Epidermolysis Bullosa Simplex with KLHL24 Mutations Is Associated with Dilated Cardiomyopathy-Reference-Cited by-同舟云学术

Epidermolysis Bullosa Simplex with KLHL24 Mutations Is Associated with Dilated Cardiomyopathy

Published:2019-01 Issue:1 Volume:139 Page:244-249
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Schwieger-Briel Agnes,Fuentes Ignacia,Castiglia Daniele,Barbato Antonio,Greutmann Matthias,Leppert Juna,Duchatelet Sabine,Hovnanian Alain,Burattini Sofia,Yubero M. Joao,Ibañez-Arenas Rodrigo,Rebolledo-Jaramillo Boris,Gräni Christoph,Ott Hagen,Theiler Martin,Weibel Lisa,Paller Amy S.,Zambruno Giovanna,Fischer Judith,Palisson Francis,Has Cristina

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

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4. Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification;Fine;J Am Acad Dermatol,2014

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

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1. Unveiling the Spectrum of Minor Genes in Cardiomyopathies: A Narrative Review;International Journal of Molecular Sciences;2024-09-10

2. Epidemiology of epidermolysis bullosa in Chile;British Journal of Dermatology;2024-06-11

3. Clinical Outcome in KLHL24 Cardiomyopathy;Circulation: Genomic and Precision Medicine;2023-08

4. A translation re-initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation;British Journal of Dermatology;2022-12-01

5. KLHL24-Mediated Hair Follicle Stem Cells Structural Disruption Causes Alopecia;Journal of Investigative Dermatology;2022-08