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Genomes and Genes
Species | COL9A2SummaryGene 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
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Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome 1 containing a type IX collagen geneM 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.- Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathyGail 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... 
Type II and type IX collagen transcript isoforms are expressed during mouse testis developmentPeter 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...- Transcriptional mechanisms of chondrocyte differentiationB 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... - The United States Army Medical Department in low-intensity conflictC 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 .. - Antinematodal activity of some tropical rainforest plants against the pinewood nematode, Bursaphelenchus xylophilusY 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.)... - Automated production of several positron-emitting radiopharmaceuticals using a single laboratory robotJ 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... - T lymphocyte modification with the UTA microporous polyurethane vascular prosthesis: in vivo studies in ratsY 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)... - Chondrogenic differentiation potential of osteoarthritic chondrocytes and their possible use in matrix-associated autologous chondrocyte transplantationTilo 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.... - The medullipin system of blood pressure controlE 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... - COL9A3: A third locus for multiple epiphyseal dysplasiaP 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... - 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 sitesT 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 .. - Proton nuclear magnetic resonance spectroscopy of plasma lipoproteins in malignancyJ M Nabholtz
, UA33 CNRS, Faculte des Sciences, Hospital du Bocage, Villejuif, France
Acta Oncol 27:479-82. 1988A 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... - Premature vertebral endplate ossification and mild disc degeneration in mice after inactivation of one allele belonging to the Col2a1 gene for Type II collagenJ 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... - Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutationA 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)... - Sox9 is required for cartilage formationW 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... - Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutationsEveliina 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 .. - Molecular characterization of the equine collagen, type IX, alpha 2 (COL9A2) gene on horse chromosome 2p16-->p15C Boneker
Institute for Animal Breeding and Genetics, University of Veterinary Medicine Hannover, Hannover, Germany
Cytogenet Genome Res 115:107-14. 2006The 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... - Association study of COL9A2 with lumbar disc disease in the Japanese populationShoji Seki
Laboratory for Bone and Joint Diseases, SNP Research Center, RIKEN, 4 6 1 Shirokanedai, Minato ku, Tokyo, 108 8639, Japan
J Hum Genet 51:1063-7. 2006..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... - Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlationsMichael 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)... - 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 spineK Higashino
Department of Orthopedics, Institute of Health Biosciences, The University of Tokushima Graduate School, Tokushima, Japan
Int Orthop 31:107-11. 2007Tryptophan alleles in COL9A2 (Trp2) and COL9A3 (Trp3) have been linked to lumbar disc diseases in the Finnish population... - The TRP2 allele of COL9A2 is an age-dependent risk factor for the development and severity of intervertebral disc degenerationJeffrey 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... - 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... - The alpha 2 type IX collagen gene tryptophan polymorphism is not associated with rheumatoid arthritis in the Japanese populationYoichiro 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. 2006The 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 (.. - Intervertebral disc degeneration in relation to the COL9A3 and the IL-1ss gene polymorphismsSvetlana 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 .. - Collagen polymorphisms of the intervertebral discD 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 .. - The role of collagen IX tryptophan polymorphisms in symptomatic intervertebral disc disease in Southern European patientsStefanos 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... - Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasiaAkihiko Mabuchi
Laboratory for Bone and Joint Diseases, SNP Research Center, RIKEN, 108 8639 Tokyo, Japan
Hum Mutat 24:439-40. 2004..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... - The role of sequence variations within the genes encoding collagen II, IX and XI in non-syndromic, early-onset osteoarthritisE 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)... - EDM2 is required for RPP7-dependent disease resistance in Arabidopsis and affects RPP7 transcript levelsThomas 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... - 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 contributionGail 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)... - Type IX collagen neo-deposition in degenerative discs of surgical patients whether genotyped plus or minus for COL9 risk allelesYong 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... 
A haplotype at the COL9A2 gene locus contributes to the genetic risk for lumbar spinal stenosis in the Korean populationSeung 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...- 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 degenerationAnnu 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)... - Co-option of EDM2 to distinct regulatory modules in Arabidopsis thaliana developmentTokuji 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... - COL9A2 and COL9A3 mutations in canine autosomal recessive oculoskeletal dysplasiaOrly 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... - The Arabidopsis defense component EDM2 affects the floral transition in an FLC-dependent mannerTokuji 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. 2010Arabidopsis thaliana EDM2 was previously shown to be specifically required for disease resistance mediated by the R protein RPP7... - Evaluation of candidate genes as a cause of chondrodysplasia in Labrador retrieversJelke 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 .. - Multilayered patella: similar radiographic findings in pseudoachondroplasia and recessive multiple epiphyseal dysplasiaNithiwat 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... - Genetic factors are associated with modic changes in endplates of lumbar vertebral bodiesJaro Karppinen
Musculoskeletal Centre, Finnish Institute of Occupational Health, Oulu, Finland
Spine (Phila Pa 1976) 33:1236-41. 2008..A cross-sectional genotype-phenotype evaluation... - Expression of the Trp2 allele of COL9A2 is associated with alterations in the mechanical properties of human intervertebral discsDarwesh M K Aladin
Department of Orthopaedics and Traumatology, University of Hong Kong, Hong Kong, China
Spine (Phila Pa 1976) 32:2820-6. 2007Biomechanical study into the association between genetic polymorphism in COL9A2 and mechanical properties of human nucleus pulposus. - 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 populationMarkus 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... - Polymorphic microsatellite markers for genetic analysis of collagen genes in suspected collagenopathies in dogsJ 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... - The genetics of intervertebral disc degeneration. Associated genesLeonid 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... - Genetic associations in peripheral joint osteoarthritis and spinal degenerative disease: a systematic reviewJ 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..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)... - Occupational and genetic risk factors associated with intervertebral disc diseaseIita 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... - Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genesOk 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%)... - Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developmentsS 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... - Genomic organization and characterization of the human type XXI collagen (COL21A1) geneMin 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 .. - An allele of COL9A2 associated with intervertebral disc diseaseS 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, .. - Identification of novel pro-alpha2(IX) collagen gene mutations in two families with distinctive oligo-epiphyseal forms of multiple epiphyseal dysplasiaP 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... - Human COL9A1 and COL9A2 genes. Two genes of 90 and 15 kb code for similar polypeptides of the same collagen moleculeT Pihlajamaa
Biocenter and Department of Medical Biochemistry, University of Oulu, Finland
Matrix Biol 17:237-41. 1998Here 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... - A large family with multiple epiphyseal dysplasia linked to COL9A2 geneJ 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... - Molecular cloning of the alpha 3 chain of human type IX collagen: linkage of the gene COL9A3 to chromosome 20q13.3R G Brewton
Department of Cell Biology, University of Alabama at Birmingham 35294, USA
Genomics 30:329-36. 1995Type 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)... - Molecular cloning of the human alpha 2(IX) collagen cDNA and assignment of the human COL9A2 gene to chromosome 1M 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. - 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... - 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 complexM 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... - Department of veterans Affairs single-drug therapy of hypertension study. Revised figures and new data. Department of Veterans Affairs Cooperative Study Group on Antihypertensive AgentsB 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:.. - Multiple epiphyseal dysplasiaJohanna Dahlqvist
Department of Genetics and Pathology, The Rudbeck Laboratory, Uppsala University, Uppsala, Sweden
Acta Orthop 80:711-5. 2009Multiple 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... - Robotic production of 2-deoxy-2-[18F]fluoro-D-glucose: a routine method of synthesis using tetrabutylammonium [18F]fluorideJ 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]. - Theory of relaxation of mobile water protons induced by protein NH moieties, with application to rat heart muscle and calf lens homogenatesS 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... - Characterization of binding properties of the myelin-associated glycoprotein to extracellular matrix constituentsT 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... - Synthesis and biological behavior of a boronated analogue of the antiestrogen U 23,469-MF Wellmann
, Bundesrepublik Deutschland
Z Naturforsch C 46:252-6. 1991A 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... - Complete sequence of the 23-kilobase human COL9A3 gene. Detection of Gly-X-Y triplet deletions that represent neutral variantsP 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... - [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. 1999By 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, .. - The anticonvulsant activities of N-benzyl 3-methoxypropionamidesS 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)... - Magnetic resonance imaging findings in relation to the COL9A2 tryptophan allele among patients with sciaticaJaro 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... - Collagen II containing a Cys substitution for Arg-alpha1-519: abnormal interactions of the mutated molecules with collagen IXA Fertala
Department of Pathology and Molecular Medicine, School of Medicine, MCP Hahnemann University, Philadelphia, Pennsylvania 19102, USA
Biochemistry 40:14422-8. 2001.... - Clinical and radiographic features of multiple epiphyseal dysplasia not linked to the COMP or type IX collagen genesG 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 .. - Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasiaK 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)... - Identification of a novel common genetic risk factor for lumbar disk diseaseP 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. - Orientational disorder and motion of weakly attached cross-bridgesP 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)... - [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. 2000PURPOSE: 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... - Splicing mutations in the COL3 domain of collagen IX cause multiple epiphyseal dysplasiaJ 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... - Targeted disruption of the homeobox transcription factor Bapx1 results in lethal skeletal dysplasia with asplenia and gastroduodenal malformationH 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.... - Two antinematodal phenolics from Knema hookeriana, a Sumatran rainforest plantY 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... - Endoscopic foraminotomy using MED system in cadaveric specimensS 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... - 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 - 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... - A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneityM 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... - Matrix deposition of tryptophan-containing allelic variants of type IX collagen in developing human cartilageYoshito 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... - Structure of the glycosaminoglycan domain in the type IX collagen-proteoglycanD McCormick
Proc Natl Acad Sci U S A 84:4044-8. 1987.... - The genes encoding alpha 2(IX) collagen (COL9A2) map to human chromosome 1p32.3-p33 and mouse chromosome 4M 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... - Collagen type IX from human cartilage: a structural profile of intermolecular cross-linking sitesM 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... - Musculoskeletal differentiation of cells derived from human embryonic germ cellsMyoung 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... - 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 bondingJ 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...
Research Grants
- Molecular Biology of OsteoarthritisSergio 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 ..
- COLLAGENS OF CARTILAGE AND THE INTERVERTEBRAL DISCDavid 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...
- MUTATIONS CAUSING DISC DISEASE AND SCIATICALeena 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 ..
- MUTATIONS CAUSING DISC DISEASE AND SCIATICALEENA 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 ..
- PATHOLOGY OF INBORN SKELETAL DISEASESDavid 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 ..
- Genetic Control of Osteoblast DifferentiationBenoit 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. ..
- COLLAGEN CROSS-LINKING IN SKELETAL AGING AND DISEASEDavid Eyre; Fiscal Year: 2009..abstract_text> ..
- CONTROL OF CHONDROCYTE DIFFERENTIATIONBenoit 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. ..
- Genetic Control of Osteoblast DifferentiationBenoit de Crombrugghe; Fiscal Year: 2006..Overall, these experiments should greatly improve our understanding of the molecular mechanisms of osteoblast differentiation. ..
- Targeted mouse models for studying skeletal dysplasiaMichael 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) ..
- Collagen Diversity and Pathobiology in Skeletal TissuesDavid 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. ..
- BIOCHEMISTRY OF THE INTERVERTEBRAL DISCDavid 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...
- PATHOLOGY OF INBORN SKELETAL DISEASESDavid Eyre; Fiscal Year: 1999....
- PATHOLOGY OF INBORN SKELETAL DISEASESDavid 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...
- First Meeting of the American Society for Matrix BiologyBenoit 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. ..
- CELL-SPEC TRANS MECH CONTROLLING TYPE I COLLAGEN GENESBenoit de Crombrugghe; Fiscal Year: 2001..Together, these two studies will enhance our understanding of the molecular determinants underlying the differentiation of mesenchymal cell precursors. ..
- CONTROL OF TYPE I & III COLLAGEN GENES IN LUNG FIBROSISBenoit de Crombrugghe; Fiscal Year: 1992....