• 12386 Citations
  • 21 h-Index
19952005

Research output per year

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Research Output

  • 12386 Citations
  • 21 h-Index
  • 27 Article
  • 2 Review article
  • 1 Letter
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Article
2005

Identification of a novel zinc finger protein gene (ZNF298) in the GAP2 of human chromosome 21q

Shibuya, K., Kudoh, J., Okui, M. & Shimizu, N., 2005 Jul 1, In : Biochemical and Biophysical Research Communications. 332, 2, p. 557-568 12 p.

Research output: Contribution to journalArticle

5 Citations (Scopus)
2004

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

Research output: Contribution to journalArticle

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

Research output: Contribution to journalArticle

9 Citations (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 Jan 7, In : Gene. 324, 1-2, p. 65-77 13 p.

Research output: Contribution to journalArticle

32 Citations (Scopus)

Finishing the euchromatic sequence of the human genome

International Human Genome Sequencing Consortium, 2004 Oct 21, In : Nature. 431, 7011, p. 931-945 15 p.

Research output: Contribution to journalArticle

Open Access
2937 Citations (Scopus)

Identification of two novel clusters of ultrahigh-sulfur keratin-associated protein genes on human chromosome 11

Yahagi, S., Shibuya, K., Obayashi, I., Masaki, H., Kurata, Y., Kudoh, J. & Shimizu, N., 2004 Jun 4, In : Biochemical and Biophysical Research Communications. 318, 3, p. 655-664 10 p.

Research output: Contribution to journalArticle

23 Citations (Scopus)

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., 2004 Jul 9, In : Biochemical and Biophysical Research Communications. 319, 4, p. 1181-1189 9 p.

Research output: Contribution to journalArticle

14 Citations (Scopus)
2002

The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro

Guipponi, M., Vuagniaux, G., Wattenhofer, M., Shibuya, K., Vazquez, M., Dougherty, L., Scamuffa, N., Guida, E., Okui, M., Rossier, C., Hancock, M., Buchet, K., Reymond, A., Hummler, E., Marzella, P. L., Kudoh, J., Shimizu, N., Scott, H. S., Antonarakis, S. E. & Rossier, B. C., 2002 Nov 1, In : Human molecular genetics. 11, 23, p. 2829-2836 8 p.

Research output: Contribution to journalArticle

121 Citations (Scopus)
2001

A physical map of the human genome

McPherson, J. D., Marra, M., Hillier, L. D., Waterston, R. H., Chinwalla, A., Wallis, J., Sekhon, M., Wylie, K., Mardis, E. R., Wilson, R. K., Fulton, R., Kucaba, T. A., Wagner-McPherson, C., Barbazuk, W. B., Gregory, S. G., Humphray, S. J., French, L., Evans, R. S., Bethel, G., Whittaker, A. & 93 others, Holden, J. L., McCann, O. T., Dunham, A., Soderlund, C., Scott, C. E., Bentley, D. R., Schuler, G., Chen, H. C., Jang, W., Green, E. D., Idol, J. R., Maduro, V. V. B., Montgomery, K. T., Lee, E., Miller, A., Emerling, S., Kucherlapati, R., Gibbs, R., Scherer, S., Gorrell, J. H., Sodergren, E., Clerc-Blankenburg, K., Tabor, P., Naylor, S., Garcia, D., de Jong, J., Catanese, J. J., Nowak, N., Osoegawa, K., Qin, S., Rowen, L., Madan, A., Dors, M., Hood, L., Trask, B., Friedman, C., Massa, H., Cheung, V. G., Kirsch, I. R., Reid, T., Yonescu, R., Weissenbach, J., Bruls, T., Heilig, R., Branscomb, E., Olsen, A., Doggett, N., Cheng, J. F., Hawkins, T., Myers, R. M., Shang, J., Ramirez, L., Schmutz, J., Velasquez, O., Dixon, K., Stone, N. E., Cox, D. R., Haussler, D., Kent, W. J., Furey, T., Rogic, S., Kennedy, S., Jones, S., Rosenthal, A., Wen, G., Schilhabel, M., Gloeckner, G., Nyakatura, G., Siebert, R., Schlegelberger, B., Korenberg, J., Chen, X. N., Fujiyama, A., Hattori, M., Toyoda, A., Yada, T., Park, H. S., Sakaki, Y., Shimizu, N., Asakawa, S., Kawasaki, K., Sasaki, T., Shintani, A., Shimizu, A., Shibuya, K., Kudoh, J., Minoshima, S., Ramser, J., Seranski, P., Hoff, C., Poustka, A., Reinhardt, R. & Lehrach, H., 2001 Feb 15, In : Nature. 409, 6822, p. 934-941 8 p.

Research output: Contribution to journalArticle

670 Citations (Scopus)

Evolutionary dynamics of the human immunoglobulin κ locus and the germline repertoire of the Vκ genes

Kawasaki, K., Minoshima, S., Nakato, E., Shibuya, K., Shintani, A., Asakawa, S., Sasaki, T., Klobeck, H. G., Combriato, G., Zachau, H. G. & Shimizu, N., 2001, In : European Journal of Immunology. 31, 4, p. 1017-1028 12 p.

Research output: Contribution to journalArticle

42 Citations (Scopus)

Insertion of β-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness

Scott, H. S., Kudoh, J., Wattenhofer, M., Shibuya, K., Berry, A., Chrast, R., Guipponi, M., Wang, J., Kawasaki, K., Asakawa, S., Minoshima, S., Younus, F., Mehdi, S. Q., Radhakrishna, U., Papasavvas, M. P., Gehrig, C., Rossier, C., Korostishevsky, M., Gal, A., Shimizu, N. & 2 others, Bonne-Tamir, B. & Antonarakis, S. E., 2001, In : Nature genetics. 27, 1, p. 59-63 5 p.

Research output: Contribution to journalArticle

171 Citations (Scopus)

Isolation and characterization of the UBASH3A gene on 21q22.3 encoding a potential nuclear protein with a novel combination of domains

Wattenhofer, M., Shibuya, K., Kudoh, J., Lyle, R., Michaud, J., Rossier, C., Kawasaki, K., Asakawa, S., Minoshima, S., Berry, A., Bonne-Tamir, B., Shimizu, N., Antonarakis, S. E. & Scott, H. S., 2001 Jan 1, In : Human Genetics. 108, 2, p. 140-147 8 p.

Research output: Contribution to journalArticle

36 Citations (Scopus)

Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency

Yang, X., Aoki, Y., Li, X., Sakamoto, O., Hiratsuka, M., Kure, S., Taheri, S., Christensen, E., Inui, K., Kubota, M., Ohira, M., Ohki, M., Kudoh, J., Kawasaki, K., Shibuya, K., Shintani, A., Asakawa, S., Minoshima, S., Shimizu, N., Narisawa, K. & 2 others, Matsubara, Y. & Suzuki, Y., 2001, In : Human genetics. 109, 5, p. 526-534 9 p.

Research output: Contribution to journalArticle

36 Citations (Scopus)
2000

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 Aug 15, In : Genomics. 68, 1, p. 30-40 11 p.

Research output: Contribution to journalArticle

15 Citations (Scopus)

Cloning and characterization of a putative human glycerol 3-phosphate permease gene (SLC37A1 or G3PP) on 21q22.3: Mutation analysis in two candidate phenotypes, DFNB10 and a glycerol kinase deficiency

Bartoloni, L., Wattenhofer, M., Kudoh, J., Berry, A., Shibuya, K., Kawasaki, K., Wang, J., Asakawa, S., Talior, I., Bonne-Tamir, B., Rossier, C., Michaud, J., McCabe, E. R. B., Minoshima, S., Shimizu, N., Scott, H. S. & Antonarakis, S. E., 2000 Dec 1, In : Genomics. 70, 2, p. 190-200 11 p.

Research output: Contribution to journalArticle

26 Citations (Scopus)

Isolation and characterization of a human chromosome 21q22.3 gene (WDR4) and its mouse homologue that code for a WD-repeat protein

Michaud, J., Kudoh, J., Berry, A., Bonne-Tamir, B., Lalioti, M. D., Rossier, C., Shibuya, K., Kawasaki, K., Asakawa, S., Minoshima, S., Shimizu, N., Antonarakis, S. E. & Scott, H. S., 2000 Aug 15, In : Genomics. 68, 1, p. 71-79 9 p.

Research output: Contribution to journalArticle

32 Citations (Scopus)

Isolation and initial characterization of a novel zinc finger gene, DNMT3L, on 21q22.3, related to the cytosine-5-methyltransferase 3 gene family

Aapola, U., Shibuya, K., Scott, H. S., Ollila, J., Vihinen, M., Heino, M., Shintani, A., Kawasaki, K., Minoshima, S., Krohn, K., Antonarakis, S. E., Shimizu, N., Kudoh, J. & Peterson, P., 2000 May 1, In : Genomics. 65, 3, p. 293-298 6 p.

Research output: Contribution to journalArticle

180 Citations (Scopus)

Isolation of two novel genes, DSCR5 and DSCR6, from Down syndrome critical region on human chromosome 21q22.2

Shibuya, K., Kudoh, J., Minoshima, S., Kawasaki, K., Asakawa, S. & Shimizu, N., 2000 May 19, In : Biochemical and Biophysical Research Communications. 271, 3, p. 693-698 6 p.

Research output: Contribution to journalArticle

27 Citations (Scopus)

Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure, and exclusion of six known genes in the region

Berry, A., Scott, H. S., Kudoh, J., Talior, I., Korostishevsky, M., Wattenhofer, M., Guipponi, M., Barras, C., Rossier, C., Shibuya, K., Wang, J., Kawasaki, K., Asakawa, S., Minoshima, S., Shimizu, N., Antonarakis, S. & Bonné-Tamir, B., 2000 Aug 15, In : Genomics. 68, 1, p. 22-29 8 p.

Research output: Contribution to journalArticle

20 Citations (Scopus)

The DNA sequence of human chromosome 21

Hattori, M., Fujiyama, A., Taylor, T. D., Watanabe, H., Yada, T., Park, H. S., Toyoda, A., Ishii, K., Totoki, Y., Choi, D. K., Soeda, E., Ohki, M., Takagi, T., Sakaki, Y., Taudien, S., Blechschmidt, K., Polley, A., Menzel, U., Delabar, J., Kumpf, K. & 43 others, Lehmann, R., Patterson, D., Reichwald, K., Rump, A., Schillhabel, M., Schudy, A., Zimmermann, W., Rosenthal, A., Kudoh, J., Shibuya, K., Kawasaki, K., Asakawa, S., Shintani, A., Sasaki, T., Nagamine, K., Mitsuyama, S., Antonarakis, S. E., Minoshima, S., Shimizu, N., Nordsiek, G., Homischer, K., Brandt, P., Scharfe, M., Schön, O., Desario, A., Reichelt, J., Kauer, G., Blöcker, 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 May 18, In : Nature. 405, 6784, p. 311-319 9 p.

Research output: Contribution to journalArticle

863 Citations (Scopus)
1999

The DNA sequence of human chromosome 22

Dunham, I., Shimizu, N., Roe, B. A., Chissoe, S., Dunham, I., Hunt, A. R., Collins, J. E., Bruskiewich, R., Beare, D. M., Clamp, M., Smink, L. J., Ainscough, R., Almeida, J. P., Babbage, A., Bagguley, C., Bailey, J., Barlow, K., Bates, K. N., Beasley, O., Bird, C. P. & 201 others, Blakey, S., Bridgeman, A. M., Buck, D., Burgess, J., Burrill, W. D., Burton, J., Carder, C., Carter, N. P., Chen, Y., Clark, G., Clegg, S. M., Cobley, V., Cole, C. G., Collier, R. E., Connor, R. E., Conroy, D., Corby, N., Coville, G. J., Cox, A. V., Davis, J., Dawson, E., Dhami, P. D., Dockree, C., Dodsworth, S. J., Durbin, R. M., Ellington, A., Evans, K. L., Fey, J. M., Fleming, K., French, L., Garner, A. A., Gilbert, J. G. R., Goward, M. E., Grafham, D., Griffiths, M. N., Hall, C., Hall, R., Hall-Tamlyn, G., Heathcott, R. W., Ho, S., Holmes, S., Hunt, S. E., Jones, M. C., Kershaw, J., Kimberley, A., King, A., Laird, G. K., Langford, C. F., Leversha, M. A., Lloyd, C., Lloyd, D. M., Martyn, I. D., Mashreghi-Mohammadi, M., Matthews, L., Mccann, O. T., Mcclay, J., Mclaren, S., Mcmurray, A. A., Milne, S. A., Mortimore, B. J., Odell, C. N., Pavitt, R., Pearce, A. V., Pearson, D., Phillimore, B. J., Phillips, S. H., Plumb, R. W., Ramsay, H., Ramsey, Y., Rogers, L., Ross, M. T., Scott, C. E., Sehra, H. K., Skuce, C. D., Smalley, S., Smith, M. L., Soderlund, C., Spragon, L., Steward, C. A., Sulston, J. E., Swann, R. M., Vaudin, M., Wall, M., Wallis, J. M., Whiteley, M. N., Willey, D., Williams, L., Williams, S., Williamson, H., Wilmer, T. E., Wilming, L., Wright, C. L., Hubbard, T., Bentley, D. R., Beck, S., Rogers, J., Shimizu, N., Minoshima, S., Kawasaki, K., Sasaki, T., Asakawa, S., Kudoh, J., Shintani, A., Shibuya, K., Yoshizaki, Y., Aoki, N., Mitsuyama, S., Roe, B. A., Chen, F., Chu, L., Crabtree, J., Deschamps, S., Do, A., Do, T., Dorman, A., Fang, F., Fu, Y., Hu, P., Hua, A., Kenton, S., Lai, H., Lao, H. I., Lewis, J., Lewis, S., Lin, S. P., Loh, P., Malaj, E., Nguyen, T., Pan, H., Phan, S., Qi, S., Qian, Y., Ray, L., Ren, Q., Shaull, S., Sloan, D., Song, L., Wang, Q., Wang, Y., Wang, Z., White, J., Willingham, D., Wu, H., Yao, Z., Zhan, M., Zhang, G., Chissoe, S., Murray, J., Miller, N., Minx, P., Fulton, R., Johnson, D., Bemis, G., Bentley, D., Bradshaw, H., Bourne, S., Cordes, M., Du, Z., Fulton, L., Goela, D., Graves, T., Hawkins, J., Hinds, K., Kemp, K., Latreille, P., Layman, D., Ozersky, P., Rohlfing, T., Scheet, P., Walker, C., Wamsley, A., Wohldmann, P., Pepin, K., Nelson, J., Korf, I., Bedell, J. A., Hillier, L., Mardis, E., Waterston, R., Wilson, R., Emanuel, B. S., Shaikh, T., Kurahashi, H., Saitta, S., Budarf, M. L., Mcdermid, H. E., Johnson, A., Wong, A. C. C., Morrow, B. E., Edelmann, L., Kim, U. J., Shizuya, H., Simon, M. I., Dumanski, J. P., Peyrard, M., Kedra, D., Seroussi, E., Fransson, I., Tapia, I., Bruder, C. E. & O'Brien, K. P., 1999 Dec 2, In : Nature. 402, 6761, p. 489-495 7 p.

Research output: Contribution to journalArticle

881 Citations (Scopus)
1998

Identification and characterization of a novel cyclic nucleotide phosphodiesterase gene (PDE9A) that maps to 21q22.3: Alternative splicing of mRNA transcripts, genomic structure and sequence

Guipponi, M., Scott, H. S., Kudoh, J., Kawasaki, K., Shibuya, K., Shintani, A., Asakawa, S., Chen, H., Lalioti, M. D., Rossier, C., Minoshima, S., Shimizu, N. & Antonarakis, S. E., 1998, In : Human genetics. 103, 4, p. 386-392 7 p.

Research output: Contribution to journalArticle

57 Citations (Scopus)
1997

One-megabase sequence analysis of the human immunoglobulin λ gene locus

Kawasaki, K., Minoshima, S., Nakato, E., Shibuya, K., Shintani, A., Schmeits, J. L., Wang, J. & Shimizu, N., 1997 Mar, In : Genome Research. 7, 3, p. 250-261 12 p.

Research output: Contribution to journalArticle

Open Access
160 Citations (Scopus)

Overexpression in Escherichia coli of chemically synthesized gene for active 0.19 α-amylase inhibitor from wheat kernel

Okuda, M., Satoh, T., Sakurai, N., Shibuya, K., Kaji, H. & Samejima, T., 1997 Nov, In : Journal of biochemistry. 122, 5, p. 918-926 9 p.

Research output: Contribution to journalArticle

9 Citations (Scopus)
1995

Human Cystatin A Is Inactivated by Engineered Truncation. The NH2-Terminal Region of the Cysteine Proteinase Inhibitor Is Essential for Expression of Its Inhibitory Activity

Shibuya, K., Kaji, H., Itoh, T., Ohyama, Y., Tsujikami, A., Tate, S. I., Takeda, A., Kumagai, I., Hirao, I., Miura, K. I., Inagaki, F. & Samejima, T., 1995 Sep, In : Biochemistry. 34, 38, p. 12185-12192 8 p.

Research output: Contribution to journalArticle

21 Citations (Scopus)

Significance of the highly conserved gly-4 residue in human cystatin A

Shibuya, K., Kaji, H., Ohyama, Y., Tate, S. I., Kainosho, M., Inagaki, F. & Samejima, T., 1995 Sep, In : Journal of biochemistry. 118, 3, p. 635-642 8 p.

Research output: Contribution to journalArticle

13 Citations (Scopus)

Solution Structure of a Human Cystatin A Variant, Cystatin A2-98 M65L, by NMR Spectroscopy. A Possible Role of the Interactions between the N- and C-Termini To Maintain the Inhibitory Active Form of Cystatin A

Tate, S. I., Ushioda, T., Utsunomiya-Tate, N., Shibuya, K., Ohyama, Y., Nakano, Y., Kaji, H., Inagaki, F., Samejima, T. & Kainosho, M., 1995 Nov, In : Biochemistry. 34, 45, p. 14637-14648 12 p.

Research output: Contribution to journalArticle

40 Citations (Scopus)