Associated Papers
Genetic profiling of epidermolysis bullosa in a large Brazilian cohort.
Ota VK et al.
Clinical and Experimental Dermatology, 2025
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
A comprehensive next-generation sequencing assay for the diagnosis of epidermolysis bullosa.
Unknown Author
Pediatric Dermatology, 2018
A comprehensive next-generation sequencing assay for the diagnosis of epidermolysis bullosa.
Lucky AW et al.
Pediatric Dermatology, 2018
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt
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 in Japanese and Korean patients: genetic studies in 19 cases.
Yasukawa K et al.
The British Journal of 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
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
Select a paper to view details