Ohura T - Search Results

1

Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder.

Kleta R, Romeo E, Ristic Z, Ohura T, Stuart C, Arcos-Burgos M, Dave MH, Wagner CA, Camargo SR, Inoue S, Matsuura N, Helip-Wooley A, Bockenhauer D, Warth R, Bernardini I, Visser G, Eggermann T, Lee P, Chairoungdua A, Jutabha P, Babu E, Nilwarangkoon S, Anzai N, Kanai Y, Verrey F, Gahl WA, Koizumi A. Kleta R, et al. Among authors: ohura t. Nat Genet. 2004 Sep;36(9):999-1002. doi: 10.1038/ng1405. Epub 2004 Aug 1. Nat Genet. 2004. PMID: 15286787

2

Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14).

Minatogawa M, Unzaki A, Morisaki H, Syx D, Sonoda T, Janecke AR, Slavotinek A, Voermans NC, Lacassie Y, Mendoza-Londono R, Wierenga KJ, Jayakar P, Gahl WA, Tifft CJ, Figuera LE, Hilhorst-Hofstee Y, Maugeri A, Ishikawa K, Kobayashi T, Aoki Y, Ohura T, Kawame H, Kono M, Mochida K, Tokorodani C, Kikkawa K, Morisaki T, Kobayashi T, Nakane T, Kubo A, Ranells JD, Migita O, Sobey G, Kaur A, Ishikawa M, Yamaguchi T, Matsumoto N, Malfait F, Miyake N, Kosho T. Minatogawa M, et al. Among authors: ohura t. J Med Genet. 2022 Sep;59(9):865-877. doi: 10.1136/jmedgenet-2020-107623. Epub 2021 Nov 23. J Med Genet. 2022. PMID: 34815299 Free PMC article.

3

Combined linkage analysis and exome sequencing identifies novel genes for familial goiter.

Yan J, Takahashi T, Ohura T, Adachi H, Takahashi I, Ogawa E, Okuda H, Kobayashi H, Hitomi T, Liu W, Harada KH, Koizumi A. Yan J, et al. Among authors: ohura t. J Hum Genet. 2013 Jun;58(6):366-77. doi: 10.1038/jhg.2013.20. Epub 2013 Mar 28. J Hum Genet. 2013. PMID: 23535966

4

Mutation analysis of the MMAA and MMAB genes in Japanese patients with vitamin B(12)-responsive methylmalonic acidemia: identification of a prevalent MMAA mutation.

Yang X, Sakamoto O, Matsubara Y, Kure S, Suzuki Y, Aoki Y, Suzuki Y, Sakura N, Takayanagi M, Iinuma K, Ohura T. Yang X, et al. Among authors: ohura t. Mol Genet Metab. 2004 Aug;82(4):329-33. doi: 10.1016/j.ymgme.2004.05.002. Mol Genet Metab. 2004. PMID: 15308131

5

[Hartnup disorder: Pathogenesis, pathophysiology, and therapy].

Ohura T. Ohura T. Nihon Rinsho. 2006 Feb;64 Suppl 2:541-4. Nihon Rinsho. 2006. PMID: 16523951 Review. Japanese. No abstract available.

6

Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia.

Yang X, Sakamoto O, Matsubara Y, Kure S, Suzuki Y, Aoki Y, Yamaguchi S, Takahashi Y, Nishikubo T, Kawaguchi C, Yoshioka A, Kimura T, Hayasaka K, Kohno Y, Iinuma K, Ohura T. Yang X, et al. Among authors: ohura t. Mol Genet Metab. 2004 Apr;81(4):335-42. doi: 10.1016/j.ymgme.2004.01.003. Mol Genet Metab. 2004. PMID: 15059621

7

Acid sphingomyelinase: relation of 93lysine residue on the ratio of intracellular to secreted enzyme activity.

Takahashi I, Takahashi T, Mikami T, Komatsu M, Ohura T, Schuchman EH, Takada G. Takahashi I, et al. Among authors: ohura t. Tohoku J Exp Med. 2005 Aug;206(4):333-40. doi: 10.1620/tjem.206.333. Tohoku J Exp Med. 2005. PMID: 15997205 Free article.

8

Current status of hepatic glycogen storage disease in Japan: clinical manifestations, treatments and long-term outcomes.

Kido J, Nakamura K, Matsumoto S, Mitsubuchi H, Ohura T, Shigematsu Y, Yorifuji T, Kasahara M, Horikawa R, Endo F. Kido J, et al. Among authors: ohura t. J Hum Genet. 2013 May;58(5):285-92. doi: 10.1038/jhg.2013.17. Epub 2013 Mar 14. J Hum Genet. 2013. PMID: 23486339

9

Genetic heterogeneity of peroxisome biogenesis disorders among Japanese patients: evidence for a founder haplotype for the most common PEX10 gene mutation.

Shimozawa N, Nagase T, Takemoto Y, Ohura T, Suzuki Y, Kondo N. Shimozawa N, et al. Among authors: ohura t. Am J Med Genet A. 2003 Jul 1;120A(1):40-3. doi: 10.1002/ajmg.a.20030. Am J Med Genet A. 2003. PMID: 12794690

10

Long-term efficacy of hematopoietic stem cell transplantation on brain involvement in patients with mucopolysaccharidosis type II: a nationwide survey in Japan.

Tanaka A, Okuyama T, Suzuki Y, Sakai N, Takakura H, Sawada T, Tanaka T, Otomo T, Ohashi T, Ishige-Wada M, Yabe H, Ohura T, Suzuki N, Kato K, Adachi S, Kobayashi R, Mugishima H, Kato S. Tanaka A, et al. Among authors: ohura t. Mol Genet Metab. 2012 Nov;107(3):513-20. doi: 10.1016/j.ymgme.2012.09.004. Epub 2012 Sep 7. Mol Genet Metab. 2012. PMID: 23022072

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