Fukushi Daisuke

フクシダイスケ | Fukushi Daisuke

Affiliation and department：

Research field (2)： Medical biochemistry , Genetics

Research keywords (2)：先天性疾患 , 分子細胞遺伝学

Research theme for competitive and other funds (7)：

2022 - 2025 R3HDM1欠損症の発症機序として見出した遺伝子・マイクロRNA不均衡仮説の検証
2019 - 2022 軽度知的障害が見られるR3HDM1欠損症の脳病態の解明
2014 - 2017 Identification of the genes associated with spina bifida harboring intellectual disability
2013 - 2016 Clinical and genetic characterization of patients with intellectual disability caused by chromosome structural abnormalities.
2008 - 2009 染色体サイクルに異常のみられる原因不明の知的障害の病因解明

Show all

Papers (28)：

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. 185. 6. 1776-1786
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
Satoru Iwata, Hitomi Nakadai, Daisuke Fukushi, Mami Jose, Miki Nagahara, Takashi Iwamoto. Simple and large-scale chromosomal engineering of mouse zygotes via in vitro and in vivo electroporation. Scientific reports. 2019. 9. 1. 14713-14713
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

ｍore...

MISC (13)：

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)]
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
笠井文生, 福士大輔, 渡辺直樹, 春田雅之, 金子安比古. 乳児と小児2倍体神経芽腫の特徴中心体の増幅と異数性細胞の混在(Characteristics of diploid neuroblastoma: occurrence of centrosome amplification and coexistence of polyploid cells). 日本癌学会総会記事. 2008. 67回. 156-157
FUKUSHI Daisuke, HOSHI Osamu, USHIKI Tatsuo. O-27. Analysis of the ultrastructure of human chromosomes during cell division by atomic force microscopy (AFM)(Abstracts of the oral and poster presentations, Abstract of the 56th Annual Meeting of The Society of Chromosome Research) :. Chromosome science. 2006. 9. 1. 23-23

ｍore...

Books (4)：

Aneuploidy and intellectual disability. Aneuploidy in health and disease, Zuzana Storchova ed. pp 107-122
InTech-Open Access Publisher 2012
Atomic force microscopy of human chromosomes in relation to their high-order structure. In: Fukui K, Ushiki T, ed., Chromosome Nanoscience and Technology, pp 105-117
CRC Press 2007
Mechanical approaches to elucidate mechanisms of chromosome condensation at the nano- and micro-level. In: Fukui K, Ushiki T, ed., Chromosome Nanoscience and Technology, pp 1-13
CRC Press 2007
「クロモソーム植物染色体研究の方法」第3編染色体情報の解析と利用第4章電子顕微鏡および走査型プローブ顕微鏡20. 光プローブ顕微鏡による観察法福井希一・向井康比己・谷口研至編著, pp.176-178
養賢堂 2006

Professional career (1)：

博士(農学)

Work history (1)：

2019/03 - 愛知県医療療育総合センター発達障害研究所遺伝子医療研究部主任研究員

Awards (1)：

2003 - Chromosome Science論文賞(共著者)

Association Membership(s) (2)：

(財)染色体学会 , 日本人類遺伝学会

※ Researcher’s information displayed in J-GLOBAL is based on the information registered in researchmap. For details, see here.

Return to Previous Page