A recessive mutation in the DSP gene linked to cardiomyopathy, skin fragility and hair defects impairs the binding of desmoplakin to epidermal keratins and the muscle-specific intermediate filament desmin-Reference-Cited by-同舟云学术

A recessive mutation in the DSP gene linked to cardiomyopathy, skin fragility and hair defects impairs the binding of desmoplakin to epidermal keratins and the muscle-specific intermediate filament desmin

Published:2018-07-31 Issue:3 Volume:179 Page:797-799
ISSN:0007-0963
Container-title:British Journal of Dermatology
language:en
Short-container-title:Br J Dermatol

Author:

Favre B.¹^ORCID,Begré N.¹,Borradori L.¹

Affiliation:

1. Department of Dermatology; Inselspital; Bern University Hospital; Department for BioMedical Research (DBMR); University of Bern; Bern Switzerland

Publisher

Wiley

Subject

Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/bjd.16832/fullpdf

Reference8 articles.

1. Inherited desmosomal disorders;Samuelov;Cell Tissue Res,2015

2. Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples;Walsh;Genet Med,2017

3. A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair;Alcalai;J Am Coll Cardiol,2003

4. Development of a novel green fluorescent protein-based binding assay to study the association of plakins with intermediate filament proteins;Favre;Methods Enzymol,2016

5. Desmoplakin: an unexpected regulator of microtubule organization in the epidermis;Lechler;J Cell Biol,2007

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