Associated Papers
KLHL24 associated cardiomyopathy: Gene function to clinical management.
Johnson N et al.
Gene, 2025
NMPhenogen: a comprehensive database for genotype-phenotype correlation in neuromuscular genetic disorders.
Manjunath U et al.
Frontiers in Neuroscience, 2025
41262473 (PubMed )
Supplement: Table_1.XLSX › Sheet2
Syndromic epidermolysis bullosa simplex subtype due to mutations in the KLHL24 gene: series of case reports in Russian families.
Kotalevskaya YY et al.
Frontiers in Medicine, 2024
Clinical Outcome in KLHL24 Cardiomyopathy.
Vermeer MCSC et al.
Circulation. Genomic and Precision Medicine, 2023
Towards a Better Understanding of Genotype-Phenotype Correlations and Therapeutic Targets for Cardiocutaneous Genes: The Importance of Functional Studies above Prediction.
Vermeer MCSC et al.
International Journal of Molecular Sciences, 2022
Case of inherited epidermolysis bullosa simplex with KLHL24 gene mutation in Japan.
Miyake T et al.
The Journal of Dermatology, 2022
Gain-of-function mutation in ubiquitin-ligase KLHL24 causes desmin degradation and dilatation in hiPSC-derived engineered heart tissues.
Vermeer MC et al.
The Journal of Clinical Investigation, 2021
Case Report: De novo KLHL24 Gene Pathogenic Variants in Chinese Twin Boys With Epidermolysis Bullosa Simplex.
Xu X et al.
Frontiers in Genetics, 2021
Cardiac transplant for epidermolysis bullosa simplex with KLHL24 mutation-associated cardiomyopathy.
Grilletta EA
Jaad Case Reports, 2019
Advances in understanding the molecular basis of skin fragility.
Has C
F1000research, 2018
Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex.
Lee JYW et al.
The Journal of Investigative Dermatology, 2017
The "Kelch" Surprise: KLHL24, a New Player in the Pathogenesis of Skin Fragility.
Has C
The Journal of Investigative Dermatology, 2017
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