Papers - Shibuya, Kazunori

Finishing the Euchromatic Sequence of the Human Genome

International Human Genome Sequencing Consortium

Nature 431 ( 7011 ) 931-945 2004.10

Research paper (scientific journal), Joint Work, Accepted

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. and Shimizu, N.

Biochemical and Biophysical Research Communications 319 ( 4 ) 1181-1189 2004.07

Research paper (scientific journal), Joint Work, Accepted

Identification of Two Novel Clusters of Ultrahigh-sulfur Keratin-associated Protein (KAP) Genes on Human Chromosome 11

Yahagi, S., Shibuya, K., Obayashi, I., Masaki, H., Kurata, Y., Kudoh, J. and Shimizu, N.

Biochemical and Biophysical Research Communications 318 ( 3 ) 655-664 2004.06

Research paper (scientific journal), Joint Work, Accepted

A Cluster of 21 Keratin-associated Protein Genes within Introns of Another Gene on Human Chromosome 21q22.3

'Shibuya Kazunori, Obayashi Izumi, Asakawa Shuichi, Minoshima Shinsei, Kudoh Jun, Shimizu Nobuyoshi'

Genomics 83 ( 4 ) 679-693 2004.03

Research paper (scientific journal), Joint Work, Accepted

'Comparative Genomics of the Keratin-associated Protein (KAP) Gene Clusters in Human, Chimpanzee and Baboon'

'Shibuya Kazunori, Kudoh Jun, Obayashi Izumi, Shimizu Atsushi, Sasaki Takashi, Minoshima Shinsei, Shimizu Nobuyoshi'

Mammalian genome 15 ( 3 ) 179-192 2004.03

Research paper (scientific journal), Joint Work, Accepted

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., Portbury, K., Hardly, M., O'Leary, D., Kudoh Jun, Shibuya Kazunori, Shimizu Nobuyoshi, Kola, I., Hertzog, P.'

Gene 324 ( 1 ) 65-77 2004.01

Research paper (scientific journal), Joint Work, Accepted

疾患遺伝子の統合データを活用する、特集「DNA二重らせん構造の半世紀（２）」

'清水信義,　大坪正史,　渋谷和憲,　工藤 純,　蓑島伸生'

蛋白質核酸酵素 (共立出版)  48 ( 6 ) 762-769 2003.05

Research paper (scientific journal), Joint Work

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

Guipponi Michel, Vuagniaux Gregoire, Wattenhofer Marie, Shibuya Kazunori, Vazquez Maria, Dougherty Loretta, Scamuffa Nathalie, Guida Elizabeth, Okui Michiyo, Kudoh Jun, Rossier Colette, Hancock Manuela, Buchet Karine, Reymond Alexandre, Hummler Edith, Marzella Phillip L, Shimizu Nobuyoshi, Scott Hamish S, Antonarakis Stylianos E, Rossier Bernard C

Human molecular genetics 11 ( 23 ) 2829-2836 2002.10

Research paper (scientific journal), Joint Work

ヒト22番および21番染色体のゲノム解析と疾患関連遺伝子の単離

Kudou Jun，Shibuya Kazunori，Sasaki Takashi，Minoshima Shinsei，Shimizu Nobuyoshi

蛋白質核酸酵素 12月増刊；ゲノムサイエンスの新たなる挑戦 46 ( 16 ) 2262-2270 2001.12

Research paper (scientific journal), Joint Work

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

Yang X, Aoki Yoko, Li X, Sakamoto Osamu, Hiratsuka Masahiro, Kure Shigeo, Taheri S, Christensen E, Inui Koji, Kubota Mitsuru, Ohira Miki, Ohki Misao, Kudoh Jun, Kawasaki Kazuhiko, Shibuya Kazunori, Shintani Ai, Asakawa Shuichi, Minoshima Shinsei, Shimizu Nobuyoshi, Narisawa Kuniaki, Matsubara Yoichi, Suzuki Yoichi

Human Genetics 109 ( 5 ) 526-534 2001.11

Research paper (scientific journal), Joint Work

Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness

Ben-Yosef T, Wattenhofer M, Riazuddin S, Ahmed Z M, Scott HS, Kudoh Jun, Shibuya Kazunori, Antonarakis SE, Bonne-Tamir B, Radhakrishna U, Naz S, Ahmed Z, Riazuddin S, Pandya A, Nance WE, Wilcox ER, Friedman TB, Morell RJ

Journal of Medical Genetics 38 ( 6 ) 396-400 2001.06

Research paper (scientific journal), Joint Work

Evolutionary dynamics of the human immunoglobulinκlocus and the germline repertoire of the Vκgenes

Kawasaki Kazuhiko, Minoshima Shinsei, Nakato Eriko, Shibuya Kazunori, Shintani Ai, Asakawa Shuichi, Sasaki Takashi, Klobeck H-G, Combriato G, Zachau HG, Shimizu Nobuyoshi

European Journal of Immunology 31 ( 4 ) 1017-1028 2001.04

Research paper (scientific journal), Joint Work

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

Wattenhofer M, Shibuya Kazunori, Kudoh Jun, Lyle R, Michaud J, Rossier C, Kawasaki Kazuhiko, Asakawa Syuichi, Minoshima Shinsei, Berry A, Bonne-Tamir B, Shimizu Nobuyoshi, Antonarakis SE, Scott HS

Human Genetics 108 ( 2 ) 140-147 2001.02

Research paper (scientific journal), Joint Work

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

Scott HS, Kudoh Jun, Wattenhofer M, Shibuya Kazunori, Berry A, Chrast R, Guipponi M, Wang June, Kawasaki Kazuhiko, Asakawa Shuichi, Minoshima Shinsei, Younus F, Mehdi SQ, Radhakrishna U, Papasavvas MP, Gehrig C, Rossier C, Korostishevsky M, Gal A, Shimizu Nobuyoshi, Bonne-Tamir B, Antonarakis SE

Nature Genetics 27 ( 1 ) 59-63 2001.01

Research paper (scientific journal), Joint Work

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 Kazunori, Kawasaki Kazuhiko, Wang Jun, Asakawa Syuichi, Talior I, Bonne-Tamir B, Rossier C, Michaud J, McCabe ER, Minoshima Shinsei, Shimizu Nobuyoshi, Scott HS, Antonarakis SE

Genomics 70 ( 2 ) 190-200 2000.12

Research paper (scientific journal), Joint Work

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 Jun, Berry A, Bonne-Tamir B, Lalioti MD, Rossier C, Shibuya Kazunori, Kawasaki Kazuhiko, Asakawa Syuichi, Minoshima Shinsei, Shimizu Nobuyoshi, Antonarakis SE, Scott HS

Genomics 68 ( 1 ) 71-79 2000.08

Research paper (scientific journal), Joint Work

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 HS, Shibuya Kazunori, Kudoh Jun, Delezoide AL, El Samadi SE, Chettouh Z, Rossier C, Shimizu Nobuyoshi, Mueller F, Delabar JM, Antonarakis SE

Genomics 68 ( 1 ) 30-40 2000.08

Research paper (scientific journal), Joint Work

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 HS, Kudoh Jun, Talior I, Korostishevsky M, Wattenhofer M, Guipponi M, Barras C, Rossier C, Shibuya Kazunori, Wang Jun, Kawasaki Kazuhiko, Asakawa Syuichi, Minoshima Shinsei, Shimizu Nobuyoshi, Antonarakis S, Bonn-Tamir B

Genomics 68 ( 1 ) 22-29 2000.08

Research paper (scientific journal), Joint Work

22番染色体に含まれる高頻度反復配列の分布とその意義（特集　ヒトゲノムプロジェクトの最前線─ヒト22番染色体から学んだこと）

Shimizu Nobuyoshi，Yoshizaki Yuuko，Minoshima Shinsei, Kawasaki Kazuhiko, Sasaki Takashi, Asakawa Sfuuichi, Kudou Jun, Shintani Ai, Shibuya Kazunori, Aoki Norie, Mitsuyama Susumu

最新医学 55 ( 6 ) 1139-1144 2000.06

Research paper (scientific journal), Joint Work

序論：ヒトゲノムプロジェクトの最前線　(特集　ヒトゲノムプロジェクトの最前線─ヒト22番染色体から学んだこと)

Shimizu Nobuyoshi, Minojima Shinsei, Kawasaki Kazuhiko, Sasaki Takashi,asakawa Sfuuichi, kudou Jun, Shintani Ai, Shibuya Kzunori, Yoshizaki Yuuko, Aoki Norie, Mitsuyama Susumu

最新医学 55 ( 6 ) 1097-1098 2000.06

Research paper (scientific journal), Joint Work