Search Results - (Author, Cooperation:N. Kamatani)

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  1. 1
    C. Gieger ; A. Radhakrishnan ; A. Cvejic ; W. Tang ; E. Porcu ; G. Pistis ; J. Serbanovic-Canic ; U. Elling ; A. H. Goodall ; Y. Labrune ; L. M. Lopez ; R. Magi ; S. Meacham ; Y. Okada ; N. Pirastu ; R. Sorice ; A. Teumer ; K. Voss ; W. Zhang ; R. Ramirez-Solis ; J. C. Bis ; D. Ellinghaus ; M. Gogele ; J. J. Hottenga ; C. Langenberg ; P. Kovacs ; P. F. O'Reilly ; S. Y. Shin ; T. Esko ; J. Hartiala ; S. Kanoni ; F. Murgia ; A. Parsa ; J. Stephens ; P. van der Harst ; C. Ellen van der Schoot ; H. Allayee ; A. Attwood ; B. Balkau ; F. Bastardot ; S. Basu ; S. E. Baumeister ; G. Biino ; L. Bomba ; A. Bonnefond ; F. Cambien ; J. C. Chambers ; F. Cucca ; P. D'Adamo ; G. Davies ; R. A. de Boer ; E. J. de Geus ; A. Doring ; P. Elliott ; J. Erdmann ; D. M. Evans ; M. Falchi ; W. Feng ; A. R. Folsom ; I. H. Frazer ; Q. D. Gibson ; N. L. Glazer ; C. Hammond ; A. L. Hartikainen ; S. R. Heckbert ; C. Hengstenberg ; M. Hersch ; T. Illig ; R. J. Loos ; J. Jolley ; K. T. Khaw ; B. Kuhnel ; M. C. Kyrtsonis ; V. Lagou ; H. Lloyd-Jones ; T. Lumley ; M. Mangino ; A. Maschio ; I. Mateo Leach ; B. McKnight ; Y. Memari ; B. D. Mitchell ; G. W. Montgomery ; Y. Nakamura ; M. Nauck ; G. Navis ; U. Nothlings ; I. M. Nolte ; D. J. Porteous ; A. Pouta ; P. P. Pramstaller ; J. Pullat ; S. M. Ring ; J. I. Rotter ; D. Ruggiero ; A. Ruokonen ; C. Sala ; N. J. Samani ; J. Sambrook ; D. Schlessinger ; S. Schreiber ; H. Schunkert ; J. Scott ; N. L. Smith ; H. Snieder ; J. M. Starr ; M. Stumvoll ; A. Takahashi ; W. H. Tang ; K. Taylor ; A. Tenesa ; S. Lay Thein ; A. Tonjes ; M. Uda ; S. Ulivi ; D. J. van Veldhuisen ; P. M. Visscher ; U. Volker ; H. E. Wichmann ; K. L. Wiggins ; G. Willemsen ; T. P. Yang ; J. Hua Zhao ; P. Zitting ; J. R. Bradley ; G. V. Dedoussis ; P. Gasparini ; S. L. Hazen ; A. Metspalu ; M. Pirastu ; A. R. Shuldiner ; L. Joost van Pelt ; J. J. Zwaginga ; D. I. Boomsma ; I. J. Deary ; A. Franke ; P. Froguel ; S. K. Ganesh ; M. R. Jarvelin ; N. G. Martin ; C. Meisinger ; B. M. Psaty ; T. D. Spector ; N. J. Wareham ; J. W. Akkerman ; M. Ciullo ; P. Deloukas ; A. Greinacher ; S. Jupe ; N. Kamatani ; J. Khadake ; J. S. Kooner ; J. Penninger ; I. Prokopenko ; D. Stemple ; D. Toniolo ; L. Wernisch ; S. Sanna ; A. A. Hicks ; A. Rendon ; M. A. Ferreira ; W. H. Ouwehand ; N. Soranzo
    Nature Publishing Group (NPG)
    Published 2011
    Staff View
    Publication Date:
    2011-12-06
    Publisher:
    Nature Publishing Group (NPG)
    Print ISSN:
    0028-0836
    Electronic ISSN:
    1476-4687
    Topics:
    Biology
    Chemistry and Pharmacology
    Medicine
    Natural Sciences in General
    Physics
    Keywords:
    Animals ; Blood Platelets/*cytology/metabolism ; Cell Size ; Drosophila Proteins/genetics ; Drosophila melanogaster/genetics ; Europe ; Gene Expression Profiling ; Gene Silencing ; Genome, Human/genetics ; Genome-Wide Association Study ; Hematopoiesis/*genetics ; Humans ; Megakaryocytes/*cytology/metabolism ; Platelet Count ; Protein Interaction Maps ; Transcription, Genetic/genetics ; Zebrafish/genetics ; Zebrafish Proteins/genetics
    Published by:
    http://www.nature.com/

    Latest Papers from Table of Contents or Articles in Press
  2. 2
    Okamoto, H. ; Kamatani, N.

    Oxford, UK : Munksgaard International Publishers
    Published 2005
    Staff View
    ISSN:
    1398-9995
    Source:
    Blackwell Publishing Journal Backfiles 1879-2005
    Topics:
    Medicine
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1111/j.1398-9995.2005.00847.x

    Articles: DFG German National Licenses
  3. 3
    Kaneko, K. ; Fujimori, S. ; Kamatani, N. ; Akaoka, I.

    Amsterdam : Elsevier
    Staff View
    ISSN:
    0304-4165
    Keywords:
    (Human urine) ; Methylthioadenosine ; Methylthioadenosine phosphorylase ; Polyamine byproduct
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Biology
    Chemistry and Pharmacology
    Medicine
    Physics
    Type of Medium:
    Electronic Resource
    URL:
    http://linkinghub.elsevier.com/retrieve/pii/0304-4165(84)90158-2

    Articles: DFG German National Licenses
  4. 4
    Staff View
    ISSN:
    0009-8981
    Keywords:
    2,8-Dihydroxyadenine lithiasis ; Adenine phosphoribosyltransferase deficiency ; Electrochemical detection ; High-performance liquid chromatography
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Medicine
    Type of Medium:
    Electronic Resource
    URL:
    http://linkinghub.elsevier.com/retrieve/pii/0009-8981(89)90323-9

    Articles: DFG German National Licenses
  5. 5
    Staff View
    ISSN:
    0009-8981
    Keywords:
    Allele specific oligonucleotide ; Avidin-biotin ; Chemiluminescence ; Dot-blot hybridization ; Germline mutation ; Purine metabolism ; Urolithiasis
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Medicine
    Type of Medium:
    Electronic Resource
    URL:
    http://linkinghub.elsevier.com/retrieve/pii/0009-8981(91)90290-S

    Articles: DFG German National Licenses
  6. 6
    Staff View
    ISSN:
    0009-8981
    Keywords:
    Adenine phosphoribosyltransferase ; High-performance liquid chromatography ; Hypoxanthine phosphoribosyltransferase
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Medicine
    Type of Medium:
    Electronic Resource
    URL:
    http://linkinghub.elsevier.com/retrieve/pii/0009-8981(87)90138-0

    Articles: DFG German National Licenses
  7. 7
    Staff View
    ISSN:
    0009-8981
    Keywords:
    Gout ; High-performance liquid chromatography ; Phosphoribosylpyrophosphate synthetase ; Pyrimidine 5'-nucleotidase deficiency
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Medicine
    Type of Medium:
    Electronic Resource
    URL:
    http://linkinghub.elsevier.com/retrieve/pii/0009-8981(91)90286-L

    Articles: DFG German National Licenses
  8. 8
    Staff View
    ISSN:
    0027-5107
    Keywords:
    Adenine phosphoribosyltransferase gene ; DNA sequence analysis ; Germline mutations ; Hot spots, mutational ; Human APRT ; PCR amplification ; Somatic mutations, in vivo
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Biology
    Medicine
    Type of Medium:
    Electronic Resource
    URL:
    http://linkinghub.elsevier.com/retrieve/pii/0027-5107(93)90014-7

    Articles: DFG German National Licenses
  9. 9
    Carson, D.A. ; Willis, E.H. ; Kamatani, N.

    Amsterdam : Elsevier
    Staff View
    ISSN:
    0006-291X
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Biology
    Chemistry and Pharmacology
    Physics
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1016/0006-291X(83)91476-6

    Articles: DFG German National Licenses
  10. 10
    Staff View
    ISSN:
    0006-291X
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Biology
    Chemistry and Pharmacology
    Physics
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1016/0006-291X(86)90324-4

    Articles: DFG German National Licenses
  11. 11
    Kamatani, N. ; Willis, E.H. ; Carson, D.A.

    Amsterdam : Elsevier
    Staff View
    ISSN:
    0006-291X
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Biology
    Chemistry and Pharmacology
    Physics
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1016/0006-291X(82)91396-1

    Articles: DFG German National Licenses
  12. 12
    Kamatani, N. ; Willis, E.H. ; Carson, D.A.

    Amsterdam : Elsevier
    Staff View
    ISSN:
    0167-4889
    Keywords:
    (Murine lymphoid cell) ; Adenosine toxicity ; Adenosylhomocysteine hydrolase ; Enzyme deficiency
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Biology
    Chemistry and Pharmacology
    Medicine
    Physics
    Type of Medium:
    Electronic Resource
    URL:
    http://linkinghub.elsevier.com/retrieve/pii/0167-4889(83)90072-1

    Articles: DFG German National Licenses
  13. 13
    Staff View
    ISSN:
    0304-4165
    Keywords:
    (Human cell) ; Chloroadenosine ; Cytotoxicity ; Methylmercaptopurine riboside ; Phosphorylation
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Biology
    Chemistry and Pharmacology
    Medicine
    Physics
    Type of Medium:
    Electronic Resource
    URL:
    http://linkinghub.elsevier.com/retrieve/pii/0304-4165(84)90318-0

    Articles: DFG German National Licenses
  14. 14
    Kamatani, N. ; Carson, D.A.

    Amsterdam : Elsevier
    Staff View
    ISSN:
    0304-4165
    Keywords:
    (Human lymphoblast) ; Adenine formation ; Polyamine synthesis
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Biology
    Chemistry and Pharmacology
    Medicine
    Physics
    Type of Medium:
    Electronic Resource
    URL:
    http://linkinghub.elsevier.com/retrieve/pii/0304-4165(81)90024-6

    Articles: DFG German National Licenses
  15. 15
    Staff View
    ISSN:
    0304-4165
    Keywords:
    (Lymphoblast cytosol) ; 1-β-D-Arabinofuranosylcytosine ; 9-β-D-Arabinofuranosyladenine ; ATP-activated IMPase ; Deoxyadenosine ; dAMP 5'-nucleotidase
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Biology
    Chemistry and Pharmacology
    Medicine
    Physics
    Type of Medium:
    Electronic Resource
    URL:
    http://linkinghub.elsevier.com/retrieve/pii/0304-4165(86)90159-5

    Articles: DFG German National Licenses
  16. 16
    Nishida, Y. ; Kamatani, N. ; Tanimoto, K. ; Akaoka, I.
    Springer
    Published 1979
    Staff View
    ISSN:
    1420-908X
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Notes:
    Abstract Allopurinol-riboside competitively inhibits the action of purine nucleoside phosphorylase on inosine in vitro with aK i of 277 μmol. After simple incubation of allopurinol-riboside with PNP, allopurinol was not formed. Lymphocyte blastogenesis induced by PHA and Con A was significantly suppressed by allopurinol-riboside in a concentration-dependent manner. When LPS was used as a mitogen, the inhibition of allopurinol-riboside on lymphocyte proliferation was less marked. Humoral immunity was not suppressed by allopurinol-riboside. In contrast, cellular immunity was significantly suppressed by allopurinol-riboside in vivo. These results suggested that allopurinol-riboside is a drug which produces a model of PNP deficiency, and that it may be a useful inhibitor of cellular immunity.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF01968126

    Articles: DFG German National Licenses
  17. 17
    Staff View
    ISSN:
    1432-1203
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Biology
    Medicine
    Notes:
    Abstract Adenine phosphoribosyltransferase (APRT) is a purine metabolic enzyme and a homozygous deficiency in this enzyme causes 2,8-dihydroxyadenine urolithiasis. Various germline abnormalities have been described, but we report here a unique type of germline mutation in a homozygous individual (SY) who had excreted 2,8-dihydroxyadenine crystals. In SY, TCA was substituted for the physiological stop codon TGA. This base substitution generates a new HinfI restriction site, and, using the polymerase chain reaction and subsequent digestion by this enzyme, it was confirmed that SY is homozygous for the base substitution. This base change is unique in that it generates an open reading frame that extends to the poly(A) addition site. The amount of mRNA in transformed B cells from SY was approximately a quarter of that in control subjects and no APRT proteins were detected. In eukaryotes, unlike in prokaryotes, no rescue systems for defective polypeptide termination caused by a missing stop codon have been found. Therefore, the outcome of the defect of SY is unclear from present knowledge about termination of polypeptide synthesis. Investigations into the mechanisms of the absence of protein in the cells of SY may lead to a better understanding of the physiological and nonphysiological termination of polypeptide synthesis in eukaryotic cells.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/s004390050677

    Articles: DFG German National Licenses
  18. 18
    Staff View
    ISSN:
    1432-1203
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Biology
    Medicine
    Notes:
    Abstract. To examine whether polymorphism at the SAA loci is associated with the development of amyloid protein A (AA)-amyloidosis, we determined the genotypes at the SAA1 and SAA2 loci in 43 AA-amyloidosis patients (amyloidosis population) and 77 patients with rheumatoid arthritis (RA) who had been ill for less than 5 years (early RA population). We also compared the frequencies of the genotypes at the SAA1 locus among 90 Korean, 95 Taiwanese, and 103 Japanese healthy subjects. The frequencies of the γ/γ genotype and γ alleles at the SAA1 locus were significantly higher in the amyloidosis population than in the early RA population (34.9% versus 7.8%, and 58.1% versus 33.8%, χ2 test P=0.0001). The frequencies of the γ allele at the SAA1 locus in Koreans, Taiwanese, and Japanese were 41.6%, 35.6%, and 37.4%, respectively. The length of the latent period of AA-amyloidosis was significantly longer in the patients with smaller numbers of the γ allele at the SAA1 locus (Spearman's correlation coefficient: –0.42, P〈0.05). On the other hand, the mean C-reactive protein (CRP) level during 2 years prior to the diagnosis of AA-amyloidosis was significantly higher in the patients with larger numbers of the γ allele at the SAA1 locus (Spearman's correlation coefficient: 0.34, P〈0.05). No significant association was found between amyloidosis and polymorphism at the SAA2 locus. We postulate that the allele SAA1 γ renders an RA patient susceptible to amyloidosis, possibly by affecting the severity of inflammation in RA.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/s004399900150

    Articles: DFG German National Licenses
  19. 19
    Staff View
    ISSN:
    1432-1203
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Biology
    Medicine
    Notes:
    Abstract The incidence of adenine phosphoribosyltransferase (APRT) deficiency is higher among Japanese nationals than among other ethnic groups, and the most common mutation (APRT*J, ATG to ACG mutation at codon 136) accounts for 68% of the disease-causing genes among Japanese. To investigate the origin of these mutations, we studied the geographical distribution of the mutant genes in Japan. The APRT*J mutation is distributed nearly uniformly in the four main islands of Japan and Okinawa, suggesting a very early origin. The products of PCR amplification between positions 2344 and 2750 of the genomic APRT sequence were examined by SSCP analysis in random blood samples from Japanese, Korean, and Taiwanese nationals. Among 955 random Japanese blood samples, 7 (0.73%) were heterozygous for the APRT*J mutation, giving a calculated heterozygote frequency of 1.1% among Japanese for the entire APRT deficiency. None of 231 Taiwanese samples contained heterozygotes for the APRT*J mutation, while 2 (0.53%) of 356 Korean samples were heterozygous. In addition to the APRT*J sequence, a total of five variant sequences was found. Sequencing one variant revealed a base substitution in intron 4, suggesting therefore that they are harmless mutations. Since the APRT*J mutation is present in Koreans and Okinawans who share ancestors only before the Yayoi era (third century bc to third century ad), the origin of the APRT*J mutation predates 300 bc.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/s004390050266

    Articles: DFG German National Licenses
  20. 20
    Staff View
    ISSN:
    1432-1203
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Biology
    Medicine
    Notes:
    Summary More than half of the Japanese patients with 2,8-dihydroxyadenine urolithiasis only partially lack adenine phosphoribosyltransferase (APRT), while all the Caucasian patients with the same disease completely lack the enzyme. APRT activities in healthy heterozygotes for the complete APRT deficiencies were at the same levels as the Japanese patients, and simple enzyme assay does not distinguish between these two conditions. We have previously shown, using viable T-cells, that the enzyme was non-functional in the cells from the Japanese patients although they contain considerable APRT activities in the cell extracts. In the present investigations, we devised a rapid method using erythrocytes for the diagnosis of partial APRT deficiencies accompanied by severe impairment in adenine metabolism causing 2,8-dihydroxyadenine lithiasis. Thus, erythrocytes from three different families with 2,8-dihydroxyadenine urolithiasis associated with partial APRT deficiencies incorporated only minimal amounts of radioactive adenine, while normal erythrocytes incorporated significant amounts. These data indicate that severe impairment in adenine metabolism is shown not only in viable T-cells but also in viable erythrocytes. The present procedures provide a rapid method suitable for routine clinical use for the diagnosis of partial APRT deficiencies causing 2,8-dihydroxyadenine lithiasis.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF00283376

    Articles: DFG German National Licenses