Kazuhiro R Nitta

Publication Activity (10 Years)

Years Active: 2018-2022
Publications (10 Years): 5

Top Topics

Cystic Fibrosis

Mitochondrial Dna

Intellectual Disability

Top Venues

Journal of inherited metabolic disease

Archives of disease in childhood. Fetal and neonatal edition

Science (New York, N.Y.)

This page only lists publications with an associated author ORCID identifier.

Publications

Atsuko Imai-Okazaki, Kazuhiro R Nitta, Yukiko Yatsuka, Ayumu Sugiura, Masato Arao, Masaru Shimura, Tomohiro Ebihara, Takanori Onuki, Keiko Ichimoto, Akira Ohtake, Kei Murayama, Yasushi Okazaki
Impact of measuring heteroplasmy of a pathogenic mitochondrial DNA variant at the single-cell level in individuals with mitochondrial disease. Journal of inherited metabolic disease 45 (6) (2022)
Tomohiro Ebihara, Taro Nagatomo, Yohei Sugiyama, Tomoko Tsuruoka, Yoshiteru Osone, Masaru Shimura, Makiko Tajika, Tetsuro Matsuhashi, Keiko Ichimoto, Ayako Matsunaga, Nana Akiyama, Minako Ogawa-Tominaga, Yukiko Yatsuka, Kazuhiro R Nitta, Yoshihito Kishita, Takuya Fushimi, Atsuko Imai-Okazaki, Akira Ohtake, Yasushi Okazaki, Kei Murayama
Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosis. Archives of disease in childhood. Fetal and neonatal edition (2021)
Yoshihito Kishita, Masaru Shimura, Masakazu Kohda, Takuya Fushimi, Kazuhiro R Nitta, Yukiko Yatsuka, Shinichi Hirose, Hiroshi Ideguchi, Akira Ohtake, Kei Murayama, Yasushi Okazaki
Genome sequencing and RNA-seq analyses of mitochondrial complex I deficiency revealed Alu insertion-mediated deletion in NDUFV2. Human mutation 42 (11) (2021)
Yukiko Yatsuka, Yoshihito Kishita, Luke E Formosa, Masaru Shimura, Fumihito Nozaki, Tatsuya Fujii, Kazuhiro R Nitta, Akira Ohtake, Kei Murayama, Michael T Ryan, Yasushi Okazaki
A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency. Clinical genetics 98 (2) (2020)
Yimeng Yin, Ekaterina Morgunova, Arttu Jolma, Eevi Kaasinen, Biswajyoti Sahu, Syed Khund-Sayeed, Pratyush Kumar Das, Teemu Kivioja, Kashyap Dave, Fan Zhong, Kazuhiro R Nitta, Minna Taipale, Alexander N Popov, Paul A Ginno, Silvia Domcke, Jian Yan, Dirk Schübeler, Charles Vinson, Jussi Taipale
Impact of cytosine methylation on DNA binding specificities of human transcription factors. Science (New York, N.Y.) 356 (6337) (2018)