Rchr
J-GLOBAL ID:201101090147341500   Update date: Mar. 29, 2024

Mutai Hideki

務台 英樹 | Mutai Hideki
Research field  (4): Cell biology ,  Genomics ,  Molecular biology ,  Otorhinolaryngology
Research theme for competitive and other funds  (11):
  • 2021 - 2024 Identification of CNV of deafness gene and development of simple test method by long read sequencing
  • 2021 - 2024 新規難聴原因遺伝子SLC12A2の分子病態解析と治療標的の探索
  • 2021 - 2024 KCNQ4関連遺伝性難聴の病態における細胞死の寄与を示す動物モデルと治療薬剤開発
  • 2018 - 2021 Molecular, Cellular, and in vivo analysis of SLC12A2, a novel candidate of deafness gene
  • 2018 - 2020 Elucidation of prevalence, clinical features and pathogenic mechanism of PDZD7 mutations which was identified as a novel gene causing nonsyndromic hearing loss
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Papers (68):
  • Naoki Oishi, Masaru Noguchi, Masato Fujioka, Kiyomitsu Nara, Koichiro Wasano, Hideki Mutai, Rie Kawakita, Ryota Tamura, Kosuke Karatsu, Yukina Morimoto, et al. Correlation between genotype and phenotype with special attention to hearing in 14 Japanese cases of NF2-related schwannomatosis. Scientific reports. 2023. 13. 1. 6595-6595
  • Keisuke Yoshihama, Hideki Mutai, Mariko Sekimizu, Fumihiro Ito, Shin Saito, Shintaro Nakamura, Takuya Mikoshiba, Ryoto Nagai, Akiko Takebayashi, Fuyuki Miya, et al. Molecular basis of carotid body tumor and associated clinical features in Japan identified by genomic, immunohistochemical, and clinical analyses. Clinical genetics. 2023. 103. 4. 466-471
  • Nobuyoshi Tsuzuki, Kazunori Namba, Chika Saegusa, Hideki Mutai, Takanori Nishiyama, Naoki Oishi, Tatsuo Matsunaga, Masato Fujioka, Hiroyuki Ozawa. Apoptosis of type I spiral ganglion neuron cells in Otof-mutant mice. Neuroscience letters. 2023. 803. 137178-137178
  • Hideki Mutai, Yukihide Momozawa, Yoichiro Kamatani, Atsuko Nakano, Hirokazu Sakamoto, Tetsuya Takiguchi, Kiyomitsu Nara, Michiaki Kubo, Tatsuo Matsunaga. Whole exome analysis of patients in Japan with hearing loss reveals high heterogeneity among responsible and novel candidate genes. Orphanet journal of rare diseases. 2022. 17. 1. 114-114
  • Masatsugu Masuda, Ayako Kanno, Kiyomitsu Nara, Hideki Mutai, Naoya Morisada, Kazumoto Iijima, Noriko Morimoto, Atsuko Nakano, Tomoko Sugiuchi, Yasuhide Okamoto, et al. Phenotype-genotype correlation in patients with typical and atypical branchio-oto-renal syndrome. Scientific reports. 2022. 12. 1. 969-969
more...
MISC (39):
  • 難波 一徳, 務台 英樹, 松永 達雄. 難聴モデルOtof欠損マウスのらせん神経節細胞の神経栄養因子の減少を伴うアポトーシス. Otology Japan. 2017. 27. 4. 541-541
  • 山澤一樹, 山澤一樹, 山澤一樹, 山田洋平, 務台英樹, 松永達雄, 松永達雄, 込山修, 高橋孝雄. 2回の重篤な出血のエピソードを認め,エクソーム解析によって診断されたヌーナン症候群の一例. 日本小児遺伝学会学術集会プログラム・抄録集. 2016. 39th
  • 増田 正次, 務台 英樹, 有本 友季子, 仲野 敦子, 甲能 直幸, 松永 達雄. COCHフレームシフト変異の分子病態と遺伝子診断に関する考察. Otology Japan. 2014. 24. 4. 477-477
  • 務台 英樹, 藤井 正人, 松永 達雄. DBA/2Jマウスの難聴進行を抑制したエピジェネティクス調節剤の分子機構解析. Otology Japan. 2014. 24. 4. 538-538
  • 務台 英樹, 難波 一徳, 加我 君孝, 松永 達雄. 孤発例の先天性難聴患者における稀少難聴遺伝子変異の同定. Otology Japan. 2013. 23. 4. 596-596
more...
Work history (1):
  • 2024/01 - Kitasato University School of Medicine Molecualr Genetics Lecturer
Association Membership(s) (5):
THE MOLECULAR BIOLOGY SOCIETY OF JAPAN ,  The Association for Research in Otolaryngology ,  OTOLOGICAL SOCIETY OF JAPAN ,  日本人類遺伝学会 ,  日本聴覚医学会
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