Associated Papers
46,XY DSD with Partial Gonadal Dysgenesis and Growth Failure in a Patient with 3q27.1 Microdeletion: Candidate Gene Curation After Exhaustive Literature Review.
Correa Brito L et al.
International Journal of Molecular Sciences, 2026
KLHL24 associated cardiomyopathy: Gene function to clinical management.
Johnson N et al.
Gene, 2025
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
Excess KLHL24 Impairs Skin Wound Healing through the Degradation of Vimentin.
Liu Y et al.
The Journal of Investigative Dermatology, 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
KLHL24-Mediated Hair Follicle Stem Cells Structural Disruption Causes Alopecia.
Cui J et al.
The Journal of Investigative Dermatology, 2022
Proteasome-mediated degradation of keratins 7, 8, 17 and 18 by mutant KLHL24 in a foetal keratinocyte model: Novel insight in congenital skin defects and fragility of epidermolysis bullosa simplex with cardiomyopathy.
Logli E et al.
Human Molecular Genetics, 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
KLHL24: Beyond Skin Fragility.
Bolling MC et al.
The Journal of Investigative Dermatology, 2019
Advances in understanding the molecular basis of skin fragility.
Has C
F1000research, 2018
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