A Novel N14Y Mutation in Connexin26 in Keratitis-Ichthyosis-Deafness Syndrome-Reference-Cited by-同舟云学术

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A Novel N14Y Mutation in Connexin26 in Keratitis-Ichthyosis-Deafness Syndrome

Published:2006-08 Issue:2 Volume:169 Page:416-423
ISSN:0002-9440
Container-title:The American Journal of Pathology
language:en
Short-container-title:The American Journal of Pathology

Author:

Arita Ken,Akiyama Masashi,Aizawa Tomoyasu,Umetsu Yoshitaka,Segawa Ikuo,Goto Maki,Sawamura Daisuke,Demura Makoto,Kawano Keiichi,Shimizu Hiroshi

Publisher

Elsevier BV

Subject

Pathology and Forensic Medicine

Reference29 articles.

1. Human diseases: clues to cracking the connexin code?;Kelsell;Trends Cell Biol,2001

2. Connexin mutations in hearing loss, dermatological and neurological disorders;Rabionet;Trends Mol Med,2002

3. A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families;Maestrini;Hum Mol Genet,1999

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

5. Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma;Richard;Hum Genet,1998

Cited by 42 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. Functional Consequences of Pathogenic Variants of the GJB2 Gene (Cx26) Localized in Different Cx26 Domains;Biomolecules;2023-10-13

2. Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants;Biology;2023-03-27

3. A possible role for second‐hit postzygotic GJB2 mutation in porokeratotic eccrine ostial and dermal duct nevus;The Journal of Dermatology;2022-12-07

4. Allele-Specific Small Interfering RNA Corrects Aberrant Cellular Phenotype in Keratitis-Ichthyosis-Deafness Syndrome Keratinocytes;Journal of Investigative Dermatology;2020-05

5. Extending the phenotypic spectrum associated with mosaicism for GJB2 mutations;British Journal of Dermatology;2019-05-12

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