Kazuhiko Kawasaki

    • 21489 Citations
    • 34 h-Index
    1988 …2019
    If you made any changes in Pure, your changes will be visible here soon.

    Research Output 1988 2019

    • 21489 Citations
    • 34 h-Index
    • 65 Article
    • 7 Review article
    • 4 Chapter
    • 3 Comment/debate
    Filter
    Article
    2019
    5 Citations (Scopus)

    Mutations in RELT cause autosomal recessive amelogenesis imperfecta

    Kim, J. W., Zhang, H., Seymen, F., Koruyucu, M., Hu, Y., Kang, J., Kim, Y. J., Ikeda, A., Kasimoglu, Y., Bayram, M., Zhang, C., Kawasaki, K., Bartlett, J. D., Saunders, T. L., Simmer, J. P. & Hu, J. C. C., Mar 1 2019, In : Clinical Genetics. 95, 3, p. 375-383 9 p.

    Research output: Contribution to journalArticle

    Amelogenesis Imperfecta
    Dental Enamel
    Mutation
    Tumor Necrosis Factor Receptors
    Incisor
    2018
    1 Citation (Scopus)

    Quantification of gene expression patterns to reveal the origins of abnormal morphogenesis

    Martínez-Abadías, N., Estivill, R. M., Tomas, J. S., Perrine, S. M., Yoon, M., Robert-Moreno, A., Swoger, J., Russo, L., Kawasaki, K., Richtsmeier, J. T. & Sharpe, J., Sep 1 2018, In : eLife. 7, e36405.

    Research output: Contribution to journalArticle

    Morphogenesis
    Gene expression
    Gene Expression
    Optical Tomography
    Acrocephalosyndactylia
    2017
    2 Citations (Scopus)

    A genomic survey of SCPP family genes in fishes provides novel insights into the evolution of fish scales

    Lv, Y., Kawasaki, K., Li, J., Li, Y., Bian, C., Huang, Y., You, X. & Shi, Q., Nov 16 2017, In : International journal of molecular sciences. 18, 11, 2432.

    Research output: Contribution to journalArticle

    Phosphoproteins
    fishes
    genes
    Fish
    calcium
    5 Citations (Scopus)

    SCPP Genes and Their Relatives in Gar: Rapid Expansion of Mineralization Genes in Osteichthyans

    Kawasaki, K., Mikami, M., Nakatomi, M., Braasch, I., Batzel, P., H. Postlethwait, J., Sato, A., Sasagawa, I. & Ishiyama, M., Nov 1 2017, In : Journal of Experimental Zoology Part B: Molecular and Developmental Evolution. 328, 7, p. 645-665 21 p.

    Research output: Contribution to journalArticle

    Lepisosteidae
    phosphoproteins
    Phosphoproteins
    mineralization
    calcium
    2016
    5 Citations (Scopus)

    Developmental and Evolutionary Significance of the Zygomatic Bone

    Heuzé, Y., Kawasaki, K., Schwarz, T., Schoenebeck, J. J. & Richtsmeier, J. T., Dec 1 2016, In : Anatomical Record. 299, 12, p. 1616-1630 15 p.

    Research output: Contribution to journalArticle

    bone
    bones
    Bone and Bones
    Skeleton
    skeleton
    8 Citations (Scopus)

    The dentin phosphoprotein repeat region and inherited defects of dentin

    Yang, J., Kawasaki, K., Lee, M., Reid, B. M., Nunez, S. M., Choi, M., Seymen, F., Koruyucu, M., Kasimoglu, Y., Estrella-Yuson, N., Lin, B. P. J., Simmer, J. P. & Hu, J. C. C., Jan 1 2016, In : Molecular Genetics and Genomic Medicine. 4, 1, p. 28-38 11 p.

    Research output: Contribution to journalArticle

    Open Access
    Dentin
    Haplotypes
    Mutation
    Dentinogenesis Imperfecta
    Dental Pulp Calcification
    178 Citations (Scopus)

    The spotted gar genome illuminates vertebrate evolution and facilitates human-teleost comparisons

    Braasch, I., Gehrke, A. R., Smith, J. J., Kawasaki, K., Manousaki, T., Pasquier, J., Amores, A., Desvignes, T., Batzel, P., Catchen, J., Berlin, A. M., Campbell, M. S., Barrell, D., Martin, K. J., Mulley, J. F., Ravi, V., Lee, A. P., Nakamura, T., Chalopin, D., Fan, S. & 41 others, Wcisel, D., Caestro, C., Sydes, J., Beaudry, F. E. G., Sun, Y., Hertel, J., Beam, M. J., Fasold, M., Ishiyama, M., Johnson, J., Kehr, S., Lara, M., Letaw, J. H., Litman, G. W., Litman, R. T., Mikami, M., Ota, T., Saha, N. R., Williams, L., Stadler, P. F., Wang, H., Taylor, J. S., Fontenot, Q., Ferrara, A., Searle, S. M. J., Aken, B., Yandell, M., Schneider, I., Yoder, J. A., Volff, J. N., Meyer, A., Amemiya, C. T., Venkatesh, B., Holland, P. W. H., Guiguen, Y., Bobe, J., Shubin, N. H., Di Palma, F., Alföldi, J., Lindblad-Toh, K. & Postlethwait, J. H., Mar 29 2016, In : Nature Genetics. 48, 4, p. 427-437 11 p.

    Research output: Contribution to journalArticle

    Vertebrates
    Genome
    Human Genome
    Genome-Wide Association Study
    MicroRNAs
    2015
    7 Citations (Scopus)

    Acute upregulation of hedgehog signaling in mice causes differential effects on cranial morphology

    Singh, N., Dutka, T., Devenney, B. M., Kawasaki, K., Reeves, R. H. & Richtsmeier, J. T., Mar 1 2015, In : DMM Disease Models and Mechanisms. 8, 3, p. 271-279 9 p.

    Research output: Contribution to journalArticle

    Hedgehogs
    Up-Regulation
    Down Syndrome
    Skeleton
    Chemical activation
    2014
    10 Citations (Scopus)

    Evolution of Klk4 and enamel maturation in eutherians

    Kawasaki, K., Hu, J. C. C. & Simmer, J. P., Sep 1 2014, In : Biological Chemistry. 395, 9, p. 1003-1013 11 p.

    Research output: Contribution to journalArticle

    Enamels
    Dental Enamel
    Tooth Eruption
    Genes
    Kallikreins
    23 Citations (Scopus)
    tooth enamel
    tetrapod
    Dental Enamel
    mineralization
    teeth
    2011
    13 Citations (Scopus)

    Molecular evolution of matrix metalloproteinase 20

    Kawasaki, K. & Suzuki, T., Dec 1 2011, In : European Journal of Oral Sciences. 119, SUPPL.1, p. 247-253 7 p.

    Research output: Contribution to journalArticle

    Matrix Metalloproteinase 20
    Molecular Evolution
    Dental Enamel
    Takifugu
    Genome
    50 Citations (Scopus)

    The evolution of milk casein genes from tooth genes before the origin of mammals

    Kawasaki, K., Lafont, A. G. & Sire, J. Y., Jul 1 2011, In : Molecular biology and evolution. 28, 7, p. 2053-2061 9 p.

    Research output: Contribution to journalArticle

    Caseins
    milk
    tooth
    Mammals
    casein
    36 Citations (Scopus)

    The SCPP gene family and the complexity of hard tissues in vertebrates

    Kawasaki, K., Aug 1 2011, In : Cells Tissues Organs. 194, 2-4, p. 108-112 5 p.

    Research output: Contribution to journalArticle

    Phosphoproteins
    Vertebrates
    Calcium
    Genes
    Tooth
    2010
    30 Citations (Scopus)

    The enamelin genes in lizard, crocodile, and frog and the pseudogene in the chicken provide new insights on enamelin evolution in tetrapods

    Al-Hashimi, N., Lafont, A. G., Delgado, S., Kawasaki, K. & Sire, J. Y., Sep 1 2010, In : Molecular biology and evolution. 27, 9, p. 2078-2094 17 p.

    Research output: Contribution to journalArticle

    Alligators and Crocodiles
    Pseudogenes
    crocodiles
    Lizards
    enamel
    2009
    60 Citations (Scopus)

    The SCPP gene repertoire in bony vertebrates and graded differences in mineralized tissues

    Kawasaki, K., Mar 3 2009, In : Development Genes and Evolution. 219, 3, p. 147-157 11 p.

    Research output: Contribution to journalArticle

    Phosphoproteins
    Vertebrates
    Calcium
    Dental Enamel
    Genes
    2008
    6 Citations (Scopus)

    Identification and characterization of integrin-binding sialoprotein (IBSP) genes in reptile and amphibian

    Shintani, S., Kamakura, N., Kobata, M., Toyosawa, S., Onishi, T., Sato, A., Kawasaki, K., Weiss, K. M. & Ooshima, T., Nov 15 2008, In : Gene. 424, 1-2, p. 11-17 7 p.

    Research output: Contribution to journalArticle

    Integrin-Binding Sialoprotein
    Reptiles
    Amphibians
    Integrins
    Glycoproteins
    2007
    49 Citations (Scopus)

    Gene duplication and the evolution of vertebrate skeletal mineralization

    Kawasaki, K., Buchanan, A. V. & Weiss, K. M., Jul 1 2007, In : Cells Tissues Organs. 186, 1, p. 7-24 18 p.

    Research output: Contribution to journalArticle

    Gene Duplication
    Phosphoproteins
    Vertebrates
    Skeleton
    Calcium
    2006
    6 Citations (Scopus)

    Reading the palimpsests of life

    Weiss, K. M. & Kawasaki, K., Nov 1 2006, In : Evolutionary anthropology. 15, 6, p. 207-211 5 p.

    Research output: Contribution to journalArticle

    2005
    55 Citations (Scopus)

    Phenogenetic drift in evolution: The changing genetic basis of vertebrate teeth

    Kawasaki, K., Suzuki, T. & Weiss, K. M., Dec 13 2005, In : Proceedings of the National Academy of Sciences of the United States of America. 102, 50, p. 18063-18068 6 p.

    Research output: Contribution to journalArticle

    Dentin
    Phosphoproteins
    Vertebrates
    Tooth
    Dental Enamel
    2004
    145 Citations (Scopus)

    Genetic basis for the evolution of vertebrate mineralized tissue

    Kawasaki, K., Suzuki, T. & Weiss, K. M., Aug 3 2004, In : Proceedings of the National Academy of Sciences of the United States of America. 101, 31, p. 11356-11361 6 p.

    Research output: Contribution to journalArticle

    Molecular Evolution
    Dental Enamel
    Vertebrates
    Phosphoproteins
    Dentin
    2003
    205 Citations (Scopus)
    Phosphoproteins
    Multigene Family
    Vertebrates
    Calcium
    Genes
    2002
    77 Citations (Scopus)

    Genomic analysis of hox clusters in the sea lamprey Petromyzon marinus

    Irvine, S. Q., Carr, J. L., Bailey, W. J., Kawasaki, K., Shimizu, N., Amemiya, C. T. & Ruddle, F. H., Apr 15 2002, In : Journal of Experimental Zoology. 294, 1, p. 47-62 16 p.

    Research output: Contribution to journalArticle

    Petromyzon marinus
    genomics
    genomic libraries
    vertebrates
    genes
    25 Citations (Scopus)

    Genomic organization of the genes GTF2IRD1, GTF2I, and Ncf1 at the mouse chromosome 5 region syntenic to the human chromosome 7q11.23 Williams syndrome critical region

    Bayarsaihan, D., Dunai, J., Greally, J. M., Kawasaki, K., Sumiyama, K., Enkhmandakh, B., Shimizu, N. & Ruddle, F. H., Jan 1 2002, In : Genomics. 79, 1, p. 137-143 7 p.

    Research output: Contribution to journalArticle

    Williams Syndrome
    Chromosomes, Human, Pair 5
    Human Chromosomes
    Exons
    Genes
    59 Citations (Scopus)

    Genomic structure and functional control of the Dlx3-7 bigene cluster

    Sumiyama, K., Irvine, S. Q., Stock, D. W., Weiss, K. M., Kawasaki, K., Shimizu, N., Shashikant, C. S., Miller, W. & Ruddle, F. H., Jan 22 2002, In : Proceedings of the National Academy of Sciences of the United States of America. 99, 2, p. 780-785 6 p.

    Research output: Contribution to journalArticle

    Genes
    Branchial Region
    Limb Buds
    Exons
    Intergenic DNA
    101 Citations (Scopus)

    The human ribosomal protein genes: Sequencing and comparative analysis of 73 genes

    Yoshihama, M., Uechi, T., Asakawa, S., Kawasaki, K., Kato, S., Higa, S., Maeda, N., Minoshima, S., Tanaka, T., Shimizu, N. & Kenmochi, N., Mar 27 2002, In : Genome research. 12, 3, p. 379-390 12 p.

    Research output: Contribution to journalArticle

    Ribosomal Proteins
    Protein Sequence Analysis
    Introns
    Genes
    Exons
    2001
    663 Citations (Scopus)

    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., Feb 15 2001, In : Nature. 409, 6822, p. 934-941 8 p.

    Research output: Contribution to journalArticle

    Human Genome
    Genome
    Bacterial Artificial Chromosomes
    Clone Cells
    57 Citations (Scopus)

    A SNP resource for human chromosome 22: Extracting dense clusters of SNPs from the genomic sequence

    Dawson, E., Chen, Y., Hunt, S., Smink, L. J., Hunt, A., Rice, K., Livingston, S., Bumpstead, S., Bruskiewich, R., Sham, P., Ganske, R., Adams, M., Kawasaki, K., Shimizu, N., Minoshima, S., Roe, B., Bentley, D. & Dunham, I., Feb 15 2001, In : Genome research. 11, 1, p. 170-178 9 p.

    Research output: Contribution to journalArticle

    Chromosomes, Human, Pair 22
    Human Chromosomes
    Single Nucleotide Polymorphism
    Restriction Fragment Length Polymorphisms
    Chromosomes
    41 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., May 2 2001, In : European Journal of Immunology. 31, 4, p. 1017-1028 12 p.

    Research output: Contribution to journalArticle

    Immunoglobulins
    Genes
    Complementarity Determining Regions
    Chromosomes, Human, Pair 22
    Pseudogenes
    15043 Citations (Scopus)

    Initial sequencing and analysis of the human genome

    Lander, E. S., Linton, L. M., Birren, B., Nusbaum, C., Zody, M. C., Baldwin, J., Devon, K., Dewar, K., Doyle, M., Fitzhugh, W., Funke, R., Gage, D., Harris, K., Heaford, A., Howland, J., Kann, L., Lehoczky, J., Levine, R., McEwan, P., McKernan, K. & 229 others, Meldrim, J., Mesirov, J. P., Miranda, C., Morris, W., Naylor, J., Raymond, C., Rosetti, M., Santos, R., Sheridan, A., Sougnez, C., Stange-Thomann, N., Stojanovic, N., Subramanian, A., Wyman, D., Rogers, J., Sulston, J., Ainscough, R., Beck, S., Bentley, D., Burton, J., Clee, C., Carter, N., Coulson, A., Deadman, R., Deloukas, P., Dunham, A., Dunham, I., Durbin, R., French, L., Grafham, D., Gregory, S., Hubbard, T., Humphray, S., Hunt, A., Jones, M., Lloyd, C., McMurray, A., Matthews, L., Mercer, S., Milne, S., Mullikin, J. C., Mungall, A., Plumb, R., Ross, M., Shownkeen, R., Sims, S., Waterston, R. H., Wilson, R. K., Hillier, L. W., McPherson, J. D., Marra, M. A., Mardis, E. R., Fulton, L. A., Chinwalla, A. T., Pepin, K. H., Gish, W. R., Chissoe, S. L., Wendl, M. C., Delehaunty, K. D., Miner, T. L., Delehaunty, A., Kramer, J. B., Cook, L. L., Fulton, R. S., Johnson, D. L., Minx, P. J., Clifton, S. W., Hawkins, T., Branscomb, E., Predki, P., Richardson, P., Wenning, S., Slezak, T., Doggett, N., Cheng, J. F., Olsen, A., Lucas, S., Elkin, C., Uberbacher, E., Frazier, M., Gibbs, R. A., Muzny, D. M., Scherer, S. E., Bouck, J. B., Sodergren, E. J., Worley, K. C., Rives, C. M., Gorrell, J. H., Metzker, M. L., Naylor, S. L., Kucherlapati, R. S., Nelson, D. L., Weinstock, G. M., Sakaki, Y., Fujiyama, A., Hattori, M., Yada, T., Toyoda, A., Itoh, T., Kawagoe, C., Watanabe, H., Totoki, Y., Taylor, T., Weissenbach, J., Heilig, R., Saurin, W., Artiguenave, F., Brottier, P., Bruls, T., Pelletier, E., Robert, C., Wincker, P., Rosenthal, A., Platzer, M., Nyakatura, G., Taudien, S., Rump, A., Smith, D. R., Doucette-Stamm, L., Rubenfield, M., Weinstock, K., Hong, M. L., Dubois, J., Yang, H., Yu, J., Wang, J., Huang, G., Gu, J., Hood, L., Rowen, L., Madan, A., Qin, S., Davis, R. W., Federspiel, N. A., Abola, A. P., Proctor, M. J., Roe, B. A., Chen, F., Pan, H., Ramser, J., Lehrach, H., Reinhardt, R., McCombie, W. R., De La Bastide, M., Dedhia, N., Blöcker, H., Hornischer, K., Nordsiek, G., Agarwala, R., Aravind, L., Bailey, J. A., Bateman, A., Batzoglou, S., Birney, E., Bork, P., Brown, D. G., Burge, C. B., Cerutti, L., Chen, H. C., Church, D., Clamp, M., Copley, R. R., Doerks, T., Eddy, S. R., Eichler, E. E., Furey, T. S., Galagan, J., Gilbert, J. G. R., Harmon, C., Hayashizaki, Y., Haussler, D., Hermjakob, H., Hokamp, K., Jang, W., Johnson, L. S., Jones, T. A., Kasif, S., Kaspryzk, A., Kennedy, S., Kent, W. J., Kitts, P., Koonin, E. V., Korf, I., Kulp, D., Lancet, D., Lowe, T. M., McLysaght, A., Mikkelsen, T., Moran, J. V., Mulder, N., Pollara, V. J., Ponting, C. P., Schuler, G., Schultz, J., Slater, G., Smit, A. F. A., Stupka, E., Szustakowki, J., Thierry-Mieg, D., Thierry-Mieg, J., Wagner, L., Wallis, J., Wheeler, R., Williams, A., Wolf, Y. I., Wolfe, K. H., Yang, S. P., Yeh, R. F., Collins, F., Guyer, M. S., Peterson, J., Felsenfeld, A., Wetterstrand, K. A., Myers, R. M., Schmutz, J., Dickson, M., Grimwood, J., Cox, D. R., Olson, M. V., Kaul, R., Raymond, C., Shimizu, N., Kawasaki, K., Minoshima, S., Evans, G. A., Athanasiou, M., Schultz, R., Patrinos, A. & Morgan, M. J., Feb 15 2001, In : Nature. 409, 6822, p. 860-921 62 p.

    Research output: Contribution to journalArticle

    Human Genome
    Human Development
    Medicine
    161 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., Jan 20 2001, In : Nature Genetics. 27, 1, p. 59-63 5 p.

    Research output: Contribution to journalArticle

    Deafness
    Peptide Hydrolases
    RNA Splice Sites
    Mutation
    Cochlea
    34 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., Jan 1 2001, In : Human genetics. 108, 2, p. 140-147 8 p.

    Research output: Contribution to journalArticle

    Drosophila Proteins
    Nuclear Proteins
    Ubiquitin
    Protein Interaction Domains and Motifs
    Nuclear Localization Signals
    25 Citations (Scopus)

    Molecular cloning of a member of the facilitative glucose transporter gene family GLUT11 (SLC2A11) and identification of transcription variants

    Sasaki, T., Minoshima, S., Shiohama, A., Shintani, A., Shimizu, A., Asakawa, S., Kawasaki, K. & Shimizu, N., Dec 21 2001, In : Biochemical and Biophysical Research Communications. 289, 5, p. 1218-1224 7 p.

    Research output: Contribution to journalArticle

    Facilitative Glucose Transport Proteins
    Cloning
    Molecular Cloning
    Transcription
    Exons
    35 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., Jan 1 2001, In : Human genetics. 109, 5, p. 526-534 9 p.

    Research output: Contribution to journalArticle

    Holocarboxylase Synthetase Deficiency
    Mutation
    Exons
    Genes
    Complementary DNA
    38 Citations (Scopus)

    The genomic structure and promoter region of the human Parkin gene

    Asakawa, S., Tsunematsu, K. I., Takayanagi, A., Sasaki, T., Shimizu, A., Shintani, A., Kawasaki, K., Mungall, A. J., Beck, S., Minoshima, S. & Shimizu, N., Jan 1 2001, In : Biochemical and Biophysical Research Communications. 286, 5, p. 863-868 6 p.

    Research output: Contribution to journalArticle

    Genetic Promoter Regions
    Genes
    5' Flanking Region
    GC Rich Sequence
    DNA sequences
    2000
    26 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., Dec 1 2000, In : Genomics. 70, 2, p. 190-200 11 p.

    Research output: Contribution to journalArticle

    Glycerol Kinase
    Organism Cloning
    Phenotype
    Mutation
    Exons
    90 Citations (Scopus)

    Hox cluster genomics in the horn shark, Heterodontus francisci

    Kim, C. B., Amemiya, C., Bailey, W., Kawasaki, K., Mezey, J., Miller, W., Minoshima, S., Shimizu, N., Wagner, G. & Ruddle, F., Feb 15 2000, In : Proceedings of the National Academy of Sciences of the United States of America. 97, 4, p. 1655-1660 6 p.

    Research output: Contribution to journalArticle

    Sharks
    Horns
    Genomics
    Homeobox Genes
    Multigene Family
    32 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., Aug 15 2000, In : Genomics. 68, 1, p. 71-79 9 p.

    Research output: Contribution to journalArticle

    Human Chromosomes
    Exons
    Genes
    Inborn Genetic Diseases
    Proteins
    172 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., May 1 2000, In : Genomics. 65, 3, p. 293-298 6 p.

    Research output: Contribution to journalArticle

    Zinc Fingers
    Genes
    Northern Blotting
    Thymus Gland
    Cysteine
    27 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., May 19 2000, In : Biochemical and Biophysical Research Communications. 271, 3, p. 693-698 6 p.

    Research output: Contribution to journalArticle

    Human Chromosomes
    Chromosomes
    Genes
    Down Syndrome
    Tissue
    10 Citations (Scopus)

    Propagation and maintenance of the 119 human immunoglobulin vλ genes and pseudogenes during evolution

    Kawasaki, K., Minoshima, S. & Shimizu, N., Aug 15 2000, In : Journal of Experimental Zoology. 288, 2, p. 120-134 15 p.

    Research output: Contribution to journalArticle

    pseudogenes
    immunoglobulins
    genes
    loci
    immunoglobulin genes
    20 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., Aug 15 2000, In : Genomics. 68, 1, p. 22-29 8 p.

    Research output: Contribution to journalArticle

    Microsatellite Repeats
    Genes
    Telomere
    Chromosomes, Human, Pair 21
    Cosmids
    843 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., May 18 2000, In : Nature. 405, 6784, p. 311-319 9 p.

    Research output: Contribution to journalArticle

    Chromosomes, Human, Pair 21
    Human Chromosomes
    Base Pairing
    Chromosomes
    Genes
    1999
    872 Citations (Scopus)

    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., Dec 2 1999, In : Nature. 402, 6761, p. 489-495 7 p.

    Research output: Contribution to journalArticle

    Chromosomes, Human, Pair 22
    Human Chromosomes
    Pseudogenes
    Human Genome
    Genes
    1998
    57 Citations (Scopus)

    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., Dec 9 1998, In : Human genetics. 103, 4, p. 386-392 7 p.

    Research output: Contribution to journalArticle

    Cyclic Nucleotides
    Phosphoric Diester Hydrolases
    Alternative Splicing
    Second Messenger Systems
    Mood Disorders
    183 Citations (Scopus)

    Molecular cloning of a novel putative Ca2+ channel protein (TRPC7) highly expressed in brain

    Nagamine, K., Kudoh, J., Minoshima, S., Kawasaki, K., Asakawa, S., Ito, F. & Shimizu, N., Nov 15 1998, In : Genomics. 54, 1, p. 124-131 8 p.

    Research output: Contribution to journalArticle

    Molecular Cloning
    Brain
    Genes
    Proteins
    Caenorhabditis elegans Proteins
    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., Dec 1 1997, In : Japanese Journal of Human Genetics. 42, 1, 1 p.

    Research output: Contribution to journalArticle

    Chromosomes, Human, Pair 21
    Human Chromosomes
    Protein Kinases
    Genes
    Down Syndrome

    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., Dec 1 1997, In : Japanese Journal of Human Genetics. 42, 1, 1 p.

    Research output: Contribution to journalArticle

    Cosmids
    Clone Cells
    Chromosomes
    Libraries
    Genetic Markers
    5 Citations (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., Jun 15 1997, In : Genomics. 42, 3, p. 528-531 4 p.

    Research output: Contribution to journalArticle

    Chromosomes, Human, Pair 21
    Genes
    Inborn Genetic Diseases
    CpG Islands
    5' Flanking Region
    6 Citations (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., Jun 9 1997, In : Biochemical and Biophysical Research Communications. 235, 1, p. 185-190 6 p.

    Research output: Contribution to journalArticle

    Human Chromosomes
    Chromosomes
    Nucleotides
    Genes
    Inborn Genetic Diseases

    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., Dec 1 1997, In : Japanese Journal of Human Genetics. 42, 1, 1 p.

    Research output: Contribution to journalArticle

    Libraries
    Clone Cells
    Genes
    Polymerase Chain Reaction
    B-Lymphoid Precursor Cells