Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Atsuko Imai- Okazaki"'
Autor:
Sayaka Suzuki-Ajihara, Megumi Saito-Tsuruoka, Hiroko Harashima, Katsumi Arai, Hiroyoshi Koide, Yukiko Yatsuka, Atsuko Imai-Okazaki, Yasushi Okazaki, Kei Murayama, Chikahiko Numakura, Yuko Akioka, Akira Ohtake
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 35, Iss , Pp 100966- (2023)
The identification of the m.12207G > A variant in MT-TS2, (NC_012920.1:m.12207G > A) was first reported in 2006. The affected individual presented with developmental delay, feeding difficulty, proximal muscle weakness, and lesions within her basal ga
Externí odkaz:
https://doaj.org/article/20f6712ad8bf48159c020c1d77d87904
Autor:
Yoshihito Kishita, Masaru Shimura, Masakazu Kohda, Masumi Akita, Atsuko Imai‐Okazaki, Yukiko Yatsuka, Yoko Nakajima, Tetsuya Ito, Akira Ohtake, Kei Murayama, Yasushi Okazaki
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 10, Pp n/a-n/a (2020)
Abstract Background Mitochondrial DNA depletion syndrome (MTDPS) is part of a group of mitochondrial diseases characterized by a reduction in mitochondrial DNA copy number. Most MTDPS is caused by mutations in genes that disrupt deoxyribonucleotide m
Externí odkaz:
https://doaj.org/article/e50b0a400ee94b08aec7f77989654e0e
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
https://doi.org/10.1002/jimd.12547
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
https://doi.org/10.1016/j.mito.2021.12.005
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; Oct2023, Vol. 60 Issue 10, p1005-1015, 24p
Autor:
Keiko Nomura, Shiro Ozasa, Kei Murayama, Tomoko Tsuruoka, Atsuko Imai-Okazaki, Yasutoshi Koga, Kimitoshi Nakamura, Tomoko Kashiki, Jun Kido, Ken Momosaki, Shouichirou Kusunoki
Publikováno v:
Brain and Development. 44:56-62
Introduction Autosomal dominant mitochondrial DNA depletion syndrome (MTDPS-12A) is characterized by severe hypotonia from birth due to a mutation in the adenine nucleotide translocator 1 (ANT1). Case report A 4-year-old female patient diagnosed with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5c73d209b4d8a48ecc435ac9a9ac61bf
https://doi.org/10.1016/j.braindev.2021.08.005
https://doi.org/10.1016/j.braindev.2021.08.005
Autor:
Tomohiro Ebihara, Yohei Sugiyama, Taro Nagatomo, Keiko Ichimoto, Makiko Tajika, Minako Ogawa-Tominaga, Nana Akiyama, Yasushi Okazaki, Kei Murayama, Atsuko Imai-Okazaki, Takuya Fushimi, Yukiko Yatsuka, Masaru Shimura, Kazuhiro R. Nitta, Yoshiteru Osone, Tetsuro Matsuhashi, Yoshihito Kishita, Akira Ohtake, Tomoko Tsuruoka, Ayako Matsunaga
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
https://doi.org/10.1136/archdischild-2021-321633
Autor:
Takuya Fushimi, Atsuhito Takeda, Shuko Nojiri, Hiroko Harashima, Kazuhiro R. Nitta, Masakazu Kohda, Ayako Matsunaga, Yasushi Okazaki, Yasushi Sakata, Akira Ohtake, Minako Ogawa-Tominaga, Makiko Tajika, Tetsuro Matsuhashi, Akihiro Nakaya, Tomoko Hirata, Yohei Sugiyama, Ayumu Sugiura, Kei Murayama, Tomohiro Ebihara, Keiko Ichimoto, Atsuko Imai-Okazaki, Masaru Shimura, Yoshihito Kishita, Yukiko Yatsuka, Tomoko Tsuruoka, Shigetoyo Kogaki
Publikováno v:
International Journal of Cardiology. 341:48-55
BACKGROUND Cardiomyopathy is a risk factor for poor prognosis in pediatric patients with mitochondrial disease. However, other risk factors including genetic factors related to poor prognosis in mitochondrial disease has yet to be fully elucidated. M
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02329003d97299262a55193c38a5e59e
https://doi.org/10.1016/j.ijcard.2021.06.042
https://doi.org/10.1016/j.ijcard.2021.06.042
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
https://doi.org/10.1136/jmg-2022-109027
Autor:
Takao Tsujioka, Ayako Nagai, Gaku Izumi, Emi Takakuwa, Kei Murayama, Jiro Abe, Daisuke Sasaki, Atsuhito Takeda, John M. Basgen, Yasushi Okazaki, Atsuko Imai-Okazaki, Kota Taniguchi, Akira Ohtake, Hirokuni Yamazawa
Publikováno v:
Journal of Clinical Pathology. 74:365-371
AimsMitochondrial cardiomyopathy (MCM) is difficult to make a definite diagnosis because of various cardiovascular phenotypes and no diagnostic criteria in the pathology examination. We aim to add myocardial pathology to the diagnostic criteria for m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e468be46d9ce53c329897e849923962
https://doi.org/10.1136/jclinpath-2020-206801
https://doi.org/10.1136/jclinpath-2020-206801