COL9A2

Summary

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

Top Publications

  1. 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
  2. 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
  3. 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
  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. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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

Research Grants

  1. Molecular Biology of Osteoarthritis
    Sergio Jimenez; Fiscal Year: 2006
  2. MUTATIONS CAUSING DISC DISEASE AND SCIATICA
    Leena Ala Kokko; Fiscal Year: 2003
  3. Conference--Cartilage Biology and Pathology
    Benoit de Crombrugghe; Fiscal Year: 2003
  4. CELLULAR MECHANISMS IN SYNTHESIS OF EXTRACELLULAR MATRIX
    Benoit de Crombrugghe; Fiscal Year: 2003
  5. APPLIED BIOSYSTEMS-3730 DNA ANALYZER (48 capillary)
    Benoit de Crombrugghe; Fiscal Year: 2007
  6. CONTROL OF CHONDROCYTE DIFFERENTIATION
    Benoit de Crombrugghe; Fiscal Year: 2010
  7. COLLAGEN CROSS-LINKING IN SKELETAL AGING AND DISEASE
    David R Eyre; Fiscal Year: 2010
  8. CELL-SPEC TRANS MECH CONTROLLING TYPE I COLLAGEN GENES
    Benoit de Crombrugghe; Fiscal Year: 2001
  9. First Meeting of the American Society for Matrix Biology
    Benoit de Crombrugghe; Fiscal Year: 2002
  10. Targeted mouse models for studying skeletal dysplasia
    Michael Briggs; Fiscal Year: 2005

Scientific Experts

Detail Information

Publications118 found, 100 shown here

  1. 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
  2. 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...
  3. 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...
  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. 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...
  6. 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...
  7. 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...
  8. 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 ..
  9. 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...
  10. 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...
  11. 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)...
  12. 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.)...
  13. 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...
  14. pmc MicroRNA-145 regulates chondrogenic differentiation of mesenchymal stem cells by targeting Sox9
    Bo Yang
    Laboratory of Biomechanics, Department of Anatomy, The Third Military Medical University, Chongqing, People s Republic of China
    PLoS ONE 6:e21679. 2011
    ..genes, type II collagen (Col2a1), aggrecan (Agc1), cartilage oligomeric matrix protein (COMP), type IX collagen (Col9a2) and type XI collagen (Col11a1) in C3H10T1/2 cells induced by TGF-β3, whereas anti-miR-145 inhibitor increased ..
  15. doi Classification of Epstein-Barr virus-positive gastric cancers by definition of DNA methylation epigenotypes
    Keisuke Matsusaka
    Genome Science Division, Research Center for Advanced Science and Technology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan
    Cancer Res 71:7187-97. 2011
    ..g., CXXC4, TIMP2, and PLXND1), genes methylated both in EBV(+) and EBV(-)/high tumors (e.g., COL9A2, EYA1, and ZNF365), and genes methylated in all of the gastric cancers (e.g., AMPH, SORCS3, and AJAP1)...
  16. pmc Prediction of response to treatment by gene expression profiling of peripheral blood in patients with microscopic polyangiitis
    Akihiro Ishizu
    Faculty of Health Sciences, Hokkaido University, Sapporo, Japan
    PLoS ONE 8:e63182. 2013
    ..IRF7, IFIT1, IFIT5, OASL, CLC, GBP-1, PSMB9, HERC5, CCR1, CD36, MS4A4A, BIRC4BP, PLSCR1, DEFA1/DEFA3, DEFA4, and COL9A2 as the important genes that can predict the response to the treatment in patients with MPA at an early point ..
  17. pmc Antagonistic regulation of flowering time through distinct regulatory subunits of protein phosphatase 2A
    Behzad Heidari
    University of Stavanger, Centre for Organelle Research, Faculty of Science and Technology, Stavanger, Norway
    PLoS ONE 8:e67987. 2013
    ..and the floral integrator (FT, SOC1) were tested in WT, pp2a mutants, and two known flowering time mutants elf6 and edm2. The results are compatible with B55 acting at and/or downstream of the floral integrator, in a non-identified ..
  18. doi Differentiation of stem cells from human infrapatellar fat pad: characterization of cells undergoing chondrogenesis
    Raed Felimban
    1 Department of Surgery, St Vincent s Hospital, University of Melbourne, Fitzroy, Victoria, Australia
    Tissue Eng Part A 20:2213-23. 2014
    ..genes; 10 chondrogenic genes were upregulated (2- to 87-fold), including COL2A1, COL10A1, COL9A1, COL11A1, COL9A2, COL11A2, COL1A1, COMP, SOX9, and COL3A1...
  19. 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)...
  20. 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.
  21. 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 ..
  22. 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...
  23. 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...
  24. pmc Sequence variations in the collagen IX and XI genes are associated with degenerative lumbar spinal stenosis
    N Noponen-Hietala
    Collagen Research Unit, Biocentre and Department of Medical Biochemistry and Molecular Biology, University of Oulu, Oulu, Finland
    Ann Rheum Dis 62:1208-14. 2003
    ..Several genetic factors have been implicated in disc disease. Tryptophan alleles in COL9A2 and COL9A3 have been shown to be associated with lumbar disc disease in the Finnish population, and polymorphisms ..
  25. 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
    ....
  26. 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...
  27. doi EMSY-like genes are required for full RPP7-mediated race-specific immunity and basal defense in Arabidopsis
    Tokuji Tsuchiya
    Department of Botany and Plant Sciences, University of California, CA, USA
    Mol Plant Microbe Interact 24:1573-81. 2011
    The Arabidopsis thaliana gene enhanced downy mildew 2 (EDM2) encodes a nuclear protein required for RPP7-mediated race-specific disease resistance against Hyaloperonospora arabidopsidis, proper floral transition and additional ..
  28. pmc Arabidopsis EDM2 promotes IBM1 distal polyadenylation and regulates genome DNA methylation patterns
    Mingguang Lei
    Department of Horticulture and Landscape Architecture, Purdue University, West Lafayette, IN 47906
    Proc Natl Acad Sci U S A 111:527-32. 2014
    ..A forward genetics screen led to the identification of the putative chromatin regulator Enhanced Downy Mildew 2 (EDM2) as a cellular antisilencing factor and regulator of genome DNA methylation patterns...
  29. doi Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene
    Flavio Faletra
    Institute for Maternal and Child Health IRCCS Burlo Garofolo Trieste, Italy
    Am J Med Genet A 164:42-7. 2014
    ..STL 3, OMIM 184840) genes, while recessive forms have been associated with mutations of COL9A1 (OMIM 120210) and COL9A2 (OMIM 120260) genes...
  30. doi The role of polymorphisms of genes encoding collagen IX and XI in lumbar disc disease
    Łukasz Janeczko
    Neurosurgery Ward of St Rafael Hospital, Krakow, Poland Electronic address
    Neurol Neurochir Pol 48:60-2. 2014
    ..The allelic variants in the collagen IX genes - COL9A2 (Trp2) and COL9A3 (Trp3) have been identified as genetic risk factors for IDD, because they interfere the cross-..
  31. doi [Analysis of COL9A2 gene mutations in a Chinese Han population with pathological myopia]
    Rong Chen
    Zunyi Medical University, Zunyi, Guizhou 563000, P R China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 31:129-33. 2014
    To analyze the mutation of COL9A2 gene and investigate the molecular pathogenesis of pathological myopia in a Han Chinese population.
  32. doi Meta-analysis of the association between COL9A2 genetic polymorphisms and lumbar disc disease susceptibility
    Zhaobo Zhang
    From the Department of Orthopedics, Taizhou Central Hospital, Taizhou, Zhejiang Province, China
    Spine (Phila Pa 1976) 39:1699-706. 2014
    Meta-analysis to collect all the relevant studies to date to further investigate whether or not the COL9A2 gene rs12077871, rs12722877, and rs7533552 polymorphism are associated with susceptibility to lumbar disc disease (LDD).
  33. pmc The PHD-finger module of the Arabidopsis thaliana defense regulator EDM2 can recognize triply modified histone H3 peptides
    Tokuji Tsuchiya
    a Institute for Integrative Genome Biology Center for Plant Cell Biology Department of Botany and Plant Sciences University of California at Riverside Riverside, CA USA
    Plant Signal Behav 9:e29202. 2014
    Recently we reported that the Arabidopsis thaliana PHD-finger protein EDM2 (enhanced downy mildew 2) impacts disease resistance by affecting levels of di-methylated lysine 9 of histone H3 (H3K9me2) at an alternative polyadenylation site ..
  34. doi A suspected genetic form of bilateral osteochondritis dissecans of the knee in a Dutch family
    J Gorter
    Department of Orthopaedic Surgery, Martini Hospital, Groningen, The Netherlands Electronic address
    Knee 22:677-82. 2015
    ..Mutations of the aggrecan (ACAN) and COL9A2 genes are associated with familial OCD, but these patients present with syndromic features...
  35. ncbi MRI Phenotyping of COL9A2/Trp2 and COL9A3/Trp3 Alleles in Degenerative Disc Disease: a Case-Control Study in Southwestern Iranian Population Reveals a Significant Trp3-Disease Association in Males
    Mohammad H Bagheri
    Medical Imaging Research Center, Shiraz University of Medical Sciences, Shiraz, Iran Department of Radiology, Shiraz University of Medical Sciences, Shiraz, Iran Hematology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran Educational Development Centre, Shiraz University of Medical Sciences, Shiraz, Iran Department of Radiology, Brigham and Women s Hospital, Boston, Massachusetts, USA, Harvard Medical School, Boston, Massachusetts, USA, National Center for Biomedical Computing, Informatics for Integrating Biology and the Bedside i2b2, Boston, Massachusetts, USA
    Spine (Phila Pa 1976) . 2016
    A case-control study of the Trp2(3) alleles of COL9A2(3) genes and their correlation with occurrence of Degenerative Disc Disease (DDD), as phenotyped by magnetic resonance (MR) imaging.
  36. pmc Cardiomyocyte-Specific Ablation of Med1 Subunit of the Mediator Complex Causes Lethal Dilated Cardiomyopathy in Mice
    Yuzhi Jia
    Department of Pathology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, United States of America
    PLoS ONE 11:e0160755. 2016
    ..Data also showed up-regulation of about 180 genes including Tgfb2, Ace, Atf3, Ctgf, Angpt14, Col9a2, Wisp2, Nppa, Nppb, and Actn1 that are linked to cardiac muscle contraction, cardiac hypertrophy, cardiac fibrosis ..
  37. pmc Demethylation of ERECTA receptor genes by IBM1 histone demethylase affects stomatal development
    Yuhua Wang
    Shanghai Center for Plant Stress Biology, Shanghai Institute for Biological Sciences, Chinese Academy of Sciences, Shanghai 200032, China
    Development 143:4452-4461. 2016
    ..The chromatin regulator EDM2 is also required for prevention of genic DNA methylation because it maintains IBM1 expression by promoting IBM1 ..
  38. ncbi MRI Phenotyping of COL9A2/Trp2 and COL9A3/Trp3 Alleles in Lumbar Disc Disease: A Case-control Study in South-Western Iranian Population Reveals a Significant Trp3-Disease Association in Males
    Mohammad H Bagheri
    Medical Imaging Research Center, Shiraz University of Medical Sciences, Shiraz, Iran Department of Radiology, Shiraz University of Medical Sciences, Shiraz, Iran Hematology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran Educational Development Centre, Shiraz University of Medical Sciences, Shiraz, Iran Department of Radiology, Brigham and Women s Hospital, Boston, MA Harvard Medical School, Boston, MA National Center for Biomedical Computing, Informatics for Integrating Biology and the Bedside i2b2, Boston, MA
    Spine (Phila Pa 1976) 41:1661-1667. 2016
    A case-control study of the Trp2/3 alleles of COL9A2/3 genes and their correlation with occurrence of Lumbar disc disease (DDD) as phenotyped by magnetic resonance imaging.
  39. 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...
  40. 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...
  41. 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 ..
  42. 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...
  43. 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, ..
  44. 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...
  45. 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 ..
  46. 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...
  47. 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...
  48. 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...
  49. 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...
  50. 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 ..
  51. 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)...
  52. 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...
  53. 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...
  54. 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...
  55. 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].
  56. 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:..
  57. 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...
  58. 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...
  59. 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.
  60. 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)...
  61. 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...
  62. 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...
  63. 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, ..
  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 [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, ..
  66. 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)...
  67. 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...
  68. 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...
  69. 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...
  70. 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
    ....
  71. 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...
  72. 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.
  73. 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)...
  74. 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 ..
  75. 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
    ....
  76. 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...
  77. 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 ..
  78. 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...
  79. 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)...
  80. 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 ..
  81. 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...
  82. 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...
  83. 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 ..
  84. 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)...
  85. 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 ..
  86. 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 (..
  87. 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...
  88. 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...
  89. 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...
  90. 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...
  91. 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...
  92. 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...
  93. 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).
  94. 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...
  95. 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...
  96. 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.
  97. 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...
  98. 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...
  99. 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...

Research Grants10

  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. 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 ..
  3. Conference--Cartilage Biology and Pathology
    Benoit de Crombrugghe; Fiscal Year: 2003
    ..The conference will be held at the Holiday Inn Hotel, Ventura, California, March 16-21, 2003. They are requesting $25,000 in NIH support for the first Gordon Research Conference on the Biology and Pathology of Cartilage. ..
  4. CELLULAR MECHANISMS IN SYNTHESIS OF EXTRACELLULAR MATRIX
    Benoit de Crombrugghe; Fiscal Year: 2003
    ..These experiments will examine whether in the reconstituted chromatin system CBF, eventually in cooperation with other proteins, produces changes in chromatin structure that are essential for promoter activation. ..
  5. APPLIED BIOSYSTEMS-3730 DNA ANALYZER (48 capillary)
    Benoit de Crombrugghe; Fiscal Year: 2007
    ..It is critical that the DAF obtain a state of the art, 3730 Genetic Analyzer, so that the core can continue to provide NIH funded investigators with the latest technology to support cancer research. [unreadable] [unreadable] [unreadable]..
  6. CONTROL OF CHONDROCYTE DIFFERENTIATION
    Benoit de Crombrugghe; Fiscal Year: 2010
    ..These experiments should greatly enhance our understanding of the mechanisms whereby Sox9 controls chondrocyte differentiation and may suggest new therapeutic approaches for cartilage diseases. ..
  7. COLLAGEN CROSS-LINKING IN SKELETAL AGING AND DISEASE
    David R Eyre; Fiscal Year: 2010
    ..In parallel with basic tissue studies, collagen fragments in urine are being examined by similar methods as potential non-invasive biomarkers of a patient's bone and joint health. ..
  8. 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. ..
  9. 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. ..
  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) ..