A heterozygous mutation in GJB2 (Cx26F142L) associated with deafness and recurrent skin rashes results in connexin assembly deficiencies-Reference-Cited by-同舟云学术

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A heterozygous mutation in GJB2 (Cx26F142L) associated with deafness and recurrent skin rashes results in connexin assembly deficiencies

Published:2020-09-22 Issue:10 Volume:29 Page:970-979
ISSN:0906-6705
Container-title:Experimental Dermatology
language:en
Short-container-title:Exp Dermatol

Author:

Albuloushi Ahmad¹,Lovgren Marie‐Louise²³,Steel Ainsley¹,Yeoh Yeelon¹,Waters Alex²,Zamiri Mozheh²⁴,Martin Patricia E.¹^ORCID

Affiliation:

1. Department of Biological and Biomedical Sciences School of Health and Life Sciences Glasgow Caledonian University Glasgow UK

2. Department of Dermatology University Hospital Crosshouse Kilmarnock UK

3. Department of Dermatology University Hospitals Birmingham NHS Foundation Trust Birmingham UK

4. Department of Dermatology Queen Elizabeth University Hospital Glasgow UK

Publisher

Wiley

Subject

Dermatology,Molecular Biology,Biochemistry

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/exd.14187

Reference51 articles.

1. Connexins and skin disease: insights into the role of beta connexins in skin homeostasis

2. Phylogenetic and bioinformatic analysis of gap junction-related proteins, innexins, pannexins and connexins

3. Multiple Epidermal Connexins are Expressed in Different Keratinocyte Subpopulations Including Connexin 31

4. Upregulation of Connexin 26 is a Feature of Keratinocyte Differentiation in Hyperproliferative Epidermis, Vaginal Epithelium, and Buccal Epithelium

5. SnapShot: Connexins and Disease

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1. Gap Junction Beta-2 p.Val84Met Can Cause Autosomal Dominant Syndromic Hearing Loss With Keratoderma;Cureus;2024-02-26

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

3. Cytomembrane Trafficking Pathways of Connexin 26, 30, and 43;International Journal of Molecular Sciences;2023-06-19

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

5. 4‐octyl itaconate improves the viability of D66H cells by regulating the KEAP1‐NRF2‐GCLC/HO‐1 pathway;Journal of Cellular and Molecular Medicine;2023-03-13

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