Collaborative Research Resources (Laboratory of Gene Medicine)

Research output

Research output per year 1983 1993 1995 1997 1998 2000 2018

• 47 Article
• 4 Review article
• 2 Letter
• 1 Comment/debate

Research output per year

Research output per year

Search results

• 2018

  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 Aug, In: International journal of molecular sciences. 19, 8, 2158.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Epidermal Growth Factor 100%
  • human ERBB2 protein 70%
  • breast 60%
  • cancer 54%
  • Heterogeneity 53%
  16 Citations (Scopus)

• Intragenic copy number variation within human epiplakin 1 (EPPK1) generates variation of molecular size of epiplakin

  Ishikawa, K., Furuhashi, M., Sasaki, T., Kudoh, J., Tsuchisaka, A., Hashimoto, T., Sasaki, T., Yoshioka, H., Eshima, N., Matsuda-Hirose, H., Sakai, T., Hatano, Y. & Fujiwara, S., 2018 Aug, In: Journal of Dermatological Science. 91, 2, p. 228-231 4 p.

  Research output: Contribution to journal › Letter › peer-review
  4 Citations (Scopus)
• 2017

  RNA Sequencing Analysis Reveals Interactions between Breast Cancer or Melanoma Cells and the Tissue Microenvironment during Brain Metastasis

  Sato, R., Nakano, T., Hosonaga, M., Sampetrean, O., Harigai, R., Sasaki, T., Koya, I., Okano, H., Kudoh, J., Saya, H. & Arima, Y., 2017, In: BioMed Research International. 2017, 8032910.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Intracardiac 100%
  • RNA Sequencing 91%
  • Cellular Microenvironment 69%
  • RNA Sequence Analysis 61%
  • Melanoma 45%
  25 Citations (Scopus)
• 2016

  SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7

  Narumi, S., Amano, N., Ishii, T., Katsumata, N., Muroya, K., Adachi, M., Toyoshima, K., Tanaka, Y., Fukuzawa, R., Miyako, K., Kinjo, S., Ohga, S., Ihara, K., Inoue, H., Kinjo, T., Hara, T., Kohno, M., Yamada, S., Urano, H., Kitagawa, Y., & 19 othersTsugawa, K., Higa, A., Miyawaki, M., Okutani, T., Kizaki, Z., Hamada, H., Kihara, M., Shiga, K., Yamaguchi, T., Kenmochi, M., Kitajima, H., Fukami, M., Shimizu, A., Kudo, J., Shibata, S., Okano, H., Miyake, N., Matsumoto, N. & Hasegawa, T., 2016 Jul 1, In: Nature genetics. 48, 7, p. 792-797 6 p.

  Research output: Contribution to journal › Article › peer-review

  • Chromosomes, Human, Pair 7 100%
  • Endosomes 43%
  • Mutation 43%
  • Growth 39%
  • Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16%
  197 Citations (Scopus)
• 2015

  Pathological characterization of pachydermia in pachydermoperiostosis

  Tanese, K., Niizeki, H., Seki, A., Otsuka, A., Kabashima, K., Kosaki, K., Kuwahara, M., Miyakawa, S. I., Miyasaka, M., Matsuoka, K., Okuyama, T., Shiohama, A., Sasaki, T., Kudoh, J., Amagai, M. & Ishiko, A., 2015 Jul 1, In: Journal of Dermatology. 42, 7, p. 710-714 5 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Primary Hypertrophic Osteoarthropathy 100%
  • Elastic Tissue 43%
  • Mucins 38%
  • Skin 32%
  • Edema 28%
  25 Citations (Scopus)
• 2013

  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 Mar 4, In: Aquaculture. 380-383, p. 114-119 6 p.

  Research output: Contribution to journal › Article › peer-review

  • Takifugu rubripes 100%
  • homozygosity 74%
  • polymorphism 73%
  • genome 65%
  • single nucleotide polymorphism 64%
  6 Citations (Scopus)
• 2008

  Binding sites on tau proteins as components for antimicrobial peptides

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

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • tau Proteins 100%
  • Binding Sites 61%
  • Peptides 50%
  • Laminin Receptors 33%
  • self-defense 31%
  23 Citations (Scopus)

• Sequence analysis of filaggrin gene by novel shotgun method in Japanese atopic dermatitis

  Sasaki, T., Kudoh, J., Ebihara, T., Shiohama, A., Asakawa, S., Shimizu, A., Takayanagi, A., Dekio, I., Sadahira, C., Amagai, M. & Shimizu, N., 2008 Aug, In: Journal of Dermatological Science. 51, 2, p. 113-120 8 p.

  Research output: Contribution to journal › Article › peer-review

  • filaggrin 100%
  • Firearms 78%
  • Atopic Dermatitis 72%
  • Sequence Analysis 64%
  • Mutation 58%
  18 Citations (Scopus)
• 2007

  Recurrent herpes simplex virus infection in a patient with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy associated with L29P and IVS9-1G>C compound heterozygous autoimmune regulator gene mutations

  Nagafuchi, S., Umene, K., Yamanaka, F., Oohashi, S., Shindo, M., Kurisaki, H., Kudoh, J., Shimizu, N., Hara, T. & Harada, M., 2007 Jun, In: Journal of Internal Medicine. 261, 6, p. 605-610 6 p.

  Research output: Contribution to journal › Article › peer-review

  • Autoimmune Polyendocrinopathies 100%
  • Candidiasis 75%
  • Herpes Simplex 75%
  • Regulator Genes 67%
  • Human Herpesvirus 1 47%
  12 Citations (Scopus)
• 2004

  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 Mar, In: Mammalian Genome. 15, 3, p. 179-192 14 p.

  Research output: Contribution to journal › Article › peer-review

  • Pan troglodytes 100%
  • Papio 98%
  • Multigene Family 87%
  • Keratins 83%
  • Genomics 81%
  9 Citations (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 Aug 6, In: Journal of Biological Chemistry. 279, 32, p. 33984-33991 8 p.

  Research output: Contribution to journal › Article › peer-review

  • Proteasome Endopeptidase Complex 100%
  • Fractionation 84%
  • Molecular Dynamics 70%
  • Nuclear Matrix 65%
  • Cyclic AMP Response Element-Binding Protein 60%
  41 Citations (Scopus)
• 2003

  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 Apr 22, In: Neurology. 60, 8, p. 1341-1344 4 p.

  Research output: Contribution to journal › Article › peer-review

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

• Integrated database for mutations in disease genes: MutationView/KMDB

  Ohtsubo, M., Shibuya, K., Kudoh, J., Minoshima, S. & Shimizu, N., 2003 May, In: Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme. 48, 6, p. 762-769 8 p.

  Research output: Contribution to journal › Review article › peer-review
• 2002

  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.

  Research output: Contribution to journal › Article › peer-review

  • Autoimmune Polyendocrinopathies 100%
  • Regulator Genes 67%
  • Siblings 59%
  • Phenotype 39%
  • Mutation 36%
  35 Citations (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 Mar 1, In: Immunology Letters. 80, 3, p. 195-198 4 p.

  Research output: Contribution to journal › Article › peer-review

  • Cell Lineage 100%
  • Regulator Genes 98%
  • Dendritic Cells 85%
  • Monocytes 78%
  • Autoimmune Polyendocrinopathies 36%
  52 Citations (Scopus)
• 2001

  Genome analysis and isolation of disease genes on human chromosomes 22 and 21

  Kudoh, J., Shibuya, K., Sasaki, T., Minoshima, S. & Shimizu, N., 2001 Dec, In: Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme. 46, 16 Suppl, p. 2262-2270 9 p.

  Research output: Contribution to journal › Review article › peer-review
• 2000

  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.

  Research output: Contribution to journal › Article › peer-review

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

• Erratum: The DNA sequence of human chromosome 21: The chromosome 21 mapping and sequencing consortium (Nature (2000) 405 (311-319))

  Hattori, M., Fujiyama, A., Taylor, T. D., Watanabe, H., Yada, T., Park, H. S., Toyoda, A., Ishll, K., Totoki, Y., Choi, D. K., Groner, Y., Soeda, E., Ohki, M., Takagi, T., Sakaki, Y., Taudlen, S., Blechschmidt, K., Polley, A., Menzel, U., Delabar, J., & 44 othersKumpf, K., Lehmann, R., Patterson, D., Reichwald, K., Rump, A., Schillhabel, M., Schudy, A., Zimmermann, W., Rosenthal, A., Kudoh, J., Schibuya, K., Kawasaki, K., Asakawa, S., Shintani, A., Sasaki, T., Nagamine, K., Mitsuyama, S., Antonarakis, S. E., Minoshima, S., Shimizu, N., Nordsiek, G., Hornischer, K., Brant, P., Scharfe, M., Schon, O., Desario, A., Relchelt, J., Kauer, G., Blocker, H., Ramser, J., Beck, A., Klages, S., Hennig, S., Riesselmann, L., Dagand, E., Haaf, T., Wehrmeyer, S., Borzym, K., Gardiner, K., Nizetic, D., Francis, F., Lehrach, H., Reinhardt, R. & Yaspo, M. L., 2000 Sept 7, In: Nature. 407, 6800, p. 110 1 p.

  Research output: Contribution to journal › Comment/debate › peer-review
  2 Citations (Scopus)

• Myocilin expression in the astrocytes of the optic nerve head

  Noda, S., Mashima, Y., Obazawa, M., Kubota, R., Oguchi, Y., Kudoh, J., Minoshima, S. & Shimizu, N., 2000 Oct 5, In: Biochemical and Biophysical Research Communications. 276, 3, p. 1129-1135 7 p.

  Research output: Contribution to journal › Article › peer-review

  • trabecular meshwork-induced glucocorticoid response protein 100%
  • Western Blotting 76%
  • Optic Disk 67%
  • Filament 59%
  • Astrocytes 55%
  27 Citations (Scopus)

• Novel mutation in RP2 gene in two brothers with X-linked retinitis pigmentosa and mtDNA mutation of Leber hereditary optic neuropathy who showed marked differences in clinical severity

  Mashima, Y., Saga, M., Hiida, Y., Imamura, Y., Kudoh, J. & Shimizu, N., 2000 Sept, In: American Journal of Ophthalmology. 130, 3, p. 357-359 3 p.

  Research output: Contribution to journal › Article › peer-review

  • Leber's Hereditary Optic Atrophy 100%
  • Retinitis Pigmentosa 82%
  • Mitochondrial DNA 71%
  • Siblings 62%
  • Mutation 38%
  3 Citations (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 Feb, In: Current Eye Research. 20, 2, p. 81-84 4 p.

  Research output: Contribution to journal › Article › peer-review

  • trabecular meshwork-induced glucocorticoid response protein 100%
  • Trabecular Meshwork 80%
  • Gene Expression 36%
  • Open Angle Glaucoma 27%
  • Photoreceptor Connecting Cilium 23%
  11 Citations (Scopus)
• 1998

  Molecular analysis of new Japanese patients with holocarboxylase synthetase deficiency

  Sakamoto, O., Suzuki, Y., Aoki, Y., Li, X., Hiratsuka, M., Yanagihara, K., Inui, K., Okabe, T., Yamaguchi, S., Kudoh, J., Shimizu, N. & Narisawa, K., 1998, In: Journal of Inherited Metabolic Disease. 21, 8, p. 873-874 2 p.

  Research output: Contribution to journal › Article › peer-review
  6 Citations (Scopus)

• Report of the sixth international workshop on human chromosome 21 mapping 1996

  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., Lafrenière, R., Murakami, Y., Ohira, M., Ohki, M., Patterson, D., Potier, M. C., Quackenbush, J., Reeves, R. H., & 5 othersSakaki, Y., Shimizu, N., Soeda, E., Van Broeckhoven, C. & Yaspo, M. L., 1998, In: Cytogenetics and Cell Genetics. 79, 1-2, p. 21-52 32 p.

  Research output: Contribution to journal › Article › peer-review
  9 Citations (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 Apr, In: Current Eye Research. 17, 4, p. 403-408 6 p.

  Research output: Contribution to journal › Article › peer-review

  • Leber's Hereditary Optic Atrophy 100%
  • Mitochondrial DNA 71%
  • Mutation 38%
  • Optic Atrophy 6%
  • Population 5%
  97 Citations (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 Sept, In: American Journal of Ophthalmology. 126, 3, p. 450-452 3 p.

  Research output: Contribution to journal › Article › peer-review

  • Mutation 100%
  • Genes 71%
  • Corneal dystrophy Avellino type 46%
  • Slit Lamp Microscopy 33%
  • Amyloid Plaques 27%
  4 Citations (Scopus)
• 1997

  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 Dec 1, In: Japanese Journal of Human Genetics. 42, 1, 1 p.

  Research output: Contribution to journal › Article › peer-review

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

• 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.

  Research output: Contribution to journal › Article › peer-review

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

• Human bac library: its application to mapping of 21q22.3 and isolation of disease genes

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

  Research output: Contribution to journal › Article › peer-review

  • Libraries 100%
  • Clone Cells 89%
  • Genes 45%
  • B-Lymphoid Precursor Cells 38%
  • Polymerase Chain Reaction 38%

• Physical mapping of disease-associated regions and functional analysis of pathogenic genes: gene hunting by genomic DNA sequencing and cDNA screening

  Shimizu, N., Kudoh, J., Minoshima, S., Kawasaki, K. & Asakawa, S., 1997 Dec, In: Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme. 42, 17 Suppl, p. 2729-2736 8 p.

  Research output: Contribution to journal › Review article › peer-review

• 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 othersSakaki, 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.

  Research output: Contribution to journal › Article › peer-review
• 1996

  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 Feb 15, In: Investigative Ophthalmology and Visual Science. 37, 3, p. S998

  Research output: Contribution to journal › Article › peer-review

  • Leber's Hereditary Optic Atrophy 100%
  • Mitochondrial DNA 71%
  • Mutation 38%
  • Optic Atrophy 4%
  • Enzyme Assays 3%
• 1995

  Molecular genetic analysis of Leber's hereditary optic neuropathy with the 3460 mutation in Japanese pedigrees

  Hiida, Y., Mashima, Y., Saga, M., Shuu, M., Akiya, S., Kudoh, J., Shimizu, N. & Oguchi, Y., 1995, In: Journal of Japanese Ophthalmological Society. 99, 6, p. 728-734 7 p.

  Research output: Contribution to journal › Article › peer-review

  • Leber's Hereditary Optic Atrophy 100%
  • Pedigree 74%
  • Molecular Biology 55%
  • Mutation 38%
  • Visual Acuity 23%
  2 Citations (Scopus)

• Quantitative determination of heteroplasmy in Leber's hereditary optic neuropathy by single-strand conformation polymorphism

  Mashima, Y., Saga, M., Hiida, Y., Oguchi, Y., Wakakura, M., Kudoh, J. & Shimizu, N., 1995, In: Investigative Ophthalmology and Visual Science. 36, 8, p. 1714-1720 7 p.

  Research output: Contribution to journal › Article › peer-review

  • Leber's Hereditary Optic Atrophy 100%
  • Mitochondrial DNA 71%
  • Mutation 19%
  • Optic Atrophy 14%
  • Maternal Inheritance 14%
  7 Citations (Scopus)

• Risk of false-positive molecular genetic diagnosis of Leber's hereditary optic neuropathy

  Mashima, Y., Hiida, Y., Saga, M., Oguchi, Y., Kudoh, J. & Shimizu, N., 1995, In: American Journal of Ophthalmology. 119, 2, p. 245-246 2 p.

  Research output: Contribution to journal › Article › peer-review

  • Leber's Hereditary Optic Atrophy 100%
  • Molecular Biology 55%
  • Nucleotides 54%
  • Optic Atrophy 44%
  • Mitochondrial DNA 35%
  1 Citation (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.

  Research output: Contribution to journal › Article › peer-review

  • Immunoglobulin Genes 100%
  • Genes 31%
  • Clone Cells 17%
  • Bacterial Artificial Chromosomes 15%
  • Cosmids 15%
  46 Citations (Scopus)
• 1994

  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.

  Research output: Contribution to journal › Article › peer-review

  • Rhodopsin 100%
  • Retinitis Pigmentosa 95%
  • Codon 77%
  • Single-Stranded Conformational Polymorphism 53%
  • Vertebrate Photoreceptor Cells 49%
  4 Citations (Scopus)

• Isolated Growth Hormone Deficiency Type 1A without Apparent Growth Hormone 1 Gene Deletion

  Tamai, S., Matsuo, N., Sato, S., Kudoh, J. & Shimizu, N., 1994, In: clinical pediatric endocrinology. 3, 2, p. 105-111 7 p.

  Research output: Contribution to journal › Article › peer-review

  • Pituitary Dwarfism 100%
  • Gene Deletion 72%
  • Growth Hormone 63%
  • Congenital, Hereditary, and Neonatal Diseases and Abnormalities 20%
  • Phenotype 20%
• 1993

  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 Nov, In: Human genetics. 92, 5, p. 519-521 3 p.

  Research output: Contribution to journal › Article › peer-review

  • Peripherins 100%
  • Retinal Degeneration 78%
  • Retinitis Pigmentosa 77%
  • Mutation 35%
  • Genes 25%
  18 Citations (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.

  Research output: Contribution to journal › Article › peer-review

  • Keratinocytes 100%
  • Blood Proteins 91%
  • Membrane Proteins 85%
  • Cell Membrane 75%
  • Genes 41%
  45 Citations (Scopus)

• DNA diagnosis of Leber's hereditary optic neuropathy by using dried blood specimens

  Mashima, Y., Hiida, Y., Kubota, R., Oguchi, Y., Kudoh, J. & Shimizu, N., 1993, In: American Journal of Ophthalmology. 116, 6, p. 773-774 2 p.

  Research output: Contribution to journal › Letter › peer-review

• 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 Aug, In: Human genetics. 92, 1, p. 101-102 2 p.

  Research output: Contribution to journal › Article › peer-review

  • Leber's Hereditary Optic Atrophy 100%
  • Mitochondrial Genes 86%
  • Mutation Rate 72%
  • Mutation 25%
  • Mitochondrial DNA 23%
  17 Citations (Scopus)

• Human Gene Mapping and Chromosome Sorting by Laser Technology

  Shimizu, N., Minoshima, S., Kudoh, J., Kawasaki, K., Wang, Y., Sakai, K. & Shimizu, Y., 1993, In: the keio journal of medicine. 42, 4, p. 212-216 5 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Chromosome Mapping 100%
  • Human Chromosomes 92%
  • Human Genome 85%
  • Fluorescence In Situ Hybridization 82%
  • Lasers 65%

• Human genome analysis using chromosome sorting

  Shimizu, N., Minoshima, S., Kudoh, J. & Kawasaki, K., 1993 Feb, In: Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme. 38, 3, p. 268-277 10 p.

  Research output: Contribution to journal › Review article › peer-review
• 1992

  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 May, In: Genomics. 13, 1, p. 109-114 6 p.

  Research output: Contribution to journal › Article › peer-review

  • Immunoglobulin Constant Regions 100%
  • Chromosomes, Human, Pair 22 74%
  • Firearms 63%
  • Human Chromosomes 63%
  • Clone Cells 44%
  1 Citation (Scopus)
• 1991

  Linkage Analysis of Affective Disorder Using DNA Markers on Chromosomes 11 and X

  Nanko, S., Kobayashi, M., Gamou, S., Kudoh, J., Shimizu, N., Takazawa, N., Kazamatsuri, H. & Furusho, T., 1991 Mar, In: Psychiatry and Clinical Neurosciences. 45, 1, p. 53-56 4 p.

  Research output: Contribution to journal › Article › peer-review

  • Chromosomes, Human, Pair 11 100%
  • Genetic Markers 81%
  • Mood Disorders 75%
  • X Chromosome 43%
  • Pedigree 42%

• Mitochondrial DNA analysis of Leber's hereditary optic neuropathy

  Hiida, Y., Mashima, Y., Oguchi, Y., Uemura, Y., Kudoh, J., Sakai, K. & Shimizu, N., 1991, In: Japanese Journal of Ophthalmology. 35, 1, p. 102-106 5 p.

  Research output: Contribution to journal › Article › peer-review

  • Leber's Hereditary Optic Atrophy 100%
  • Mitochondrial DNA 71%
  • Mutation 25%
  • Optic Atrophy 14%
  • Optic Nerve Diseases 14%
  1 Citation (Scopus)
• 1990

  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.

  Research output: Contribution to journal › Article › peer-review

  • Ligases 100%
  • Complementary DNA 95%
  • Codon 90%
  • Testis 81%
  • Messenger RNA 52%
  43 Citations (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.

  Research output: Contribution to journal › Article › peer-review
• 1989

  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.

  Research output: Contribution to journal › Article › peer-review

  • Chromosomes, Human, Pair 4 100%
  • Adenine Nucleotides 93%
  • Introns 71%
  • Adenine 68%
  • Exons 62%
  61 Citations (Scopus)

• Localization of human phosphoribosylpyrophosphate synthetase subunit I and II genes (PRPS1 and PRPS2) to different regions of the X chromosome and assignment of two PRPS1-related genes to autosomes

  Taira, M., Kudoh, J., Minoshima, S., Iizasa, T., Shimada, H., Shimizu, Y., Tatibana, M. & Shimizu, N., 1989 Jan, In: Somatic Cell and Molecular Genetics. 15, 1, p. 29-37 9 p.

  Research output: Contribution to journal › Article › peer-review

  • X Chromosome 100%
  • Ligases 97%
  • DNA 49%
  • Complementary DNA 42%
  • Human Chromosomes 40%
  6 Citations (Scopus)