N Kamatani

Summary

Affiliation: University of Tokyo
Country: Japan

Publications

  1. ncbi request reprint The origin of the most common mutation of adenine phosphoribosyltransferase among Japanese goes back to a prehistoric era
    N Kamatani
    Institute of Rheumatology, Tokyo Women s Medical College, Japan
    Hum Genet 98:596-600. 1996
  2. ncbi request reprint Similarity of in vivo somatic mutations at an autosomal adenine phosphoribosyltransferase locus between T- and B-cells in human peripheral blood
    M Hakoda
    Institute of Rheumatology, Tokyo Women s Medical College, Japan
    Mutat Res 357:107-13. 1996
  3. ncbi request reprint Anti-glucose-6-phosphate isomerase, anti-cyclic citrullinated peptide antibodies and HLA-DRB1 genotypes in Japanese patients with early rheumatoid arthritis
    T Furuya
    Institute of Rheumatology, Tokyo Women s Medical University, Tokyo, Japan
    Clin Exp Rheumatol 26:918-21. 2008
  4. ncbi request reprint Mature form of interleukin 18 is expressed in rheumatoid arthritis synovial tissue and contributes to interferon-gamma production by synovial T cells
    M Tanaka
    Institute of Rheumatology, Tokyo Women's Medical University, Japan
    J Rheumatol 28:1779-87. 2001
  5. ncbi request reprint Influence of genotypes at SAA1 and SAA2 loci on the development and the length of latent period of secondary AA-amyloidosis in patients with rheumatoid arthritis
    M Moriguchi
    Institute of Rheumatology, Tokyo Women s Medical University, School of Medicine, Japan
    Hum Genet 105:360-6. 1999
  6. ncbi request reprint Differential association of HLA-DRB1 alleles in Japanese patients with early rheumatoid arthritis in relationship to autoantibodies to cyclic citrullinated peptide
    T Furuya
    Institute of Rheumatology, Tokyo Women s Medical University, Tokyo, Japan
    Clin Exp Rheumatol 25:219-24. 2007
  7. ncbi request reprint Haplotype analysis revealed no association between the PTPN22 gene and RA in a Japanese population
    K Ikari
    Institute of Rheumatology, Tokyo Women s Medical University, 10 22 Kawada, Tokyo 162 0054, Japan
    Rheumatology (Oxford) 45:1345-8. 2006
  8. ncbi request reprint Effect of matrix metalloproteinase-3 functional SNP on serum matrix metalloproteinase-3 level and outcome measures in Japanese RA patients
    S Tsukahara
    Institute of Rheumatology, Tokyo Women s Medical University, 10 22 Kawada, Shinjuku, Tokyo 162 0054, Japan
    Rheumatology (Oxford) 47:41-4. 2008
  9. doi request reprint Low disease activity state with corticosteroid may not represent 'true' low disease activity state in patients with rheumatoid arthritis
    N Iikuni
    Institute of Rheumatology, Tokyo Women s Medical University, 10 22 Kawada cho, Shinjuku ku, Tokyo 162 0054, Japan
    Rheumatology (Oxford) 47:519-21. 2008
  10. ncbi request reprint A germline mutation abolishing the original stop codon of the human adenine phosphoribosyltransferase (APRT) gene leads to complete loss of the enzyme protein
    A Taniguchi
    Institute of Rheumatology, Tokyo Women s Medical College, Japan
    Hum Genet 102:197-202. 1998

Collaborators

Detail Information

Publications65

  1. ncbi request reprint The origin of the most common mutation of adenine phosphoribosyltransferase among Japanese goes back to a prehistoric era
    N Kamatani
    Institute of Rheumatology, Tokyo Women s Medical College, Japan
    Hum Genet 98:596-600. 1996
    ..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...
  2. ncbi request reprint Similarity of in vivo somatic mutations at an autosomal adenine phosphoribosyltransferase locus between T- and B-cells in human peripheral blood
    M Hakoda
    Institute of Rheumatology, Tokyo Women s Medical College, Japan
    Mutat Res 357:107-13. 1996
    ..Our observations suggest that both the frequency and the mode of in vivo somatic mutations occurring spontaneously at general autosomal loci in B-cells are similar to those in T-cells...
  3. ncbi request reprint Anti-glucose-6-phosphate isomerase, anti-cyclic citrullinated peptide antibodies and HLA-DRB1 genotypes in Japanese patients with early rheumatoid arthritis
    T Furuya
    Institute of Rheumatology, Tokyo Women s Medical University, Tokyo, Japan
    Clin Exp Rheumatol 26:918-21. 2008
    ..Our goal was to evaluate the associations of antibodies (Abs) to glucose-6-phosphate isomerase (GPI) with Abs to cyclic citrullinated peptide (CCP) and HLA-DRB1 genotypes in Japanese patients with early rheumatoid arthritis (RA)...
  4. ncbi request reprint Mature form of interleukin 18 is expressed in rheumatoid arthritis synovial tissue and contributes to interferon-gamma production by synovial T cells
    M Tanaka
    Institute of Rheumatology, Tokyo Women's Medical University, Japan
    J Rheumatol 28:1779-87. 2001
    ..CONCLUSION: These findings suggest that mature IL-18 is expressed in RA synovia and contributes to the production of IFN-gamma by infiltrating T cells...
  5. ncbi request reprint Influence of genotypes at SAA1 and SAA2 loci on the development and the length of latent period of secondary AA-amyloidosis in patients with rheumatoid arthritis
    M Moriguchi
    Institute of Rheumatology, Tokyo Women s Medical University, School of Medicine, Japan
    Hum Genet 105:360-6. 1999
    ..We postulate that the allele SAA1gamma renders an RA patient susceptible to amyloidosis, possibly by affecting the severity of inflammation in RA...
  6. ncbi request reprint Differential association of HLA-DRB1 alleles in Japanese patients with early rheumatoid arthritis in relationship to autoantibodies to cyclic citrullinated peptide
    T Furuya
    Institute of Rheumatology, Tokyo Women s Medical University, Tokyo, Japan
    Clin Exp Rheumatol 25:219-24. 2007
    ..To evaluate the role of HLA-DRB1 genotypes and antibodies to cyclic citrullinated peptides (anti-CCP antibodies) in the development and radiographic progression of Japanese patients with rheumatoid arthritis (RA)...
  7. ncbi request reprint Haplotype analysis revealed no association between the PTPN22 gene and RA in a Japanese population
    K Ikari
    Institute of Rheumatology, Tokyo Women s Medical University, 10 22 Kawada, Tokyo 162 0054, Japan
    Rheumatology (Oxford) 45:1345-8. 2006
    ..Because the gene confers an impact on autoimmune diseases, we attempt to explore an association between PTPN22 gene and RA in a Japanese population without restricting to the SNP, R620W...
  8. ncbi request reprint Effect of matrix metalloproteinase-3 functional SNP on serum matrix metalloproteinase-3 level and outcome measures in Japanese RA patients
    S Tsukahara
    Institute of Rheumatology, Tokyo Women s Medical University, 10 22 Kawada, Shinjuku, Tokyo 162 0054, Japan
    Rheumatology (Oxford) 47:41-4. 2008
    ..We attempt to determine whether the MMP-3 promoter polymorphism is associated with serum titre of MMP-3, disease activity and severity in Japanese RA patients...
  9. doi request reprint Low disease activity state with corticosteroid may not represent 'true' low disease activity state in patients with rheumatoid arthritis
    N Iikuni
    Institute of Rheumatology, Tokyo Women s Medical University, 10 22 Kawada cho, Shinjuku ku, Tokyo 162 0054, Japan
    Rheumatology (Oxford) 47:519-21. 2008
    ..Corticosteroids constitute one of the most common treatments of RA. The purpose of this study is to investigate whether long-term corticosteroid use suppresses the progression of disability in RA patients with low disease activity state...
  10. ncbi request reprint A germline mutation abolishing the original stop codon of the human adenine phosphoribosyltransferase (APRT) gene leads to complete loss of the enzyme protein
    A Taniguchi
    Institute of Rheumatology, Tokyo Women s Medical College, Japan
    Hum Genet 102:197-202. 1998
    ..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...
  11. ncbi request reprint Responsiveness of peripheral blood B cells to recombinant CD40 ligand in patients with systemic lupus erythematosus
    M Harigai
    Institute of Rheumatology, Tokyo Women s Medical University, Japan
    Lupus 8:227-33. 1999
    ..To investigate the immunopathological significance of CD40/CD40 ligand system for B cell hyperactivation in SLE patients, the expression and the function of CD40 on B cells were compared with those of normal controls...
  12. ncbi request reprint Increased CD40 expression on muscle cells of polymyositis and dermatomyositis: role of CD40-CD40 ligand interaction in IL-6, IL-8, IL-15, and monocyte chemoattractant protein-1 production
    T Sugiura
    Institute of Rheumatology, Tokyo Women s Medical University, Tokyo, Japan
    J Immunol 164:6593-600. 2000
    ..These results suggest that interaction between T cells and muscle cells via the CD40-CD40L system contributes to the immunopathogenesis of PM/DM by augmenting inflammation via cytokine production by the muscle cells...
  13. ncbi request reprint A novel single-nucleotide polymorphism at the 5'-flanking region of SAA1 associated with risk of type AA amyloidosis secondary to rheumatoid arthritis
    M Moriguchi
    Institute of Rheumatology, Tokyo Women's Medical University, Japan
    Arthritis Rheum 44:1266-72. 2001
    ..CONCLUSION: Our data suggest that the SAA1 -13T allele, rather than SAA1 exon 3 haplotypes, is primarily associated with AA amyloidosis risk...
  14. ncbi request reprint Progressive appearance of overlap syndrome together with autoantibodies in a patient with fatal thrombotic microangiopathy
    Y Nanke
    Institute of Rheumatology, Tokyo Women s Medical University, Japan
    Am J Med Sci 320:348-51. 2000
    ..The clinical presentations of the case support the concept of strong associations between disease-specific autoantibodies and clinical features...
  15. doi request reprint Association study of TRAF1-C5 polymorphisms with susceptibility to rheumatoid arthritis and systemic lupus erythematosus in Japanese
    K Nishimoto
    Institute of Rheumatology, Tokyo Women s Medical University, Japan
    Ann Rheum Dis 69:368-73. 2010
    ..Gene expression levels of TRAF1 and C5 to assess the functional significance of genotypes were also analysed...
  16. ncbi request reprint Tumor necrosis factor-alpha (TNF-alpha) converting enzyme contributes to production of TNF-alpha in synovial tissues from patients with rheumatoid arthritis
    S Ohta
    Institute of Rheumatology, Tokyo Women's Medical University, Japan
    J Rheumatol 28:1756-63. 2001
    ..A synthetic TACE inhibitor significantly reduced the release of TNF-alpha and p75 TNF receptor from RA ST cells. CONCLUSION: TACE is an important regulator of the secretion of TNF-alpha from synovia of patients with RA...
  17. pmc Supportive evidence for a genetic association of the FCRL3 promoter polymorphism with rheumatoid arthritis
    K Ikari
    Institute of Rheumatology, Tokyo Women s Medical University, 10 22 Kawada, Shinjuku, Tokyo 162 0054, Japan
    Ann Rheum Dis 65:671-3. 2006
    ..A case-control study showed that the strongest evidence of the association was derived from a polymorphism in the promoter region of FCRL3, which has a regulatory effect on the expression of the gene...
  18. pmc A prospective study of renal disease in patients with early rheumatoid arthritis
    Y Koseki
    Institute of Rheumatology, Tokyo Women's Medical University, 10-22 Kawada-cho, Shinjuku-ku, Tokyo 162-0054, Japan
    Ann Rheum Dis 60:327-31. 2001
    ....
  19. ncbi request reprint Association between PADI4 and rheumatoid arthritis: a meta-analysis
    T Iwamoto
    Institute of Rheumatology, Tokyo Women s Medical University, 10 22 Kawada, Shinjuku, Tokyo 162 0054, Japan
    Rheumatology (Oxford) 45:804-7. 2006
    ..However, subsequent replication studies showed conflicting results. The aim of this study was to determine whether meta-analysis would prove the existence of the association...
  20. ncbi request reprint Activated human T cells directly induce osteoclastogenesis from human monocytes: possible role of T cells in bone destruction in rheumatoid arthritis patients
    S Kotake
    Institute of Rheumatology, Tokyo Women's Medical University, Japan
    Arthritis Rheum 44:1003-12. 2001
    ..In addition, the present findings suggest that excess production of RANKL by activated T cells increases the level of sRANKL in synovial fluid and may contribute to osteoclastic bone resorption in RA patients...
  21. pmc Raised monocyte chemotactic protein-1 (MCP-1)/CCL2 in cerebrospinal fluid of patients with neuropsychiatric lupus
    N Iikuni
    Institute of Rheumatology, Tokyo Women s Medical University, 10 22 Kawada cho, Shinjuku, Tokyo 162 0054, Japan
    Ann Rheum Dis 65:253-6. 2006
    ..An imbalance in cytokine homoeostasis is thought to have a key role in the neuropsychiatric syndromes of systemic lupus erythematosus (NPSLE), and recently, a role for chemokines has been noted...
  22. doi request reprint Mortality and cause of death in Japanese patients with rheumatoid arthritis based on a large observational cohort, IORRA
    A Nakajima
    Institute of Rheumatology, Tokyo Women s Medical University, Japan
    Scand J Rheumatol 39:360-7. 2010
    ..To investigate mortality, cause of death, and risk factors related to mortality in Japanese patients with rheumatoid arthritis (RA)...
  23. pmc Increased risk of tuberculosis in patients with rheumatoid arthritis in Japan
    T Yamada
    Institute of Rheumatology, Tokyo Women s Medical University, 10 22 Kawada cho, Shinjuku ku, Tokyo 162 0054, Japan
    Ann Rheum Dis 65:1661-3. 2006
    ..To determine the risk for tuberculosis infection in patients with rheumatoid arthritis before the anti-cytokine era in Japan...
  24. ncbi request reprint Efficient management of rheumatoid arthritis significantly reduces long-term functional disability
    E Tanaka
    Institute of Rheumatology, Tokyo Women s Medical University, 10 22 Kawada cho, Shinjuku ku, Tokyo 162 0054, Japan
    Ann Rheum Dis 67:1153-8. 2008
    ..The aim of this study was to examine the effect of efficient management of rheumatoid arthritis (RA) in relation to disability levels in a large cohort of patients with RA over a period of 3 years...
  25. ncbi request reprint Inhibition of NF-kappaB signaling by fenofibrate, a peroxisome proliferator-activated receptor-alpha ligand, presents a therapeutic strategy for rheumatoid arthritis
    H Okamoto
    Institute of Rheumatology, Tokyo Women s Medical University, Tokyo, Japan
    Clin Exp Rheumatol 23:323-30. 2005
    ..Ligands for peroxisome proliferator-activated receptor (PPAR) -gamma have recently been reported to inhibit the development of RA. In this study, we investigated the role of PPARalpha in RA...
  26. ncbi request reprint Monocyte chemoattractant protein-4 (MCP-4)/CCL13 is highly expressed in cartilage from patients with rheumatoid arthritis
    T Iwamoto
    Institute of Rheumatology, Tokyo Women s Medical University, 10 22 Kawada cho, Shinjuku, Tokyo 162 0054, Japan
    Rheumatology (Oxford) 45:421-4. 2006
    ....
  27. pmc Single nucleotide polymorphisms in the gene encoding the major histocompatibility complex class II transactivator (CIITA) in systemic lupus erythematosus
    K Koizumi
    Institute of Rheumatology, Tokyo Women s Medical University, 10 22 Kawada cho, Shinjuku, Tokyo 162 0054, Japan
    Ann Rheum Dis 64:947-50. 2005
    ..Insufficient up regulation of MHC class II molecules is reported to be one of the major immunological mechanisms in systemic lupus erythematosus (SLE)...
  28. pmc Detection of an amino acid substitution in the mutant enzyme for a special type of adenine phosphoribosyltransferase (APRT) deficiency by sequence-specific protein cleavage
    N Kamatani
    Institute of Rheumatology, Tokyo Women s Medical College, Japan
    Am J Hum Genet 45:325-31. 1989
    ....
  29. ncbi request reprint Rapidly progressive glomerulonephritis with D-penicillamine
    Y Nanke
    Institute of Rheumatology, Tokyo Women s Medical University, Japan
    Am J Med Sci 320:398-402. 2000
    ..Their renal function improved gradually and MPO-ANCA disappeared after immunosuppressive treatment...
  30. pmc Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients
    N Kamatani
    Institute of Rheumatology, Tokyo Women s Medical College, Japan
    J Clin Invest 90:130-5. 1992
    ..Distribution of mutant alleles encoding APRT deficiency among the Japanese was similar to that seen in cystic fibrosis genes among Caucasians and Tay-Sachs genes among the Ashkenazi Jews...
  31. ncbi request reprint Cricoarytenoid arthritis with rheumatoid arthritis and systemic lupus erythematosus
    Y Nanke
    Institute of Rheumatology, Tokyo Women s Medical University, Japan
    J Rheumatol 28:624-6. 2001
    ..She was given high dose corticosteroids that improved her clinical symptoms and laryngoscopic findings. She represents the first patient with overlap syndrome who developed an acute airway obstruction due to cricoarytenoid arthritis...
  32. ncbi request reprint Geranylgeranylacetone inhibits formation and function of human osteoclasts and prevents bone loss in tail-suspended rats and ovariectomized rats
    Y Nanke
    Institute of Rheumatology, Tokyo Women s Medical University, 10 22 Kawada cho, Shinjuku ku, Tokyo 162 0054, Japan
    Calcif Tissue Int 77:376-85. 2005
    ..These results indicate that GGA prevents bone loss by maintaining a positive balance of bone turnover through suppression of both the formation and the activity of osteoclasts. Thus, GGA could be used to prevent and improve osteoporosis...
  33. ncbi request reprint Cryptogenic organizing pneumonia in two patients with Behçet's disease
    Y Nanke
    Institute of Rheumatology, Tokyo Women s Medical University, Tokyo, Japan
    Clin Exp Rheumatol 25:S103-6. 2007
    ..The pulmonary parenchymal involvement still needs to be explored fully to diagnose early and start proper treatment. These two rare cases provide clinical insight into lung involvement in Behçet's disease...
  34. ncbi request reprint Pharmacogenetic approaches to rheumatoid arthritis
    A Taniguchi
    Institute of Rheumatology, Tokyo Women s Medical University, Tokyo, Japan
    Pharmacogenomics J 4:350-3. 2004
  35. ncbi request reprint Two Japanese cases with MAGIC syndrome (mouth and genital ulcers with inflamed cartilage)
    Y Nanke
    Institute of Rheumatology, Tokyo Women s Medical University, 10 22 Kawada cho, Shinjuku ku, Tokyo 162 0054, Japan
    Clin Exp Rheumatol 24:S113-4. 2006
    ..The conditions of both patients were resolved by treatment with corticosteroid and colchicine. We also review the English literature related to this rare syndrome...
  36. pmc Serum nitric oxide (NO) levels in systemic sclerosis patients: correlation between NO levels and clinical features
    K Takagi
    Institute of Rheumatology, Tokyo Women s Medical University, Tokyo, Japan
    Clin Exp Immunol 134:538-44. 2003
    ....
  37. ncbi request reprint Crossovers within a short DNA sequence indicate a long evolutionary history of the APRT*J mutation
    N Kamatani
    Institute of Rheumatology, Tokyo Women s Medical College, Japan
    Hum Genet 85:600-4. 1990
    ..These results suggest that all APRT*J alleles have a single origin and that this mutant sequence has been maintained for a long period, as calculated from the frequency of the recombinant alleles...
  38. ncbi request reprint Pancytopenia and colitis with Clostridium difficile in a rheumatoid arthritis patient taking methotrexate, antibiotics and non-steroidal anti-inflammatory drugs
    Y Nanke
    Institute of Rheumatology, Tokyo Women s Medical University, Japan
    Clin Rheumatol 20:73-5. 2001
    ..Our case suggests that low-dose MTX may seriously interact with antibiotics and that these side-effects should always be considered when RA patients are treated with MTX and antibiotics...
  39. ncbi request reprint Pharmacogenetics of disease-modifying anti-rheumatic drugs
    E Tanaka
    Institute of Rheumatology, Tokyo Women s Medical University, 10 22 Kawada cho, Shinjuku ku, Tokyo 162 0054, Japan
    Best Pract Res Clin Rheumatol 18:233-47. 2004
    ....
  40. pmc Adrenomedullin in synovial fluids from patients with rheumatoid arthritis inhibits interleukin 6 production from synoviocytes
    Y Nanke
    Institute of Rheumatology, Tokyo Women s Medical University, 10 22 Kawada cho, Shinjuku ku, Tokyo 162 0054, Japan
    Ann Rheum Dis 62:82-3. 2003
  41. ncbi request reprint Localization of a gene for familial juvenile hyperuricemic nephropathy causing underexcretion-type gout to 16p12 by genome-wide linkage analysis of a large family
    N Kamatani
    Institute of Rheumatology, Tokyo Women s Medical University, Japan
    Arthritis Rheum 43:925-9. 2000
    ..No loci responsible for this disease or any underexcretion-type hyperuricemia/gout have ever been identified. The aim of the study was to localize a gene responsible for FJHN by linkage analysis...
  42. ncbi request reprint Radiopaque 2,8-dihydroxyadenine lithiasis
    T Yagisawa
    Department of Urology, Tokyo Women s Medical College, Japan
    Int Urol Nephrol 31:141-3. 1999
    ..This report is a case of radiopaque 2,8-DHA stone and proposes that the composition of urinary stones should always be investigated for adequate medical treatment...
  43. ncbi request reprint Association between adult-onset Still's disease and interleukin-18 gene polymorphisms
    T Sugiura
    Institute of Rheumatology, Tokyo Women s Medical University School of Medicine, Tokyo, Japan
    Genes Immun 3:394-9. 2002
    ..65) and the RA patients (P=0.015, Fischer's exact probability test, OR=4.0, 95% CI=1.39-11.54). We therefore conclude that possession of the diplotype configuration of S01/S01 is a major genetic risk factor for susceptibility to AOSD...
  44. ncbi request reprint Plasma concentration of TARC/CCL17 is elevated in nonepisodic angioedema associated with eosinophilia
    H Okamoto
    Institute of Rheumatology, Tokyo Women s Medical University, 10 22 Kawada cho, Shinjuku, Tokyo 162 0054, Japan
    Allergy 60:1091-2. 2005
  45. ncbi request reprint Determination of probability distribution of diplotype configuration (diplotype distribution) for each subject from genotypic data using the EM algorithm
    Y Kitamura
    Division of Statistical Genetics, Institute of Rheumatology, Tokyo Women s Medical University, Japan
    Ann Hum Genet 66:183-93. 2002
    ..Using this method, the risk of a subject developing a phenotype may be estimated from the diplotype distribution when the phenotype is associated with diplotype configurations...
  46. ncbi request reprint Synovial histology in three Behçet's disease patients with orthopedic surgery
    Y Nanke
    Institute of Rheumatology, Tokyo Women s Medical University, Japan
    Clin Exp Rheumatol 20:S35-9. 2002
    ..These findings suggest that the histopathological characteristics of synovial tissue in Behçet's disease may have a wide range, some of which may even resemble the synovial tissue of rheumatoid arthritis...
  47. pmc Human adenine phosphoribosyltransferase deficiency. Demonstration of a single mutant allele common to the Japanese
    Y Hidaka
    Department of Internal Medicine, University of Michigan Medical Center, Ann Arbor 48109
    J Clin Invest 81:945-50. 1988
    ..These studies provide direct evidence for the nature of the mutation in the Japanese-type APRT deficiency...
  48. pmc A mutant allele common to the type I adenine phosphoribosyltransferase deficiency in Japanese subjects
    A Mimori
    Department of Internal Medicine, University of Michigan Medical Center, Ann Arbor 48109 0358
    Am J Hum Genet 48:103-7. 1991
    ..The G----A change at 1453 results in the elimination of a PflMI site in the APRT gene. PflMI digests, which were used to confirm the G----A transition, can be useful in screening for this specific mutation...
  49. ncbi request reprint Association of a haplotype in the serotonin 5-HT4 receptor gene (HTR4) with Japanese schizophrenia
    T Suzuki
    Department of Psychiatry, Fujita Health University, Toyoake, Aichi, Japan
    Am J Med Genet B Neuropsychiatr Genet 121:7-13. 2003
    ..13 [0.03-0.58]) was detected. These findings suggest that haplotype A-T itself may inhibit the occurrence of schizophrenia, or that another susceptible genetic variants may exist within linkage disequilibrium...
  50. doi request reprint Age and origin of the G774A mutation in SLC22A12 causing renal hypouricemia in Japanese
    K Ichida
    Department of Pathophysiology, Tokyo University of Pharmacy and Life Sciences, Tokyo, Japan
    Clin Genet 74:243-51. 2008
    ..Thus, this mutation found in Japanese patients was originally brought by immigrant(s) from the continent and thereafter expanded in the Japanese population either by founder effects or by genetic drift (or both)...
  51. ncbi request reprint Modulation of the onset age in primary dystonia by APOE genotype
    S Matsumoto
    Department of Clinical Neuroscience, Tokushima University School of Medicine, Japan
    Neurology 60:2003-5. 2003
    ..0012). This suggests that APOE-epsilon4 genotype affects the clinical presentation of primary dystonia...
  52. doi request reprint Lack of association between PADI4 and functional severity in Japanese rheumatoid arthritis patients
    K Nishimoto
    Ann Rheum Dis 67:431-2. 2008
  53. doi request reprint CTLA-4 CT60 polymorphism is not an independent genetic risk marker of rheumatoid arthritis in a Japanese population
    S Tsukahara
    Ann Rheum Dis 67:428-9. 2008
  54. doi request reprint Genetic polymorphisms in the surfactant proteins in systemic sclerosis in Japanese: T/T genotype at 1580 C/T (Thr131Ile) in the SP-B gene reduces the risk of interstitial lung disease
    Y Sumita
    Third Department of Internal Medicine, Faculty of Medicine, Shimane University, Shimane, Japan
    Rheumatology (Oxford) 47:289-91. 2008
    ..To investigate the association between single-nucleotide polymorphisms (SNPs) in the pulmonary surfactant protein (SP) genes and the presence or absence of interstitial lung disease (ILD) in SSc patients...
  55. ncbi request reprint Trends in the manifestations of gout in Taiwan
    S Y Chen
    Department of Internal Meidcine, Taipei Municipal Ho Ping Hospital, Taiwan
    Rheumatology (Oxford) 42:1529-33. 2003
    ..To elucidate the recent changes in the clinical manifestations, risk factors and disorders associated with gout...
  56. ncbi request reprint Analysis of germline and in vivo somatic mutations in the human adenine phosphoribosyltransferase gene: mutational hot spots at the intron 4 splice donor site and at codon 87
    J Chen
    Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis 46202
    Mutat Res 287:217-25. 1993
    ..Thus, in vivo, rather than in vitro, somatic mutations in this gene may be more representative of mutational events occurring in the germline...
  57. ncbi request reprint Postmarketing surveillance of the safety profile of infliximab in 5000 Japanese patients with rheumatoid arthritis
    T Takeuchi
    Division of Rheumatology and Clinical Immunology, Saitama Medical Center, Saitama Medical University, 1981 Kamoda, Kawagoe, Saitama 350 8550, Japan
    Ann Rheum Dis 67:189-94. 2008
    ..A large-scale postmarketing surveillance (PMS) study was carried out to determine the safety profile of infliximab in Japanese patients with rheumatoid arthritis (RA)...
  58. ncbi request reprint The occurrence of Japanese cedar pollinosis with rheumatoid arthritis
    K Koizumi
    Clin Exp Rheumatol 25:505-6. 2007
  59. ncbi request reprint Novel prion protein polymorphisms in cattle
    A Takasuga
    Shirakawa Institute of Animal Genetics, Fukushima, Japan
    Anim Genet 34:396-7. 2003
  60. ncbi request reprint Genetic variations and haplotype structures of the ABCB1 gene in a Japanese population: an expanded haplotype block covering the distal promoter region, and associated ethnic differences
    K Sai
    Project Team for Pharmacogenetics, National Institute of Health Sciences, Tokyo, 158 8501, USA
    Ann Hum Genet 70:605-22. 2006
    ..Our updated analysis of ABCB1 haplotype blocks will assist pharmacogenetic and disease-association studies carried out using Asian subjects...
  61. pmc Haplotype analysis of human AMPD1 gene: origin of common mutant allele
    K Toyama
    J Med Genet 41:e74. 2004
  62. ncbi request reprint Clinical features of familial gout and effects of probable genetic association between gout and its related disorders
    S Y Chen
    Taipei Municipal Hospital Gout Research Group, Taipei, Taiwan
    Metabolism 50:1203-7. 2001
    ....
  63. ncbi request reprint Genetic polymorphisms and haplotypes of the human cardiac sodium channel alpha subunit gene (SCN5A) in Japanese and their association with arrhythmia
    K Maekawa
    Project Team for Pharmacogenetics, National Institute of Health Sciences, 1 18 1 Kamiyoga, Setagaya Ku, Tokyo 158 8501, Japan
    Ann Hum Genet 69:413-28. 2005
    ..This study provides fundamental information necessary to elucidate the effect of genetic variations in SCN5A on channel function and cardiac rhythm in Japanese, and probably in the Asian population...
  64. ncbi request reprint A recurrent large Alu-mediated deletion in the hypoxanthine phosphoribosyltransferase (HPRT1) gene associated with Lesch-Nyhan syndrome
    M Mizunuma
    Department of Internal Medicine, Teikyo University School of Medicine, Tokyo, Japan
    Hum Mutat 18:435-43. 2001
    ..In addition, we also report novel LN-syndrome-conferring mutations in intron 6 (IVS6+1G --> C) and intron 8 (IVS7-9T --> G) that resulted in exclusions of exon 6 and exon 8, respectively...
  65. pmc Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria
    K Ichida
    Second Department of Medicine, The Jikei University School of Medicine, Tokyo 105
    J Clin Invest 99:2391-7. 1997
    ..Thus, in three subjects with type I xanthinuria, the primary genetic defects were confirmed to be in the xanthine dehydrogenase gene...