Výsledky vyhledávání - "Kazuhiro R, Nitta"

Akademický článek

Biallelic GGGCC repeat expansion leading to NAXE-related mitochondrial encephalopathy

Publikováno v: npj Genomic Medicine, Vol 9, Iss 1, Pp 1-12 (2024)

Abstract Repeat expansions cause at least 50 hereditary disorders, including Friedreich ataxia and other diseases known to cause mitochondrial dysfunction. We identified a patient with NAXE-related mitochondrial encephalopathy and novel biallelic GGG

Externí odkaz: https://doaj.org/article/4c622688009f4260844f138e0fda2dc8

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Akademický článek

Severe spinal cord hypoplasia due to a novel ATAD3A compound heterozygous deletion

Autor: Tomohiro Ebihara, Taro Nagatomo, Yohei Sugiyama, Tomoko Tsuruoka, Yoshiteru Osone, Masaru Shimura, Makiko Tajika, Keiko Ichimoto, Yuki Naruke, Nana Akiyama, Sze Chern Lim, Yukiko Yatsuka, Kazuhiro R. Nitta, Yoshihito Kishita, Takuya Fushimi, Atsuko Okazaki, Akira Ohtake, Yasushi Okazaki, Kei Murayama

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100912- (2022)

Biallelic deletions extending into the ATPase family AAA-domain containing protein 3A (ATAD3A) gene lead to infantile lethality with severe pontocerebellar hypoplasia (PCH). However, only 12 such cases have been reported worldwide to date, and the ge

Externí odkaz: https://doaj.org/article/188d708aee554ecca9d11c314c2a3186

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Impact of measuring heteroplasmy of a pathogenic mitochondrial DNA variant at the single‐cell level in individuals with mitochondrial disease

Autor: 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

Publikováno v: Journal of Inherited Metabolic Disease. 45:1143-1150

Pathogenic mitochondrial DNA heteroplasmy has mainly been assessed with bulk sequencing in individuals with mitochondrial disease. However, the distribution of heteroplasmy at the single-cell level in skin fibroblasts obtained from individuals, toget

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a910aa3448ce504474196a955fe3ecf
https://doi.org/10.1002/jimd.12547

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Development of Leigh syndrome with a high probability of cardiac manifestations in infantile-onset patients with m.14453G > A

Autor: Masaru Shimura, Takanori Onuki, Yohei Sugiyama, Tetsuro Matsuhashi, Tomohiro Ebihara, Takuya Fushimi, Makiko Tajika, Keiko Ichimoto, Ayako Matsunaga, Tomoko Tsuruoka, Kazuhiro R Nitta, Atsuko Imai-Okazaki, Yukiko Yatsuka, Yoshihito Kishita, Akira Ohtake, Yasushi Okazaki, Kei Murayama

Publikováno v: Mitochondrion. 63:1-8

The m.14453G A mutation in MT-ND6 has been described in a few patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes or Leigh syndrome.However, the clinical spectrum and molecular characteristics are unclear.Here, we

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1f23be9bf011a6d9c7d54e720258e30
https://doi.org/10.1016/j.mito.2021.12.005

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Involvement of GLCCI1 in mouse spermatogenesis

Autor: Masaru Takada, Daisuke Fukuhara, Toshihiko Takiura, Yukino Nishibori, Masashi Kotani, Zentaro Kiuchi, Akihiko Kudo, Olga Beltcheva, Noriko Ito‐Nitta, Kazuhiro R. Nitta, Toru Kimura, Jun‐Ichi Suehiro, Tomohisa Katada, Hiromu Takematsu, Kunimasa Yan

Publikováno v: The FASEB Journal. 37

Spermatid production is a complex regulatory process in which coordination between hormonal control and apoptosis plays a pivotal role in maintaining a balanced number of sperm cells. Apoptosis in spermatogenesis is controlled by pro-apoptotic and an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb8299bb7ca3bf0ce65c76611277c236
https://doi.org/10.1096/fj.202101667rr

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Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosis

Publikováno v: Archives of Disease in Childhood - Fetal and Neonatal Edition. 107:329-334

ObjectiveNeonatal-onset mitochondrial disease has not been fully characterised owing to its heterogeneity. We analysed neonatal-onset mitochondrial disease in Japan to clarify its clinical features, molecular diagnosis and prognosis.DesignRetrospecti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61126e287ca7b704b556155494de5de1
https://doi.org/10.1136/archdischild-2021-321633

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Strategic validation of variants of uncertain significance inECHS1genetic testing

Autor: Yoshihito Kishita, Ayumu Sugiura, Takanori Onuki, Tomohiro Ebihara, Tetsuro Matsuhashi, Masaru Shimura, Takuya Fushimi, Noriko Ichino, Yoshie Nagatakidani, Hitomi Nishihata, Kazuhiro R Nitta, Yukiko Yatsuka, Atsuko Imai-Okazaki, Yibo Wu, Hitoshi Osaka, Akira Ohtake, Kei Murayama, Yasushi Okazaki

Publikováno v: Journal of Medical Genetics. :jmg-2022

BackgroundEnoyl-CoA hydratase short-chain 1 (ECHS1) is an enzyme involved in the metabolism of branched chain amino acids and fatty acids. Mutations in theECHS1gene lead to mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, resulting in the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a900f39473c165a6ded6cd9041021db3
https://doi.org/10.1136/jmg-2022-109027

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