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

• Article

  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., 2004 4月, In: Genomics. 83, 4, p. 679-693 15 p.

  研究成果: Article › 査読

  • Human Chromosomes 100%
  • Keratins 91%
  • Introns 84%
  • Genes 35%
  • Multigene Family 17%
  30 被引用数 (Scopus)

• A human muscle adenine nucleotide translocator gene has four exons, is located on chromosome 4, and is differentially expressed

  Li, K., Warner, C. K., Hodge, J. A., Minoshima, S., Kudoh, J., Fukuyama, R., Maekawa, M., Shimizu, Y., Shimizu, N. & Wallace, D. C., 1989, In: Journal of Biological Chemistry. 264, 24, p. 13998-14004 7 p.

  研究成果: Article › 査読

  • Chromosomes, Human, Pair 4 100%
  • Adenine Nucleotides 93%
  • Introns 71%
  • Adenine 68%
  • Exons 62%
  110 被引用数 (Scopus)

• A human testis-specific mRNA for phosphoribosylpyrophosphate synthetase that initiates from a non-AUG codon

  Taira, M., Iizasa, T., Shimada, H., Kudoh, J., Shimizu, N. & Tatibana, M., 1990, In: Journal of Biological Chemistry. 265, 27, p. 16491-16497 7 p.

  研究成果: Article › 査読

  • Ligases 100%
  • Complementary DNA 95%
  • Codon 90%
  • Testis 81%
  • Messenger RNA 52%
  54 被引用数 (Scopus)

• Amino-terminal structure of spoOA protein and sequence homology with spoOF and spoOB proteins

  Ikeuchi, T., Kudoh, J. & Tsumasawa, S., 1986 6月 1, In: MGG Molecular & General Genetics. 203, 3, p. 371-376 6 p.

  研究成果: Article › 査読

  • Amino Acid Sequence Homology 100%
  • Bacillus subtilis 63%
  • Gene Fusion 32%
  • Codon 28%
  • Proteins 26%
  2 被引用数 (Scopus)

• Analysis of porcine optineurin and myocilin expression in trabecular meshwork cells and astrocytes from optic nerve head

  Obazawa, M., Mashima, Y., Sanuki, N., Noda, S., Kudoh, J., Shimizu, N., Oguchi, Y., Tanaka, Y. & Iwata, T., 2004 8月, In: Investigative Ophthalmology and Visual Science. 45, 8, p. 2652-2659 8 p.

  研究成果: Article › 査読

  • trabecular meshwork-induced glucocorticoid response protein 100%
  • Trabecular Meshwork 80%
  • Optic Disk 67%
  • Astrocytes 55%
  • Swine 47%
  19 被引用数 (Scopus)

• Analysis of the promoter region of human placenta-specific DSCR4 gene

  Asai, S., Yamaki, A., Kudoh, J., Shimizu, N. & Shimizu, Y., 2008 1月, In: Biochimica et Biophysica Acta - Gene Regulatory Mechanisms. 1779, 1, p. 40-50 11 p.

  研究成果: Article › 査読

  • Genetic Promoter Regions 100%
  • Placenta 96%
  • Transcription Factors 51%
  • Transcription Factor 3 50%
  • Chromosomes, Human, Pair 21 45%
  3 被引用数 (Scopus)

• An integrated map with cosmid/PAC contigs of a 4-Mb Down syndrome critical region

  Osoegawa, K., Susukida, R., Okano, S., Kudoh, J., Minoshima, S., Shimizu, N., De Jong, P. J., Groet, J., Ives, J., Lehrach, H., Nizetic, D. & Soeda, E., 1996 3月 15, In: Genomics. 32, 3, p. 375-387 13 p.

  研究成果: Article › 査読

  • Down Syndrome Critical Region 100%
  • Cosmids 77%
  • Chromosomes, Human, Pair 21 75%
  • Down Syndrome 59%
  • Trisomy 35%
  40 被引用数 (Scopus)

• A novel Cys-214-Ser mutation in the peripherin/RDS gene in a Japanese family with autosomal dominant retinitis pigmentosa

  Saga, M., Mashima, Y., Akeo, K., Oguchi, Y., Kudoh, J. & Shimizu, N., 1993 11月, In: Human genetics. 92, 5, p. 519-521 3 p.

  研究成果: Article › 査読

  • Peripherins 100%
  • Retinal Degeneration 78%
  • Retinitis Pigmentosa 77%
  • Mutation 35%
  • Genes 25%
  53 被引用数 (Scopus)

• A novel giant gene CSMD3 encoding a protein with CUB and sushi multiple domains: A candidate gene for benign adult familial myoclonic epilepsy on human chromosome 8q23.3-q24.1

  Shimizu, A., Asakawa, S., Sasaki, T., Yamazaki, S., Yamagata, H., Kudoh, J., Minoshima, S., Kondo, I. & Shimizu, N., 2003 9月 12, In: Biochemical and Biophysical Research Communications. 309, 1, p. 143-154 12 p.

  研究成果: Article › 査読

  • Myoclonic Epilepsy 100%
  • Epileptic Syndromes 91%
  • Human Chromosomes 81%
  • Mutation 60%
  • Epilepsy, Myoclonic, Benign Adult Familial, Type 1 43%
  54 被引用数 (Scopus)

• A novel homozygous Ile535Asn mutation in the rod cGMP phosphodiesterase β-subunit gene in two brothers of a Japanese family with autosomal recessive retinitis pigmentosa

  Saga, M., Mashima, Y., Akeo, K., Kudoh, J., Oguchi, Y. & Shimizu, N., 1998, In: Current Eye Research. 17, 3, p. 332-335 4 p.

  研究成果: Article › 査読

  • Retinitis Pigmentosa 100%
  • Phosphoric Diester Hydrolases 95%
  • Siblings 75%
  • Codon 53%
  • Mutation 45%
  12 被引用数 (Scopus)

• A novel mutation at codon 124 (R124L) in the BIGH3 gene is associated with a superficial variant of granular corneal dystrophy

  Mashima, Y., Nakamura, Y., Noda, K., Konishi, M., Yamada, M., Kudoh, J. & Shimizu, N., 1999 1月, In: Archives of Ophthalmology. 117, 1, p. 90-93 4 p.

  研究成果: Article › 査読

  Open Access

  • Codon 100%
  • Corneal dystrophy of Bowman layer, type 1 97%
  • Mutation 56%
  • betaIG-H3 protein 43%
  • Electron Microscopy 43%
  68 被引用数 (Scopus)

• A novel myosin-like protein (myocilin) expressed in the connecting cilium of the photoreceptor: Molecular cloning, tissue expression, and chromosomal mapping

  Kubota, R., Noda, S., Wang, Y., Minoshima, S., Asakawa, S., Kudoh, J., Mashima, Y., Oguchi, Y. & Shimizu, N., 1997 5月 1, In: Genomics. 41, 3, p. 360-369 10 p.

  研究成果: Article › 査読

  • Photoreceptor Connecting Cilium 100%
  • trabecular meshwork-induced glucocorticoid response protein 86%
  • Molecular Cloning 61%
  • Myosins 57%
  • Cytoskeletal Proteins 25%
  274 被引用数 (Scopus)

• A novel nuclear localization signal in the human single-minded proteins SIM1 and SIM2

  Yamaki, A., Kudoh, J., Shimizu, N. & Shimizu, Y., 2004 1月 16, In: Biochemical and Biophysical Research Communications. 313, 3, p. 482-488 7 p.

  研究成果: Article › 査読

  • Nuclear Localization Signals 100%
  • Protein 31%
  • Proteins 28%
  • enhanced green fluorescent protein 19%
  • Amino-Acid Residue 13%
  17 被引用数 (Scopus)

• Assessment of homozygosity levels in the mito-gynogenetic torafugu (Takifugu rubripes) by genome-wide SNP analyses

  Zhang, H., Hirose, Y., Yoshino, R., Kinoshita, S., Saito, K., Tan, E., Suzuki, Y., Shimizu, A., Okano, H., Kudoh, J., Watabe, S. & Asakawa, S., 2013 3月 4, In: Aquaculture. 380-383, p. 114-119 6 p.

  研究成果: Article › 査読

  • Takifugu rubripes 100%
  • homozygosity 74%
  • polymorphism 73%
  • genome 65%
  • single nucleotide polymorphism 64%
  6 被引用数 (Scopus)

• Assignment of the myeloperoxidase gene MPO to human chromosome 17 using somatic cell hybrids and flow-sorted chromosomes

  Kudoh, J., Minoshima, S., Hashinaka, K., Nishio, C., Yamada, M., Shimizu, Y. & Shimizu, N., 1988 9月, In: The Japanese Journal of Human Genetics. 33, 3, p. 315-324 10 p.

  研究成果: Article › 査読

  • human MPO protein 100%
  • Chromosomes, Human, Pair 17 98%
  • Hybrid Cells 94%
  • Human Chromosomes 88%
  • Peroxidase 74%
  7 被引用数 (Scopus)

• A transcript map of the candidate genes in the down syndrome critical region of human chromosome 21

  Shimizu, N., Shindoh, N., Maeda, H., Yamakf, A., Kawasaki, K., Asakawa, S., Osoegawa, K., Soeda, E., Shimizu, Y., Minoshima, S. & Kudoh, J., 1997 12月 1, In: Japanese Journal of Human Genetics. 42, 1, 1 p.

  研究成果: Article › 査読

  • Down Syndrome Critical Region 100%
  • Chromosomes, Human, Pair 21 75%
  • Human Chromosomes 65%
  • Drosophila mnb protein 54%
  • Dyrk kinase 40%

• Autoimmune regulator (AIRE) gene is expressed in human activated CD4 ⁺ T-cells and regulated by mitogen-activated protein kinase pathway

  Nagafuchi, S., Katsuta, H., Koyanagi-Katsuta, R., Yamasaki, S., Inoue, Y., Shimoda, K., Ikeda, Y., Shindo, M., Yoshida, E., Matsuo, T., Ohno, Y., Kogawa, K., Anzai, K., Kurisaki, H., Kudoh, J., Harada, M. & Shimizu, N., 2006, In: Microbiology and Immunology. 50, 12, p. 979-987 9 p.

  研究成果: Article › 査読

  • Regulator Genes 100%
  • Mitogen-Activated Protein Kinases 95%
  • Interleukin-2 64%
  • T-Lymphocytes 59%
  • p38 Mitogen-Activated Protein Kinases 49%
  17 被引用数 (Scopus)

• Autoimmune regulator is expressed in the cells regulating immune tolerance in thymus medulla

  Heino, M., Peterson, P., Kudoh, J., Nagamine, K., Lagerstedt, A., Ovod, V., Ranki, A., Rantala, I., Nieminen, M., Tuukkanen, J., Scott, H. S., Antonarakis, S. E., Shimizu, N. & Krohn, K., 1999 4月 21, In: Biochemical and Biophysical Research Communications. 257, 3, p. 821-825 5 p.

  研究成果: Article › 査読

  • Immune Tolerance 100%
  • Thymus Gland 79%
  • Type 1 Autoimmune polyendocrinopathy syndrome 34%
  • Autoimmune Polyendocrinopathies 31%
  • Lymph Nodes 29%
  232 被引用数 (Scopus)

• Autosomal dominant retinitis pigmentosa: A mutation in codon 1 81 (Glu → Lys) of the rhodopsin gene in a Japanese family

  Saga, M., Mashima, Y., Akeo, K., Oguchi, Y., Kudoh, J. & Shimizu, N., 1994, In: Ophthalmic Genetics. 15, 2, p. 61-67 7 p.

  研究成果: Article › 査読

  • Rhodopsin 100%
  • Retinitis Pigmentosa 95%
  • Codon 77%
  • Single-Stranded Conformational Polymorphism 53%
  • Vertebrate Photoreceptor Cells 49%
  22 被引用数 (Scopus)

• Binding sites on tau proteins as components for antimicrobial peptides

  Kobayashi, N., Masuda, J., Kudoh, J., Shimizu, N. & Yoshida, T., 2008 6月, In: Biocontrol Science. 13, 2, p. 49-56 8 p.

  研究成果: Article › 査読

  Open Access

  • tau Proteins 100%
  • Binding Sites 61%
  • Peptides 50%
  • Laminin Receptors 33%
  • self-defense 31%
  15 被引用数 (Scopus)

• C21orf5, a novel human chromosome 21 gene, has a Caenorhabditis elegans ortholog (pad-1) required for embryonic patterning

  Guipponi, M., Brunschwig, K., Chamoun, Z., Scott, H. S., Shibuya, K., Kudoh, J., Delezoide, A. L., El Samadi, S., Chettouh, Z., Rossier, C., Shimizu, N., Mueller, F., Delabar, J. M. & Antonarakis, S. E., 2000 8月 15, In: Genomics. 68, 1, p. 30-40 11 p.

  研究成果: Article › 査読

  • Chromosomes, Human, Pair 21 100%
  • Human Chromosomes 86%
  • Caenorhabditis elegans 84%
  • Open Reading Frames 73%
  • Genes 30%
  17 被引用数 (Scopus)

• Characterization of AOC2 gene encoding a copper-binding amine oxidase expressed specifically in retina

  Zhang, Q., Mashima, Y., Noda, S., Imamura, Y., Kudoh, J., Shimizu, N., Nishiyama, T., Umeda, S., Oguchi, Y., Tanaka, Y. & Iwata, T., 2003 10月 30, In: Gene. 318, 1-2, p. 45-53 9 p.

  研究成果: Article › 査読

  • Amine Oxidase (Copper-Containing) 100%
  • Retina 59%
  • Genes 27%
  • Amines 16%
  • human AOC3 protein 14%
  14 被引用数 (Scopus)

• Characterization of human and mouse TRPM2 genes: Identification of a novel N-terminal truncated protein specifically expressed in human striatum

  Uemura, T., Kudoh, J., Noda, S., Kanba, S. & Shimizu, N., 2005 3月 25, In: Biochemical and Biophysical Research Communications. 328, 4, p. 1232-1243 12 p.

  研究成果: Article › 査読

  • Amino-Acid Residue 100%
  • Adenosine Diphosphate Ribose 81%
  • Amino Acids 78%
  • Protein 69%
  • Genes 67%
  52 被引用数 (Scopus)

• Characterization of the human ABCG1 gene. Liver X receptor activates an internal promoter that produces a novel transcript encoding an alternative form of the protein

  Kennedy, M. A., Venkateswaran, A., Tarr, P. T., Xenarios, I., Kudoh, J., Shimizu, N. & Edwards, P. A., 2001 10月 19, In: Journal of Biological Chemistry. 276, 42, p. 39438-39447 10 p.

  研究成果: Article › 査読

  Open Access

  • Liver X Receptors 100%
  • Oxysterol 75%
  • Exons 61%
  • Oxysterols 52%
  • Response Elements 49%
  222 被引用数 (Scopus)

• Chromosomal mapping of a family of human glutamine synthetase genes: Functional gene (GLUL) on 1q25, pseudogene (GLULP) on 9p13, and three related genes (GLULL1, GLULL2, GLULL3) on 5q33, 11p15, and 11q24

  Wang, Y., Kudoh, J., Kubota, R., Asakawa, S., Minoshima, S. & Shimizu, N., 1996 10月 15, In: Genomics. 37, 2, p. 195-199 5 p.

  研究成果: Article › 査読

  • human GLUL protein 100%
  • Glutamate-Ammonia Ligase 64%
  • Bacterial Artificial Chromosomes 50%
  • Clone Cells 28%
  • Human Genome 25%
  37 被引用数 (Scopus)

• Cloning of a human homolog of the Drosophila minibrain/rat Dyrk gene from 'the Down syndrome critical region' of chromosome 21

  Shindoh, N., Kudoh, J., Maeda, H., Yamaki, A., Minoshima, S., Shimizu, Y. & Shimizu, N., 1996 8月 5, In: Biochemical and Biophysical Research Communications. 225, 1, p. 92-99 8 p.

  研究成果: Article › 査読

  • Down Syndrome Critical Region 100%
  • Chromosomes, Human, Pair 21 75%
  • Dyrk kinase 61%
  • Drosophila 53%
  • Organism Cloning 52%
  102 被引用数 (Scopus)

• Cloning of sporulation genes spo0A and spo0C of Bacillus subtilis onto ρ11 temperate bacteriophage

  Ikeuchi, T., Kudoh, J. & Kurahashi, K., 1983 1月 1, In: Journal of Bacteriology. 154, 2, p. 988-991 4 p.

  研究成果: Article › 査読

  • Bacillus subtilis 100%
  • Bacteriophages 90%
  • Organism Cloning 84%
  • Genes 36%
  • Digestion 27%
  8 被引用数 (Scopus)

• Cloning of the cDNA for a new member of the immunoglobulin superfamily (ISLR) containing Leucine-Rich Repeat (LRR)

  Nagasawa, A., Kubota, R., Imamura, Y., Nagamine, K., Wang, Y., Asakawa, S., Kudoh, J., Minoshima, S., Mashima, Y., Oguchi, Y. & Shimizu, N., 1997 9月 15, In: Genomics. 44, 3, p. 273-279 7 p.

  研究成果: Article › 査読

  • Leucine 100%
  • Organism Cloning 89%
  • Immunoglobulins 86%
  • Complementary DNA 78%
  • Proteins 35%
  30 被引用数 (Scopus)

• Cloning of two human homologs of the drosophila single-minded gene SIM1 on chromosome 6q and SIM2 on 21q within the Down syndrome chromosomal region

  Chrast, R., Scott, H. S., Chen, H., Kudoh, J., Rossier, C., Minoshma, S., Wang, Y., Shimizu, N. & Antonarakis, S. E., 1997, In: Genome Research. 7, 6, p. 615-624 10 p.

  研究成果: Article › 査読

  Open Access

  • Down Syndrome 100%
  • Drosophila 89%
  • Organism Cloning 88%
  • Chromosomes 75%
  • Genes 38%
  60 被引用数 (Scopus)

• Comparative genomics of the keratin-associated protein (KAP) gene clusters in human, chimpanzee, and baboon

  Shibuya, K., Kudoh, J., Obayashi, I., Shimizu, A., Sasaki, T., Minoshima, S. & Shimizu, N., 2004 3月, In: Mammalian Genome. 15, 3, p. 179-192 14 p.

  研究成果: Article › 査読

  • Pan troglodytes 100%
  • Papio 98%
  • Multigene Family 87%
  • Keratins 83%
  • Genomics 81%
  9 被引用数 (Scopus)

• Construction of bac/cosmid contigs for the cat eye syndrome chromosome region (22q11)

  Minoshima, S., Asakawa, S., Kawasaki, K., Wang, Y., Kudoh, J. & Shimizu, N., 1997, In: Japanese Journal of Human Genetics. 42, 1, p. 84 1 p.

  研究成果: Article › 査読

  • Schmid-Fraccaro syndrome 100%
  • Cosmids 74%
  • Clone Cells 44%
  • Chromosomes 43%
  • Libraries 18%

• Criteria for gene identification and features of genome organization: Analysis of 6.5 Mb of DNA sequence from human chromosome 21

  Slavov, D., Hattori, M., Sakaki, Y., Rosenthal, A., Shimizu, N., Minoshima, S., Kudoh, J., Yaspo, M. L., Ramser, J., Reinhardt, R., Reimer, C., Clancy, K., Rynditch, A. & Gardiner, K., 2000 4月 18, In: Gene. 247, 1-2, p. 215-232 18 p.

  研究成果: Article › 査読

  • Chromosomes, Human, Pair 21 100%
  • Human Chromosomes 86%
  • Genome 51%
  • Genes 30%
  • Exons 25%
  17 被引用数 (Scopus)

• Desmoyokin, a 680 kDa keratinocyte plasma membrane-associated protein, is homologous to the protein encoded by human gene AHNAK

  Hashimoto, T., Amagai, M., Parry, D. A. D., Dixon, T. W., Tsukita, S., Tsukita, S., Miki, K., Sakai, K., Inokuchi, Y., Kudoh, J., Shimizu, N. & Nishikawa, T., 1993, In: Journal of Cell Science. 105, 2, p. 275-286 12 p.

  研究成果: Article › 査読

  • Keratinocytes 100%
  • Blood Proteins 91%
  • Membrane Proteins 85%
  • Cell Membrane 75%
  • Genes 41%
  50 被引用数 (Scopus)

• Detailed mapping of the ERG-ETS2 interval of human chromosome 21 and comparison with the region of conserved synteny on mouse chromosome 16

  Owczarek, C. M., Portbury, K. J., Hardy, M. P., O'Leary, D. A., Kudoh, J., Shibuya, K., Shimizu, N., Kola, I. & Hertzog, P. J., 2004 1月 7, In: Gene. 324, 1-2, p. 65-77 13 p.

  研究成果: Article › 査読

  • Synteny 100%
  • Chromosomes, Human, Pair 16 94%
  • Chromosomes, Human, Pair 21 90%
  • Human Chromosomes 78%
  • RNA Splice Sites 29%
  33 被引用数 (Scopus)

• Diagnosis and molecular analysis of an atypical case of holocarboxylase synthetase deficiency

  Holme, E., Kudoh, J., Shimizu, N., Suzuki, Y., Sakamoto, O., Li, X., Aoki, Y., Hiratsuka, M. & Narisawa, K., 2000, In: European Journal of Pediatrics. 159, 1-2, p. 18-22 5 p.

  研究成果: Article › 査読

  • Holocarboxylase Synthetase Deficiency 100%
  • holocarboxylase synthetases 94%
  • Biotin 37%
  • biotin carboxylase 30%
  • Ketosis 21%
  18 被引用数 (Scopus)

• Distinct clinical phenotype and immunoreactivity in Japanese siblings with autoimmune polyglandular syndrome type 1 (APS-1) associated with compound heterozygous novel AIRE gene mutations

  Kogawa, K., Kudoh, J., Nagafuchi, S., Ohga, S., Katsuta, H., Ishibashi, H., Harada, M., Hara, T. & Shimizu, N., 2002, In: Clinical Immunology. 103, 3 I, p. 277-283 7 p.

  研究成果: Article › 査読

  • Autoimmune Polyendocrinopathies 100%
  • Regulator Genes 67%
  • Siblings 59%
  • Phenotype 39%
  • Mutation 36%
  34 被引用数 (Scopus)

• DNA diagnosis of hydatidiform mole using the polymerase chain reaction

  Fukuyama, R., Takata, M., Kudoh, J., Sakai, K., Tamura, S. & Shimizu, N., 1991 6月, In: Human genetics. 87, 2, p. 216-218 3 p.

  研究成果: Article › 査読

  • Hydatidiform Mole 100%
  • Polymerase Chain Reaction 43%
  • DNA 41%
  • 3' Flanking Region 36%
  • Early Diagnosis 20%
  21 被引用数 (Scopus)

• DNA diagnosis of Leber's hereditary optic neuropathy

  Mashima, Y., Oguchi, Y., Uemura, Y., Kudoh, J., Sakai, K. & Shimizu, N., 1990, In: Journal of Japanese Ophthalmological Society. 94, 7, p. 683-687 5 p.

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

• Expression of AIRE gene in peripheral monocyte/dendritic cell lineage

  Kogawa, K., Nagafuchi, S., Katsuta, H., Kudoh, J., Tamiya, S., Sakai, Y., Shimizu, N. & Harada, M., 2002 3月 1, In: Immunology Letters. 80, 3, p. 195-198 4 p.

  研究成果: Article › 査読

  • Cell Lineage 100%
  • Regulator Genes 98%
  • Dendritic Cells 85%
  • Monocytes 78%
  • Autoimmune Polyendocrinopathies 36%
  106 被引用数 (Scopus)

• Filaggrin loss-of-function mutations are not a predisposing factor for atopic dermatitis in an Ishigaki Island under subtropical climate

  Sasaki, T., Furusyo, N., Shiohama, A., Takeuchi, S., Nakahara, T., Uchi, H., Hirota, T., Tamari, M., Shimizu, N., Ebihara, T., Amagai, M., Furue, M., Hayashi, J. & Kudoh, J., 2014, In: Journal of Dermatological Science. 76, 1, p. 10-15 6 p.

  研究成果: Article › 査読

  • filaggrin 100%
  • Climate 79%
  • Loss of Function Mutation 78%
  • Islands 75%
  • Atopic Dermatitis 72%
  31 被引用数 (Scopus)

• Frequency of mitochondrial DNA mutations in Japanese families with Leber's Hereditary Optic Neuropathy(LHON)

  Yamada, K., Mashima, Y., Saga, M., Kudoh, J., Shimizu, N. & Oguchi, Y., 1996 2月 15, In: Investigative Ophthalmology and Visual Science. 37, 3, p. S998

  研究成果: Article › 査読

  • Leber's Hereditary Optic Atrophy 100%
  • Mitochondrial DNA 71%
  • Mutation 38%

• Fukutin-related protein gene mutated in the original kindred limb-girdle MD 2I

  Driss, A., Noguchi, S., Amouri, R., Kefi, M., Sasaki, T., Sugie, K., Souilem, S., Hayashi, Y. K., Shimizu, N., Minoshima, S., Kudoh, J., Hentati, F. & Nishino, I., 2003 4月 22, In: Neurology. 60, 8, p. 1341-1344 4 p.

  研究成果: Article › 査読

  • Muscular Dystrophy, Limb-Girdle, Type 2I 100%
  • Extremities 77%
  • Dystroglycans 76%
  • Laminin 57%
  • Extracellular Matrix 44%
  26 被引用数 (Scopus)

• Gene analysis and evaluation of the single founder effect in Japanese patients with Oguchi disease

  Saga, M., Mashima, Y., Kudoh, J., Oguchi, Y. & Shimizu, N., 2004, In: Japanese Journal of Ophthalmology. 48, 4, p. 350-352 3 p.

  研究成果: Article › 査読

  • Oguchi disease 100%
  • Founder Effect 73%
  • at-403 32%
  • Mutation 28%
  • Antigens 27%
  12 被引用数 (Scopus)

• Genetic analysis of spo0A and spo0C mutants of Bacillus subtilis with a Φ105 prophage merodiploid system

  Ikeuchi, T., Kudoh, J. & Kurahashi, K., 1985, In: Journal of Bacteriology. 163, 2, p. 411-416 6 p.

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

• Genomic organization and complete nucleotide sequence of the human PWP2 gene on chromosome 21

  Nagamine, K., Kudoh, J., Minoshima, S., Kawasaki, K., Asakawa, S., Ito, F. & Shimizu, N., 1997 6月 15, In: Genomics. 42, 3, p. 528-531 4 p.

  研究成果: Article › 査読

  • Chromosomes, Human, Pair 21 100%
  • Genes 30%
  • human PWP2 protein 27%
  • Inborn Genetic Diseases 20%
  • WD40 Repeats 16%
  5 被引用数 (Scopus)

• Genomic organization and complete nucleotide sequence of the TMEM1 gene on human chromosome 21q22.3

  Nagamine, K., Kudoh, J., Kawasaki, K., Minoshima, S., Asakawa, S., Ito, F. & Shimizu, N., 1997 6月 9, In: Biochemical and Biophysical Research Communications. 235, 1, p. 185-190 6 p.

  研究成果: Article › 査読

  • Nucleotide Sequence 100%
  • Human Chromosomes 92%
  • Disorder 69%
  • Mutation 34%
  • Protein 33%
  6 被引用数 (Scopus)

• Genomic organization of the human myocilin gene (MYOC) responsible for primary open angle glaucoma (GLC1A)

  Kubota, R., Kudoh, J., Mashima, Y., Asakawa, S., Minoshima, S., Hejtmancik, J. F., Oguchi, Y. & Shimizu, N., 1998 1月 14, In: Biochemical and Biophysical Research Communications. 242, 2, p. 396-400 5 p.

  研究成果: Article › 査読

  • trabecular meshwork-induced glucocorticoid response protein 100%
  • Glucocorticoid 78%
  • Open Angle Glaucoma 69%
  • Trabecular Meshwork 26%
  • Genes 24%
  55 被引用数 (Scopus)

• HER2 heterogeneity is associated with poor survival in HER2-positive breast cancer

  Hosonaga, M., Arima, Y., Sampetrean, O., Komura, D., Koya, I., Sasaki, T., Sato, E., Okano, H., Kudoh, J., Ishikawa, S., Saya, H. & Ishikawa, T., 2018 8月, In: International journal of molecular sciences. 19, 8, 2158.

  研究成果: Article › 査読

  • Epidermal Growth Factor 100%
  • human ERBB2 protein 70%
  • breast 60%
  • cancer 54%
  • Heterogeneity 53%
  13 被引用数 (Scopus)

• High frequency of mutations at position 11778 in mitochondrial ND4 gene in Japanese families with Leber's hereditary optic neuropathy

  Mashima, Y., Hiida, Y., Oguchi, Y., Kudoh, J. & Shimizu, N., 1993 8月, In: Human genetics. 92, 1, p. 101-102 2 p.

  研究成果: Article › 査読

  • Leber's Hereditary Optic Atrophy 100%
  • Mitochondrial Genes 86%
  • Mutation Rate 72%
  • Mutation 25%
  • Mitochondrial DNA 23%
  32 被引用数 (Scopus)

• Human and mouse ISLR (immunoglobulin superfamily containing leucine-rich repeat) genes: Genomic structure and tissue expression

  Nagasawa, A., Kudoh, J., Noda, S., Mashima, Y., Wright, A., Oguchi, Y. & Shimizu, N., 1999 10月 1, In: Genomics. 61, 1, p. 37-43 7 p.

  研究成果: Article › 査読

  • Leucine 100%
  • Immunoglobulins 86%
  • Bardet-Biedl syndrome 4 53%
  • Genes 39%
  • Retina 21%
  12 被引用数 (Scopus)