Associated Papers
KRT5 missense variant in a Cardigan Welsh Corgi with epidermolysis bullosa simplex.
Kiener S et al.
Animal Genetics, 2022
36004757 (PubMed )
Supplement: AGE-53-892-s002.xlsx › priv.prot.changing_variants_het
A de novo mutation in KRT5 in a crossbred calf with epidermolysis bullosa simplex.
Jacinto JGP et al.
Journal of Veterinary Internal Medicine, 2020
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
Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients.
Bolling MC et al.
The British Journal of Dermatology, 2011
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
Mutations in a keratin 6 isomer (K6c) cause a type of focal palmoplantar keratoderma.
Bowden PE
The Journal of Investigative Dermatology, 2010
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
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
A novel keratin 5 mutation (K5V186L) in a family with EBS-K: a conservative substitution can lead to development of different disease phenotypes.
Liovic M et al.
The Journal of Investigative Dermatology, 2001
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