertant Mutation Releases Confined Lethal Mutation, Opening Pandora's Box: A Novel Genetic Pathogenesis

Published:2014-05-01 Issue:5 Volume:10 Page:e1004276
ISSN:1553-7404
Container-title:PLoS Genetics
language:en
Short-container-title:PLoS Genet

Author:

Ogawa Yasushi,Takeichi Takuya,Kono Michihiro,Hamajima Nobuyuki,Yamamoto Toshimichi,Sugiura Kazumitsu,Akiyama Masashi

Publisher

Public Library of Science (PLoS)

Subject

Cancer Research,Genetics (clinical),Genetics,Molecular Biology,Ecology, Evolution, Behavior and Systematics

Reference22 articles.

1. The keratitis, ichthyosis, and deafness (KID) syndrome;BA Skinner;Arch Dermatol,1981

2. Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome;G Richard;Am J Hum Genet,2002

3. GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form;AR Janecke;Am J Med Genet A,2005

4. A novel N14Y mutation in Connexin26 in keratitis-ichthyosis-deafness syndrome: analyses of altered gap junctional communication and molecular structure of N terminus of mutated Connexin26;K Arita;Am J Pathol,2006

5. A large cohort study of GJB2 mutations in Japanese hearing loss patients;K Tsukada;Clin Genet,2010

Cited by 24 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. Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database;2024-06-13

2. Emergence of multiple revertant keratinocyte clones in a patient with KID syndrome;Journal of the European Academy of Dermatology and Venereology;2023-11-15

3. Functional Consequences of Pathogenic Variants of the GJB2 Gene (Cx26) Localized in Different Cx26 Domains;Biomolecules;2023-10-13

4. Keratitis‐ichthyosis‐deafness syndrome: A comprehensive review of cutaneous and systemic manifestations;Pediatric Dermatology;2022-11-29

5. Comprehensive genetic testing improves the clinical diagnosis and medical management of pediatric patients with isolated hearing loss;BMC Medical Genomics;2022-06-27

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