Associated Papers
Acral peeling skin syndrome with TGM5 gene mutations may resemble epidermolysis bullosa simplex in young individuals.
Kiritsi D et al.
The Journal of Investigative Dermatology, 2010
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
The ubiquitin ligase CHIP/STUB1 targets mutant keratins for degradation.
Löffek S et al.
Human Mutation, 2010
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
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
Functional testing of keratin 14 mutant proteins associated with the three major subtypes of epidermolysis bullosa simplex.
Sørensen CB et al.
Experimental Dermatology, 2003
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
[Epidermolysis bullosa simplex: genotype-phenotype correlation in Danish patients].
Sørensen CB et al.
Ugeskrift for Laeger, 2000
Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.
Sørensen CB et al.
The Journal of Investigative Dermatology, 1999
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