Associated Papers
Management of Refractory Infections in a Neonate With Severe Generalized Epidermolysis Bullosa Simplex: A Case Report.
Maekawa M et al.
Cureus, 2025
Genetic profiling of epidermolysis bullosa in a large Brazilian cohort.
Ota VK et al.
Clinical and Experimental Dermatology, 2025
Epidermolysis Bullosa Simplex with Mottled Pigmentation and Migratory Circinate Erythema: Distinct Subtypes or a Continuum?
Valinotto LE et al.
Acta Dermato-venereologica, 2025
Rare diseases load through the study of a regional population.
Michel É et al.
Plos Genetics, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Genetic testing results of retinal dystrophies in a diverse population: impact of race and ethnicity.
Miller C et al.
Ophthalmic Genetics, 2025
Epidermolysis Bullosa: Two rare case reports of COL7A1 and EBS-GEN SEV KRT14 variants with review of literature.
Ali FM et al.
Bmc Pediatrics, 2024
Exon 8 deletion of KRT5 in epidermolysis bullosa simplex with mottled pigmentation: A case report.
Cheng J et al.
The Journal of Dermatology, 2023
Molecular genetic basis of epidermolysis bullosa.
Kotalevskaya YY et al.
Vavilovskii Zhurnal Genetiki I Selektsii, 2023
Novel variants in LAMA3 and COL7A1 and recurrent variant in KRT5 underlying epidermolysis bullosa in five Chinese families.
Wang R et al.
Frontiers of Medicine, 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
Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex.
Evtushenko NA et al.
International Journal of Molecular Sciences, 2021
Genetic burden linked to founder effects in Saguenay-Lac-Saint-Jean illustrates the importance of genetic screening test availability.
Bchetnia M et al.
Journal of Medical Genetics, 2021
Epidermolysis Bullosa in Chinese Patients: Genetic Analysis and Mutation Landscape in 57 Pedigrees and Sporadic Cases.
Yu Y et al.
Acta Dermato-venereologica, 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
An overview of the genetic basis of epidermolysis bullosa in Brazil: discovery of novel and recurrent disease-causing variants.
Mariath LM et al.
Clinical Genetics, 2019
Natural course of epidermolysis bullosa simplex with mottled pigmentation in a Japanese family with the p.P25L mutation in KRT5.
Okamura K et al.
The Journal of Dermatology, 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
EB2017-Progress in Epidermolysis Bullosa Research toward Treatment and Cure.
Uitto J et al.
The Journal of Investigative Dermatology, 2018
Updated review of genetic reticulate pigmentary disorders.
Zhang J et al.
The British Journal of Dermatology, 2017
Distinct phenotype of epidermolysis bullosa simplex with infantile migratory circinate erythema due to frameshift mutations in the V2 domain of KRT5.
Kumagai Y et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2017
Clinical and Genetic Review of Hereditary Acral Reticulate Pigmentary Disorders.
Alshaikh H et al.
Dermatology Research and Practice, 2017
A novel KRT5 mutation associated with generalized severe epidermolysis bullosa simplex in a 2-year-old Chinese boy.
Zhang J et al.
Experimental and Therapeutic Medicine, 2016
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
Epidermolysis bullosa simplex with mottled pigmentation with noncicatricial alopecia: identification of a recurrent p.P25L mutation in KRT5 in four affected family members.
Nagai H et al.
The British Journal of Dermatology, 2016
Hereditary palmoplantar keratoderma "clinical and genetic differential diagnosis".
Sakiyama T et al.
The Journal of Dermatology, 2016
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
Heterozygous frameshift mutation in keratin 5 in a family with Galli-Galli disease.
Reisenauer AK et al.
The British Journal of Dermatology, 2014
Epidermolysis bullosa simplex with mottled pigmentation: the first Slovenian case.
Bergant Suhodolčan A et al.
Acta Dermatovenerologica Alpina, Pannonica, Et Adriatica, 2014
Mutational analysis on 16 Japanese population cases with epidermolysis bullosa simplex.
Minakawa S et al.
Journal of Dermatological Science, 2013
A novel heterozygous nonsense mutation of keratin 5 in a Chinese family with Dowling-Degos disease.
Guo L et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2012
Acromelanosis albo-punctata: a distinct inherited dermatosis with acral spotty dyspigmentation without systemic involvement.
Arnold AW et al.
Dermatology (basel, Switzerland), 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
Epidermolysis bullosa simplex with mottled pigmentation: a novel KRT14 mutation.
Gray C et al.
Journal of Drugs in Dermatology : Jdd, 2011
A transient epidermolysis bullosa simplex-like phenotype associated with bexarotene treatment in a G138E KRT5 heterozygote.
Trufant JW et al.
Journal of Cutaneous Pathology, 2010
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
A novel homozygous keratin 14 mutation in a patient with autosomal recessive epidermolysis bullosa simplex and squamous cell carcinoma of the tongue.
Baek JO et al.
The British Journal of Dermatology, 2010
Molecular testing in epidermolysis bullosa.
Castiglia D et al.
Dermatologic Clinics, 2010
One novel and two recurrent mutations in the keratin 5 gene identified in Chinese patients with epidermolysis bullosa simplex.
Tang HY et al.
Clinical and Experimental Dermatology, 2009
Cytokines as genetic modifiers in K5-/- mice and in human epidermolysis bullosa simplex.
Roth W et al.
Human Mutation, 2009
Basic science of epidermolysis bullosa and diagnostic and molecular characterization: Proceedings of the IInd International Symposium on Epidermolysis Bullosa, Santiago, Chile, 2005.
Pfendner EG et al.
International Journal of Dermatology, 2007
Epidermolysis bullosa simplex in Scotland caused by a spectrum of keratin mutations.
Rugg EL et al.
The Journal of Investigative Dermatology, 2007
A heterozygous frameshift mutation in the V1 domain of keratin 5 in a family with Dowling-Degos disease.
Liao H et al.
The Journal of Investigative Dermatology, 2007