共同利用研究室(遺伝子医学研究室)

研究成果

年別の研究成果 1983 1995 1997 1998 2000 2004 2018

• 102 Article
• 4 Review article
• 2 Comment/debate
• 2 Letter

年別の研究成果

年別の研究成果

検索結果

• Shotgun polymerase chain reaction: Construction of clone libraries specific to a NotI fragment of flow-sorted human chromosome 22

  Kawasaki, K., Minoshima, S., Kudoh, J. & Shimizu, N., 1992 5月, In: Genomics. 13, 1, p. 109-114 6 p.

  研究成果: Article › 査読

  • Immunoglobulin Constant Regions 100%
  • Chromosomes, Human, Pair 22 74%
  • Firearms 63%
  • Human Chromosomes 63%
  • Clone Cells 44%
  5 被引用数 (Scopus)

• Sixth International Workshop on Human Chromosome 21 Mapping 1996, New York, May 6-8 1996: Report

  Korenberg, J. R., Aaltonen, J., Brahe, C., Cabin, D., Creau, N., Delabar, J. M., Doering, J., Gardiner, K., Hubert, R. S., Ives, J., Kessling, A., Kudoh, J., Lafreniere, R., Murakami, Y., Ohira, M., Ohki, M., Patterson, D., Potier, M. C., Quackenbush, J., Reeves, R. H. & 5 others, Sakaki, Y., Shimizu, N., Soeda, E., Van Broeckhoven, C. & Yaspo, M. L., 1997, In: Cytogenetics and Cell Genetics. 79, 1-2, p. 22-34 13 p.

  研究成果: Article › 査読
  2 被引用数 (Scopus)

• Spectrum of pathogenic mitochondrial DNA mutations and clinical features in Japanese families with Leber's hereditary optic neuropathy

  Mashima, Y., Yamada, K., Wakakura, M., Kigasawa, K., Kudoh, J., Shimizu, N. & Oguchi, Y., 1998 4月, In: Current Eye Research. 17, 4, p. 403-408 6 p.

  研究成果: Article › 査読

  • Leber's Hereditary Optic Atrophy 100%
  • Mitochondrial DNA 71%
  • Mutation 38%
  • Optic Atrophy 6%
  • Population 5%
  116 被引用数 (Scopus)

• Subcellular expression of autoimmune regulator is organized in a spatiotemporal manner

  Akiyoshi, H., Hatakeyama, S., Pitkänen, J., Mouri, Y., Doucas, V., Kudoh, J., Tsurugaya, K., Uchida, D., Matsushima, A., Oshikawa, K., Nakayama, K. I., Shimizu, N., Peterson, P. & Matsumoto, M., 2004 8月 6, In: Journal of Biological Chemistry. 279, 32, p. 33984-33991 8 p.

  研究成果: Article › 査読

  • Proteasome Endopeptidase Complex 100%
  • Fractionation 84%
  • Molecular Dynamics 70%
  • Nuclear Matrix 65%
  • Cyclic AMP Response Element-Binding Protein 60%
  56 被引用数 (Scopus)

• The autoimmune regulator protein has transcriptional transactivating properties and interacts with the common coactivator CREB-binding protein

  Pitkänen, J., Doucas, V., Sternsdorf, T., Nakajima, T., Aratani, S., Jensen, K., Will, H., Vähämurto, P., Ollila, J., Vihinen, M., Scott, H. S., Antonarakis, S. E., Kudoh, J., Shimizu, N., Krohn, K. & Peterson, P., 2000 6月 2, In: Journal of Biological Chemistry. 275, 22, p. 16802-16809 8 p.

  研究成果: Article › 査読

  • CREB-Binding Protein 100%
  • Type 1 Autoimmune polyendocrinopathy syndrome 38%
  • Autoimmune Polyendocrinopathies 35%
  • Protein 28%
  • Mutation 25%
  193 被引用数 (Scopus)

• The classic form of granular corneal dystrophy associated with R555W mutation in the BIGH3 gene is rare in Japanese patients

  Konishi, M., Mashima, Y., Yamada, M., Kudoh, J. & Shimizu, N., 1998 9月, In: American Journal of Ophthalmology. 126, 3, p. 450-452 3 p.

  研究成果: Article › 査読

  • Mutation 100%
  • Genes 71%
  • Corneal dystrophy Avellino type 46%
  • Slit Lamp Microscopy 33%
  • Amyloid Plaques 27%
  40 被引用数 (Scopus)

• The mammalian single-minded (SIM) gene: Mouse cDNA structure and diencephalic expression indicate a candidate gene for Down syndrome

  Yamaki, A., Noda, S., Kudoh, J., Shindoh, N., Maeda, H., Minoshima, S., Kawasaki, K., Shimisu, Y. & Shimizu, N., 1996 7月 1, In: Genomics. 35, 1, p. 136-143 8 p.

  研究成果: Article › 査読

  • Drosophila sim protein 100%
  • Down Syndrome 93%
  • Complementary DNA 72%
  • Diencephalon 58%
  • Embryonic Structures 55%
  37 被引用数 (Scopus)

• The myocilin (MYOC) gene expression in the human trabecular meshwork

  Takahashi, H., Noda, S., Mashima, Y., Kubota, R., Ohtake, Y., Tanino, T., Kudoh, J., Minoshima, S., Oguchi, Y. & Shimizu, N., 2000 2月, In: Current Eye Research. 20, 2, p. 81-84 4 p.

  研究成果: Article › 査読

  • trabecular meshwork-induced glucocorticoid response protein 100%
  • Trabecular Meshwork 80%
  • Gene Expression 36%
  • Open Angle Glaucoma 27%
  • Photoreceptor Connecting Cilium 23%
  23 被引用数 (Scopus)

• The organization of the human immunoglobulin λ gene locus

  Kawasaki, K., Minoshima, S., Schooler, K., Kudoh, J., Asakawa, S., De Jong, P. J. & Shimizu, N., 1995, In: Genome Research. 5, 2, p. 125-135 11 p.

  研究成果: Article › 査読

  • Immunoglobulin Genes 100%
  • Genes 31%
  • Clone Cells 17%
  • Bacterial Artificial Chromosomes 15%
  • Cosmids 15%
  46 被引用数 (Scopus)

• Variants in optineurin gene and their association with tumor necrosis factor-α polymorphisms in Japanese patients with glaucoma

  Funayama, T., Ishikawa, K., Ohtake, Y., Tanino, T., Kurosaka, D., Kimura, I., Suzuki, K., Ideta, H., Nakamoto, K., Yasuda, N., Fujimaki, T., Murakami, A., Asaoka, R., Hotta, Y., Tanihara, H., Kanamoto, T., Mishima, H., Fukuchi, T., Abe, H., Iwata, T. & 4 others, Shimada, N., Kudoh, J., Shimizu, N. & Mashima, Y., 2004 12月, In: Investigative Ophthalmology and Visual Science. 45, 12, p. 4359-4367 9 p.

  研究成果: Article › 査読

  • Open Angle Glaucoma 100%
  • Glaucoma 83%
  • Tumor Necrosis Factor-alpha 62%
  • Low Tension Glaucoma 53%
  • Visual Fields 37%
  94 被引用数 (Scopus)