Kazuhiro Nitta

Profile Information

Degree: 博士（理学）(東京大学)

Researcher number: 20770910
ORCID ID: https://orcid.org/0000-0003-3151-0962
J-GLOBAL ID: 201801017098369030
researchmap Member ID: B000313783

発生生物学、分子生物学、ゲノミクス、バイオインフォマティクス、核酸医薬などの研究を行ってきました。
転写因子、ゲノム解析、ミトコンドリア病を専門にしています。

Research Interests

Research Areas

Papers

Novel ITPA variants identified by whole genome sequencing and RNA sequencing.

Nanako Omichi, Yoshihito Kishita, Mina Nakama, Hideo Sasai, Atsushi Terazawa, Emiko Kobayashi, Takuya Fushimi, Yohei Sugiyama, Keiko Ichimoto, Kazuhiro R Nitta …

Journal of human genetics, 68(9) 649-652, May 29, 2023
Strategic validation of variants of uncertain significance in ECHS1 genetic testing.

Yoshihito Kishita, Ayumu Sugiura, Takanori Onuki, Tomohiro Ebihara, Tetsuro Matsuhashi, Masaru Shimura, Takuya Fushimi, Noriko Ichino, Yoshie Nagatakidani, Hitomi Nishihata …

Journal of medical genetics, Apr 13, 2023
Severe spinal cord hypoplasia due to a novel ATAD3A compound heterozygous deletion.

Tomohiro Ebihara, Taro Nagatomo, Yohei Sugiyama, Tomoko Tsuruoka, Yoshiteru Osone, Masaru Shimura, Makiko Tajika, Keiko Ichimoto, Yuki Naruke, Nana Akiyama …

Molecular genetics and metabolism reports, 33 100912-100912, Dec, 2022
Impact of measuring heteroplasmy of a pathogenic mitochondrial DNA variant at the single-cell level in individuals with mitochondrial disease.

Atsuko Imai-Okazaki, Kazuhiro R Nitta, Yukiko Yatsuka, Ayumu Sugiura, Masato Arao, Masaru Shimura, Tomohiro Ebihara, Takanori Onuki, Keiko Ichimoto, Akira Ohtake …

Journal of inherited metabolic disease, 45(6) 1143-1150, Nov, 2022
Development of Leigh syndrome with a high probability of cardiac manifestations in infantile-onset patients with m.14453G>A.

Masaru Shimura, Takanori Onuki, Yohei Sugiyama, Tetsuro Matsuhashi, Tomohiro Ebihara, Takuya Fushimi, Makiko Tajika, Keiko Ichimoto, Ayako Matsunaga, Tomoko Tsuruoka …

Mitochondrion, 63 1-8, Dec 18, 2021
Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosis.

Tomohiro Ebihara, Taro Nagatomo, Yohei Sugiyama, Tomoko Tsuruoka, Yoshiteru Osone, Masaru Shimura, Makiko Tajika, Tetsuro Matsuhashi, Keiko Ichimoto, Ayako Matsunaga …

Archives of disease in childhood. Fetal and neonatal edition, 107(3) 329-334, Oct 7, 2021
Genome sequencing and RNA-seq analyses of mitochondrial complex I deficiency revealed Alu insertion-mediated deletion in NDUFV2.

Yoshihito Kishita, Masaru Shimura, Masakazu Kohda, Takuya Fushimi, Kazuhiro R Nitta, Yukiko Yatsuka, Akira Ohtake, Kei Murayama, Yasushi Okazaki, Shinichi Hirose …

Human mutation, 42(11) 1422-1428, Aug 18, 2021
Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patients.

Atsuko Imai-Okazaki, Ayako Matsunaga, Yukiko Yatsuka, Kazuhiro R Nitta, Yoshihito Kishita, Ayumu Sugiura, Yohei Sugiyama, Takuya Fushimi, Masaru Shimura, Keiko Ichimoto …

International journal of cardiology, 341 48-55, Jul 20, 2021
Clinical heterogeneity in patients with m.4412G > A MT-TM mutation and different heteroplasmy levels.

Atsuko Imai-Okazaki, Nobuyasu Yagi, Kazuhiro R Nitta, Kei Murayama, Akira Ohtake, Yasushi Okazaki

Mitochondrion, 59 214-215, Jul, 2021
Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus.

Ann E Frazier, Alison G Compton, Yoshihito Kishita, Daniella H Hock, AnneMarie E Welch, Sumudu S C Amarasekera, Rocio Rius, Luke E Formosa, Atsuko Imai-Okazaki, David Francis …

Med (New York, N.Y.), 2(1) 49-73, Jan 15, 2021 Peer-reviewed
Functional annotation of human long noncoding RNAs via molecular phenotyping

Jordan A. Ramilowski, Chi Wai Yip, Saumya Agrawal, Jen-Chien Chang, Yari Ciani, Ivan V. Kulakovskiy, Mickaël Mendez, Jasmine Li Ching Ooi, John F. Ouyang, Nick Parkinson …

Genome Research, 30(7) 1060-1072, Jul, 2020 Peer-reviewed
A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency.

Yukiko Yatsuka, Yoshihito Kishita, Luke E Formosa, Masaru Shimura, Fumihito Nozaki, Tatsuya Fujii, Kazuhiro R Nitta, Akira Ohtake, Kei Murayama, Michael T Ryan …

Clinical genetics, 98(2) 155-165, May 8, 2020 Peer-reviewed
ANISEED 2019: 4D exploration of genetic data for an extended range of tunicates.

Justine Dardaillon, Delphine Dauga, Paul Simion, Emmanuel Faure, Takeshi A Onuma, Melissa B DeBiasse, Alexandra Louis, Kazuhiro R Nitta, Magali Naville, Lydia Besnardeau …

Nucleic acids research, 48(D1) D668-D675, Jan 8, 2020 Peer-reviewed
High-Throughput Protein Production Combined with High- Throughput SELEX Identifies an Extensive Atlas of Ciona robusta Transcription Factor DNA-Binding Specificities.

Nitta KR, Vincentelli R, Jacox E, Cimino A, Ohtsuka Y, Sobral D, Satou Y, Cambillau C, Lemaire P

Methods in molecular biology (Clifton, N.J.), 2025 487-517, 2019 Peer-reviewed
The interaction landscape between transcription factors and the nucleosome.

Zhu F, Farnung L, Kaasinen E, Sahu B, Yin Y, Wei B, Dodonova SO, Nitta KR, Morgunova E, Taipale M …

Nature, Sep, 2018 Peer-reviewed
ANISEED 2017: Extending the integrated ascidian database to the exploration and evolutionary comparison of genome-scale datasets

Matija Brozovic, Christelle Dantec, Justine Dardaillon, Delphine Dauga, Emmanuel Faure, Mathieu Gineste, Alexandra Louis, Magali Naville, Kazuhiro R Nitta, Jacques Piette …

Nucleic Acids Research, 46(1) D718-D725, Jan 1, 2018 Peer-reviewed
Impact of cytosine methylation on DNA binding specificities of human transcription factors

Yimeng Yin, Ekaterina Morgunova, Arttu Jolma, Eevi Kaasinen, Biswajyoti Sahu, Syed Khund-Sayeed, Pratyush K. Das, Teemu Kivioja, Kashyap Dave, Fan Zhong …

SCIENCE, 356(6337) 502-+, May, 2017 Peer-reviewed
Myt1l safeguards neuronal identity by actively repressing many non-neuronal fates

Moritz Mall, Michael S. Kareta, Soham Chanda, Henrik Ahlenius, Nicholas Perotti, Bo Zhou, Sarah D. Grieder, Xuecai Ge, Sienna Drake, Cheen Euong Ang …

NATURE, 544(7649) 245-+, Apr, 2017 Peer-reviewed
DNA-dependent formation of transcription factor pairs alters their binding specificity

Arttu Jolma, Yimeng Yin, Kazuhiro R. Nitta, Kashyap Dave, Alexander Popov, Minna Taipale, Martin Enge, Teemu Kivioja, Ekaterina Morgunova, Jussi Taipale

NATURE, 527(7578) 384-+, Nov, 2015 Peer-reviewed
Conservation of transcription factor binding specificities across 600 million years of bilateria evolution

Kazuhiro R. Nitta, Arttu Jolma, Yimeng Yin, Ekaterina Morgunova, Teemu Kivioja, Junaid Akhtar, Korneel Hens, Jarkko Toivonen, Bart Deplancke, Eileen E. M. Furlong …

ELIFE, 4, Mar, 2015 Peer-reviewed

Misc.

ミトコンドリア病を対象とした遺伝子パネルシーケンス

八塚由紀子, 八塚由紀子, 木下善仁, 新田和広, 新田和広, 岡崎敦子, 岡崎敦子, 杉浦歩, 杉浦歩, 祁新菊 …

日本遺伝子診療学会大会プログラム・抄録集, 29th, 2022
RNAシーケンスから明らかになった7番染色体部分欠失を伴うSengers症候群の一症例

八塚由紀子, 八塚由紀子, 木下善仁, 新田和広, 新田和広, 杉山洋平, 伏見拓矢, 伏見拓矢, 大竹明, 大竹明 …

日本人類遺伝学会大会プログラム・抄録集, 67th (CD-ROM), 2022
ミトコンドリア病疑いの未解決症例を対象とした全ゲノム解析とRNAシーケンスによるITPA遺伝子異常の同定

大道納菜子, 新田和広, 八塚由紀子, 仲間美奈, 仲間美奈, 寺澤厚志, 小林瑛美子, 笹井英雄, 笹井英雄, 大竹明 …

日本人類遺伝学会大会プログラム・抄録集, 67th (CD-ROM), 2022
ミトコンドリア呼吸鎖I欠損患者症のマルチオミクス解析から明らかになったAluを介したNDUFV2遺伝子の欠損

木下善仁, 木下善仁, 志村優, 神田将和, 伏見拓矢, 新田和広, 八塚由紀子, 大竹明, 大竹明, 村山圭 …

日本人類遺伝学会大会プログラム・抄録集, 66th (CD-ROM), 2021
NDUFA8のホモ接合型バリアントは発達遅滞,小頭症,てんかんを合併するミトコンドリア病を引き起こす

八塚由紀子, 木下善仁, 木下善仁, FORMOSA Luke E., 志村優, 野崎章仁, 藤井達哉, 新田和広, 大竹明, 大竹明 …

日本人類遺伝学会大会プログラム・抄録集, 66th (CD-ROM), 2021
3世代にわたり感音性難聴とてんかんを呈しm.12207G>Aが同定された家族例

味原さや香, 鶴岡恵, 八塚由紀子, 木下善仁, 木下善仁, 新田和広, 伏見拓矢, 岡崎康司, 村山圭, 大竹明 …

日本人類遺伝学会大会プログラム・抄録集, 66th (CD-ROM), 2021
小児ミトコンドリア病223症例における心筋症の遺伝的基盤および長期予後に関する検討

岡崎敦子, 松永綾子, 八塚由紀子, 新田和広, 木下善仁, 杉浦歩, 杉山洋平, 伏見拓矢, 志村優, 市本景子 …

日本小児心筋疾患学会学術集会プログラム・抄録集(Web), 30th, 2021
Comprehensive functional annotation for VUS of mitochondrial function-related genes

杉浦歩, 木下善仁, 松橋徹郎, 志村優, 小貫孝則, 海老原知博, 新田和広, 岡崎敦子, 八塚由紀子, 市野紀子 …

日本分子生物学会年会プログラム・要旨集(Web), 44th, 2021
分子コーバーコード技術を用いた長鎖フラグメントの短鎖シーケンス法による構造多型検出の評価例

尾崎心, 木下善仁, 田上道平, 高橋知登世, 平田智子, 野間将平, 八塚由紀子, 岡崎敦子, 岡崎敦子, 新田和広 …

日本人類遺伝学会大会プログラム・抄録集, 65th (CD-ROM), 2020
日本人小児ミトコンドリア病の固有VUSに対する網羅的な機能的アノテーション

岡崎康司, 岡崎康司, 木下善仁, 杉浦歩, 新田和広, 尾崎心, 尾崎心, 大竹明, 村山圭

日本生化学会大会(Web), 93rd, 2020

Research Projects

１細胞レベルのミトコンドリアヘテロプラスミー率の分布と伝搬および機能解析

科学研究費助成事業, 基盤研究(C), 日本学術振興会, Apr, 2022 - Mar, 2025

新田和広, 岡崎敦子

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