共同利用研究室(遺伝子医学研究室)

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

研究成果: Article › 査読

Open Access

20 被引用数 (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 8月, In: Journal of Dermatological Science. 91, 2, p. 228-231 4 p.

研究成果: Letter › 査読

4 被引用数 (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.

研究成果: Article › 査読

Open Access

27 被引用数 (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 7月 1, In: Nature genetics. 48, 7, p. 792-797 6 p.

研究成果: Article › 査読

212 被引用数 (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 7月 1, In: Journal of Dermatology. 42, 7, p. 710-714 5 p.

研究成果: Article › 査読

Open Access

28 被引用数 (Scopus)

2008

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

23 被引用数 (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 8月, In: Journal of Dermatological Science. 51, 2, p. 113-120 8 p.

研究成果: Article › 査読

18 被引用数 (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 6月, In: Journal of Internal Medicine. 261, 6, p. 605-610 6 p.

研究成果: Article › 査読

13 被引用数 (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 3月, In: Mammalian Genome. 15, 3, p. 179-192 14 p.

研究成果: Article › 査読

9 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

58 被引用数 (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 4月 22, In: Neurology. 60, 8, p. 1341-1344 4 p.

研究成果: Article › 査読

28 被引用数 (Scopus)

Integrated database for mutations in disease genes: MutationView/KMDB

Ohtsubo, M., Shibuya, K., Kudoh, J., Minoshima, S. & Shimizu, N., 2003 5月, In: Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme. 48, 6, p. 762-769 8 p.

研究成果: Review article › 査読

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.

研究成果: Article › 査読

36 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

110 被引用数 (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 12月, In: Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme. 46, 16 Suppl, p. 2262-2270 9 p.

研究成果: Review article › 査読

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.

研究成果: Article › 査読

18 被引用数 (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 9月 7, In: Nature. 407, 6800, p. 110 1 p.

研究成果: Comment/debate › 査読

4 被引用数 (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 10月 5, In: Biochemical and Biophysical Research Communications. 276, 3, p. 1129-1135 7 p.

研究成果: Article › 査読

27 被引用数 (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 9月, In: American Journal of Ophthalmology. 130, 3, p. 357-359 3 p.

研究成果: Article › 査読

4 被引用数 (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.

研究成果: Article › 査読

12 被引用数 (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.

研究成果: Article › 査読

14 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

124 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

41 被引用数 (Scopus)

1997

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

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 12月 1, In: Japanese Journal of Human Genetics. 42, 1, 1 p.

研究成果: Article › 査読

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 12月, In: Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme. 42, 17 Suppl, p. 2729-2736 8 p.

研究成果: Review article › 査読

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.

研究成果: Article › 査読

2 被引用数 (Scopus)

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 2月 15, In: Investigative Ophthalmology and Visual Science. 37, 3, p. S998

研究成果: Article › 査読

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.

研究成果: Article › 査読

2 被引用数 (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.

研究成果: Article › 査読

19 被引用数 (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.

研究成果: Article › 査読

12 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

46 被引用数 (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.

研究成果: Article › 査読

22 被引用数 (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.

研究成果: Article › 査読

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 11月, In: Human genetics. 92, 5, p. 519-521 3 p.

研究成果: Article › 査読

53 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

50 被引用数 (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.

研究成果: Letter › 査読

3 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

33 被引用数 (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.

研究成果: Article › 査読

Open Access

Human genome analysis using chromosome sorting

Shimizu, N., Minoshima, S., Kudoh, J. & Kawasaki, K., 1993 2月, In: Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme. 38, 3, p. 268-277 10 p.

研究成果: Review article › 査読

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 5月, In: Genomics. 13, 1, p. 109-114 6 p.

研究成果: Article › 査読

5 被引用数 (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 3月, In: Psychiatry and Clinical Neurosciences. 45, 1, p. 53-56 4 p.

研究成果: Article › 査読

7 被引用数 (Scopus)

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.

研究成果: Article › 査読

5 被引用数 (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.

研究成果: Article › 査読

55 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)

1989

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 1月, In: Somatic Cell and Molecular Genetics. 15, 1, p. 29-37 9 p.

研究成果: Article › 査読

43 被引用数 (Scopus)

1988

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