1 - 25 of 28 results for author:"Orii K." in Literature citations
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| STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern. Saitsu H., Kato M., Okada I., Orii K.E., Higuchi T., Hoshino H., Kubota M., Arai H., Tagawa T., Kimura S. et al. Epilepsia 51:2397-2405(2010) · Mapped (6) |
| Molecular characterization of methicillin-resistant Staphylococcus aureus from a fatal case of necrotizing fasciitis in an extremely low-birth-weight infant. Orii K.O., Iwao Y., Higuchi W., Takano T., Yamamoto T. Clin. Microbiol. Infect. 16:289-292(2010) · UniProtKB (1) |
| Structural basis for the multiple interactions of the MyD88 TIR domain in TLR4 signaling. Ohnishi H., Tochio H., Kato Z., Orii K.E., Li A., Kimura T., Hiroaki H., Kondo N., Shirakawa M. Proc. Natl. Acad. Sci. U.S.A. 106:10260-10265(2009) · UniProtKB (1) · Mapped (8) |
| Recurrent genomic alterations characterize medulloblastoma arising from DNA double-strand break repair deficiency. Frappart P.O., Lee Y., Russell H.R., Chalhoub N., Wang Y.D., Orii K.E., Zhao J., Kondo N., Baker S.J., McKinnon P.J. Proc. Natl. Acad. Sci. U.S.A. 106:1880-1885(2009) · Mapped (29) |
| Liver-specific silencing of the human gene encoding succinyl-CoA: 3-ketoacid CoA transferase. Orii K.E., Fukao T., Song X.Q., Mitchell G.A., Kondo N. Tohoku J. Exp. Med. 215:227-236(2008) · Mapped (6) |
| Effect of 'attenuated' mutations in mucopolysaccharidosis IVA on molecular phenotypes of N-acetylgalactosamine-6-sulfate sulfatase. Montano A.M., Sukegawa K., Kato Z., Carrozzo R., Di Natale P., Christensen E., Orii K.O., Orii T., Kondo N., Tomatsu S. J. Inherit. Metab. Dis. 30:758-767(2007) · Mapped (8) |
| Selective utilization of nonhomologous end-joining and homologous recombination DNA repair pathways during nervous system development. Orii K.E., Lee Y., Kondo N., McKinnon P.J. Proc. Natl. Acad. Sci. U.S.A. 103:10017-10022(2006) · Mapped (34) |
| Development of MPS IVA mouse (Galnstm(hC79S.mC76S)slu) tolerant to human N-acetylgalactosamine-6-sulfate sulfatase. Tomatsu S., Gutierrez M., Nishioka T., Yamada M., Yamada M., Tosaka Y., Grubb J.H., Montano A.M., Vieira M.B., Trandafirescu G.G. et al. Hum. Mol. Genet. 14:3321-3335(2005) · Mapped (2) |
| Mutational and structural analysis of Japanese patients with mucopolysaccharidosis type II. Kato T., Kato Z., Kuratsubo I., Tanaka N., Ishigami T., Kajihara J., Sukegawa-Hayasaka K., Orii K., Isogai K., Fukao T. et al. J. Hum. Genet. 50:395-402(2005) · Mapped (6) |
| Mucopolysaccharidosis IVA (Morquio A): identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patients. Tomatsu S., Filocamo M., Orii K.O., Sly W.S., Gutierrez M.A., Nishioka T., Serrato O.P., Di Natale P., Montano A.M., Yamaguchi S. et al. Hum. Mutat. 24:187-188(2004) · Mapped (8) |
| General implications for CpG hot spot mutations: methylation patterns of the human iduronate-2-sulfatase gene locus. Tomatsu S., Orii K.O., Bi Y., Gutierrez M.A., Nishioka T., Yamaguchi S., Kondo N., Orii T., Noguchi A., Sly W.S. Hum. Mutat. 23:590-598(2004) · Mapped (6) |
| Contribution of the H63D mutation in HFE to murine hereditary hemochromatosis. Tomatsu S., Orii K.O., Fleming R.E., Holden C.C., Waheed A., Britton R.S., Gutierrez M.A., Velez-Castrillon S., Bacon B.R., Sly W.S. Proc. Natl. Acad. Sci. U.S.A. 100:15788-15793(2003) · Mapped (5) |
| Mouse model of N-acetylgalactosamine-6-sulfate sulfatase deficiency (Galns-/-) produced by targeted disruption of the gene defective in Morquio A disease. Tomatsu S., Orii K.O., Vogler C., Nakayama J., Levy B., Grubb J.H., Gutierrez M.A., Shim S., Yamaguchi S., Nishioka T. et al. Hum. Mol. Genet. 12:3349-3358(2003) · Mapped (8) |
| Production of MPS VII mouse (Gus(tm(hE540A x mE536A)Sly)) doubly tolerant to human and mouse beta-glucuronidase. Tomatsu S., Orii K.O., Vogler C., Grubb J.H., Snella E.M., Gutierrez M., Dieter T., Holden C.C., Sukegawa K., Orii T. et al. Hum. Mol. Genet. 12:961-973(2003) · Mapped (6) |
| Long-term follow-up of hepatitis C virus infection: HLA class II loci influences the natural history of the disease. Yoshizawa K., Ota M., Saito S., Maruyama A., Yamaura T., Rokuhara A., Orii K., Ichijo T., Matsumoto A., Tanaka E. et al. Tissue Antigens 61:159-165(2003) · Mapped (481) |
| Missense models [Gustm(E536A)Sly, Gustm(E536Q)Sly, and Gustm(L175F)Sly] of murine mucopolysaccharidosis type VII produced by targeted mutagenesis. Tomatsu S., Orii K.O., Vogler C., Grubb J.H., Snella E.M., Gutierrez M.A., Dieter T., Sukegawa K., Orii T., Kondo N. et al. Proc. Natl. Acad. Sci. U.S.A. 99:14982-14987(2002) · Mapped (6) |
| Acyl-CoA thioesterases belong to a novel gene family of peroxisome proliferator-regulated enzymes involved in lipid metabolism. Hunt M.C., Lindquist P.J.G., Nousiainen S.E.B., Huttunen M.K., Orii K.E., Svensson L.T., Aoyama T., Hashimoto T., Diczfalusy U., Alexson S.E.H. Cell Biochem. Biophys. 32:317-324(2000) · UniProtKB (2) |
| Succinyl-CoA:3-ketoacid CoA transferase (SCOT): cloning of the human SCOT gene, tertiary structural modeling of the human SCOT monomer, and characterization of three pathogenic mutations. Fukao T., Mitchell G.A., Song X.-Q., Nakamura H., Kassovska-Bratinova S., Orii K.E., Wraith J.E., Besley G., Wanders R.J.A., Niezen-Koning K.E. et al. Genomics 68:144-151(2000) · UniProtKB (1) |
| The mouse N-acetylgalactosamine-6-sulfate sulfatase (Galns) gene: cDNA isolation, genomic characterization, chromosomal assignment and analysis of the 5'-flanking region. Montano A.M., Yamagishi A., Tomatsu S., Fukuda S., Copeland N.G., Orii K.E., Isogai K., Yamada N., Kato Z.I., Jenkins N.A. et al. Biochim. Biophys. Acta 1500:323-334(2000) · UniProtKB (1) · Mapped (6) |
| Peroxisome proliferator-induced long chain acyl-CoA thioesterases comprise a highly conserved novel multi-gene family involved in lipid metabolism. Hunt M.C., Nousiainen S.E.B., Huttunen M.K., Orii K.E., Svensson L.T., Alexson S.E.H. J. Biol. Chem. 274:34317-34326(1999) · UniProtKB (4) · Mapped (4) |
| Genes for the human mitochondrial trifunctional protein alpha- and beta-subunits are divergently transcribed from a common promoter region. Orii K.E., Orii K.O., Souri M., Orii T., Kondo N., Hashimoto T., Aoyama T. J. Biol. Chem. 274:8077-8084(1999) · UniProtKB (1) |
| Characterization of N93S, I312T, and A333P missense mutations in two Japanese families with mitochondrial acetoacetyl-CoA thiolase deficiency. Fukao T., Nakamura H., Song X.-Q., Nakamura K., Orii K.E., Kohno Y., Kano M., Yamaguchi S., Hashimoto T., Orii T. et al. Hum. Mutat. 12:245-254(1998) · UniProtKB (1) |
| BLM (the causative gene of Bloom syndrome) protein translocation into the nucleus by a nuclear localization signal. Kaneko H., Orii K.O., Matsui E., Shimozawa N., Fukao T., Matsumoto T., Shimamoto A., Furuichi Y., Hayakawa S., Kasahara K. et al. Biochem. Biophys. Res. Commun. 240:348-353(1997) · UniProtKB (1) · Mapped (1) |
| Assignment of the gene for very-long-chain acyl-CoA dehydrogenase (Acadvl) to mouse chromosome band 11B2-B5 by in situ hybridization. Orii K.O., Saito-Ohara F., Ikeuchi T., Orii T., Kondo N., Aoyama T., Hashimoto T. Cytogenet. Cell Genet. 78:25-26(1997) · Mapped (3) |
| Genomic and mutational analysis of the mitochondrial trifunctional protein beta-subunit (HADHB) gene in patients with trifunctional protein deficiency. Orii K.E., Aoyama T., Wakui K., Fukushima Y., Miyajima H., Yamaguchi S., Orii T., Kondo N., Hashimoto T. Hum. Mol. Genet. 6:1215-1224(1997) · UniProtKB (1) |