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
Molecular profiling of a cohort with epidermolysis bullosa in India: a single centre experience.
Kumar A et al.
Clinical and Experimental Dermatology, 2025
Molecular genetic basis of epidermolysis bullosa.
Kotalevskaya YY et al.
Vavilovskii Zhurnal Genetiki I Selektsii, 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
KRT5 missense variant in a Cardigan Welsh Corgi with epidermolysis bullosa simplex.
Kiener S et al.
Animal Genetics, 2022
Whole exome sequencing in a sample of Peruvian patients diagnosed with epidermolysis bullosa.
Zevallos-Morales A et al.
Dermatology Online Journal, 2022
Human-Induced Pluripotent Stem Cell‒Derived Keratinocytes, a Useful Model to Identify and Explore the Pathological Phenotype of Epidermolysis Bullosa Simplex.
Coutier J et al.
The Journal of Investigative Dermatology, 2022
Allele-Specific Inactivation of an Autosomal Dominant Epidermolysis Bullosa Simplex Mutation Using CRISPR-Cas9.
Bchetnia M et al.
The Crispr Journal, 2022
Epidermolysis Bullosa-A Different Genetic Approach in Correlation with Genetic Heterogeneity.
Pânzaru MC et al.
Diagnostics (basel, Switzerland), 2022
Epidermolysis Bullosa With Congenital Absence of Skin: Congenital Corneal Cloudiness and Esophagogastric Obstruction Including Extended Genotypic Spectrum of PLEC, LAMC2, ITGB4 and COL7A1.
Pongmee P et al.
Frontiers in Genetics, 2022
Hereditary Epidermolysis Bullosa: A Case Series.
Guillen-Climent S et al.
Actas Dermo-sifiliograficas, 2021
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
Generalized, severe epidermolysis bullosa simplex caused by a Keratin 5 p.E477K mutation.
Sheppard SE et al.
Pediatric Dermatology, 2019
Treatment of keratinocytes with 4-phenylbutyrate in epidermolysis bullosa: Lessons for therapies in keratin disorders.
Spörrer M et al.
Ebiomedicine, 2019
Epidermolysis bullosa simplex-generalized severe type due to keratin 5 p.Glu477Lys mutation: Genotype-phenotype correlation and in silico modeling analysis.
Lalor L et al.
Pediatric Dermatology, 2019
A comprehensive next-generation sequencing assay for the diagnosis of epidermolysis bullosa.
Unknown Author
Pediatric Dermatology, 2018
p.Glu477Lys mutation in keratin 5 is not necessarily mortal in generalized severe epidermolysis bullosa simplex.
Komori T et al.
The Journal of Dermatology, 2018
A comprehensive next-generation sequencing assay for the diagnosis of epidermolysis bullosa.
Lucky AW et al.
Pediatric Dermatology, 2018
A Review of 52 Pedigrees with Epidermolysis Bullosa Simplex Identifying Ten Novel Mutations in KRT5 and KRT14 in Australia.
Kim EN et al.
Acta Dermato-venereologica, 2017
Ten years of DNA diagnostics of epidermolysis bullosa in the Czech Republic.
Kopečková L et al.
The British Journal of Dermatology, 2016
The p.Glu477Lys Mutation in Keratin 5 Is Strongly Associated with Mortality in Generalized Severe Epidermolysis Bullosa Simplex.
Sathishkumar D et al.
The Journal of Investigative Dermatology, 2016
Collapse of the keratin filament network through the expression of mutant keratin 6c observed in a case of focal plantar keratoderma.
Kubo A et al.
The Journal of Dermatology, 2013
Verrucous carcinoma in epidermolysis bullosa simplex is possibly associated with a novel mutation in the keratin 5 gene.
Schumann H et al.
The British Journal of Dermatology, 2012
Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex.
García M et al.
The British Journal of Dermatology, 2011
Keratin mutations in patients with epidermolysis bullosa simplex: correlations between phenotype severity and disturbance of intermediate filament molecular structure.
Jerábková B et al.
The British Journal of Dermatology, 2010
Novel and recurrent mutations in Keratin 5 and 14 in Korean patients with Epidermolysis bullosa simplex.
Kang TW et al.
Journal of Dermatological Science, 2010
Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases.
Yasukawa K et al.
The British Journal of Dermatology, 2006
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
Epidermolysis bullosa simplex: recurrent and de novo mutations in the KRT5 and KRT14 genes, phenotype/genotype correlations, and implications for genetic counseling and prenatal diagnosis.
Pfendner EG et al.
The Journal of Investigative Dermatology, 2005
Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk.
Pfendner EG et al.
Prenatal Diagnosis, 2003
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
Expression of a truncated keratin 5 may contribute to severe palmar--plantar hyperkeratosis in epidermolysis bullosa simplex patients.
Livingston RJ et al.
The Journal of Investigative Dermatology, 2001
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
A premature stop codon mutation in the 2B helix termination peptide of keratin 5 in a German epidermolysis bullosa simplex Dowling-Meara case.
Müller FB 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
[Epidermolysis bullosa hereditaria syndrome].
Wiedemann HR et al.
Die Medizinische Welt, 1980
A neonatal case of epidermolysis bullosa complicated by bronchomalacia.
Kimura T et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 0