Cardiomyopathy in patients with epidermolysis bullosa simplex with mutations in KLHL24-Reference-Cited by-同舟云学术

Cardiomyopathy in patients with epidermolysis bullosa simplex with mutations in KLHL24

Published:2018-08-14 Issue:5 Volume:179 Page:1181-1183
ISSN:0007-0963
Container-title:British Journal of Dermatology
language:en
Short-container-title:Br J Dermatol

Author:

Yenamandra V.K.¹^ORCID,van den Akker P.C.²,Lemmink H.H.²,Jan S.Z.²,Diercks G.F.H.³,Vermeer M.⁴,van den Berg M.P.⁴,van der Meer P.⁴,Pasmooij A.M.G.¹,Sinke R.J.²,Jonkman M.F.¹^ORCID,Bolling M.C.¹

Affiliation:

1. Department of Dermatology; Center for Blistering Diseases; Groningen The Netherlands

2. Department of Genetics; Groningen The Netherlands

3. Department of Pathology; Groningen The Netherlands

4. Department of Cardiology; Groningen The Netherlands

Funder

Dutch Butterfly Child Foundation

Publisher

Wiley

Subject

Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/bjd.16797/fullpdf

Reference5 articles.

1. Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility;Lin;Nat Genet,2016

2. Monoallelic mutations in the translation initiation codon of KLHL24 cause skin fragility;He;Am J Hum Genet,2016

3. Mutations in KLHL24 add to the molecular heterogeneity of epidermolysis bullosa simplex;Lee;J Invest Dermatol,2017

4. Hypertrophic cardiomyopathy and abnormal glycogen storage in heart and skeletal muscle associated with inactivation of KLHL24;Hedberg-Oldfors;Neuromuscul Disord,2016

5. Accumulation of 5-oxoproline in myocardial dysfunction and the protective effects of OPLAH;Van der Pol;Sci Transl Med,2017

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2. Evolution of genome diagnostics in epidermolysis bullosa: Unveiling the power of next‐generation sequencing;Journal of the European Academy of Dermatology and Venereology;2024-03-11

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