Yamada Kenichiro

Research theme for competitive and other funds (10)：

2019 - 2023 巨大結腸症を呈するモワット・ウィルソン症候群類似疾患の新規病因遺伝子の同定
2017 - 2020 Search for the therapeutic methods for SLC19A3 deficiency using disease model mice.
2013 - 2016 Clinical and genetic characterization of patients with intellectual disability caused by chromosome structural abnormalities.
2009 - 2012 The pathogenic mechanisms of severe intellectual disabiIity caused by PLEKHA5 or SLC19A3 mutations studied using mouse models of the diseases.
2006 - 2009 Molecular and biochemical analysis of the severe mental retardation caused by PLEKHA5 or SLC19A3 mutations.

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Papers (38)：

Daisuke Fukushi, Mie Inaba, Kimiko Katoh, Yasuyo Suzuki, Yasushi Enokido, Noriko Nomura, Yoshihito Tokita, Shin Hayashi, Seiji Mizuno, Kenichiro Yamada, et al. R3HDM1 haploinsufficiency is associated with mild intellectual disability. American Journal of Medical Genetics Part A. 2021
Kimiko Katoh, Kaori Aiba, Daisuke Fukushi, Jun Yoshimura, Yasuyo Suzuki, Jun Mitsui, Shinichi Morishita, Shoji Tuji, Kenichiro Yamada, Nobuaki Wakamatsu. Clinical and molecular genetic characterization of two female patients harboring the Xq27.3q28 deletion with different ratios of X chromosome inactivation. Human mutation. 2020. 41. 8. 1447-1460
Keiko Nakanishi, Hiroyuki Niida, Hidenori Tabata, Tsuyoshi Ito, Yuki Hori, Madoka Hattori, Yoshikazu Johmura, Chisato Yamada, Takashi Ueda, Kosei Takeuchi, et al. Isozyme-Specific Role of SAD-A in Neuronal Migration During Development of Cerebral Cortex. Cerebral cortex (New York, N.Y. : 1991). 2019. 29. 9. 3738-3751
Daisuke Fukushi, Kenichiro Yamada, Kaoru Suzuki, Mie Inaba, Noriko Nomura, Yasuyo Suzuki, Kimiko Katoh, Seiji Mizuno, Nobuaki Wakamatsu. Clinical and genetic characterization of a patient with SOX5 haploinsufficiency caused by a de novo balanced reciprocal translocation. Gene. 2018. 655. 65-70
Daisuke Fukushi, Kenji Kurosawa, Yasuyo Suzuki, Kaoru Suzuki, Kenichiro Yamada, Seiji Watanabe, Kenji Yokochi, Nobuaki Wakamatsu. Clinical and molecular genetic characterization of two siblings with trisomy 2p24.3-pter and monosomy 5p14.3-pter. AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2017. 173. 8. 2201-2209

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MISC (14)：

山田憲一郎, 相場佳織, 北浦靖之, 近藤雄介, 野村紀子, 中村勇治, 福士大輔, 村山圭, 下村吉治, Pitt James, et al. ヒトECHS1の生化学的解析と軽症型ECHS1欠損症の病態解明. 日本生化学会大会・日本分子生物学会年会合同大会講演要旨集. 2015. 88回・38回. [4T特-01(3P1177)]
若松延昭, 山田憲一郎, 北浦靖之, 近藤雄介, 野村紀子, 村山圭, 山口清次, 下村吉治, 横地健治, ピット・ジェームス. 軽症Short-chain enoyl-CoA hydratase(ECHS1)欠損症の生化学的解析診断に有効な化合物の同定. 日本先天代謝異常学会雑誌. 2015. 31. 128-128
山田憲一郎, 内木美紗子, 星野伸, 北浦靖之, 近藤雄介, 下澤伸行, 山口清次, 下村吉治, 三浦清邦, 若松延昭. HIBCH欠損症の同定と変異タンパク質の生化学的解析. 日本先天代謝異常学会雑誌. 2014. 30. 168-168
山田憲一郎, 内木美紗子, 星野伸, 北浦靖之, 近藤雄介, 野村紀子, 木村礼子, 福士大輔, 山田裕一, 下澤伸行, et al. HIBCH(3-Hydroxyisobutyryl-CoA hydrolase)欠損症の同定と変異タンパク質の生化学的解析. 日本生化学会大会プログラム・講演要旨集. 2014. 87回. [4T15p-03]
山田裕一, 山田憲一郎, 福原弥生, 木村礼子, 福士大輔, 水野誠司, 黒澤健司, 岡本伸彦, 若松延昭. Mowat-Wilson症候群の原因となる新たなZEB2遺伝子変異. 日本生化学会大会プログラム・講演要旨集. 2012. 85回. 3P-930

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