1 - 25 of
75
results
for author:"Minoshima S."
in Literature Citations
| Analysis of eighteen deletion breakpoints in the parkin gene. Asakawa S., Hattori N., Shimizu A., Shimizu Y., Minoshima S., Mizuno Y., Shimizu N. Biochem. Biophys. Res. Commun. 389:181-186(2009) · Mapped (14) |
| Novel RDH5 mutation in family with mother having fundus albipunctatus and three children with retinitis pigmentosa. Wang C., Nakanishi N., Ohishi K., Hikoya A., Koide K., Sato M., Nakamura M., Hotta Y., Minoshima S. Ophthalmic Genet. 29:29-32(2008) · Mapped (3) |
| Nucleolar localization of DGCR8 and identification of eleven DGCR8-associated proteins. Shiohama A., Sasaki T., Noda S., Minoshima S., Shimizu N. Exp. Cell Res. 313:4196-4207(2007) · UniProtKB (1) · Mapped (1) |
| Three novel mutations of the PAX6 gene in Japanese aniridia patients. Kawano T., Wang C., Hotta Y., Sato M., Iwata-Amano E., Hikoya A., Fujita N., Koyama N., Shirai S., Azuma N. et al. J. Hum. Genet. 52:571-574(2007) · Mapped (12) |
| Identification of three novel proteins (SGSM1, 2, 3) which modulate small G protein (RAP and RAB)-mediated signaling pathway. Yang H., Sasaki T., Minoshima S., Shimizu N. |
| DNA sequence and analysis of human chromosome 8. Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A. et al. |
| In vivo butyrylcholinesterase activity is not increased in Alzheimer's disease synapses. Kuhl D.E., Koeppe R.A., Snyder S.E., Minoshima S., Frey K.A., Kilbourn M.R. Ann. Neurol. 59:13-20(2006) · Mapped (2) |
| Cerebral glucose metabolism in patients with AD and different APOE genotypes. Drzezga A., Riemenschneider M., Strassner B., Grimmer T., Peller M., Knoll A., Wagenpfeil S., Minoshima S., Schwaiger M., Kurz A. Neurology 64:102-107(2005) · Mapped (6) |
| Identification and characterization of a novel gene family YPEL in a wide spectrum of eukaryotic species. Hosono K., Sasaki T., Minoshima S., Shimizu N. Gene 340:31-43(2004) · UniProtKB (17) |
| Initial characterization of an uromodulin-like 1 gene on human chromosome 21q22.3. Shibuya K., Nagamine K., Okui M., Ohsawa Y., Asakawa S., Minoshima S., Hase T., Kudoh J., Shimizu N. Biochem. Biophys. Res. Commun. 319:1181-1189(2004) · UniProtKB (10) |
| Novel insertional presenilin 1 mutation causing Alzheimer disease with spastic paraparesis. Moretti P., Lieberman A.P., Wilde E.A., Giordani B.I., Kluin K.J., Koeppe R.A., Minoshima S., Kuhl D.E., Seltzer W.K., Foster N.L. Neurology 62:1865-1868(2004) · Mapped (5) |
| A cluster of 21 keratin-associated protein genes within introns of another gene on human chromosome 21q22.3. Shibuya K., Obayashi I., Asakawa S., Minoshima S., Kudoh J., Shimizu N. Genomics 83:679-693(2004) · UniProtKB (19) |
| Role of TBX1 in human del22q11.2 syndrome. Yagi H., Furutani Y., Hamada H., Sasaki T., Asakawa S., Minoshima S., Ichida F., Joo K., Kimura M., Imamura S. et al. Lancet 362:1366-1373(2003) · UniProtKB (1) |
| Identification of eight members of the Argonaute family in the human genome. Sasaki T., Shiohama A., Minoshima S., Shimizu N. Genomics 82:323-330(2003) · UniProtKB (5) |
| Molecular cloning and expression analysis of a novel gene DGCR8 located in the DiGeorge syndrome chromosomal region. Shiohama A., Sasaki T., Noda S., Minoshima S., Shimizu N. Biochem. Biophys. Res. Commun. 304:184-190(2003) · UniProtKB (2) · Mapped (8) |
| The human ribosomal protein genes: sequencing and comparative analysis of 73 genes. Yoshihama M., Uechi T., Asakawa S., Kawasaki K., Kato S., Higa S., Maeda N., Minoshima S., Tanaka T., Shimizu N. et al. Genome Res. 12:379-390(2002) · UniProtKB (34) |
| Molecular cloning of a member of the facilitative glucose transporter gene family GLUT11 (SLC2A11) and identification of transcription variants. Sasaki T., Minoshima S., Shiohama A., Shintani A., Shimizu A., Asakawa S., Kawasaki K., Shimizu N. Biochem. Biophys. Res. Commun. 289:1218-1224(2001) · UniProtKB (1) |
| Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency. Yang X., Aoki Y., Li X., Sakamoto O., Hiratsuka M., Kure S., Taheri S., Christensen E., Inui K., Kubota M. et al. Hum. Genet. 109:526-534(2001) · UniProtKB (1) |
| Developmental changes in the expression of parkin and UbcR7, a parkin-interacting and ubiquitin-conjugating enzyme, in rat brain. Wang M., Suzuki T., Kitada T., Asakawa S., Minoshima S., Shimizu N., Tanaka K., Mizuno Y., Hattori N. J. Neurochem. 77:1561-1568(2001) · Mapped (1) |
| Analysis of the cat eye syndrome critical region in humans and the region of conserved synteny in mice: a search for candidate genes at or near the human chromosome 22 pericentromere. Footz T.K., Brinkman-Mills P., Banting G.S., Maier S.A., Riazi M.A., Bridgland L.J., Hu S., Birren B., Minoshima S., Shimizu N. et al. Genome Res. 11:1053-1070(2001) · UniProtKB (7) · Mapped (21) |
| Isolation and characterization of the UBASH3A gene on 21q22.3 encoding a potential nuclear protein with a novel combination of domains. Wattenhofer M., Shibuya K., Kudoh J., Lyle R., Michaud J., Rossier C., Kawasaki K., Asakawa S., Minoshima S., Berry A. et al. Hum. Genet. 108:140-147(2001) · UniProtKB (1) |
| Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness. Scott H.S., Kudoh J., Wattenhofer M., Shibuya K., Berry A., Chrast R., Guipponi M., Wang J., Kawasaki K., Asakawa S. et al. Nat. Genet. 27:59-63(2001) · UniProtKB (1) |
| Cloning and characterization of a putative human glycerol 3-phosphate permease gene (SLC37A1 or G3PP) on 21q22.3: mutation analysis in two candidate phenotypes, DFNB10 and a glycerol kinase deficiency. Bartoloni L., Wattenhofer M., Kudoh J., Berry A., Shibuya K., Kawasaki K., Wang J., Asakawa S., Talior I., Bonne-Tamir B. et al. |
| Isolation and characterization of a human chromosome 21q22.3 gene (WDR4) and its mouse homologue that code for a WD-repeat protein. Michaud J., Kudoh J., Berry A., Bonne-Tamir B., Lalioti M.D., Rossier C., Shibuya K., Kawasaki K., Asakawa S., Minoshima S. et al. Genomics 68:71-79(2000) · UniProtKB (2) |
| Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure, and exclusion of six known genes in the region. Berry A., Scott H.S., Kudoh J., Talior I., Korostishevsky M., Wattenhofer M., Guipponi M., Barras C., Rossier C., Shibuya K. et al. Genomics 68:22-29(2000) · UniProtKB (5) |
