Affiliation: Keio University
- Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel 594insC/Q425P mutations in integrin beta4 gene (ITGB4)Takuji Masunaga
Department of Dermatology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku ku, Tokyo 160 8582, Japan
Exp Dermatol 13:61-4. 2004..Our results contribute to further the accumulation of mutation data for better understanding of the genotype/phenotype correlation in PA-JEB, and may give profound insight into the role of integrins alpha6 and beta4...
- The G2028R glycine substitution mutation in COL7A1 leads to marked inter-familiar clinical heterogeneity in dominant dystrophic epidermolysis bullosaHiroyuki Nakamura
Department of Dermatology, Hokkaido University Graduate School of Medicine, North 15 West 7, Kita ku, Sapporo 060 8638, Japan
J Dermatol Sci 34:195-200. 2004....
- Genotype-phenotype correlations in six Japanese patients with recessive dystrophic epidermolysis bullosa with the recurrent p.Glu2857X mutationMasataka Saito
Department of Dermatology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku ku, Tokyo, Japan
J Dermatol Sci 52:13-20. 2008..General genotype-phenotype correlations have been delineated in recessive dystrophic epidermolysis bullosa (RDEB), but these remain complicated and it is still difficult to assess the clinical consequences of individual COL7A1 mutations...
- Does the position of the premature termination codon in COL7A1 correlate with the clinical severity in recessive dystrophic epidermolysis bullosa?Akira Ishiko
Department of Dermatology, Keio University School of Medicine, Tokyo, Japan
Exp Dermatol 13:229-33. 2004..Therefore, genotype-phenotype relationships in RDEB cannot be explained purely by the position of PTC...
- Differences in recurrent COL7A1 mutations in dystrophic epidermolysis bullosa: ethnic-specific and worldwide recurrent mutationsTakayuki Murata
Department of Dermatology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku, 160 8582 Tokyo, Japan
Arch Dermatol Res 295:442-7. 2004..In conclusion, our results further support the notion that recurrent mutations can be classified into two types, ethnic-specific mutation and worldwide mutation...
- Splicing abnormality of integrin β4 gene (ITGB4) due to nucleotide substitutions far from splice site underlies pyloric atresia-junctional epidermolysis bullosa syndromeTakuji Masunaga
Department of Dermatology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku ku, Tokyo 162 8582, Japan Research Laboratories, KOSE Corporation, 48 18, Sakae cho, Kita ku, Tokyo 114 0005, Japan Electronic address
J Dermatol Sci 78:61-6. 2015..PA-JEB is caused by mutation of ITGB4 or ITGA6, which encodes integrin β4 or α6, respectively...