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  1. Article

    Open Access

    Association of HLA class I and II gene polymorphisms with acetaminophen-related Stevens–Johnson syndrome with severe ocular complications in Japanese individuals

    Stevens–Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are acute-onset mucocutaneous diseases induced by infectious agents and/or inciting drugs. We have reported that the main causative drugs for...

    Mayumi Ueta, Ryosuke Nakamura, Yoshiro Saito, Katsushi Tokunaga in Human Genome Variation (2019)

  2. Article

    Open Access

    A novel mutation in gelatinous drop-like corneal dystrophy and functional analysis

    We identified a novel mutation of the tumor-associated calcium signal transducer 2 (TACSTD2) gene in a Japanese patient with gelatinous drop-like corneal dystrophy (GDLD). Genetic analysis revealed a novel homozy...

    Yukiko Nagahara, Motokazu Tsujikawa, Toru Takigawa, Peng Xu in Human Genome Variation (2019)

  3. Article

    Open Access

    Novel TACSTD2 mutation in gelatinous drop-like corneal dystrophy

    We identified a novel mutation in the tumor-associated calcium signal transducer 2 (TACSTD2) gene in a consanguineous Thai family with gelatinous drop-like corneal dystrophy (GDLD). All affected family members pr...

    Passara Jongkhajornpong, Kaevalin Lekhanont, Mayumi Ueta in Human Genome Variation (2015)

  4. Article

    Open Access

    HLA-A*02:06 and PTGER3 polymorphism exert additive effects in cold medicine-related Stevens–Johnson syndrome with severe ocular complications

    We previously reported that PTGER3 (prostaglandin E receptor 3 (subtype EP3)) single-nucleotide polymorphisms (SNPs) were associated with Stevens–Johnson syndrome (SJS)/toxic epidermal necrolysis (TEN) with sever...

    Mayumi Ueta, Katsushi Tokunaga, Chie Sotozono, Hiromi Sawai in Human Genome Variation (2015)