千代延 友裕講師

専門領域 小児神経学／臨床遺伝学
学会認定医
  • 小児科専門医・指導医
  • 小児神経専門医
  • てんかん専門医・指導医
  • 臨床遺伝専門医・指導医

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経歴

  • 平成10年3月

    京都府立医科大学卒業

  • 平成10年5月

    京都府立医科大学附属病院研修医

  • 平成10年11月

    大津市民病院小児科

  • 平成12年4月

    松下記念病院小児科

  • 平成18年3月

    京都府立医科大学大学院修了

  • 平成18年4月

    明石市立市民病院小児科

  • 平成21年4月

    京都府立医科大学小児科助教

  • 平成28年4月

    京都府立医科大学附属北部医療センター小児科医長

  • 平成29年4月

    京都府立医科大学小児科学内講師

  • 令和3年4月

    京都府立医科大学附属病院遺伝相談室室長（兼任）

  • 令和3年11月

    京都府立医科大学附属病院遺伝子診療部/大学院医学研究科分子診断・治療医学講師　現在に至る

学会役員歴

  • 日本小児神経学会評議員・教育委員会委員・国際化推進委員会委員・Brain＆Development編集委員会委員
  • 日本てんかん学会評議員
  • 日本人類遺伝学会評議員

所属学会

  • 日本小児科学会
  • 日本小児神経学会
  • 日本小児遺伝学会
  • 日本てんかん学会
  • 日本人類遺伝学会
  • 日本遺伝カウンセリング学会
  • 日本遺伝子診療学会
  • 日本遺伝性腫瘍学会
  • アジア・大洋州小児神経学会(AOCNA)

研究内容

  1. 発達性てんかん性脳症の分子病態解析

  2. ショウジョウバエモデルを用いた神経発達症の治療探索

代表的論文

  1. Matsuoka T, Yoshida H, Kasai T, Tozawa T, Iehara T, Chiyonobu T. a-Synuclein pathology in Drosophila melanogaster is exacerbated by haploinsufficiency of Rop: Connecting STXBP1 encephalopathy with a-synucleinopathies. Hum Mol Genet, in press.

  2. Yamaguchi M, Huynh MA, Chiyonobu T, Yoshida H. Knockdown of Chronophage in the nervous system mimics features of neurodevelopmental disorders caused by BCL11A/B variants. Exp Cell Res 433: 113827, 2023

  3. Mori J, Umemura A, Satake W, Cha PC, Suzuki Y, Itoh K, Chiyonobu T. TUBB3 E410K syndrome with childhood-onset nonalcoholic steatohepatitis. J Clin Endocrinol Metab 107: e38-e43, 2022

  4. Ichise E, Chiyonobu T, Ishikawa M, Tanaka Y, Shibata M, Tozawa T, Taura Y, Yamashita S, Yoshida M, Morimoto M, Higurashi N, Yamamoto T, Okano H, Hirose S. Impaired neuronal activity and differential gene expression in STXBP1 encephalopathy patient iPSC-derived GABAergic neurons. Hum Mol Genet, 30: 1337-1348, 2021.

  5. Takai A, Chiyonobu T, Ueoka I, Tanaka R, Tozawa T, Yoshida H, Morimoto M, Hosoi H, Yamaguchi M. A novel Drosophila model for neurodevelopmental disorders associated with Shwachman-Diamond syndrome. Neurosci Lett 739: 135449, 2020.

  6. Hirose S, Tanaka Y, Shibata M, Kimura Y, Ishikawa M, Higurashi N, Yamamoto T, Ichise E, Chiyonobu T, Ishii A. Application of induced pluripotent stem cells in epilepsy. Mol Cell Neurosci 108: 103535, 2020.

  7. Takai A, Yamaguchi M, Yoshida H, Chiyonobu T. Investigating developmental and epileptic encephalopathy using Drosophila melanogaster. Int J Mol Sci 21: 6442, 2020.

  8. Tozawa T, Kasai T, Tatebe H, Shiomi K, Nishio H, Tokuda T, Chiyonobu T. Intrathecal nusinersen treatment after ventriculo-peritoneal shunt placement: A case report focusing on the neurofilament light chain in cerebrospinal fluid. Brain Dev 42: 311-314, 2020.

  9. Yoshida M, Nakashima M, Okanishi T, Kanai S, Fujimoto A, Itomi K, Morimoto M, Saitsu H, Kato M, Matsumoto N, Chiyonobu T. Identification of novel BCL11A variants in patients with epileptic encephalopathy: Expanding the phenotypic spectrum. Clin Genet 93: 368-373, 2018.

  10. Zuiki M, Chiyonobu T, Yoshida M, Maeda H, Yamashita S, Kidowaki S, Hasegawa T, Gotoh H, Nomura T, Ono K, Hosoi H, Morimoto M. Luteolin attenuates interleukin-6-mediated astrogliosis in human iPSC-derived neural aggregates: A candidate preventive substance for maternal immune activation-induced abnormalities. Neurosci Lett 653: 296-301, 2017.

  11. Yamashita S, Chiyonobu T, Yoshida M, Maeda H, Zuiki M, Kidowaki S, Isoda K, Morimoto M, Kato M, Saitsu H, Matsumoto N, Nakahata T, Saito MK, Hosoi H. Mislocalization of syntaxin-1 and impaired neurite growth observed in a human iPSC model for STXBP1-related epileptic encephalopathy. Epilepsia 57: e81-6, 2016.

  12. Maeda H, Chiyonobu T, Yoshida M, Yamashita S, Zuiki M, Kidowaki S, Isoda K, Yamakawa K, Morimoto M, Nakahata T, Saito MK, Hosoi H. Establishment of isogenic iPSCs from an individual with SCN1A mutation mosaicism as a model for investigating neurocognitive impairment in Dravet syndrome. J Hum Genet 61: 565-9, 2016.

  13. Chiyonobu T, Inoue N, Morimoto M, Kinoshita T, Murakami Y. Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome. J Med Genet 51 : 203-7, 2014.

  14. Kanagawa M, Nishimoto A, Chiyonobu T, Takeda S, Miyagoe-Suzuki Y, Wang F, Fujikake N, Taniguchi M, Lu Z, Tachikawa M, Nagai Y, Tashiro F, Miyazaki J, Tajima Y, Takeda S, Endo T, Kobayashi K, Campbell KP, Toda T. Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model　mice to dystroglycanopathy. Hum Mol Genet 18 : 621-631, 2009.

  15. Fukuda T, Kohda M, Kanomata K, Nojima J, Nakamura A, Kamizono J, Noguchi Y, Iwakiri K, Kondo T, Kurose J, Endo K, Awakura T, Fukushi J, Nakajima Y, Chiyonobu T, Kawara A, Nishida Y, Wada I, Akita M, Komori T, Nakayama K, Nanba A, Maruki Y, Yoda T, Tomoda H, Yu PB, Shore EM, Kaplan FS, Miyazono K, Matsuoka M, Ikebuchi K, Ohtake A, Oda H, Jimi E, Owan I, Okazaki Y, Katagiri T. Constitutively activated ALK2 and increased Smad1/5 cooperatively induce BMP signaling in fibrodysplasia ossificans progressiva. J Biol Chem 284: 7149-7156, 2009.

  16. Chiyonobu T, Hayashi S, Kobayashi K, Morimoto M, Miyanomae Y, Nishimura A, Nishimoto A, Ito C, Imoto I, Sugimoto T, Jia Z, Inazawa J, Toda T. Partial tandem duplication of GRIA3 in a male with mental retardation. Am J Med Genet 143A: 1448-1455, 2007.

  17. Morimoto M, Mazaki E, Nishimura A, Chiyonobu T, Sawai Y, Murakami A, Nakamura K, Inoue I, Ogiwara I, Sugimoto T, Yamakawa K. SCN1A mutation mosaicism in a family with severe myoclonic epilepsy in infancy. Epilepsia 47 : 1732-1736, 2006.

  18. Xiong H, Kobayashi K, Tachikawa M, Manya H, Takeda S, Chiyonobu T, Fujikake N, Wan F, Nishimoto A, Morris GE, Nagai Y, Kanagawa M, Endo T, Toda T. Molecular interaction between fukutin and POMGnT1 in the glycosylation pathway of α-dystroglycan. Biochem Biophys Res Commun 350 : 935-941, 2006.

  19. Chiyonobu T, Sasaki J, Nagai Y, Takeda S, Funakoshi H, Nakamura T, Sugimoto T, Toda T. Effects of fukutin deficiency in the developing mouse brain. Neuromuscul Disord 15 : 416-426, 2005.

  20. Chiyonobu T, Yoshihara T, Fukushima Y, Yamamoto Y, Tsunamoto K, Nishimura Y, Ishida H, Toda T, Kasubuchi Y. Sister and Brother with Vici Syndrome: Agenesis of the Corpus Callosum, Albinism, and Recurrent Infections. Am J Med Genet 109 : 61-66, 2002.