Novel mutations in desmoglein 1: focal palmoplantar keratoderma in milder phenotypes-Reference-Cited by-同舟云学术

Novel mutations in desmoglein 1: focal palmoplantar keratoderma in milder phenotypes

Published:2019-06-02 Issue:3 Volume:181 Page:618-620
ISSN:0007-0963
Container-title:British Journal of Dermatology
language:en
Short-container-title:Br J Dermatol

Author:

Zamiri M.¹^ORCID,Wilson N.J.²,O'Toole E.A.³,Smith F.J.D.²⁴

Affiliation:

1. Alan Lyell Centre for Dermatology Queen Elizabeth University Hospital Glasgow U.K.

2. Dermatology and Genetic Medicine Division of Biological Chemistry and Drug Discovery School of Life Sciences University of Dundee Dundee U.K.

3. Centre for Cell Biology and Cutaneous Research Blizard Institute, Barts and the London School of Medicine and Dentistry Queen Mary University of London London U.K.

4. Pachyonychia Congenita Project Holladay Utah U.S.A.

Funder

Wellcome Trust

Publisher

Wiley

Subject

Dermatology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/bjd.17839

Reference8 articles.

1. Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma

2. Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma [published erratum appears in Hum Mol Genet 1999 May;8(5):943]

3. Frameshift Mutation in the V2 Domain of Human Keratin 1 Results in Striate Palmoplantar Keratoderma

4. Pachyonychia Congenita (K16) with Unusual Features and Good Response to Acitretin

5. Identification and characterization of genes that are required for the accelerated degradation of mRNAs containing a premature translational termination codon.

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1. Acantholytic dyskeratotic epidermal naevus and striate palmoplantar keratoderma associated with DSG1 mutation: evidence for segmental type 2 mosaicism;Journal of the European Academy of Dermatology and Venereology;2021-02-12

2. Distinctions in the Management, Patient Impact, and Clinical Profiles of Pachyonychia Congenita Subtypes;Skin Appendage Disorders;2021