Associated Papers
The p.Asn176Ser Variant of KRT5 at the Heptad "e" Position of the Helix Initiation Motif Causes Severe Epidermolysis Bullosa Simplex.
Hashimoto T et al.
The Journal of Dermatology, 2025
Management of Refractory Infections in a Neonate With Severe Generalized Epidermolysis Bullosa Simplex: A Case Report.
Maekawa M et al.
Cureus, 2025
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
Severe Generalized Epidermolysis Bullosa Simplex in Two Hong Kong Children due to De Novo Variants in KRT14 and KRT5.
Chong SC et al.
Case Reports in Pediatrics, 2020
Epidermolysis bullosa simplex generalized severe induces a T helper 17 response and is improved by apremilast treatment.
Castela E et al.
The British Journal of Dermatology, 2019
The Position of Targeted Next-generation Sequencing in Epidermolysis Bullosa Diagnosis.
Has C et al.
Acta Dermato-venereologica, 2018
Desmoplakin interacts with the coil 1 of different types of intermediate filament proteins and displays high affinity for assembled intermediate filaments.
Favre B et al.
Plos One, 2018
The first familial cases of epidermolysis bullosa simplex, generalized severe with p.Asn176Ser in KRT5 revealing the clinical chronology.
Sugai T et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2017
Amplicon-based next-generation sequencing: an effective approach for the molecular diagnosis of epidermolysis bullosa.
Tenedini E et al.
The British Journal of Dermatology, 2015
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases.
Yasukawa K et al.
The British Journal of Dermatology, 2006
Three severe cases of EBS Dowling-Meara caused by missense and frameshift mutations in the keratin 14 gene.
Titeux M et al.
The Journal of Investigative Dermatology, 2006
Modeling effects of mutations in coiled-coil structures: case study using epidermolysis bullosa simplex mutations in segment 1a of K5/K14 intermediate filaments.
Smith TA et al.
Proteins, 2004
A mutation (N177S) in the structurally conserved helix initiation peptide motif of keratin 5 causes a mild EBS phenotype.
Liovic M et al.
Experimental Dermatology, 2004
Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations.
Schuilenga-Hut PH et al.
Human Mutation, 2003
[Epidermolysis bullosa simplex: genotype-phenotype correlation in Danish patients].
Sørensen CB et al.
Ugeskrift for Laeger, 2000
Laryngeal involvement in the Dowling-Meara variant of epidermolysis bullosa simplex with keratin mutations of severely disruptive potential.
Shemanko CS et al.
The British Journal of Dermatology, 2000
Donor splice site mutation in keratin 5 causes in-frame removal of 22 amino acids of H1 and 1A rod domains in Dowling-Meara epidermolysis bullosa simplex.
Rugg EL et al.
European Journal of Human Genetics : Ejhg, 1999
Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.
Sørensen CB et al.
The Journal of Investigative Dermatology, 1999
Primers for exon-specific amplification of the KRT5 gene: identification of novel and recurrent mutations in epidermolysis bullosa simplex patients.
Stephens K et al.
The Journal of Investigative Dermatology, 1997