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Mutation screening of the DNAJC7 gene in Japanese patients with sporadic amyotrophic lateral sclerosis.
Tohnai, Genki; Nakamura, Ryoichi; Atsuta, Naoki; Nakatochi, Masahiro; Hayashi, Naoki; Ito, Daisuke; Watanabe, Hazuki; Watanabe, Hirohisa; Katsuno, Masahisa; Izumi, Yuishin; Taniguchi, Akira; Kanai, Kazuaki; Morita, Mitsuya; Kano, Osamu; Kuwabara, Satoshi; Oda, Masaya; Abe, Koji; Aoki, Masashi; Aiba, Ikuko; Okamoto, Koichi; Mizoguchi, Kouichi; Ishihara, Tomohiko; Kawata, Akihiro; Yokota, Takanori; Hasegawa, Kazuko; Nagano, Isao; Yabe, Ichiro; Tanaka, Fumiaki; Kuru, Satoshi; Hattori, Nobutaka; Nakashima, Kenji; Kaji, Ryuji; Sobue, Gen.
Afiliación
  • Tohnai G; Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan; Aichi Medical University, Nagakute, Japan.
  • Nakamura R; Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan; Aichi Medical University, Nagakute, Japan.
  • Atsuta N; Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan; Aichi Medical University, Nagakute, Japan.
  • Nakatochi M; Public Health Informatics Unit, Department of Integrated Health Sciences, Nagoya University Graduate School of Medicine.
  • Hayashi N; Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan; Department of Neurology, Kariya Toyota General Hospital, kariya, Japan.
  • Ito D; Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
  • Watanabe H; Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan; Department of Neurology, Japanese Red Cross Nagoya Daiichi Hospital, Nagoya, Japan.
  • Watanabe H; Brain and Mind Research Center, Nagoya University, Nagoya, Japan; Department of Neurology, Fujita Health University, Toyoake, Japan.
  • Katsuno M; Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
  • Izumi Y; Department of Neurology, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan.
  • Taniguchi A; Department of Neurology, Mie University Graduate School of Medicine, Tsu, Japan.
  • Kanai K; Department of Neurology, Juntendo University Graduate School of Medicine, Tokyo, Japan; Department of Neurology, Fukushima Medical University School of Medicine, Fukushima, Japan.
  • Morita M; Division of Neurology, Department of Internal Medicine, Jichi Medical University, Shimotsuke, Japan.
  • Kano O; Division of Neurology, Department of Internal Medicine, Toho University Faculty of Medicine, Tokyo, Japan.
  • Kuwabara S; Department of Neurology, Graduate School of Medicine, Chiba University, Chiba, Japan.
  • Oda M; Department of Neurology, Vihara Hananosato Hospital, Miyoshi, Japan.
  • Abe K; Department of Neurology, Okayama University Graduate School of Medicine, Okayama, Japan.
  • Aoki M; Department of Neurology, Tohoku University School of Medicine, Sendai, Japan.
  • Aiba I; Department of Neurology, National Hospital Organization Higashinagoya National Hospital, Nagoya, Japan.
  • Okamoto K; Department of Neurology, Geriatrics Research Institute and Hospital, Maebashi, Japan.
  • Mizoguchi K; Department of Neurology, National Hospital Organization Shizuoka Medical Center, Shizuoka, Japan.
  • Ishihara T; Department of Neurology, Brain Research Institute, Niigata University, Niigata, Japan.
  • Kawata A; Department of Neurology, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan.
  • Yokota T; Department of Neurology and Neurological Science, Tokyo Medical and Dental University, Tokyo, Japan.
  • Hasegawa K; Division of Neurology, Sagamihara National Hospital, Sagamihara, Japan.
  • Nagano I; Department of Neurology, National Hospital Organization Miyagi National Hospital, Watari-gun, Japan.
  • Yabe I; Department of Neurology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.
  • Tanaka F; Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Kuru S; Department of Neurology, National Hospital Organization Suzuka National Hospital, Mie, Japan.
  • Hattori N; Department of Neurology, Juntendo University Graduate School of Medicine, Tokyo, Japan.
  • Nakashima K; Department of Neurology, National Hospital Organization, Matsue Medical Center, Matsue, Japan.
  • Kaji R; Department of Neurology, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan.
  • Sobue G; Aichi Medical University, Nagakute, Japan; Brain and Mind Research Center, Nagoya University, Nagoya, Japan. Electronic address: sobueg@aichi-med-u.ac.jp.
Neurobiol Aging ; 113: 131-136, 2022 05.
Article en En | MEDLINE | ID: mdl-35039179
DNAJC7 has recently been identified as an amyotrophic lateral sclerosis (ALS) gene via large-scale exome analysis, and its involvement in ALS is still unclear in various populations. This study aimed to determine the frequencies and characteristics of the DNAJC7 variants in a Japanese ALS cohort. A total of 807 unrelated Japanese patients with sporadic ALS were screened via exome analysis. In total, we detected six rare missense variants and one splice-site variant of the DNAJC7 gene, which are not reported in the Japanese public database. Furthermore, the missense variants are located around the TPR domain, which is important for the function of DNAJC7. The total frequency of the DNAJC7 variants in Japanese ALS patients was estimated at 0.87%. Collectively, these results suggest that variants of DNAJC7 are rare cause of Japanese patients with sporadic ALS.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Esclerosis Amiotrófica Lateral Tipo de estudio: Diagnostic_studies / Prognostic_studies / Screening_studies Límite: Humans País/Región como asunto: Asia Idioma: En Revista: Neurobiol Aging Año: 2022 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Esclerosis Amiotrófica Lateral Tipo de estudio: Diagnostic_studies / Prognostic_studies / Screening_studies Límite: Humans País/Región como asunto: Asia Idioma: En Revista: Neurobiol Aging Año: 2022 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Estados Unidos