Associated Papers
Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex.
Evtushenko NA et al.
International Journal of Molecular Sciences, 2021
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
An autocrine/paracrine loop linking keratin 14 aggregates to tumor necrosis factor alpha-mediated cytotoxicity in a keratinocyte model of epidermolysis bullosa simplex.
Yoneda K et al.
The Journal of Biological Chemistry, 2004
A novel nonsense mutation at E106 of the 2B rod domain of keratin 14 causes dominant epidermolysis bullosa simplex.
Gu LH et al.
The Journal of Dermatology, 2002
Epidermolysis bullosa simplex Dowling-Meara due to an arginine to cysteine substitution in exon 1 of keratin 14.
Premaratne C et al.
The Australasian Journal of Dermatology, 2002
Plasticin, a type III neuronal intermediate filament protein, assembles as an obligate heteropolymer: implications for axonal flexibility.
Asch WS et al.
Journal of Neurochemistry, 2000
Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation.
Irvine AD et al.
The British Journal of Dermatology, 1999
Human keratin diseases: hereditary fragility of specific epithelial tissues.
Corden LD et al.
Experimental Dermatology, 1996
Mutations in epidermolysis bullosa simplex.
Goldsmith LA
The Journal of Investigative Dermatology, 1995
A novel three-nucleotide deletion in the helix 2B region of keratin 14 in epidermolysis bullosa simplex: delta E375.
Chen MA et al.
Human Molecular Genetics, 1993
Disease severity correlates with position of keratin point mutations in patients with epidermolysis bullosa simplex.
Letai A et al.
Proceedings of the National Academy of Sciences of the United States of America, 1993
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