A Novel GJB2 Mutation p.Asn54His in a Patient with Palmoplantar Keratoderma, Sensorineural Hearing Loss and Knuckle Pads-Reference-Cited by-同舟云学术

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A Novel GJB2 Mutation p.Asn54His in a Patient with Palmoplantar Keratoderma, Sensorineural Hearing Loss and Knuckle Pads

Published:2007-06 Issue:6 Volume:127 Page:1540-1543
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Akiyama Masashi,Sakai Kaori,Arita Ken,Nomura Yukiko,Ito Kei,Kodama Kazuo,McMillan James R.,Kobayashi Kinuko,Sawamura Daisuke,Shimizu Hiroshi

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference19 articles.

1. G59S mutation in the GJB2 (connexin 26) gene in a patient with Bart–Pumphrey syndrome;Alexandrino;Am J Med Genet,2005

2. A novel N14Y mutation in connexin26 in KID syndrome – analyses of altered gap junctional communication and molecular structure of N-terminus of mutated connexin26;Arita;Am J Pathol,2006

3. Knuckle pads, leukonychia and deafness – a dominant inherited syndrome;Bart;New Engl J Med,1967

4. A novel GJB2 (connexin 26) mutation, F142L, in a patient with unusual mucocutaneous findings and deafness;Brown;J Invest Dermatol,2003

5. A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350);Heathcote;J Med Genet,2000

Cited by 20 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. Case Report: A Novel GJB2 Missense Variant Inherited From the Low-Level Mosaic Mother in a Chinese Female With Palmoplantar Keratoderma With Deafness;Frontiers in Genetics;2022-07-22

2. A novel autosomal recessive GJB2 -associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma;Human Mutation;2018-12-01

3. Crucial motifs and residues in the extracellular loops influence the formation and specificity of connexin docking;Biochimica et Biophysica Acta (BBA) - Biomembranes;2018-01

4. Functional Analysis of a Novel Connexin30 Mutation in a Large Family with Hearing Loss, Pesplanus, Ichthyosis, Cutaneous Nodules, and Keratoderma;Annals of Human Genetics;2015-11-30

5. Connexins and skin disease: insights into the role of beta connexins in skin homeostasis;Cell and Tissue Research;2015-01-24

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