1 - 25 of 87 results for author:"Minoshima S." in Literature citations
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| A novel big protein TPRBK possessing 25 units of TPR motif is essential for the progress of mitosis and cytokinesis. Izumiyama T., Minoshima S., Yoshida T., Shimizu N. |
| Two novel mutations in the EYS gene are possible major causes of autosomal recessive retinitis pigmentosa in the Japanese population. Hosono K., Ishigami C., Takahashi M., Park D.H., Hirami Y., Nakanishi H., Ueno S., Yokoi T., Hikoya A., Fujita T. et al. PLoS ONE 7:e31036-e31036(2012) · Mapped (4) |
| Clinical features of a Japanese case with Bothnia dystrophy. Nojima K., Hosono K., Zhao Y., Toshiba T., Hikoya A., Asai T., Kato M., Kondo M., Minoshima S., Hotta Y. Ophthalmic Genet. 33:83-88(2012) · Mapped (1) |
| Elevated transcription factor specificity protein 1 in autistic brains alters the expression of autism candidate genes. Thanseem I., Anitha A., Nakamura K., Suda S., Iwata K., Matsuzaki H., Ohtsubo M., Ueki T., Katayama T., Iwata Y. et al. Biol. Psychiatry 71:410-418(2012) · Mapped (7) |
| Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations. Nakanishi H., Ohtsubo M., Iwasaki S., Hotta Y., Usami S., Mizuta K., Mineta H., Minoshima S. J. Hum. Genet. 56:484-490(2011) · Mapped (1) |
| A case of aniridia with unilateral Peters anomaly. Sawada M., Sato M., Hikoya A., Wang C., Minoshima S., Azuma N., Hotta Y. J AAPOS 15:104-106(2011) · Mapped (12) |
| Case of Japanese patient with x-linked ocular albinism associated with GPR143 gene mutation. Ohtsubo M., Sato M., Hikoya A., Hosono K., Minoshima S., Hotta Y. Jpn. J. Ophthalmol. 54:624-626(2010) · Mapped (1) |
| Mutation analysis of the MYO7A and CDH23 genes in Japanese patients with Usher syndrome type 1. Nakanishi H., Ohtsubo M., Iwasaki S., Hotta Y., Takizawa Y., Hosono K., Mizuta K., Mineta H., Minoshima S. J. Hum. Genet. 55:796-800(2010) · Mapped (15) |
| YPEL5 protein of the YPEL gene family is involved in the cell cycle progression by interacting with two distinct proteins RanBPM and RanBP10. Hosono K., Noda S., Shimizu A., Nakanishi N., Ohtsubo M., Shimizu N., Minoshima S. Genomics 96:102-111(2010) · Mapped (23) |
| Identification of 11 novel mutations in USH2A among Japanese patients with Usher syndrome type 2. Nakanishi H., Ohtsubo M., Iwasaki S., Hotta Y., Mizuta K., Mineta H., Minoshima S. Clin. Genet. 76:383-391(2009) · Mapped (1) |
| 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 (15) |
| 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 (2) |
| 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. |
| Positron emission tomography of monoaminergic vesicular binding in aging and Parkinson disease. Bohnen N.I., Albin R.L., Koeppe R.A., Wernette K.A., Kilbourn M.R., Minoshima S., Frey K.A. J. Cereb. Blood Flow Metab. 26:1198-1212(2006) · Mapped (1) |
| 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 (3) |
| 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 (5) |
| 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) |
| Multiple gene organization of pufferfish Fugu rubripes tropomyosin isoforms and tissue distribution of their transcripts. Toramoto T., Ikeda D., Ochiai Y., Minoshima S., Shimizu N., Watabe S. Gene 331:41-51(2004) · UniProtKB (7) |
| 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) |