T
Toshihiro Ohura
Researcher at Tohoku University
Publications - 115
Citations - 4380
Toshihiro Ohura is an academic researcher from Tohoku University. The author has contributed to research in topics: Citrin & Compound heterozygosity. The author has an hindex of 32, co-authored 115 publications receiving 4080 citations. Previous affiliations of Toshihiro Ohura include Kagoshima University.
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Journal ArticleDOI
Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter
Jun-ichi Nezu,Ikumi Tamai,Asuka Oku,Rikiya Ohashi,Hikaru Yabuuchi,Noriyoshi Hashimoto,Hiroko Nikaido,Yoshimichi Sai,Akio Koizumi,Yutaka Shoji,Goro Takada,Toyojiro Matsuishi,Makoto Yoshino,Hirohisa Kato,Toshihiro Ohura,Gozoh Tsujimoto,Jun-ichiro Hayakawa,Miyuki Shimane,Akira Tsuji +18 more
TL;DR: These mutations provide the first evidence that loss of OCTN2 function causes primary systemic carnitine deficiency, an autosomal recessive disorder characterized by progressive cardiomyopathy, skeletal myopathy, hypoglycaemia and hyperammonaemia.
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Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder.
Robert Kleta,Elisa Romeo,Zorica Ristic,Toshihiro Ohura,C Stuart,Mauricio Arcos-Burgos,Mital H. Dave,Carsten A. Wagner,Simone R M Camargo,Sumiko Inoue,Norio Matsuura,Amanda Helip-Wooley,Detlef Bockenhauer,Richard Warth,Isa Bernardini,Gepke Visser,Thomas Eggermann,Philip Lee,Arthit Chairoungdua,Promsuk Jutabha,Ellappan Babu,Sirinun Nilwarangkoon,Naohiko Anzai,Yoshikatsu Kanai,François Verrey,William A. Gahl,Akio Koizumi +26 more
TL;DR: The protein product of SLC6A19, the Hartnup transporter, is expressed primarily in intestine and renal proximal tubule and functions as a neutral amino acid transporter.
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Cystathionine β‐synthase mutations in homocystinuria
Jan P. Kraus,Miroslav Janosik,Viktor Kožich,Roseann Mandell,Vivian E. Shih,Maria Pia Sperandeo,Gianfranco Sebastio,Raffaella de Franchis,Generoso Andria,Leo A. J. Kluijtmans,Henk J. Blom,Godfried H.J. Boers,Ross B. Gordon,Pierre Kamoun,Michael Y. Tsai,Warren D. Kruger,Hans G. Koch,Toshihiro Ohura,Mette Gaustadnes +18 more
TL;DR: Ninety‐two different disease‐associated mutations have been identified in the CBS gene in 310 examined homocystinuric alleles in more than a dozen laboratories around the world, and most of these mutations are missense, and the vast majority of these are private mutations.
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Effects of individual mutations in the P-450(C21) pseudogene on the P-450(C21) activity and their distribution in the patient genomes of congenital steroid 21-hydroxylase deficiency.
Yujiro Higashi,Takako Hiromasa,Ayako Tanae,Tetsuo Miki,Jun Nakura,Takuma Kondo,Toshihiro Ohura,Eishin Ogawa,Kazuo Nakayama,Yoshiaki Fujii-Kuriyama +9 more
TL;DR: A survey of the distribution of the various mutations in the patient genomes so far reported suggests that the heterogeneous clinical symptoms of this genetic disease are somehow related to the degree of attenuation of the activities of the mutated gene products.
Journal ArticleDOI
Genetic Epidemiology of the Carnitine Transporter OCTN2 Gene in a Japanese Population and Phenotypic Characterization in Japanese Pedigrees with Primary Systemic Carnitine Deficiency
Akio Koizumi,Jun-ichi Nozaki,Toshihiro Ohura,TsuyoshiKayo,Yasuhiko Wada,Jun-ichi Nezu,Rikiya Ohashi,Ikumi Tamai,Yutaka Shoji,Goro Takada,Satoshi Kibira,Toyojiro Matsuishi,Akira Tsuji +12 more
TL;DR: An echocardiographic study of the families of patients with primary carnitine deficiency revealed that the heterozygotes for OCTN2 mutations were predisposed to late onset benign cardiac hypertrophy compared with the wild-types.