Associated Papers
Preclinical validation of PKC412 as a therapy candidate for epidermolysis bullosa simplex across multiple keratin pathogenic variants.
Jopp H et al.
The British Journal of Dermatology, 2025
Localized epidermolysis bullosa simplex caused by a previously unreported substitution in the linker 12 domain of keratin 14.
Misaki M et al.
The Journal of Dermatology, 2024
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Allele-Specific Inactivation of an Autosomal Dominant Epidermolysis Bullosa Simplex Mutation Using CRISPR-Cas9.
Bchetnia M et al.
The Crispr Journal, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
PDigenic Mutations in Junctional Epidermolysis Bullosa in An Iranian Family.
Riahi K et al.
Cell Journal, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Severe epidermolysis bullosa simplex phenotype caused by codominant mutations p.Ile377Thr in keratin 14 and p.Gly138Glu in keratin 5.
Bchetnia M et al.
Experimental Dermatology, 2020
Digenic inheritance of KRT5 and KRT14 mutations in a family with epidermolysis bullosa simplex.
Yu Y et al.
The Australasian Journal of Dermatology, 2020
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
The Position of Targeted Next-generation Sequencing in Epidermolysis Bullosa Diagnosis.
Has C et al.
Acta Dermato-venereologica, 2018
Digenic inheritance in epidermolysis bullosa simplex involving two novel mutations in KRT5 and KRT14.
Kim E et al.
The British Journal of Dermatology, 2017
Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype-phenotype correlation.
Wertheim-Tysarowska K et al.
Journal of Applied Genetics, 2016
A Sporadic Neonatal Case of Epidermolysis Bullosa Simplex Generalized Intermediate with KRT5 and KRT14 Gene Mutations.
Wakiguchi H et al.
Ajp Reports, 2016
Coexistence of KRT14 and KRT5 mutations in a Polish patient with epidermolysis bullosa simplex.
Wertheim-Tysarowska K et al.
The British Journal of Dermatology, 2014
Identification of novel and known KRT5 and KRT14 mutations in 53 patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.
Arin MJ et al.
The British Journal of Dermatology, 2010
Novel keratin 14 hotspot mutation in Dowling-Meara type of epidermolysis bullosa simplex: strategy to avoid KRT14 pseudogene amplification by a simple approach.
Ołdak M et al.
Journal of Dermatological Science, 2010
Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly.
Müller FB et al.
Human Mutation, 2006