Associated Papers
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
Keratin-associated epidermolysis bullosa simplex: phenotypes and challenges in clinical trials - a narrative review and systematic update.
Wally V et al.
Orphanet Journal of Rare Diseases, 2025
AlPaCas: allele-specific CRISPR gene editing through a protospacer-adjacent-motif (PAM) approach.
Rosignoli S et al.
Nucleic Acids Research, 2024
EBS in Children with De Novo Pathogenic Variants Disturbing Krt14.
Kosykh AV et al.
International Journal of Molecular Sciences, 2024
Phenotype and genotype correlation of inherited epidermolysis bullosa in Indonesia.
Arline Diana I et al.
The Australasian Journal of Dermatology, 2023
Targeted NGS in Diagnostics of Genodermatosis Characterized by the Epidermolysis Bullosa Symptom Complex in 268 Russian Children.
Savostyanov K et al.
International Journal of Molecular Sciences, 2022
Epidermolysis Bullosa-A Different Genetic Approach in Correlation with Genetic Heterogeneity.
Pânzaru MC et al.
Diagnostics (basel, Switzerland), 2022
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
Ten years of DNA diagnostics of epidermolysis bullosa in the Czech Republic.
Kopečková L et al.
The British Journal of Dermatology, 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
Current approaches to the diagnosis and treatment of white sponge nevus.
Cai W et al.
Expert Reviews in Molecular Medicine, 2015
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
Consequences of two different amino-acid substitutions at the same codon in KRT14 indicate definitive roles of structural distortion in epidermolysis bullosa simplex pathogenesis.
Natsuga K et al.
The Journal of Investigative Dermatology, 2011
The yin and the yang of keratin amino acid substitutions and epidermolysis bullosa simplex.
Murrell DF et al.
The Journal of Investigative Dermatology, 2011
Epidermolysis bullosa simplex with mottled pigmentation: a novel KRT14 mutation.
Gray C et al.
Journal of Drugs in Dermatology : Jdd, 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
Dyskeratosis as a histologic feature in epidermolysis bullosa simplex-Dowling Meara.
Bergman R et al.
Journal of the American Academy of Dermatology, 2007
Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases.
Yasukawa K et al.
The British Journal of Dermatology, 2006
Epidermolysis bullosa simplex with mottled pigmentation resulting from a recurrent mutation in KRT14.
Harel A et al.
The Journal of Investigative 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
The molecular genetics of keratin disorders.
Smith F
American Journal of Clinical Dermatology, 2003
Keratin 14 point mutations at codon 119 of helix 1A resulting in different epidermolysis bullosa simplex phenotypes.
Cummins RE et al.
The Journal of Investigative Dermatology, 2001
Identification of two novel mutations in keratin 13 as the cause of white sponge naevus.
Rugg E et al.
Oral Diseases, 1999
Severe palmo-plantar hyperkeratosis in Dowling-Meara epidermolysis bullosa simplex caused by a mutation in the keratin 14 gene (KRT14).
Shemanko CS et al.
The Journal of Investigative Dermatology, 1998
Epidermolysis bullosa simplex with mottled pigmentation: a family report and review.
Echeverría-García B et al.
Pediatric Dermatology, 0