Research Topics
Genomes and Genes
| S IkegawaSummaryAffiliation: University of Tokyo Country: Japan Publications
| Collaborators
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Detail Information
Publications
Lack of association between the CALM1 core promoter polymorphism (-16C/T) and susceptibility to knee osteoarthritis in a Chinese Han populationDongquan Shi
The Center of Diagnosis and Treatment for Joint Disease, Drum Tower Hospital Affiliated to Medical School of Nanjing University, Nanjing 210008, Jiangsu, PR China
BMC Med Genet 9:91. 2008..The present study is to evaluate the association of the -16C/T polymorphism with knee OA in a Chinese Han population...- Association of the D repeat polymorphism in the ASPN gene with developmental dysplasia of the hip: a case-control study in Han ChineseDongquan Shi
The Center of Diagnosis and Treatment for Joint Disease, Drum Tower Hospital Affiliated to Medical School of Nanjing University, Zhongshan Road 321, Nanjing 210008, Jiangsu, PR China
Arthritis Res Ther 13:R27. 2011..Our objective is to evaluate whether the D repeat polymorphism of ASPN is associated with DDH in Han Chinese... 
Replication of association of the D-repeat polymorphism in asporin with osteoarthritisShiro Ikegawa
Arthritis Res Ther 8:403; author reply 403. 2006- Association of single-nucleotide polymorphisms in RHOB and TXNDC3 with knee osteoarthritis susceptibility: two case-control studies in East Asian populations and a meta-analysisDongquan Shi
The Center of Diagnosis and Treatment for Joint Disease, Drum Tower Hospital Affiliated to Medical School of Nanjing University, 321 Zhongshan Road, Nanjing 210008, Jiangsu, China
Arthritis Res Ther 10:R54. 2008..To examine the associations of these SNPs with OA in East Asian populations and to evaluate their global significance, we conducted two case-control studies in 955 Chinese and 750 Japanese patients... - Association of a single nucleotide polymorphism in growth differentiate factor 5 with congenital dysplasia of the hip: a case-control studyJin Dai
The Center of Diagnosis and Treatment for Joint Disease, Drum Tower Hospital Affiliated to Medical School of Nanjing University, Nanjing 210008, Jiangsu, PR China
Arthritis Res Ther 10:R126. 2008..Our objective is to evaluate if the GDF5 SNP is associated with congenital dysplasia of the hip in people of Han Chinese origin... - Prediction model for knee osteoarthritis based on genetic and clinical informationHiroshi Takahashi
Laboratory for Statistical Analysis, Center for Genomic Medicine, RIKEN, 4 6 1 Shirokanedai, Minato ku, Tokyo 108 8639, Japan
Arthritis Res Ther 12:R187. 2010..Here, we constructed OA-prediction models based on genotype information from a case-control association study and tested their predictability... 
Cloning and characterization of ASH2L and Ash2l, human and mouse homologs of the Drosophila ash2 geneS Ikegawa
Laboratory of Genome Medicine, Human Genome Center, Institute of Medical Science, The University of Tokyo, Minato ku, Tokyo, Japan
Cytogenet Cell Genet 84:167-72. 1999..The presence of a conserved bipartite nuclear localization signal and a PHD finger motif in the human ash2 gene suggests that the gene product would function as a transcriptional regulator in humans, as its homologue does in Drosophila...- Cloning and characterization of a novel gene (C8orf2), a human representative of a novel gene family with homology to C. elegans C42.C1.9S Ikegawa
Laboratory of Genome Medicine, Human Genome Center, Institute of Medical Science, The University of Tokyo, Minato ku, Tokyo, Japan
Cytogenet Cell Genet 85:227-31. 1999..C8orf2 also bore sequence homology to the human KE04p gene. Its conservation among highly divergent species suggests that C8orf2 belongs to a novel gene family... - Cloning and characterization of human and mouse PROSC (proline synthetase co-transcribed) genesS Ikegawa
Laboratory of Genome Medicine, University of Tokyo, Japan
J Hum Genet 44:337-42. 1999..The gene product is likely to be a soluble cytoplasmic protein, but its function remains to be determined... - Novel and recurrent EBP mutations in X-linked dominant chondrodysplasia punctataS Ikegawa
Laboratory of Genome Medicine, Human Genome Center, Institute of Medical Science, University of Tokyo, Tokyo, Japan
Am J Med Genet 94:300-5. 2000..X-inactivation patterns of the patients showed no skewing, an observation that supports the assumption that inactivation of the EBP gene occurs at random in affected individuals... - Isolation, characterization and mapping of the mouse and human PRG4 (proteoglycan 4) genesS Ikegawa
Laboratory of Genome Medicine, Human Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo, Japan
Cytogenet Cell Genet 90:291-7. 2000.... - Expression, regulation and function of asporin, a susceptibility gene in common bone and joint diseasesShiro Ikegawa
Laboratory for Bone and Joint Diseases, SNP Research Center, RIKEN, Tokyo, Japan
Curr Med Chem 15:724-8. 2008..As an extracellular, tissue-specific protein, asporin represents a promising target for phamacogenomic approaches to common bone and joint diseases... - Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasiaS Ikegawa
Laboratory of Genome Medicine, Human Genome Center, Institute of Medical Science, University of Tokyo, Japan
Hum Genet 103:633-8. 1998..These genotype-phenotype correlations may facilitate molecular diagnosis and classification of PSACH and MED, and provide insight into the relationship between structure and function of the COMP gene product... - Genetic analysis of skeletal dysplasia: recent advances and perspectives in the post-genome-sequence eraShiro Ikegawa
Laboratory for Bone and Joint Diseases, SNP Research Center, RIKEN, 4 6 1 Shirokanedai, Tokyo 108 8639, Japan
J Hum Genet 51:581-6. 2006..In this study, the author reviews recent advances and the current status of the genetic analysis of skeletal dysplasia and its impacts on research into skeletal biology... - Allele-specific PCR amplification due to sequence identity between a PCR primer and an amplicon: is direct sequencing so reliable?Shiro Ikegawa
Laboratory for Bone and Joint Diseases, SNP Research Center, RIKEN The Institute of Physical and Chemical Research, Tokyo, Japan
Hum Genet 110:606-8. 2002..Sequence similarity between PCR primers and internal amplified regions should be considered for all methods for mutation detection and genotyping using PCR... - Isolation, characterization and chromosomal assignment of the human WNT7A geneS Ikegawa
Laboratory of Molecular Medicine, University of Tokyo, Japan
Cytogenet Cell Genet 74:149-52. 1996..Furthermore, we have isolated a genomic clone of WNT7A and mapped it to chromosome 3p25 by fluorescent in situ hybridization... - Mutation of the type X collagen gene (COL10A1) causes spondylometaphyseal dysplasiaS Ikegawa
Laboratory of Genome Medicine, Institute of Medical Science, University of Tokyo, Japan
Am J Hum Genet 63:1659-62. 1998..This initial documented identification of a mutation in SMD expands our knowledge concerning the range of the pathological phenotypes that can be produced by aberrations of type X collagen (type X collagenopathy)... - Structure of the gene encoding human colligin-2 (CBP2)S Ikegawa
Laboratory of Molecular Medicine, Institute of Medical Science, University of Tokyo, Japan
Gene 194:301-3. 1997..These findings suggest colligin may function as a collagen-specific molecular chaperon and play a role in the process of retinoic acid-induced differentiation... - New gene associations in osteoarthritis: what do they provide, and where are we going?Shiro Ikegawa
Laboratory for Bone and Joint Diseases, SNP Research Center, RIKEN, Tokyo, Japan
Curr Opin Rheumatol 19:429-34. 2007..This review summarizes recent advances and emerging challenges in osteoarthritis association studies... - Pseudoachondroplasia with de novo deletion [del(11)(q21q22.2)]S Ikegawa
Laboratory of Molecular Medicine, Human Genome Center, Institute of Medical Science, University of Tokyo, Japan
Am J Med Genet 77:356-9. 1998..2)]. The size of the deletion was estimated at 0.8-7.3 Mb using fluorescent in situ hybridization (FISH). This deletion may contain or disrupt a second PSACH locus... - Identification of sequence polymorphisms in two sulfation-related genes, PAPSS2 and SLC26A2, and an association analysis with knee osteoarthritisT Ikeda
SNP Research Center, RIKEN The Institute of Physical and Chemical Research, University of Tokyo, Japan
J Hum Genet 46:538-43. 2001..43) and is thought to confer a minor susceptibility to knee OA within the Japanese population. Haplotype analysis showed no evidence of association with the two genes, however, excluding them as major susceptibility loci for knee OA... - Isolation, characterization, and mapping of the mouse and human WDR8 genes, members of a novel WD-repeat gene familyY Koshizuka
Laboratory of Genome Medicine, University of Tokyo, Tokyo, Japan
Genomics 72:252-9. 2001..The WDR8 protein is highly conserved among a variety of species, but is distinctly different from other WD-repeat proteins, indicating that it represents a novel subfamily of the WD-repeat gene family... - Novel mutation in exon 18 of the cartilage oligomeric matrix protein gene causes a severe pseudoachondroplasiaA Mabuchi
Laboratory for Bone and Joint Diseases, SNP Research Center, RIKEN The Institute of Physical and Chemical Research, Tokyo, Japan
Am J Med Genet 104:135-9. 2001..Our results extend the range of disease-causing mutations within the COMP gene and demonstrate the importance of the additional domain of COMP protein in its in vivo function... - Association of the human NPPS gene with ossification of the posterior longitudinal ligament of the spine (OPLL)I Nakamura
Human Genome Center, Institute of Medical Science, The University of Tokyo, Japan
Hum Genet 104:492-7. 1999..Thus, our study suggests that NPPS plays an important role in the etiology of human OPLL... - Isolation of novel mouse genes associated with ectopic ossification by differential display method using ttw, a mouse model for ectopic ossificationY Koshizuka
Laboratory of Genome Medicine, Human Genome Center, Institute of Medical Science, The University of Tokyo, Japan
Cytogenet Cell Genet 94:163-8. 2001..Our identification of the novel genes would give novel insight into the mechanism of ectopic ossification and etiology of OPLL... - Mutation in Npps in a mouse model of ossification of the posterior longitudinal ligament of the spineA Okawa
Laboratory of Molecular Medicine, Human Genome Center, Institute of Medical Science, The University of Tokyo, Japan
Nat Genet 19:271-3. 1998..Our results may lead to novel insights into the mechanism of ectopic ossification and the aetiology of human OPLL... - Isolation and characterization of a human cDNA clone (GCN5L1) homologous to GCN5, a yeast transcription activatorM Inoue
Laboratory of Molecular Medicine, University of Tokyo, Japan
Cytogenet Cell Genet 73:134-6. 1996..We isolated a genomic clone corresponding to this cDNA from a human cosmid library and mapped it to chromosome 12q13 --> q14 by fluorescent in situ hybridization (FISH)... - Genomic organization, mapping, and polymorphisms of the gene encoding human cartilage intermediate layer protein (CILP)I Nakamura
Laboratory of Molecular Medicine, University of Tokyo, Japan
J Hum Genet 44:203-5. 1999..We also report six single nucleotide variations in this gene; five of them cause amino acid changes and the most common of them substitutes isoleucine for threonine at codon 395... - Spondylar dysplasia in type X collagenopathyG Nishimura
Nishi Tama Hospital, Tokyo, Japan
Pediatr Radiol 31:76-80. 2001.... - Identification of sequence polymorphisms of the COMP (cartilage oligomeric matrix protein) gene and association study in osteoarthrosis of the knee and hip jointsA Mabuchi
Laboratory for Bone and Joint Diseases, SNP Research Center, RIKEN The Institute of Physical and Chemical Research, University of Tokyo, Japan
J Hum Genet 46:456-62. 2001..These results do not support an association between COMP and OA in the Japanese population... - Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasiaS Ikegawa
Laboratory of Molecular Medicine, University of Tokyo, Japan
Hum Mutat 9:131-5. 1997.... - Structure and chromosomal assignment of the human S1-5 gene (FBNL) that is highly homologous to fibrillinS Ikegawa
Laboratory of Molecular Medicine, University of Tokyo, Japan
Genomics 35:590-2. 1996..Our data should facilitate an understanding of the function and regulation of S1-5 in human tissues... - Isolation, characterization and chromosomal assignment of human colligin-2 gene (CBP2)S Ikegawa
Department of Biochemistry, Cancer Institute, Tokyo, Japan
Cytogenet Cell Genet 71:182-6. 1995..We have mapped this novel gene to chromosomes 11q13.5 by fluorescent in situ hybridization (FISH) using a cosmid clone containing the entire coding sequence and the 3' non-coding sequence... - Mutations of the fibroblast growth factor receptor-3 gene in one familial and six sporadic cases of achondroplasia in Japanese patientsS Ikegawa
Department of Biochemistry, Cancer Institute, Tokyo, Japan
Hum Genet 96:309-11. 1995..Of the six cases that were sporadic, all carried a mutation in codon 380; the single familial case bore a novel mutation of a G-to-T transition at codon 375, which resulted in substitution of a cysteine for a glycine... 
Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia familyJ Dai
Laboratory for Bone and Joint Diseases, Center for Genomic Medicine, 4 6 1 Shirokane dai, Minato ku, Tokyo 108 8639, Japan
J Med Genet 47:704-9. 2010..Only a total of seven missense mutations were detected, however. The full spectrum of TRPV4 mutations and their phenotypes remained unclear...- A mild form of pseudoachondroplasia: minimal epi-metaphyseal involvement of long bonesN Manabe
Department of Orthopaedic Surgery, Faculty of Medicine, University of Tokyo, Japan
Eur J Radiol 28:155-9. 1998..Since the overlap of PSACH and MED has recently been discussed from the viewpoint of molecular biology, study of the spectrum of clinical features of PSACH is important... - High-resolution SNP map of ASPN, a susceptibility gene for osteoarthritisAritoshi Iida
Laboratory for Pharmacogenetics, RIKEN SNP Research Center, Institute of Medical Science, The University of Tokyo, 4 6 1 Shirokanedai, Minato, Tokyo 108 8639, Japan
J Hum Genet 51:151-4. 2006..Nine SNPs were novel. This high-resolution SNP map will be a useful resource for analyzing genes associated with OA and other bone and joint diseases... - Fatigue responses of human triceps surae muscles during repetitive maximal isometric contractionsY Kawakami
Department of Life Sciences, University of Tokyo, Japan
J Appl Physiol 88:1969-75. 2000..Further support for this possibility was provided from changes in twitch torque... - Association study of COL9A2 with lumbar disc disease in the Japanese populationShoji Seki
Laboratory for Bone and Joint Diseases, SNP Research Center, RIKEN, 4 6 1 Shirokanedai, Minato ku, Tokyo, 108 8639, Japan
J Hum Genet 51:1063-7. 2006..011). Thus, the association of Trp2 with LDD was not replicated, but COL9A2 susceptibility allele(s) other than Trp2 may be present in Japanese LDD... - Meta-analysis of association between the ASPN D-repeat and osteoarthritisTakahiro Nakamura
Laboratory for Statistical Analysis, SNP Research Center, RIKEN, Tokyo 108 8639, Japan
Hum Mol Genet 16:1676-81. 2007..The present results suggest that the association of the ASPN D14 allele and knee OA has global relevance, but that its effect has ethnic differences... - [Progress of research in osteoarthritis. Recent advance in the study of susceptibility genes for osteoarthritis]Shiro Ikegawa
Laboratory for Bone and Joint Diseases, Center for Genomic Medicine, RIKEN
Clin Calcium 19:1616-20. 2009..e., the susceptibility genes for OA is rapidly in progress. Recent advance in the study of OA susceptibility genes is reviewed with focus on the genome-wide association study and the large-scale replication study... - Nucleotide pyrophosphatase gene polymorphism associated with ossification of the posterior longitudinal ligament of the spineYu Koshizuka
Department of Orthopaedic Surgery, Graduate School of Medicine, Institute of Medical Science, University of Tokyo, Japan
J Bone Miner Res 17:138-44. 2002..046) and female sex (p = 0.006) were associated with severe ossification. We conclude that the IVS15-14T --> C substitution in the human NPPS gene is associated not only with susceptibility to, but also with severity of OPLL... - Mapping of a gene responsible for twy (tip-toe walking Yoshimura), a mouse model of ossification of the posterior longitudinal ligament of the spine (OPLL)A Okawa
Institute of Medical Science, University of Tokyo, Japan
Mamm Genome 9:155-6. 1998 - A functional polymorphism in the 5' UTR of GDF5 is associated with susceptibility to osteoarthritisYoshinari Miyamoto
Laboratory for Bone and Joint Diseases, SNP Research Center, RIKEN, 4 6 1, Shirokanedai, Minato ku, Tokyo 108 8639, Japan
Nat Genet 39:529-33. 2007..Our findings implicate GDF5 as a susceptibility gene for osteoarthritis and suggest that decreased GDF5 expression is involved in the pathogenesis of osteoarthritis... - Identification of a novel non-coding RNA, MIAT, that confers risk of myocardial infarctionNobuaki Ishii
Laboratory for Cardiovascular Diseases, SNP Research Center, The Institute of Physical and Chemical Research RIKEN, 4 6 1 Shirokanedai, Minato ku, Tokyo, 108 8639, Japan
J Hum Genet 51:1087-99. 2006..Moreover, unidentified nuclear protein(s) bound more intensely to risk allele than non-risk allele. These results indicate that the altered expression of MIAT by the SNP may play some role in the pathogenesis of MI... - [Asporin, a susceptibility gene for osteoarthritis]Shiro Ikegawa
Laboratory for Bone and Joint Diseases, SNP Research Center, RIKEN
Clin Calcium 16:1548-52. 2006..Asporin co-localized to and bound to TGF-beta, and inhibited TGF-beta-Smad signal. Clarification of molecular pathway of OA relating to asporin and TGF-beta would lead to order-made medicine and novel therapeutic strategies for OA... - Regulatory polymorphisms in EGR2 are associated with susceptibility to systemic lupus erythematosusKeiko Myouzen
Laboratory for Autoimmune Diseases, Center for Genomic Medicine, RIKEN, Tokyo 113 0033, Japan
Hum Mol Genet 19:2313-20. 2010..Therefore, EGR2 is a genetic risk factor for SLE, in which increased gene expression may contribute to SLE pathogenesis... - Association of the tag SNPs in the human SKT gene (KIAA1217) with lumbar disc herniationTatsuki Karasugi
Laboratory for Bone and Joint Diseases, Center for Genomic Medicine, RIKEN, Tokyo, Japan
J Bone Miner Res 24:1537-43. 2009..026). The combined p value of the two population by meta-analysis is 0.00040 (OR, 1.34; 95% CI, 1.14-1.58). Our data indicate that SKT is involved in the etiology of LDH... - A functional single nucleotide polymorphism in the core promoter region of CALM1 is associated with hip osteoarthritis in JapaneseHideyuki Mototani
Laboratory for Bone and Joint Diseases, The Institute of Physical and Chemical Research RIKEN, 4 6 1 Shirokanedai, Minato ku, Tokyo 108 8639, Japan
Hum Mol Genet 14:1009-17. 2005..Our findings reveal the CALM1-mediated signaling pathway in chondrocytes as a novel potential target for treatment of OA... - An aspartic acid repeat polymorphism in asporin inhibits chondrogenesis and increases susceptibility to osteoarthritisHideki Kizawa
Laboratory for Bone and Joint Diseases, SNP Research Center, The Institute of Physical and Chemical Research RIKEN, 4 6 1 Shirokanedai, Minato ku, Tokyo 108 8639, Japan
Nat Genet 37:138-44. 2005..Taken together, these findings provide another functional link between extracellular matrix proteins, TGF-beta activity and disease, suggesting new therapeutic strategies for osteoarthritis... - Identification and characterization of the human long form of Sox5 (L-SOX5) geneToshiyuki Ikeda
Laboratory for Bone and Joint Diseases, SNP Research Center, RIKEN The Institute of Physical and Chemical Research, c o Institute of Medical Science, University of Tokyo, 4 6 1 Shirokanedai, Minato ku, Tokyo 108 8639, Japan
Gene 298:59-68. 2002..Like SOX6, L-SOX5 shows strong expression in chondrocytes and striated muscles, indicating a likely role in human cartilage and muscle development... - Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasiaAkihiko Mabuchi
Laboratory for Bone and Joint Deseases, SNP Research Center, RIKEN, c o Institute of Medical Science, University of Tokyo, Tokyo, Japan
Hum Genet 112:84-90. 2003..0024). These findings expand the mutation spectrum of the COMP gene and highlight genotype-phenotype relationships, facilitating improved genetic diagnosis and analysis of COMP function in humans... - Genetic analysis of osteoarthritis: toward identification of its susceptibility genesShiro Ikegawa
Laboratory for Bone and Joint Diseases, SNP Research Center, RIKEN, 4-6-1 Shirokanedai, Minato-ku, Tokyo 108-8639, Japan
J Orthop Sci 8:737-9. 2003 - Increase of serum growth hormone-binding protein in patients with ossification of the posterior longitudinal ligament of the spineS Ikegawa
Department of Orthopedics, Faculty of Medicine, University of Tokyo, Japan
Spine (Phila Pa 1976) 18:1757-60. 1993..These results, taken together with the hypothesis that serum GHBP reflects the number of GH receptors in tissue, suggest that GH receptors are increased in patients with OPLL... - A functional SNP in PSMA6 confers risk of myocardial infarction in the Japanese populationKouichi Ozaki
Laboratory for Cardiovascular Diseases, SNP Research Center, The Institute of Physical and Chemical Research RIKEN, 4 6 1, Shirokanedai, Minato ku, Tokyo 108 8639, Japan
Nat Genet 38:921-5. 2006..Our results implicate this PSMA6 SNP as a previously unknown genetic risk factor for myocardial infarction... - Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasiaAkihiko Mabuchi
Laboratory for Bone and Joint Diseases, SNP Research Center, RIKEN, 108 8639 Tokyo, Japan
Hum Mutat 24:439-40. 2004..120-127). Contrary to the previous assumption that the MATN3 mutation in MED is confined to the beta-sheet regions, one novel mutation (p.F105S) is located outside the beta-sheet region, within an alpha-helix region... - SNPs in BRAP associated with risk of myocardial infarction in Asian populationsKouichi Ozaki
Laboratory for Cardiovascular Diseases, Center for Genomic Medicine, RIKEN, Yokohama 230 0045, Japan
Nat Genet 41:329-33. 2009..BRAP knockdown by siRNA using cultured coronary endothelial cells suppressed activation of NF-kappaB, a central mediator of inflammation... - SOX9-dependent and -independent transcriptional regulation of human cartilage link proteinIkuyo Kou
Laboratory for Bone and Joint Diseases, SNP Research Center, RIKEN, Tokyo 108 8639, Japan
J Biol Chem 279:50942-8. 2004..The other showed cell type-specific SOX9-independent enhancer activity. These findings suggest that the enhancer elements may mediate differential expression of CRTL1 during chondrocyte differentiation and maturation... - Circulating COMP is decreased in pseudoachondroplasia and multiple epiphyseal dysplasia patients carrying COMP mutationsAkihiko Mabuchi
Laboratory for Bone and Joint Diseases, SNP Research Center, RIKEN, Tokyo, Japan
Am J Med Genet A 129:35-8. 2004..001). Our results indicate that circulating COMP levels reflect genetic abnormalities in COMP, providing an easier, more rapid and cost-efficient method for diagnosing PSACH and particularly for MED... - A functional SNP in ITIH3 is associated with susceptibility to myocardial infarctionYusuke Ebana
Laboratory for Cardiovascular Diseases, SNP Research Center, The Institute of Physical and Chemical Research RIKEN, 4 6 1 Shirokanedai, Minato ku, Tokyo 108 8639, Japan
J Hum Genet 52:220-9. 2007..Furthermore, we found expression of the ITIH3 protein in the vascular smooth muscle cells and macrophages in the human atherosclerotic lesions, suggesting ITIH3 SNP to be a novel genetic risk factor of MI... - Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndromeEiji Nakashima
Laboratory for Bone and Joint Diseases, SNP Research Center, RIKEN, c o Institute of Medical Science, University of Tokyo, 4 6 1 Shirokanedai, 108 8639 Minato ku, Tokyo, Japan
Hum Genet 114:345-8. 2004..Thus, gene conversion mutations in SBDS are common to different ethnic groups, but they are not confined to a limited region of the gene... - Expression and regulation of the osteoarthritis-associated protein asporinIkuyo Kou
Laboratory for Bone and Joint Disease, SNP Research Center, RIKEN, 4 6 1 Shirokanedai, Minato ku, Tokyo 108 8639, Japan
J Biol Chem 282:32193-9. 2007..Our findings indicate that TGF-beta1 induces ASPN through Smad3 but that this induction is indirect... - A functional SNP in EDG2 increases susceptibility to knee osteoarthritis in JapaneseHideyuki Mototani
Laboratory for Bone and Joint Diseases, RIKEN SNP Research Center, 4 6 1 Shirokanedai, Minato ku, Tokyo 108 8639, Japan
Hum Mol Genet 17:1790-7. 2008..The LPA receptor increased the expression of inflammatory cytokines and matrix metalloproteases in synovial cells. Our findings suggest that the LPA-EDG2 signal is involved in the pathogenesis of OA via catabolic process... - A type II collagen mutation also results in oto-spondylo-megaepiphyseal dysplasiaYoshinari Miyamoto
Laboratory for Bone and Joint Diseases, SNP Research Center, RIKEN, 4-6-1 Shirokanedai, Tokyo, 108-8639, Japan
Hum Genet 118:175-8. 2005..Thus, our findings highlight the genetic heterogeneity of OSMED and extend the phenotypic spectrum of type II collagenopathy, as well as confirming the overlap between type II and type XI collagenopathies... - Genomewide linkage and linkage disequilibrium analyses identify COL6A1, on chromosome 21, as the locus for ossification of the posterior longitudinal ligament of the spineToshihiro Tanaka
Division of Genetic Diagnosis, The Institute of Medical Science, University of Tokyo, Tokyo, Japan
Am J Hum Genet 73:812-22. 2003..Identification of the locus of susceptibility to OPLL by genomewide linkage and linkage disequilibrium studies permits us to investigate the pathogenesis of the disease, which may lead to the development of novel therapeutic tools... - [Genetic basis for skeletal disease. Genetic factors of osteoarthritis with particular reference to skeletal dysplasia]Shiro Ikegawa
Laboratory for Bone and Joint Diseases, Center for Genomic Medicine, RIKEN Japanese Skeletal Dysplasia Consortium
Clin Calcium 20:1166-73. 2010..In this paper, I review recent advance in the study of OA susceptibility genes with focus on the relation to disease genes for skeletal dysplasia... - The phenotypic spectrum of COL2A1 mutationsGen Nishimura
Department of Radiology, Tokyo Metropolitan Kiyose Children s Hospital, Tokyo, Japan
Hum Mutat 26:36-43. 2005..All six C-propeptide mutations produced a range of atypical skeletal phenotypes and created ocular, but not otolaryngological, changes... - Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasiaYuichiro Hirose
Laboratory for Bone and Joint Diseases, SNP Research Center, RIKEN, 4 6 1 Shirokanedai, Minato ku, Tokyo 108 8639, Japan
J Hum Genet 51:706-10. 2006..Through this analysis, we have identified a unique mutation spectrum and founder mutations in the Japanese population... - [Identification of asporin, a susceptibility gene for osteoarthritis]Shiro Ikegawa
Laboratory for Bone and Joint Diseases, SNP Research Center, RIKEN
Nippon Rinsho 63:459-62. 2005 - A large-scale genetic association study of ossification of the posterior longitudinal ligament of the spineTaizo Horikoshi
Laboratory for Bone and Joint Diseases, SNP Research Center, RIKEN, 4 6 1 Shirokanedai, Minato ku, Tokyo, 108 8639, Japan
Hum Genet 119:611-6. 2006..TGFB3 warrants further investigation because it is located within a genomic region that has been positively linked with OPLL... - The combination of SOX5, SOX6, and SOX9 (the SOX trio) provides signals sufficient for induction of permanent cartilageToshiyuki Ikeda
Laboratory for Bone and Joint Diseases, SNP Research Center, RIKEN The Institute of Physical and Chemical Research, University of Tokyo, 4 6 1 Shirokanedai, Minato ku, Tokyo 108 8639, Japan
Arthritis Rheum 50:3561-73. 2004..To regenerate permanent cartilage, it is crucial to know not only the necessary conditions for chondrogenesis, but also the sufficient conditions. The objective of this study was to determine the signal sufficient for chondrogenesis... - A functional SNP in CILP, encoding cartilage intermediate layer protein, is associated with susceptibility to lumbar disc diseaseShoji Seki
Laboratory for Bone and Joint Diseases, SNP Research Center, The Institute of Physical and Chemical Research RIKEN, 4 6 1 Shirokanedai, Minato ku, Tokyo 108 8639, Japan
Nat Genet 37:607-12. 2005..Our study also adds to the list of connective tissue diseases that are associated with TGF-beta... - A functional polymorphism in THBS2 that affects alternative splicing and MMP binding is associated with lumbar-disc herniationYuichiro Hirose
Laboratory for Bone and Joint Diseases, SNP Research Center, RIKEN, 4 6 1 Shirokanedai, Minato ku, Tokyo 108 8639, Japan
Am J Hum Genet 82:1122-9. 2008..Our data indicate that regulation of intervertebral disc ECM metabolism by the THBS2-MMP system plays an essential role in the etiology and pathogenesis of LDH... - Skewed X-chromosome inactivation causes intra-familial phenotypic variation of an EBP mutation in a family with X-linked dominant chondrodysplasia punctataShuya Shirahama
Center for Molecular Biology and Cytogenetics, SRL Inc, Hino shi, Tokyo, Japan
Hum Genet 112:78-83. 2003..The possibility that an apparently normal parent is a carrier should be considered when examining seemingly sporadic cases and providing genetic counseling to CDPX2 families... - A regulatory variant in CCR6 is associated with rheumatoid arthritis susceptibilityYuta Kochi
Laboratory for Autoimmune Diseases, Center for Genomic Medicine, RIKEN, Yokohama, Japan
Nat Genet 42:515-9. 2010..Moreover, CCR6DNP was associated with susceptibility to Graves' and Crohn's diseases. These results suggest that CCR6 is critically involved in IL-17-driven autoimmunity in human diseases... - Nucleotide variations in genes encoding carbonic anhydrase 8 and 10 associated with femoral bone mineral density in Japanese female with osteoporosisSeijiro Mori
Tokyo Metropolitan Geriatric Hospital, Tokyo, Japan
J Bone Miner Metab 27:213-6. 2009..00017). In addition, CA10 SNP, rs2106329, also displayed strong association with femoral BMD (P = 0.00002). The results suggest that the variations of CA8 and CA10 loci may be important determinants of osteoporosis in Japanese women... - Recent advances in association studies of osteoarthritis susceptibility genesJin Dai
Center for Genomic Medicine, RIKEN, Japan
J Hum Genet 55:77-80. 2010..However, we are now entering the era of genome-wide association studies (GWAS). Here, we review recent progress in the study of susceptibility genes for OA, focusing in particular on GWAS and large-scale replication studies... - Binding characteristics of the osteoarthritis-associated protein asporinIkuyo Kou
Laboratory for Bone and Joint Diseases, Center for Genomic Medicine, RIKEN, 4 6 1 Shirokanedai, Minato ku, Tokyo 108 8639, Japan
J Bone Miner Metab 28:395-402. 2010..These findings suggest that asporin is one of the important cartilage matrix proteins that binds to the ECM and TGF-beta1 and thereby modulates interactions between TGF-beta and its signaling receptors... - [Updates on ossification of posterior longitudinal ligament. Genetic approach to the susceptibility genes for ossification of posterior longitudinal ligament of the spine (OPLL) and for its molecular pathogenesis]Shiro Ikegawa
Laboratory for Bone and Joint Diseases, Center for Genomic Medicine, RIKEN
Clin Calcium 19:1457-61. 2009..Studies for the OPLL susceptibility genes mainly using linkage and association analyses are in progress mainly in Japan, and several genes have been reported. This paper reviewed the recent progress of the OPLL genetic study... - [Genomic study of susceptibility genes for common bone and joint diseases]Shiro Ikegawa
Laboratory for Bone and Joint Diseases, Center for Genomic Medicine, RIKEN
Nihon Rinsho 67:1134-8. 2009..Identification of the new genes will open a new window for the clarification of pathomechanism of the diseases and their treatment... - MATN and LAPTM are parts of larger transcription units produced by intergenic splicing: intergenic splicing may be a common phenomenonKoichi Maeda
Laboratory for Bone and Joint Diseases, SNP Research Center, The Institute of Physical and Chemical Research RIKEN, Shirokanedai, Minato ku, Tokyo, Japan
DNA Res 12:365-72. 2005..Given these findings, the number of gene in the human genome may be smaller than present estimates suggest... - A functional polymorphism in COL11A1, which encodes the alpha 1 chain of type XI collagen, is associated with susceptibility to lumbar disc herniationFutoshi Mio
Laboratory for Bone and Joint Diseases, School of Medicine, Keio University, Tokyo
Am J Hum Genet 81:1271-7. 2007..These observations indicate that type XI collagen is critical for IVD metabolism and that its decrease is related to LDH... - Distinct roles of Sox5, Sox6, and Sox9 in different stages of chondrogenic differentiationToshiyuki Ikeda
Division of Tissue Engineering, University of Tokyo Hospital, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-8655, Japan
J Bone Miner Metab 23:337-40. 2005 - Mechanisms for asporin function and regulation in articular cartilageMasahiro Nakajima
Laboratory for Bone and Joint Diseases, SNP Research Center, RIKEN, 4 6 1 Shirokanedai, Minato ku, Tokyo 108 8639, Japan
J Biol Chem 282:32185-92. 2007..Our results provide a basis for elucidating the role of asporin in the molecular pathogenesis of OA... - A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasiaKoichi Maeda
Laboratory for Bone and Joint Diseases, SNP Research Center, RIKEN, Shirokanedai, Tokyo, Japan
Am J Med Genet A 140:1143-7. 2006..G663R is a loss-of-function mutation. Our case supports the previously described correlation between the severity of the phenotype and the putative level of residual transport function... - CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variantTatsuya Furuichi
Center for Genomic Medicine, RIKEN, Tokyo, Japan
J Med Genet 48:32-7. 2011..Mutations in the gene that encodes for CANT1 (calcium-activated nucleotidase 1) have been identified in a subset of patients with DD type 1... - Transcriptional regulation of the cartilage intermediate layer protein (CILP) geneMasaki Mori
Laboratory for Bone and Joint Diseases, SNP Research Center, The Institute of Physical and Chemical Research RIKEN, Minato ku, Tokyo, Japan
Biochem Biophys Res Commun 341:121-7. 2006..These observations, together with the finding that CILP protein binds and inhibits TGF-beta1, suggest that CILP and TGF-beta1 may form a functional feedback loop that controls chondrocyte metabolism... - Novel COL9A3 mutation in a family with multiple epiphyseal dysplasiaEiji Nakashima
Laboratory for Bone and Joint Diseases, SNP Research Center, RIKEN, Tokyo, Japan
Am J Med Genet A 132:181-4. 2005..The radiographic phenotypes of the patients were relatively milder than those of previously reported cases, and were indistinguishable to common, idiopathic OA... - Association analysis of single nucleotide polymorphisms in cartilage-specific collagen genes with knee and hip osteoarthritis in the Japanese populationToshiyuki Ikeda
Laboratory for Bone and Joint Diseases, SNP Research Center, RIKEN The Institute of Physical and Chemical Research, Tokyo, Japan
J Bone Miner Res 17:1290-6. 2002..48). Haplotype analysis showed significant association between a specific haplotype of COL2A1 and hip OA (p = 0.024; OR = 1.30). Further analysis of these two genes will shed light on the molecular mechanisms of OA... - Common variants in DVWA on chromosome 3p24.3 are associated with susceptibility to knee osteoarthritisYoshinari Miyamoto
Laboratory for Bone and Joint Diseases, Center for Genomic Medicine, RIKEN, 4 6 1 Shirokanedai, Minato ku, Tokyo 108 8639, Japan
Nat Genet 40:994-8. 2008..The Tyr169-Cys260 isoform of DVWA, which is overrepresented in knee osteoarthritis, showed weaker interaction. Our findings reveal a new paradigm for study of osteoarthritis etiology and pathogenesis... - A compound heterozygote of novel and recurrent DTDST mutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasiaAtsushi Miyake
Laboratory for Bone and Joint Diseases, Center for Genomic Medicine, RIKEN, 4 6 1 Shirokanedai, Tokyo, 108 8639, Japan
J Hum Genet 53:764-8. 2008..T266I was predicted to be responsible for mild phenotypes of the DTD group. Our results further extend the phenotypic spectrum of DTDST mutations, adding Desbuquois dysplasia to the list of differential diagnosis of the DTD group... - [Bone and joint diseases in children. Skeletal dysplasia in children--unrecognized cases in daily practice]Shiro Ikegawa
Laboratory for Bone and Joint Diseases, Center for Genomic Medicine, RIKEN Japanese Skeletal Dysplasia Consortium
Clin Calcium 20:840-7. 2010..The collect diagnosis would lead to better treatment and care for patients and families... - Double-layered patella in multiple epiphyseal dysplasia is not exclusive to DTDST mutationEiji Nakashima
Am J Med Genet A 133:106-7. 2005 - Isolation, characterization and mapping of the mouse and human RB1CC1 genesTokuhiro Chano
Department of Clinical Laboratory Medicine, Shiga University of Medical Science, Tsukinowa cho, Seta, Otsu, Shiga 520 2192, Japan
Gene 291:29-34. 2002..2 and 57 kb on chromosome 1A2-4, respectively. Conserved sequence motifs and nuclear localization suggest that the RB1CC1 proteins function as transcription factors... - Comprehensive screening of multiple epiphyseal dysplasia mutations in Japanese populationTaichi Itoh
Center for Molecular Biology and Cytogenetics, SRL Inc, Hino, Japan
Am J Med Genet A 140:1280-4. 2006..Based on the integration of clinical and genetic information, we propose an algorithm for detecting mutations in Japanese MED patients. Our study further supports the existence of additional MED gene(s)... - Mutation in the von Willebrand factor-A domain is not a prerequisite for the MATN3 mutation in multiple epiphyseal dysplasiaKoichi Maeda
Am J Med Genet A 136:285-6. 2005 - A meta-analysis of European and Asian cohorts reveals a global role of a functional SNP in the 5' UTR of GDF5 with osteoarthritis susceptibilityKay Chapman
Institute of Musculoskeletal Sciences, Botnar Research Centre, Nuffield Orthopaedic Centre, University of Oxford, Oxford, UK
Hum Mol Genet 17:1497-504. 2008..0004, OR = 1.21) and the dominant model (P < 0.0001, OR = 1.48). These findings represent the first highly significant evidence for a risk factor for the development of OA which affects two highly diverse ethnic groups... - Novel and recurrent exon 13 mutations of COMP in pseudoachondroplasiaEiji Nakashima
Am J Med Genet A 132:108-9. 2005 - Lack of association of single nucleotide polymorphism in LRCH1 with knee osteoarthritis susceptibilityQing Jiang
Drum Tower Hospital, Medical School of Nanjing University, Nanjing, 210008, Jiangsu, China
J Hum Genet 53:42-7. 2008..06). The powers for European and Asian replication studies were less than 0.8. Our results suggest that there is no association between LRCH1 and knee OA. However, lack of association should be concluded by further replication studies... - Identification of DIO2 as a new susceptibility locus for symptomatic osteoarthritisIngrid Meulenbelt
Department of Molecular Epidemiology, Leiden University Medical Center, 2300 RC Leiden, The Netherlands
Hum Mol Genet 17:1867-75. 2008..Our results indicate a new susceptibility gene (DIO2) conferring risk to osteoarthritis... - A new patient with Lowry-Wood syndrome with mild phenotypeNicola Brunetti-Pierri
Department of Pediatrics, Federico II University, Naples, Italy
Am J Med Genet A 118:68-70. 2003..We report a new case of MED and microcephaly, without other additional features, suggesting a mild form of LWS. Molecular analysis of the cartilage oligomeric matrix protein (COMP) gene was performed and failed to find mutations...