Functional investigation of two simultaneous or separately segregating <i>DSP</i> variants within a single family supports the theory of a dose‐dependent disease severity-Reference-Cited by-同舟云学术

Functional investigation of two simultaneous or separately segregating DSP variants within a single family supports the theory of a dose‐dependent disease severity

Published:2022-04 Issue:6 Volume:31 Page:970-979
ISSN:0906-6705
Container-title:Experimental Dermatology
language:en
Short-container-title:Experimental Dermatology

Author:

Vermeer Mathilde C. S. C.¹^ORCID,Andrei Daniela²,Kramer Duco²,Nijenhuis Albertine M.²,Hoedemaekers Yvonne M.³,Westers Helga⁴,Jongbloed Jan D. H.⁴,Pas Hendri H.²,van den Berg Maarten P.¹,Silljé Herman H. W.¹,van der Meer Peter¹,Bolling Maria C.²

Affiliation:

1. Department of Cardiology University Medical Center Groningen University of Groningen Groningen The Netherlands

2. Department of Dermatology University Medical Center Groningen University of Groningen Groningen The Netherlands

3. Department of Genetics Radboud University Medical Center Radboud University Nijmegen Nijmegen The Netherlands

4. Department of Genetics University Medical Center Groningen University of Groningen Groningen The Netherlands

Funder

Human Frontier Science Program

Publisher

Wiley

Subject

Dermatology,Molecular Biology,Biochemistry

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/exd.14571

Reference35 articles.

1. Desmosomes: Regulators of Cellular Signaling and Adhesion in Epidermal Health and Disease

2. Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy

3. Naxos disease and Carvajal syndrome

4. Desmoplakin II expression is not restricted to stratified epithelia

5. Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome

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