Associated Papers
Genetic profiling of epidermolysis bullosa in a large Brazilian cohort.
Ota VK et al.
Clinical and Experimental Dermatology, 2025
KLHL24 associated cardiomyopathy: Gene function to clinical management.
Johnson N et al.
Gene, 2025
Generation and genetic repair of two human induced pluripotent stem cell lines from patients with Epidermolysis Bullosa simplex associated with a heterozygous mutation in the translation initiation codon of KLHL24.
Pachis ST et al.
Stem Cell Research, 2024
EBS in Children with De Novo Pathogenic Variants Disturbing Krt14.
Kosykh AV et al.
International Journal of Molecular Sciences, 2024
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
Genotype and phenotype correlations in 441 patients with epidermolysis bullosa from China.
Chen F et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2023
A translation re-initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation.
Vermeer MCSC et al.
The British Journal of Dermatology, 2022
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
Genotype-phenotype correlations on epidermolysis bullosa with congenital absence of skin: A comprehensive review.
Mariath LM et al.
Clinical Genetics, 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
Kelch-like proteins: Physiological functions and relationships with diseases.
Shi X et al.
Pharmacological Research, 2019
KLHL24: Beyond Skin Fragility.
Bolling MC et al.
The Journal of Investigative Dermatology, 2019
Cardiomyopathy in patients with epidermolysis bullosa simplex with mutations in KLHL24.
Yenamandra VK et al.
The British Journal of Dermatology, 2018
Burnlike scars: A sign suggestive of KLHL24-related epidermolysis bullosa simplex.
Alkhalifah A et al.
Pediatric Dermatology, 2018
The Position of Targeted Next-generation Sequencing in Epidermolysis Bullosa Diagnosis.
Has C et al.
Acta Dermato-venereologica, 2018
Advances in understanding the molecular basis of skin fragility.
Has C
F1000research, 2018
Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.
Meng L et al.
Jama Pediatrics, 2017
The "Kelch" Surprise: KLHL24, a New Player in the Pathogenesis of Skin Fragility.
Has C
The Journal of Investigative Dermatology, 2017
Monoallelic Mutations in the Translation Initiation Codon of KLHL24 Cause Skin Fragility.
He Y et al.
American Journal of Human Genetics, 2016
Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility.
Lin Z et al.
Nature Genetics, 2016
Novel Clinical Observations Indicative of Epidermolysis Bullosa Simplex Associated With KLHL24.
Anzelc M et al.
Pediatric Dermatology, 0