Takuji Masunaga

Summary

Affiliation: Keio University
Country: Japan

Publications

  1. ncbi 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
  2. ncbi The G2028R glycine substitution mutation in COL7A1 leads to marked inter-familiar clinical heterogeneity in dominant dystrophic epidermolysis bullosa
    Hiroyuki 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
  3. doi Genotype-phenotype correlations in six Japanese patients with recessive dystrophic epidermolysis bullosa with the recurrent p.Glu2857X mutation
    Masataka Saito
    Department of Dermatology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku ku, Tokyo, Japan
    J Dermatol Sci 52:13-20. 2008
  4. ncbi 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
  5. ncbi Differences in recurrent COL7A1 mutations in dystrophic epidermolysis bullosa: ethnic-specific and worldwide recurrent mutations
    Takayuki Murata
    Department of Dermatology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku, 160 8582 Tokyo, Japan
    Arch Dermatol Res 295:442-7. 2004

Detail Information

Publications5

  1. ncbi 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...
  2. ncbi The G2028R glycine substitution mutation in COL7A1 leads to marked inter-familiar clinical heterogeneity in dominant dystrophic epidermolysis bullosa
    Hiroyuki 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
    ....
  3. doi Genotype-phenotype correlations in six Japanese patients with recessive dystrophic epidermolysis bullosa with the recurrent p.Glu2857X mutation
    Masataka 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...
  4. ncbi 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...
  5. ncbi Differences in recurrent COL7A1 mutations in dystrophic epidermolysis bullosa: ethnic-specific and worldwide recurrent mutations
    Takayuki 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...