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Department of Dermatology, Keio University | 論文

• The G2028R glycine substitution mutation in COL7A1 leads to marked inter-familiar clinical heterogeneity in dominant dystrophic epidermolysis bullosa
• Pretibial dystrophic epidermolysis bullosa with localized cutaneous amyloidosis : Coincidental or secondary amyloidosis?
• Genotype-phenotype correlations in six Japanese patients with recessive dystrophic epidermolysis bullosa with the recurrent p.Glu2857X mutation
• Removal of amino-terminal extracellular domains of desmoglein 1 by staphylococcal exfoliative toxin is sufficient to initiate epidermal blister formation
• Subcellular localization of desmosomal components is different between desmoglein3 knockout mice and pemphigus vulgaris model mice
• Desmosome splitting is a primary ultrastructural change in the acantholysis of pemphigus

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