COL9A2

Summary

Gene Symbol: COL9A2
Description: collagen, type IX, alpha 2
Alias: DJ39G22.4, EDM2, MED, STL5, alpha 2 type IX collagen, collagen IX, alpha-2 polypeptide, collagen alpha-2(IX) chain
Species: human

Top Publications

  1. pmc Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome 1 containing a type IX collagen gene
    M D Briggs
    Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Cedars Sinai Medical Center, Los Angeles, CA 90048
    Am J Hum Genet 55:678-84. 1994
  2. ncbi A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2)
    Y Muragaki
    Department of Cell Biology, Harvard Medical School, Boston, Massachusetts 02115, USA
    Nat Genet 12:103-5. 1996
  3. ncbi Intrafamilial phenotypic diversity in multiple epiphyseal dysplasia associated with a COL9A2 mutation (EDM2)
    Mitsuhiko Takahashi
    Department of Orthopaedics, Institute of Health Biosciences, The University of Tokushima Graduate School, 3 18 15Kuramoto, 770 8503, Tokushima, Japan
    Clin Rheumatol 25:591-5. 2006
  4. ncbi Clinical phenotype and molecular diagnosis of multiple epiphyseal dysplasia with relative hip sparing during childhood (EDM2)
    J Fiedler
    Division for Biochemistry of Joint and Connective Tissue Diseases, University of Ulm, Ulm, Germany
    Am J Med Genet 112:144-53. 2002
  5. pmc Identification of novel pro-alpha2(IX) collagen gene mutations in two families with distinctive oligo-epiphyseal forms of multiple epiphyseal dysplasia
    P Holden
    Wellcome Trust Centre for Cell Matrix Research, School of Biological Sciences, University of Manchester, Manchester, England, United Kingdom
    Am J Hum Genet 65:31-8. 1999
  6. pmc Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy
    Gail C Jackson
    Wellcome Trust Centre for Cell Matrix Research, Faculty of Life Sciences, University of Manchester, Manchester, UK
    Am J Med Genet A 152:863-9. 2010
  7. ncbi Type II and type IX collagen transcript isoforms are expressed during mouse testis development
    Peter J McClive
    Murdoch Children s Research Institute and Department of Paediatrics, University of Melbourne, Royal Children s Hospital, Victoria 3052, Australia
    Biol Reprod 68:1742-7. 2003
  8. ncbi Transcriptional mechanisms of chondrocyte differentiation
    B de Crombrugghe
    Department of Molecular Genetics, The University of Texas, M D Anderson Cancer Center, 1515 Holcombe Blvd, Houston, TX 77030, USA
    Matrix Biol 19:389-94. 2000
  9. ncbi The United States Army Medical Department in low-intensity conflict
    C H Hood
    U.S. Army Academy of Health Sciences, Fort Sam Houston, TX
    Mil Med 156:64-7. 1991
  10. ncbi Antinematodal activity of some tropical rainforest plants against the pinewood nematode, Bursaphelenchus xylophilus
    Y Alen
    The Graduate School of Natural Science and Technology, Department of Applied Bioscience and Biotechnology, Okayama University, Japan
    Z Naturforsch C 55:295-9. 2000

Research Grants

  1. Molecular Biology of Osteoarthritis
    Sergio Jimenez; Fiscal Year: 2006
  2. COLLAGENS OF CARTILAGE AND THE INTERVERTEBRAL DISC
    David Eyre; Fiscal Year: 2007
  3. MUTATIONS CAUSING DISC DISEASE AND SCIATICA
    Leena Ala Kokko; Fiscal Year: 2003
  4. MUTATIONS CAUSING DISC DISEASE AND SCIATICA
    LEENA ALA KOKKA; Fiscal Year: 2001
  5. PATHOLOGY OF INBORN SKELETAL DISEASES
    David Eyre; Fiscal Year: 2004
  6. Genetic Control of Osteoblast Differentiation
    Benoit de Crombrugghe; Fiscal Year: 2010
  7. COLLAGEN CROSS-LINKING IN SKELETAL AGING AND DISEASE
    David Eyre; Fiscal Year: 2009
  8. CONTROL OF CHONDROCYTE DIFFERENTIATION
    Benoit de Crombrugghe; Fiscal Year: 2007
  9. Genetic Control of Osteoblast Differentiation
    Benoit de Crombrugghe; Fiscal Year: 2006
  10. Targeted mouse models for studying skeletal dysplasia
    Michael Briggs; Fiscal Year: 2005

Scientific Experts

  • F Acke
  • Akihiro Ishizu
  • G R Mortier
  • A Superti Furga
  • Jonathan J Ryder
  • Leonid Kalichman
  • Nithiwat Vatanavicharn
  • Tilo Dehne
  • A Fertala
  • J Karppinen
  • Benoit de Crombrugghe
  • Thomas Eulgem
  • David Eyre
  • Yoshito Matsui
  • Michael Briggs
  • S Unger
  • S Solovieva
  • P J McClive
  • Sergio Jimenez
  • Leena Ala Kokko
  • LEENA ALA KOKKA
  • Tokuji Tsuchiya
  • Gen Nishimura
  • Gail C Jackson
  • Shiro Ikegawa
  • L Ala-Kokko
  • P Paassilta
  • J Lohiniva
  • M Perala
  • Hirofumi Ohashi
  • Eiji Nakashima
  • M L Warman
  • Jeffrey J T Jim
  • Leena Ala-Kokko
  • Bent Brachvogel
  • Olivia S Sakhon
  • Nobuhiko Haga
  • Hiroshi Kitoh
  • Koichi Maeda
  • Rika Kosaki
  • Sarka Divisova
  • S Annunen
  • Yinghui Zhao
  • Tushar N Rathod
  • Sergei P Boudko
  • Akihiko Mabuchi
  • Andrea Superti-Furga
  • Jacqueline A Taylor
  • Ok Hwa Kim
  • Annu Näkki
  • Yong Zhu
  • Jelke Jan Smit
  • Seung Jae Hyun
  • Orly Goldstein
  • Brian Zhu
  • Y Alen
  • Johanna Dahlqvist
  • Minna Männikkö
  • D J Prockop
  • Markus Knoeringer
  • H Kroger
  • T Pihlajamaa
  • K Higashino
  • J Temwichitr
  • Darwesh M K Aladin
  • Iita M Virtanen
  • Yoichiro Takata
  • Taichi Itoh
  • Mitsuhiko Takahashi
  • Keith D K Luk
  • Shoji Seki
  • Kenneth M C Cheung
  • C Boneker
  • Jurg Ott
  • Natsuo Yasui
  • Danny Chan
  • Tomohiro Goto
  • Eveliina Jakkula
  • E Jakkula
  • Myoung Sook Kim
  • Stefanos N Kales
  • Pascal Bernard
  • S S Räinä
  • J Fiedler
  • Min Yuan Chou
  • Jeffrey J Gorman
  • Richard Wilson
  • Keyur Dave
  • John F Bateman
  • Manuel Koch

Detail Information

Publications98

  1. pmc Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome 1 containing a type IX collagen gene
    M D Briggs
    Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Cedars Sinai Medical Center, Los Angeles, CA 90048
    Am J Hum Genet 55:678-84. 1994
    ..this family, we have identified an MED locus on the short arm of chromosome 1, in a region containing the gene (COL9A2) that encodes the alpha 2 chain of type IX collagen, a structural component of the cartilage extracellular matrix.
  2. ncbi A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2)
    Y Muragaki
    Department of Cell Biology, Harvard Medical School, Boston, Massachusetts 02115, USA
    Nat Genet 12:103-5. 1996
  3. ncbi Intrafamilial phenotypic diversity in multiple epiphyseal dysplasia associated with a COL9A2 mutation (EDM2)
    Mitsuhiko Takahashi
    Department of Orthopaedics, Institute of Health Biosciences, The University of Tokushima Graduate School, 3 18 15Kuramoto, 770 8503, Tokushima, Japan
    Clin Rheumatol 25:591-5. 2006
    ..Genomic analysis for COL9A2 identified an Ex3-1A>G heterozygous mutation, which has been proved to result in skipping of exon 3...
  4. ncbi Clinical phenotype and molecular diagnosis of multiple epiphyseal dysplasia with relative hip sparing during childhood (EDM2)
    J Fiedler
    Division for Biochemistry of Joint and Connective Tissue Diseases, University of Ulm, Ulm, Germany
    Am J Med Genet 112:144-53. 2002
    ..Mutation screening of candidate regions revealed a novel point mutation at position -1 in the COL9A2 exon 3/intron 3 splicing region...
  5. pmc Identification of novel pro-alpha2(IX) collagen gene mutations in two families with distinctive oligo-epiphyseal forms of multiple epiphyseal dysplasia
    P Holden
    Wellcome Trust Centre for Cell Matrix Research, School of Biological Sciences, University of Manchester, Manchester, England, United Kingdom
    Am J Hum Genet 65:31-8. 1999
    ..to result in several types of MED, whereas mutations in the gene encoding the alpha2 chain of type IX collagen (COL9A2) have so far been found only in two families with the Fairbank type of MED...
  6. pmc Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy
    Gail C Jackson
    Wellcome Trust Centre for Cell Matrix Research, Faculty of Life Sciences, University of Manchester, Manchester, UK
    Am J Med Genet A 152:863-9. 2010
    ..mutations in the genes that encode type IX collagen, cartilage oligomeric matrix protein, and matrilin-3: COL9A1, COL9A2, COL9A3, COMP, and MATN3, respectively...
  7. ncbi Type II and type IX collagen transcript isoforms are expressed during mouse testis development
    Peter J McClive
    Murdoch Children s Research Institute and Department of Paediatrics, University of Melbourne, Royal Children s Hospital, Victoria 3052, Australia
    Biol Reprod 68:1742-7. 2003
    ..5 dpc. This was accompanied by increasing expression of nonchondrocytic Col9a1, Col9a2, and Col9a3, first detected at 11.5 dpc...
  8. ncbi Transcriptional mechanisms of chondrocyte differentiation
    B de Crombrugghe
    Department of Molecular Genetics, The University of Texas, M D Anderson Cancer Center, 1515 Holcombe Blvd, Houston, TX 77030, USA
    Matrix Biol 19:389-94. 2000
    ..chondrocyte differentiation and for expression of a series of chondrocyte-specific marker genes including Col2a1, Col9a2, Col11a2 and Aggrecan...
  9. ncbi The United States Army Medical Department in low-intensity conflict
    C H Hood
    U.S. Army Academy of Health Sciences, Fort Sam Houston, TX
    Mil Med 156:64-7. 1991
    ..Recently I participated in one large effort (USNS MERCY), commanded a second (MED EL, JTF-Bravo, Honduras), was "neighbor" and visitor to a third (Medical Assistance Team in El Salvador), and had ..
  10. ncbi Antinematodal activity of some tropical rainforest plants against the pinewood nematode, Bursaphelenchus xylophilus
    Y Alen
    The Graduate School of Natural Science and Technology, Department of Applied Bioscience and Biotechnology, Okayama University, Japan
    Z Naturforsch C 55:295-9. 2000
    ..of Bischofia javanica, Knema hookeriana and Areca catechu exhibited very strong activity at minimum effective dose (MED) of 0.7 mg/cotton ball (mg/bl.)...
  11. ncbi Automated production of several positron-emitting radiopharmaceuticals using a single laboratory robot
    J W Brodack
    Edward Mallinckrodt Institute of Radiology, Washington University School of Medicine, St Louis, MO 63110
    Int J Rad Appl Instrum A 39:689-98. 1988
    ..1986a) J. Nucl. Med. 27, 714] has been modified for the production of several short-lived radiopharmaceuticals in a single hot cell...
  12. ncbi T lymphocyte modification with the UTA microporous polyurethane vascular prosthesis: in vivo studies in rats
    Y Marois
    , ,
    Clin Invest Med 15:141-9. 1992
    ..developed by the University of Texas-Arlington group (UTA), and the Mitrathane prosthesis, as developed by Matrix Med., were implanted for 1, 2 and 6 weeks and compared with ePTFE and wounded rats without prostheses (control group)...
  13. pmc Chondrogenic differentiation potential of osteoarthritic chondrocytes and their possible use in matrix-associated autologous chondrocyte transplantation
    Tilo Dehne
    Tissue Engineering Laboratory and Berlin Brandenburg Center for Regenerative Therapies, Department of Rheumatology and Clinical Immunology, Charite Universitatsmedizin Berlin, Tucholskystrasse 2, Berlin, 10117, Germany
    Arthritis Res Ther 11:R133. 2009
    ....
  14. ncbi The medullipin system of blood pressure control
    E E Muirhead
    Department of Pathology, University of Tennessee, Memphis
    Am J Hypertens 4:556S-568S. 1991
    ..The RICs secrete medullipin I which is conveyed to the liver to be activated into Med II. This activation appears to involve the cytochrome P-450 dependent enzyme system of the liver...
  15. ncbi Inactivation of MED-1 elements in the TATA-less, initiator-less mouse thymidylate synthase promoter has no effect on promoter strength or the complex pattern of transcriptional start sites
    T L Rudge
    Department of Molecular Genetics, Ohio State University, Columbus 43210, USA
    J Cell Biochem 73:90-6. 1999
    ..An element (MED-1) downstream of the initiation window of almost all promoters of this family has been proposed to be important for ..
  16. pmc COL9A3: A third locus for multiple epiphyseal dysplasia
    P Paassilta
    Collagen Research Unit, Biocenter and Department of Medical Biochemistry, University of Oulu, Oulu, Finland
    Am J Hum Genet 64:1036-44. 1999
    ..The second locus, EDM2, maps to chromosome 1, in a region spanning COL9A2. Recently, a splice-site mutation was found in COL9A2, causing skipping of exon 3 in one family with MED...
  17. ncbi Premature vertebral endplate ossification and mild disc degeneration in mice after inactivation of one allele belonging to the Col2a1 gene for Type II collagen
    J Sahlman
    Department of Anatomy, University of Kuopio, FIN 70211 Kuopio, Finland
    Spine (Phila Pa 1976) 26:2558-65. 2001
    ..SUMMARY OF BACKGROUND DATA: Mutations in the COL2A1, COL11A1, COL11A2, and COL9A2 genes have been linked to spine disorders...
  18. ncbi Proton nuclear magnetic resonance spectroscopy of plasma lipoproteins in malignancy
    J M Nabholtz
    , UA33 CNRS, Faculte des Sciences, Hospital du Bocage, Villejuif, France
    Acta Oncol 27:479-82. 1988
    A recent study (N. Eng. J. Med. 315 (1986), 1369), described a method of detecting malignant tumors by water-suppressed proton nuclear magnetic resonance (1 H NMR) study of plasma...
  19. pmc Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation
    A Superti-Furga
    Division of Metabolic and Molecular Diseases, University Children s Hospital, Zurich, Switzerland
    J Med Genet 36:621-4. 1999
    ..epiphyseal dysplasia is more frequently caused by dominant mutations in the COMP (EDM1, McKusick 132400) and COL9A2 genes (EDM2, McKusick 600204)...
  20. ncbi Sox9 is required for cartilage formation
    W Bi
    Department of Molecular Genetics, The University of Texas, M D Anderson Cancer Center, Houston 77030, USA
    Nat Genet 22:85-9. 1999
    ..but are present as a juxtaposed mesenchyme that does not express the chondrocyte-specific markers Col2a1, Col9a2, Col11a2 and Agc. This exclusion occurred cell autonomously at the condensing mesenchyme stage of chondrogenesis...
  21. pmc Prohibitin regulates TGF-beta induced apoptosis as a downstream effector of Smad-dependent and -independent signaling
    Brian Zhu
    Department of Surgery, Division of Urology, University of Kentucky College of Medicine, Lexington, Kentucky, USA
    Prostate 70:17-26. 2010
    ..shRNA PHB loss of function in prostate cancer cells led to enhanced apoptotic response to TGF-beta via Smad-dependent mechanism...
  22. ncbi Novel COL9A3 mutation in a family with multiple epiphyseal dysplasia
    Eiji Nakashima
    Laboratory for Bone and Joint Diseases, SNP Research Center, RIKEN, Tokyo, Japan
    Am J Med Genet A 132:181-4. 2005
    ..Six causative genes of MED have been reported, including type IX collagen genes (COL9A1, COL9A2, COL9A3). All the type IX collagen mutations previously reported cause exon skipping that loses the COL3 domain...
  23. pmc NSD1 mitigates caspase-1 activation by listeriolysin O in macrophages
    Olivia S Sakhon
    Division of Biomedical Sciences, University of California Riverside, Riverside, California, United States of America
    PLoS ONE 8:e75911. 2013
    ..binding SET domain protein 1 (NSD1), a protein that bears similarity to the NLR regulator enhanced downy mildew 2 (EDM2) in Arabidopsis, diminishes caspase-1 activity during extracellular stimulation with Listeria monocytogenes ..
  24. ncbi Comprehensive screening of multiple epiphyseal dysplasia mutations in Japanese population
    Taichi Itoh
    Center for Molecular Biology and Cytogenetics, SRL Inc, Hino, Japan
    Am J Med Genet A 140:1280-4. 2006
    ..Six genes involved in MED, COMP, MATN3, COL9A1, COL9A2, COL9A3, and DTDST have been identified; however, the presence of additional disease genes has been reported, and ..
  25. ncbi Dimerization of SOX9 is required for chondrogenesis, but not for sex determination
    Pascal Bernard
    UCLA Department of Human Genetics, Gonda Center, Room 6357, 695 Charles Young Drive South, Los Angeles, CA 90095 7088, USA
    Hum Mol Genet 12:1755-65. 2003
    ..in the presence of the DNA enhancer element in genes involved in chondrocyte differentiation, such as Col11a2 and Col9a2, but binds as a monomer to the regulatory region of the sex-determining gene SF1...
  26. pmc Hearing impairment in Stickler syndrome: a systematic review
    Frederic R E Acke
    Department of Otorhinolaryngology, 1P1, Ghent University Ghent University Hospital, De Pintelaan 185, Ghent 9000, Belgium
    Orphanet J Rare Dis 7:84. 2012
    ..in different collagen genes, namely COL2A1, COL11A1 and COL11A2 (autosomal dominant inheritance), and COL9A1 and COL9A2 (autosomal recessive inheritance). The auditory phenotype in Stickler syndrome is inconsistently reported...
  27. pmc The NC2 domain of type IX collagen determines the chain register of the triple helix
    Sergei P Boudko
    Research Department, Shriners Hospital for Children, Portland, Oregan 97239, USA
    J Biol Chem 287:44536-45. 2012
    ..Differences in thermal stability and binding to the A3 domain unambiguously demonstrate that the NC2 domain of type IX collagen determines not only the chain composition but also the chain register of the adjacent triple helix...
  28. doi Prediabetes/early diabetes-associated neuropathy predominantly involves sensory small fibres
    Sarka Divisova
    Department of Neurology, University Hospital, University Hospital, Masaryk University Brno, Czech Republic
    J Peripher Nerv Syst 17:341-50. 2012
    ..was to investigate the characteristics of prediabetes (preDM) and early (<3 years) diabetes mellitus type 2 (eDM2)-associated neuropathy and the value of recently proposed diagnostic criteria for diabetic sensorimotor ..
  29. pmc Association between single nucleotide polymorphism in collagen IX and intervertebral disc disease in the Indian population
    Tushar N Rathod
    Department of Orthopaedics, Grant Medical College, Sir J J Group of Hospitals, Mumbai, India
    Indian J Orthop 46:420-6. 2012
    ..Mutations have been reported in COL9A2 and COL9A3 genes, which encode Collagen IX, in Finnish and various other populations...
  30. pmc Comparative proteomic analysis of normal and collagen IX null mouse cartilage reveals altered extracellular matrix composition and novel components of the collagen IX interactome
    Bent Brachvogel
    Center for Biochemistry, Medical Faculty, University of Cologne, Cologne 50931, Germany
    J Biol Chem 288:13481-92. 2013
    ..Collagen IX is an integral cartilage extracellular matrix component important in skeletal development and joint function...
  31. doi Evaluation of fetal skeletal malformations in deoxynivalenol-treated mice using microarray analysis
    Yinghui Zhao
    Department of Aetiology and Institute of Aetiology, Taishan Medical University, Taian 271000, Shandong, People s Republic of China
    Arch Environ Contam Toxicol 63:445-52. 2012
    ..It was confirmed that the mRNA expression of 4 genes, i.e., fibrillin-1, Col9A2, 3'-phosphoadenosine 5'-phosphosulfate synthase 2, and Pax1, was upregulated significantly by DON administration, ..
  32. pmc Mutations in EDM2 selectively affect silencing states of transposons and induce plant developmental plasticity
    Tokuji Tsuchiya
    Institute for Integrative Genome Biology, Center for Plant Cell Biology, Department of Botany and Plant Sciences, University of California at Riverside, Riverside, CA 92521, USA
    Sci Rep 3:1701. 2013
    We previously reported on the A. thaliana gene EDM2, which is required for several developmental processes and race-specific immunity...
  33. pmc Co-option of EDM2 to distinct regulatory modules in Arabidopsis thaliana development
    Tokuji Tsuchiya
    Department of Botany and Plant Sciences, Center for Plant Cell Biology, Institute for Integrative Genome Biology, University of California at Riverside, Riverside, CA 92521, USA
    BMC Plant Biol 10:203. 2010
    ..The Arabidopsis thaliana protein EDM2 is required for immunity mediated by the R gene RPP7...
  34. ncbi The role of sequence variations within the genes encoding collagen II, IX and XI in non-syndromic, early-onset osteoarthritis
    E Jakkula
    Collagen Research Unit, Biocenter and Department of Medical Biochemistry and Molecular Biology, University of Oulu, Oulu, Finland
    Osteoarthritis Cartilage 13:497-507. 2005
    ..We sought to determine whether sequence variations in cartilage collagen genes are associated with primary, early-onset osteoarthritis (OA)...
  35. ncbi EDM2 is required for RPP7-dependent disease resistance in Arabidopsis and affects RPP7 transcript levels
    Thomas Eulgem
    Department of Biology, CB 3280 University of North Carolina at Chapel Hill, NC 27599, USA
    Plant J 49:829-39. 2007
    ..We identified EDM2 (enhanced downy mildew 2) in a genetic screen for RPP7 suppressors...
  36. pmc Intervertebral disc degeneration in relation to the COL9A3 and the IL-1ss gene polymorphisms
    Svetlana Solovieva
    Department of Epidemiology and Biostatistics, Finnish Institute of Occupational Health, 00250 Helsink, Finland
    Eur Spine J 15:613-9. 2006
    ..Recently associations of COL9A2 (Trp2 allele) and COL9A3 (Trp3 allele) polymorphisms with lumbar disc disease characterized by sciatica have been ..
  37. ncbi Molecular characterization of the equine collagen, type IX, alpha 2 (COL9A2) gene on horse chromosome 2p16-->p15
    C Boneker
    Institute for Animal Breeding and Genetics, University of Veterinary Medicine Hannover, Hannover, Germany
    Cytogenet Genome Res 115:107-14. 2006
    The mammalian collagen, type IX, alpha 2 gene (COL9A2) encodes the alpha-2 chain of type IX collagen and is located on horse chromosome 2p16-->p14 harbouring a quantitative trait locus for osteochondrosis...
  38. ncbi The alpha 2 type IX collagen gene tryptophan polymorphism is not associated with rheumatoid arthritis in the Japanese population
    Yoichiro Takata
    Department of Orthopedics, Institute of Health Biosciences, The University of Tokushima Graduate School, 3 18 15 Kuramoto cho, Tokushima, 770 8503, Japan
    Clin Rheumatol 25:491-4. 2006
    The aim of this study was to investigate whether the alpha 2 type IX collagen (COL9A2) polymorphism that introduces tryptophan residue into the collagen triple-helix is a marker of susceptibility to, or severity of, rheumatoid arthritis (..
  39. ncbi Association study of COL9A2 with lumbar disc disease in the Japanese population
    Shoji 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
    ..a Finnish population, a single nucleotide polymorphism (SNP) causing an amino-acid substitution (Trp2 allele) in COL9A2, which encodes the alpha2 (IX) chain of type IX collagen, has been reported to associate with LDD...
  40. doi Expression of the Trp2 allele of COL9A2 is associated with alterations in the mechanical properties of human intervertebral discs
    Darwesh M K Aladin
    Department of Orthopaedics and Traumatology, University of Hong Kong, Hong Kong, China
    Spine (Phila Pa 1976) 32:2820-6. 2007
    Biomechanical study into the association between genetic polymorphism in COL9A2 and mechanical properties of human nucleus pulposus.
  41. ncbi The TRP2 allele of COL9A2 is an age-dependent risk factor for the development and severity of intervertebral disc degeneration
    Jeffrey J T Jim
    Department of Biochemistry, University of Hong Kong, Pokfulam, Hong Kong, China
    Spine (Phila Pa 1976) 30:2735-42. 2005
    ..Although they are common, the etiology of these conditions is poorly understood. A large population case-control study in the Southern Chinese was performed to study genetic risk factors to DDD...
  42. pmc The alpha2 type IX collagen tryptophan polymorphism is associated with the severity of disc degeneration in younger patients with herniated nucleus pulposus of the lumbar spine
    K Higashino
    Department of Orthopedics, Institute of Health Biosciences, The University of Tokushima Graduate School, Tokushima, Japan
    Int Orthop 31:107-11. 2007
    Tryptophan alleles in COL9A2 (Trp2) and COL9A3 (Trp3) have been linked to lumbar disc diseases in the Finnish population...
  43. pmc COL9A2 and COL9A3 mutations in canine autosomal recessive oculoskeletal dysplasia
    Orly Goldstein
    Baker Institute for Animal Health, Cornell University, Ithaca, NY 14853, USA
    Mamm Genome 21:398-408. 2010
    ..mutation in exon 1 of COL9A3 that cosegregates with drd1 and a 1,267-bp deletion mutation in the 5' end of COL9A2 that cosegregates with drd2. Both mutations affect the COL3 domain of the respective gene...
  44. ncbi Genetic associations in peripheral joint osteoarthritis and spinal degenerative disease: a systematic review
    J J Ryder
    School of Medicine, Health Policy and Practice, Institute of Health, University of East Anglia, Norwich NR4 7TJ, UK
    Ann Rheum Dis 67:584-91. 2008
    ..more than one study, and there were 14 cases in which significant associations were replicated in independent studies (at joints associated with the AGC1, ASPN, COL9A2, COL9A3, COL11A2, ESR1, FZRB, HFE, IL1A, IL1RN, PTGS2 and VDR genes).
  45. doi Candidate gene association study of magnetic resonance imaging-based hip osteoarthritis (OA): evidence for COL9A2 gene as a common predisposing factor for hip OA and lumbar disc degeneration
    Annu Näkki
    Institute for Molecular Medicine Finland FIMM, Biomedicum Helsinki 2U, University of Helsinki, Helsinki, Finland
    J Rheumatol 38:747-52. 2011
    ..To study whether gene variants associated with lumbar disc degeneration (LDD) phenotypes are also associated with hip osteoarthritis (OA)...
  46. doi A haplotype at the COL9A2 gene locus contributes to the genetic risk for lumbar spinal stenosis in the Korean population
    Seung Jae Hyun
    Department of Neurosurgery, Seoul National University Bundang Hospital, Seongnam, Republic of Korea
    Spine (Phila Pa 1976) 36:1273-8. 2011
    ..We conducted a cross-sectional, genotyping study in patients with lumbar spinal stenosis (LSS) and controls...
  47. doi The Arabidopsis defense component EDM2 affects the floral transition in an FLC-dependent manner
    Tokuji Tsuchiya
    Center for Plant Cell Biology, Institute for Integrative Genome Biology, Department of Botany and Plant Sciences, University of California at Riverside, Riverside, CA 92521, USA
    Plant J 62:518-28. 2010
    Arabidopsis thaliana EDM2 was previously shown to be specifically required for disease resistance mediated by the R protein RPP7...
  48. pmc Type IX collagen neo-deposition in degenerative discs of surgical patients whether genotyped plus or minus for COL9 risk alleles
    Yong Zhu
    Department of Orthopaedics and Sports Medicine, University of Washington, Seattle, WA 98195, USA
    Spine (Phila Pa 1976) 36:2031-8. 2011
    ..Immunohistochemical analysis of type IX collagen in disc tissue from spinal fusion patients...
  49. doi Evaluation of candidate genes as a cause of chondrodysplasia in Labrador retrievers
    Jelke Jan Smit
    Department of Clinical Sciences of Companion Animals, Faculty of Veterinary Medicine, Utrecht University, PO Box 80154, 3508 TD Utrecht, The Netherlands
    Vet J 187:269-71. 2011
    ..Possible involvement of eight candidate collagen genes (COL9A1, COL9A2, COL9A3, COMP, MATN3, COL2A1, COL11A1 and COL11A2) and of a sulfate transporter glycoprotein (SLC26A2) gene in ..
  50. pmc Multiple epiphyseal dysplasia
    Johanna Dahlqvist
    Department of Genetics and Pathology, The Rudbeck Laboratory, Uppsala University, Uppsala, Sweden
    Acta Orthop 80:711-5. 2009
    Multiple epiphyseal dysplasia (MED) is a common genetically and clinically heterogeneous skeletal dysplasia characterized by early-onset osteoarthritis, mainly in the hip and knee, and mild-to-moderate short stature...
  51. pmc Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution
    Gail C Jackson
    Wellcome Trust Centre for Cell Matrix Research, University of Manchester, Manchester, United Kingdom
    Hum Mutat 33:144-57. 2012
    ..is genetically heterogenous and can also result from mutations in matrilin-3 (MATN3) and type IX collagen (COL9A1, COL9A2, and COL9A3)...
  52. doi Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes
    Ok Hwa Kim
    Department of Radiology, Ajou University Hospital, Suwon, Korea
    Am J Med Genet A 155:2669-80. 2011
    ..Six genes known to be associated with MED (COMP, MATN3, COL9A1, COL9A2, COL9A3, and DTDST) were screened by sequencing. Mutations were found in 55 of the 63 patients (87%)...
  53. doi Multilayered patella: similar radiographic findings in pseudoachondroplasia and recessive multiple epiphyseal dysplasia
    Nithiwat Vatanavicharn
    Medical Genetics Institute, Cedars Sinai Medical Center, Los Angeles, California, USA
    Am J Med Genet A 146:1682-6. 2008
    ..However it has been recently reported in a dominant MED case with a COL9A2 mutation...
  54. doi The genetics of intervertebral disc degeneration. Associated genes
    Leonid Kalichman
    Boston University Clinical Epidemiology Research and Training Unit, University School of Medicine, 650 Albany St, Boston, MA 02118, USA
    Joint Bone Spine 75:388-96. 2008
    ..To review current knowledge on genes associated with intervertebral disk degeneration...
  55. doi Genetic factors are associated with modic changes in endplates of lumbar vertebral bodies
    Jaro Karppinen
    Musculoskeletal Centre, Finnish Institute of Occupational Health, Oulu, Finland
    Spine (Phila Pa 1976) 33:1236-41. 2008
    ..A cross-sectional genotype-phenotype evaluation...
  56. pmc Absence of the mutated Trp2 allele but a common polymorphism of the COL9A2 collagen gene is associated with early recurrence after lumbar discectomy in a German population
    Markus Knoeringer
    Klinikum rechts der Isar, Neurosurgery, Technical University, Munich, Germany
    Eur Spine J 17:463-7. 2008
    ..It has been shown previously that a tryptophan mutation of the COL9A2 gene is a major risk factor for LDD in a Finish population...
  57. ncbi Polymorphic microsatellite markers for genetic analysis of collagen genes in suspected collagenopathies in dogs
    J Temwichitr
    Department of Clinical Sciences of Companion Animals, Faculty of Veterinary Medicine, Utrecht University, P O Box 80154, 3508 TD Utrecht, The Netherlands
    J Vet Med A Physiol Pathol Clin Med 54:522-6. 2007
    ..The collagen genes COL3A1, COL5A1, COL5A2, COL6A1, COL6A3, COL9A1, COL9A2, COL9A3, COL10A1 and COL11A1 were identified on the canine genome based on the homology with the human genes...
  58. ncbi Occupational and genetic risk factors associated with intervertebral disc disease
    Iita M Virtanen
    Collagen Research Unit, Biocenter and Department of Medical Biochemistry and Molecular Biology, University of Oulu, Oulu, Finland
    Spine (Phila Pa 1976) 32:1129-34. 2007
    ..Cross-sectional epidemiologic study...
  59. pmc Orientational disorder and motion of weakly attached cross-bridges
    P G Fajer
    Department of Biochemistry, University of Minnesota Medical School, Minneapolis
    Biophys J 60:642-9. 1991
    ..1988. Adv. Exp. Med. Biol. 226:189-202)...
  60. ncbi Endoscopic foraminotomy using MED system in cadaveric specimens
    S W Roh
    Department of Neurosurgery, University of Florida, Gainesville, USA
    Spine (Phila Pa 1976) 25:260-4. 2000
    ..METHODS: Each of four cadavers had posterior cervical foraminotomies performed using either the MICROENDOSCOPIC (MED) technique, or the standard open technique...
  61. ncbi Splicing mutations in the COL3 domain of collagen IX cause multiple epiphyseal dysplasia
    J Lohiniva
    Biocenter and Department of Medical Biochemistry, University of Oulu, Finland
    Am J Med Genet 90:216-22. 2000
    ..gel electrophoresis in all known candidate genes for MED, cartilage oligomeric matrix protein, and the COL9A1, COL9A2, and COL9A3 genes coding for the alpha1, alpha2, and alpha3 chains of collagen IX...
  62. ncbi The anticonvulsant activities of N-benzyl 3-methoxypropionamides
    S V Andurkar
    Department of Chemistry, University of Houston, TX 77204-5641, USA
    Bioorg Med Chem 7:2381-9. 1999
    ..Stables, J.P., Kohn, H. Bioorg. Med. Chem. 1996, 4, 2105). This value is comparable to that observed for phenobarbital (ED50 = 22 mg/kg)...
  63. ncbi [A re-analysis of the Blue Mountain eye study on the risk of cataracts from inhaled corticosteroids. A contribution to objectifying the discussion]
    J Hartung
    Fachbereich Statistik,
    Pneumologie 53:411-6. 1999
    By a re-analysis of the Blue Mountains Eye Study of Cumming, Mitchell and Leeder, Published in N Engl J Med 1997 (337: 8-14), there is shown in the present article, that this study does not yield a contribution to clarify the question, ..
  64. ncbi Complete sequence of the 23-kilobase human COL9A3 gene. Detection of Gly-X-Y triplet deletions that represent neutral variants
    P Paassilta
    Collagen Research Unit, Biocenter and Department of Medical Biochemistry, University of Oulu, Kajaanintie 52A, FIN 90220 Oulu, Finland
    J Biol Chem 274:22469-75. 1999
    ..The domain and exon organization of the gene is almost identical to a related gene, the human COL9A2 gene. However, exon 2 of the COL9A3 gene codes for one -Gly-X-Y- triplet less than exon 2 of the COL9A2 gene...
  65. ncbi An allele of COL9A2 associated with intervertebral disc disease
    S Annunen
    Collagen Research Unit, Biocenter and Department of Medical Biochemistry, University of Oulu, 90220 Oulu, Finland
    Science 285:409-12. 1999
    ..The COL9A2 gene, which codes for one of the polypeptide chains of collagen IX that is expressed in the intervertebral disc, ..
  66. ncbi Human COL9A1 and COL9A2 genes. Two genes of 90 and 15 kb code for similar polypeptides of the same collagen molecule
    T Pihlajamaa
    Biocenter and Department of Medical Biochemistry, University of Oulu, Finland
    Matrix Biol 17:237-41. 1998
    Here we report the complete structure for the human COL9A1 and the complete sequence for the human COL9A2 genes. The COL9A1 gene is about 90 kb and consists of 38 exons. The COL9A2 gene is only about 15 kb, and it contains 32 exons...
  67. ncbi A large family with multiple epiphyseal dysplasia linked to COL9A2 gene
    J B van Mourik
    Department of Orthopedics, St Joseph Ziekenhuis, Veldhoven, The Netherlands
    Am J Med Genet 77:234-40. 1998
    ..In this family, a mutation in the COL9A2 gene was detected. Every affected person has involvement of the knee joints...
  68. ncbi Molecular cloning of the alpha 3 chain of human type IX collagen: linkage of the gene COL9A3 to chromosome 20q13.3
    R G Brewton
    Department of Cell Biology, University of Alabama at Birmingham 35294, USA
    Genomics 30:329-36. 1995
    Type IX collagen is composed of three polypeptides derived from the human genes COL9A1, COL9A2, and COL9A3 that assemble to form a mature collagen molecule with the structure alpha 1(IX)alpha 2(IX)alpha 3(IX)...
  69. ncbi Molecular cloning of the human alpha 2(IX) collagen cDNA and assignment of the human COL9A2 gene to chromosome 1
    M Perala
    Department of Medical Biochemistry, University of Turku, Finland
    FEBS Lett 319:177-80. 1993
    ..Localization of the COL9A2 gene to human chromosome 1 was subsequently performed using a panel of DNAs from human/rodent somatic cell hybrids.
  70. ncbi Physical and linkage mapping of the human and murine genes for the alpha 1 chain of type IX collagen (COL9A1)
    M L Warman
    Department of Anatomy and Cellular Biology, Harvard Medical School, Boston, Massachusetts 02115
    Genomics 17:694-8. 1993
    ..These data may facilitate linkage studies with COL9A1 (or Col9a1) as a candidate gene for hereditary chondrodysplasias and osteoarthritis...
  71. pmc The anticonvulsant and behavioural profile of L-687,414, a partial agonist acting at the glycine modulatory site on the N-methyl-D-aspartate (NMDA) receptor complex
    M D Tricklebank
    Merck Sharp and Dohme Research Laboratories, Neuroscience Research Centre, Harlow, Essex
    Br J Pharmacol 113:729-36. 1994
    ..induced impairments of performance in a rotarod test in both Swiss Webster and DBA/2 mice and the ratio [rotarod MED:anticonvulsant ED50] varied between 0.9 and 5, depending on the convulsant used. 4...
  72. ncbi Robotic production of 2-deoxy-2-[18F]fluoro-D-glucose: a routine method of synthesis using tetrabutylammonium [18F]fluoride
    J W Brodack
    Edward Mallinckrodt Institute of Radiology, Washington University School of Medicine, St Louis, MO 63110
    Int J Rad Appl Instrum A 39:699-703. 1988
    ..The procedure is a modification of the synthesis reported by Hamacher et al. [Hamacher et al. (1986) J. Nucl. Med. 27, 235].
  73. pmc Theory of relaxation of mobile water protons induced by protein NH moieties, with application to rat heart muscle and calf lens homogenates
    S H Koenig
    IBM T J Watson Research Center, Yorktown Heights, New York 10598
    Biophys J 53:91-6. 1988
    ..F., J.I. Clark, R.D. Brown III, M. Spiller, and S. H. Koenig, 1987. Abstr. Soc. Magn. Res. Med., 6th, New York...
  74. pmc Characterization of binding properties of the myelin-associated glycoprotein to extracellular matrix constituents
    T Fahrig
    Department of Neurobiology, University of Heidelberg, FRG
    EMBO J 6:2875-83. 1987
    ..These findings are in agreement with previous observations on the localization of MAG in basal lamina and interstitial collagens of the sciatic nerve in situ...
  75. ncbi Synthesis and biological behavior of a boronated analogue of the antiestrogen U 23,469-M
    F Wellmann
    , Bundesrepublik Deutschland
    Z Naturforsch C 46:252-6. 1991
    A boronated analogue of the antiestrogen U 23,469-M (D. Lednicer, D. W. Emmert, S. C. Lyster, and G. W. Duncan, J. Med. Chem. 12, 881 (1969] was prepared, for possible use in neutron capture therapy of estrogen receptor-positive tumors...
  76. ncbi Two antinematodal phenolics from Knema hookeriana, a Sumatran rainforest plant
    Y Alen
    The Graduate School of Natural Science and Technology, Department of Applied Bioscience and Biotechnology, Okayama University, Japan
    Z Naturforsch C 55:300-3. 2000
    ..led to the isolation and characterization of two phenolic antinematodal compounds with minimum effective dose (MED) of 4.5 and 20 microg/cotton ball (microg/bl.) or 0.018 and 0.073 microM/cotton ball (microM/bl.), respectively...
  77. ncbi Targeted disruption of the homeobox transcription factor Bapx1 results in lethal skeletal dysplasia with asplenia and gastroduodenal malformation
    H Akazawa
    Department of Cell Biology, The Cancer Institute, Japanese Foundation for Cancer Research, 1 37 1 Kami Ikebukuro, Toshima ku, Tokyo 170 8455, Japan
    Genes Cells 5:499-513. 2000
    ....
  78. ncbi Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations
    Eveliina Jakkula
    Collagen Research Unit, Biocenter and Department of Medical Biochemistry and Molecular Biology, University of Oulu, Oulu, Finland
    Eur J Hum Genet 13:292-301. 2005
    ..Mutations in six genes (COMP, COL9A1, COL9A2, COL9A3, MATN3 and DTDST) have been reported, but the genotype-phenotype correlations and the proportions of cases ..
  79. ncbi Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia
    Akihiko Mabuchi
    Laboratory for Bone and Joint Diseases, SNP Research Center, RIKEN, 108 8639 Tokyo, Japan
    Hum Mutat 24:439-40. 2004
    ..Six genes responsible for MED have been identified, including COMP, COL9A1, COL9A2, COL9A3, DSTDT and MATN3. MATN3 encodes matrilin-3, a cartilage-specific extracellular matrix protein...
  80. ncbi The role of collagen IX tryptophan polymorphisms in symptomatic intervertebral disc disease in Southern European patients
    Stefanos N Kales
    Occupational Health Program, Harvard School of Public Health, Boston, Massachusetts 02115, USA
    Spine (Phila Pa 1976) 29:1266-70. 2004
    ..We conducted a cross-sectional, genotyping study of intervertebral disc disease patients and controls...
  81. ncbi Collagen polymorphisms of the intervertebral disc
    D R Eyre
    University of Washington, Orthopaedic Research Laboratories, Box 356500, Seattle 98195 6500, USA
    Biochem Soc Trans 30:844-8. 2002
    ..In view of recent reports that common single nucleotide polymorphisms in COL9A2 and COL9A3 are linked to chronic sciatica associated with disc pathology, the specific interactions and role of ..
  82. ncbi Department of veterans Affairs single-drug therapy of hypertension study. Revised figures and new data. Department of Veterans Affairs Cooperative Study Group on Antihypertensive Agents
    B J Materson
    Cooperative Studies Program of the Medical Research Service, Department of Veterans Affairs, Miami, Florida, USA
    Am J Hypertens 8:189-92. 1995
    ..The original published success rate data (N Engl J Med 1993;328:914-921) were discovered to be in error due to a computer programming code omission (N Engl J Med 1994;330:..
  83. ncbi Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations
    Michael D Briggs
    Wellcome Trust Centre for Cell Matrix Research, School of Biological Sciences, University of Manchester, Manchester, UK
    Hum Mutat 19:465-78. 2002
    ..COMP) whereas various forms of MED are caused by mutations in the genes encoding COMP, type IX collagen (COL9A1, COL9A2, and COL9A3), matrilin-3 (MATN3), and solute carrier member 26, member 2 gene (SLC26A2)...
  84. ncbi Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments
    S Unger
    Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, Ontario, Canada
    Am J Med Genet 106:244-50. 2001
    ..Mutations causing MED have now been identified in five other genes (COL9A1, COL9A2, COL9A3, DTDST, and MATN3), making MED one of the most genetically heterogeneous disorders...
  85. ncbi Genomic organization and characterization of the human type XXI collagen (COL21A1) gene
    Min Yuan Chou
    Genomics Department, Biomedical Engineering Center, Industrial Technology Research Institute, Taiwan, Republic of China
    Genomics 79:395-401. 2002
    ..The exon/domain organization of COL21A1 resembles that of the reported FACIT collagen genes, including COL9A1, COL9A2, COL9A3, and COL19A1, suggesting that these genes may have derived from the same ancestor FACIT gene by ..
  86. ncbi Magnetic resonance imaging findings in relation to the COL9A2 tryptophan allele among patients with sciatica
    Jaro Karppinen
    Department of Physical Medicine and Rehabilitation, University of Oulu, Finland
    Spine (Phila Pa 1976) 27:78-83. 2002
    ..The phenotype of patients with sciatica who have the Trp2 allele is characterized cross-sectionally...
  87. ncbi [Validity of the clinical prediction rule for the diagnosis of renal arterial stenosis in hypertensive patients resistant to treatment]
    A Marquand
    Service de cardiologie,
    Arch Mal Coeur Vaiss 93:1041-5. 2000
    PURPOSE: To perform an external validation of the clinical prediction rule established by Krijnen et al. (Ann Intern Med 1998; 129: 705-11) designed to identify renal artery stenoses (RAS) in hypertensive patients...
  88. ncbi Identification of a novel common genetic risk factor for lumbar disk disease
    P Paassilta
    Department of Medical Biochemistry, University of Oulu, Aapistie 7, 90220 Oulu, Finland
    JAMA 285:1843-9. 2001
    ..A tryptophan (Trp) allele (Trp2) was recently discovered in the COL9A2 gene that is associated with dominantly inherited LDD but is only present in about 4% of Finnish patients with LDD.
  89. ncbi Collagen II containing a Cys substitution for Arg-alpha1-519: abnormal interactions of the mutated molecules with collagen IX
    A Fertala
    Department of Pathology and Molecular Medicine, School of Medicine, MCP Hahnemann University, Philadelphia, Pennsylvania 19102, USA
    Biochemistry 40:14422-8. 2001
    ....
  90. ncbi Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia
    K L Chapman
    Wellcome Trust Centre for Cell Matrix Research, School of Biological Sciences, University of Manchester, Manchester, UK
    Nat Genet 28:393-6. 2001
    ..Mutations in the genes encoding cartilage oligomeric matrix protein (COMP) and type IX collagen (COL9A2 and COL9A3) have previously been shown to cause different forms of MED (refs. 4-13)...
  91. ncbi Clinical and radiographic features of multiple epiphyseal dysplasia not linked to the COMP or type IX collagen genes
    G R Mortier
    Department of Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Eur J Hum Genet 9:606-12. 2001
    ..The condition is genetically heterogeneous. Mutations in the COMP gene and in two genes (COL9A2; COL9A3), coding respectively for the alpha2(IX) and alpha3(IX) chains of type IX collagen, can cause the ..
  92. ncbi Matrix deposition of tryptophan-containing allelic variants of type IX collagen in developing human cartilage
    Yoshito Matsui
    Orthopaedic Research Laboratories, Department of Orthopaedics and Sports Medicine, University of Washington, P O Box 356500, Seattle, WA 98195 6500, USA
    Matrix Biol 22:123-9. 2003
    ..Any pathological consequences are likely, therefore, to be long-term and indirect rather than from overt misassembly of matrix...
  93. pmc Structure of the glycosaminoglycan domain in the type IX collagen-proteoglycan
    D McCormick
    Proc Natl Acad Sci U S A 84:4044-8. 1987
    ....
  94. ncbi The genes encoding alpha 2(IX) collagen (COL9A2) map to human chromosome 1p32.3-p33 and mouse chromosome 4
    M L Warman
    Department of Cell Biology, Harvard Medical School, Boston, Massachusetts 02115
    Genomics 23:158-62. 1994
    ..b>COL9A2 was mapped to human chromosome 1p32.3-p33 using fluorescence in situ hybridization...
  95. pmc A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity
    M Czarny-Ratajczak
    Collagen Research Unit, Biocenter and Department of Medical Biochemistry, University of Oulu, Oulu, Finland
    Am J Hum Genet 69:969-80. 2001
    ..Mutations in four genes, COL9A2, COL9A3, COMP, and MATR3, all coding for cartilage extracellular matrix components (i.e...
  96. ncbi Identification of cross-linking sites in bovine cartilage type IX collagen reveals an antiparallel type II-type IX molecular relationship and type IX to type IX bonding
    J J Wu
    Orthopaedic Research Laboratories, University of Washington, Seattle 98195
    J Biol Chem 267:23007-14. 1992
    ..These data provide a molecular basis for the proposed function of type IX collagen as a critical contributor to the mechanical stability and resistance to swelling of the collagen type II fibril framework of cartilage...
  97. pmc Collagen type IX from human cartilage: a structural profile of intermolecular cross-linking sites
    M Diab
    Department of Orthopaedics, University of Washington, Seattle 98195 6500, USA
    Biochem J 314:327-32. 1996
    ..We also present evidence that, if the proteoglycan form of type IX collagen is present in human cartilage, it can only be a minor component of the matrix, similar to findings with bovine cartilage...
  98. ncbi Musculoskeletal differentiation of cells derived from human embryonic germ cells
    Myoung Sook Kim
    Department of Biomedical Engineering, Johns Hopkins University, 3400N Charles Street, Clark 106, Baltimore, Maryland 21218, USA
    Stem Cells 23:113-23. 2005
    ..Furthermore, our results indicate the ability to select or differentiate stem cells toward a musculoskeletal lineage from a heterogenous EBD cell line...

Research Grants65

  1. Molecular Biology of Osteoarthritis
    Sergio Jimenez; Fiscal Year: 2006
    ..Project 2 will examine the mechanisms by which different mutations in COL2AI and in COL9A2 result in specific phenotypes and will determine the effects of the mutations on collagen supramolecular assembly ..
  2. COLLAGENS OF CARTILAGE AND THE INTERVERTEBRAL DISC
    David Eyre; Fiscal Year: 2007
    ..how tryptophan (W)-containing allelic variants (polymorphisms) of two of the collagen IX chains (encoded by COL9A2 and COL9A3) can cause the reported increased risk of disc degeneration associated with these genotypes...
  3. MUTATIONS CAUSING DISC DISEASE AND SCIATICA
    Leena Ala Kokko; Fiscal Year: 2003
    ..have had surgery for herniated discs for mutations in eight candidate genes: three genes for collagen IX (COL9A1, COL9A2 and COL9A3), three genes for collagen XI (COL11A1, COL11A2 and COL11A3 or COL2A1), the aggrecan gene, and the gene ..
  4. MUTATIONS CAUSING DISC DISEASE AND SCIATICA
    LEENA ALA KOKKA; Fiscal Year: 2001
    ..have had surgery for herniated discs for mutations in eight candidate genes: three genes for collagen IX (COL9A1, COL9A2 and COL9A3), three genes for collagen XI (COL11A1, COL11A2 and COL11A3 or COL2A1), the aggrecan gene, and the gene ..
  5. PATHOLOGY OF INBORN SKELETAL DISEASES
    David Eyre; Fiscal Year: 2004
    ..Kniest dysplasia, a severe disorder caused by COL2A1 (collagen II) mutations; multiple epiphyseal dysplasia (MED), a mild-to-moderate skeletal dysplasia with early-onset osteoarthritis of knees and hips, caused by collagen IX or ..
  6. Genetic Control of Osteoblast Differentiation
    Benoit de Crombrugghe; Fiscal Year: 2010
    ..In another part of this project we will test the hypothesis that a specific chromatin protein, which we recently identified, controls the activity of Osterix in bones. ..
  7. COLLAGEN CROSS-LINKING IN SKELETAL AGING AND DISEASE
    David Eyre; Fiscal Year: 2009
    ..abstract_text> ..
  8. CONTROL OF CHONDROCYTE DIFFERENTIATION
    Benoit de Crombrugghe; Fiscal Year: 2007
    ..These experiments should greatly enhance our understanding of the mechanisms whereby Sox9 controls chondrocyte differentiation and may suggest new therapeutic approaches for cartilage diseases. ..
  9. Genetic Control of Osteoblast Differentiation
    Benoit de Crombrugghe; Fiscal Year: 2006
    ..Overall, these experiments should greatly improve our understanding of the molecular mechanisms of osteoblast differentiation. ..
  10. Targeted mouse models for studying skeletal dysplasia
    Michael Briggs; Fiscal Year: 2005
    ..we will generate knock-in mouse models of (i) pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) resulting from mutations in the C-terminal globular domain of cartilage oligomeric matrix protein (COMP), and (ii) ..
  11. Collagen Diversity and Pathobiology in Skeletal Tissues
    David R Eyre; Fiscal Year: 2010
    ..With this knowledge new targets for therapy and prevention of genetic and acquired human disorders of bones and joints are predicted. ..
  12. BIOCHEMISTRY OF THE INTERVERTEBRAL DISC
    David Eyre; Fiscal Year: 1993
    ..The basic studies in this proposal are aimed at an improved knowledge at the molecular level of how this complex collagen framework is assembled, how cells maintain it in the mature tissue and what happens to it in degeneration...
  13. PATHOLOGY OF INBORN SKELETAL DISEASES
    David Eyre; Fiscal Year: 1999
    ....
  14. PATHOLOGY OF INBORN SKELETAL DISEASES
    David Eyre; Fiscal Year: 1993
    ..Through an understanding of the effects of rare inborn mutations, so the normal properties of collagens and their variations can be better appreciated...
  15. First Meeting of the American Society for Matrix Biology
    Benoit de Crombrugghe; Fiscal Year: 2002
    ..However, for the initial meeting, we rely entirely on outside support. We are requesting $40,000 in NIH support for the 1st meeting. ..
  16. CELL-SPEC TRANS MECH CONTROLLING TYPE I COLLAGEN GENES
    Benoit de Crombrugghe; Fiscal Year: 2001
    ..Together, these two studies will enhance our understanding of the molecular determinants underlying the differentiation of mesenchymal cell precursors. ..
  17. CONTROL OF TYPE I & III COLLAGEN GENES IN LUNG FIBROSIS
    Benoit de Crombrugghe; Fiscal Year: 1992
    ....