Citations for
1ADAMTS7, COMP
ADAMTS7 Cleavage and Vascular Smooth Muscle Cell Migration Is Affected by a Coronary-Artery-Disease-Associated Variant.
Pu X, Xiao Q, Kiechl S, Chan K, Ng FL, Gor S, Poston RN, Fang C, Patel A, Senver EC, Shaw-Hawkins S, Willeit J, Liu C, Zhu J, Tucker AT, Xu Q, Caulfield MJ, Ye S.
Am J Hum Genet 92(3):366-74. doi: 10.1016/j.ajhg.2013.01.012. Epub 2013 Feb 14. 2013
2COL12A1, COL14A1, COMP
Collagen XII and XIV, new partners of cartilage oligomeric matrix protein in the skin extracellular matrix suprastructure.
Agarwal P, Zwolanek D, Keene DR, Schulz JN, Blumbach K, Heinegård D, Zaucke F, Paulsson M, Krieg T, Koch M, Eckes B.
J Biol Chem 287(27):22549-59. doi: 10.1074/jbc.M111.335935. 2012
3BMP2, COMP
Cartilage oligomeric matrix protein inhibits vascular smooth muscle calcification by interacting with bone morphogenetic protein-2.
Du Y, Wang Y, Wang L, Liu B, Tian Q, Liu CJ, Zhang T, Xu Q, Zhu Y, Ake O, Qi Y, Tang C, Kong W, Wang X.
Circ Res 108(8):917-28. Epub 2011 Feb 24. 2011
4COMP, ECM1
Interaction between cartilage oligomeric matrix protein and extracellular matrix protein 1 mediates endochondral bone growth.
Kong L, Tian Q, Guo F, Mucignat MT, Perris R, Sercu S, Merregaert J, Di Cesare PE, Liu CJ.
Matrix Biol 29(4):276-86. Epub 2010 Feb 4.PMID: 20138147 2010
5COMP
Cartilage oligomeric matrix protein promotes cell attachment via two independent mechanisms involving CD47 and alphaVbeta3 integrin.
Rock MJ, Holden P, Horton WA, Cohn DH.
Mol Cell Biochem 338(1-2):215-24. Epub 2009 Dec 24.PMID: 20033473 2010
6COMP, PSACH
Altered synthesis of cartilage-specific proteoglycans by mutant human cartilage oligomeric matrix protein.
Kwak YH, Roh JY, Lee KS, Park HW, Kim HW.
Clin Orthop Surg 1(4):181-7. Epub 2009 Nov 25.PMID: 19956474 2009
7COMP
N-terminal aliphatic residues dictate the structure, stability, assembly, and small molecule binding of the coiled-coil region of cartilage oligomeric matrix protein.
Gunasekar SK, Asnani M, Limbad C, Haghpanah JS, Hom W, Barra H, Nanda S, Lu M, Montclare JK.
Biochemistry 48(36):8559-67.PMID: 19681593 2009
8ADAMTS7, COMP
ADAMTS-7 mediates vascular smooth muscle cell migration and neointima formation in balloon-injured rat arteries.
Wang L, Zheng J, Bai X, Liu B, Liu CJ, Xu Q, Zhu Y, Wang N, Kong W, Wang X.
Circ Res 104(5):688-98. doi: 10.1161/CIRCRESAHA.108.188425. Epub 2009 Jan 22. 2009
9PSACH, COMP, SLC26A2, EDM4
Multilayered patella: similar radiographic findings in pseudoachondroplasia and recessive multiple epiphyseal dysplasia.
Vatanavicharn N, Lachman RS, Rimoin DL.
Am J Med Genet A 146A(13):1682-6. 2008
10COMP, EDM1, PSACH
COMP mutations: domain-dependent relationship between abnormal chondrocyte trafficking and clinical PSACH and MED phenotypes.
Chen TL, Posey KL, Hecht JT, Vertel BM.
J Cell Biochem 103(3):778-87.PMID: 17570134 2008
11COMP, PSACH
Reduced cell proliferation and increased apoptosis are significant pathological mechanisms in a murine model of mild pseudoachondroplasia resulting from a mutation in the C-terminal domain of COMP.
Pirog-Garcia KA, Meadows RS, Knowles L, Heinegard D, Thornton DJ, Kadler KE, Boot-Handford RP, Briggs MD.
Hum Mol Genet 16(17):2072-88. Epub 2007 Jun 22. 2007
12PSACH, COMP
Serum or plasma cartilage oligomeric matrix protein concentration as a diagnostic marker in pseudoachondroplasia: differential diagnosis of a family.
Tufan AC, Satiroglu-Tufan NL, Jackson GC, Semerci CN, Solak S, Yagci B.
Eur J Hum Genet 15(10):1023-8. Epub 2007 Jun 20. 2007
13COMP
Interaction of cartilage oligomeric matrix protein/thrombospondin 5 with aggrecan.
Chen FH, Herndon ME, Patel N, Hecht JT, Tuan RS, Lawler J.
J Biol Chem 282(34):24591-8. Epub 2007 Jun 22. 2007
14COMP
COMP acts as a catalyst in collagen fibrillogenesis.
Hal‡sz K, Kassner A, Mšrgelin M, HeinegŒrd D.
J Biol Chem 282(43):31166-73. Epub 2007 Aug 22. 2007
15COMP, PSACH
Expression of PSACH-associated mutant COMP in tendon fibroblasts leads to increased apoptotic cell death irrespective of the secretory characteristics of mutant COMP.
Weirich C, Keene DR, Kirsch K, Heil M, Neumann E, Dinser R.
Matrix Biol 26(4):314-23. Epub 2007 Jan 18. 2007
16COMP, PSACH, EDM1
The heritable determinants of cartilage oligomeric matrix protein.
Williams FM, Andrew T, Saxne T, Heinegard D, Spector TD, MacGregor AJ.
Arthritis Rheum 54(7):2147-51. 2006
17COMP, EDM1, PSACH
Cartilage oligomeric matrix protein is involved in human limb development and in the pathogenesis of osteoarthritis.
Koelling S, Clauditz TS, Kaste M, Miosge N.
Arthritis Res Ther 8(3):R56. Epub 2006 Mar 15. 2006
18ADAMTS7, COMP
ADAMTS-7: a metalloproteinase that directly binds to and degrades cartilage oligomeric matrix protein.
Liu CJ, Kong W, Ilalov K, Yu S, Xu K, Prazak L, Fajardo M, Sehgal B, Di Cesare PE.
FASEB J 20(7):988-90. Epub 2006 Apr 3. 2006
19ADAMTS12, COMP
ADAMTS-12 associates with and degrades cartilage oligomeric matrix protein.
Liu CJ, Kong W, Xu K, Luan Y, Ilalov K, Sehgal B, Yu S, Howell RD, Di Cesare PE.
J Biol Chem 281(23):15800-8. Epub 2006 Apr 12. 2006
20COMP, EDM1, PSACH
COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia.
Kennedy J, Jackson G, Ramsden S, Taylor J, Newman W, Wright MJ, Donnai D, Elles R, Briggs MD.
Eur J Hum Genet 13(5):547-55. 2005
21COMP, MATN3
COMP mutations, chondrocyte function and cartilage matrix.
Hecht JT, Hayes E, Haynes R, Cole WG.
Matrix Biol 23(8):525-33. Epub 2004 Nov 18. 2005
22COMP
In vivo human Cartilage oligomeric matrix protein (COMP) promoter activity.
Posey KL, Davies S, Bales ES, Haynes R, Sandell LJ, Hecht JT.
Matrix Biol 24(8):539-49. Epub 2005 Oct 7. 2005
23PSACH, COMP
Characterization of a pseudoachondroplasia-associated mutation (His587-->Arg) in the C-terminal, collagen-binding domain of cartilage oligomeric matrix protein (COMP).
Spitznagel L, Nitsche DP, Paulsson M, Maurer P, Zaucke F.
Biochem J 377(Pt 2):479-87. 2004
24ZBTB7A, COMP
Leukemia/lymphoma-related factor, a POZ domain-containing transcriptional repressor, interacts with histone deacetylase-1 and inhibits cartilage oligomeric matrix protein gene expression and chondrogenesis.
Liu CJ, Prazak L, Fajardo M, Yu S, Tyagi N, Di Cesare PE.
J Biol Chem 279(45):47081-91. Epub 2004 Aug 26. 2004
25COMP, EDM1, PSACH
Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia.
Mabuchi A, Manabe N, Haga N, Kitoh H, Ikeda T, Kawaji H, Tamai K, Hamada J, Nakamura S, Brunetti-Pierri N, Kimizuka M, Takatori Y, Nakamura K, Nishimura G, Ohashi H, Ikegawa S.
Hum Genet 112(1):84-90. 2003
26COMP, EDM1
A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations.
Jakkula E, Lohiniva J, Capone A, Bonafe L, Marti M, Schuster V, Giedion A, Eich G, Boltshauser E, Ala-Kokko L, Superti-Furga A.
J Med Genet 40(12):942-8. No abstract available. 2003
27PSACH, COMP, EDM1
Identification of cartilage oligomeric matrix protein (COMP) gene mutations in patients with pseudoachondroplasia and multiple epiphyseal dysplasia.
Song HR, Lee KS, Li QW, Koo SK, Jung SC.
J Hum Genet 48(5):222-5. Epub 2003 Apr 24. 2003
28COL9A1, COL9A2, COL9A3, COMP, EDM1, EDM2, EDM3, EDM5, EDM6, MATN3, PSACH, SLC26A2
Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations.
Briggs MD, Chapman KL.
Hum Mutat 19(5):465-78. Review. 2002
29COMP
Identification of sequence polymorphisms of the COMP (cartilage oligomeric matrix protein) gene and association study in osteoarthrosis of the knee and hip joints.
Mabuchi A, Ikeda T, Fukuda A, Koshizuka Y, Hiraoka H, Miyoshi K, Haga N, Kawaguchi H, Kawakami A, Yamamoto S, Takatori Y, Nakamura K, Ikegawa S.
J Hum Genet 46(8):456-62. 2001
30CD80, COMP, IL9R, IRF1, TNFRSF9
Identification of 142 single nucleotide polymorphisms in 41 candidate genes for rheumatoid arthritis in the Japanese population.
Yamada R, Tanaka T, Ohnishi Y, Suematsu K, Minami M, Seki T, Yukioka M, Maeda A, Murata N, Saiki O, Teshima R, Kudo O, Ishikawa K, Ueyosi A, Tateishi H, Inaba M, Goto H, Nishizawa Y, Tohma S, Ochi T, Yamamoto K, Nakamura Y.
Hum Genet 106(3):293-7. 2000
31COMP, PSACH
A cartilage oligomeric matrix protein mutation associated with pseudoachondroplasia changes the structural and functional properties of the type 3 domain.
Maddox BK, Mokashi A, Keene DR, Bachinger HP.
J Biol Chem 275(15):11412-7. 2000
32COMP
Cartilage oligomeric matrix protein is a calcium-binding protein, and a mutation in its type 3 repeats causes conformational changes.
Chen H, Deere M, Hecht JT, Lawler J.
J Biol Chem 275(34):26538-44. 2000
33COMP, EDM1, PSACH
Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) gene.
Delot E, King LM, Briggs MD, Wilcox WR, Cohn DH.
Hum Mol Genet 8 : 123-128. 1999
34COMP, EDM1, PSACH
Identification of nine novel mutations in cartilage oligomeric matrix protein in patients with pseudoachondroplasia and multiple epiphyseal dysplasia.
Deere M, et al.
Am J Med Genet 85(5):486-90. 1999
35COMP, EDM1, PSACH
Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum.
Briggs MD, Mortier GR, Cole WG, King LM, Golik SS, Bonaventure J, Nuytinck L, De Paepe A, Leroy JG, Biesecker L, Lipson M, Wilcox WR, Lachman RS, Rimoin DL, Knowlton RG, Cohn DH.
Am J Hum Genet 62(2):311-9. 1998
36COMP, PSACH
Identification of twelve mutations in cartilage oligomeric matrix protein (COMP) in patients with pseudoachondroplasia.
Deere M, et al.
Am J Med Genet 80 : 510-513. 1998
37COMP, EDM1, PSACH
Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia.
Ikegawa S, Ohashi H, Nishimura G, Kim KC, Sannohe A, Kimizuka M, Fukushima Y, Nagai T, Nakamura Y.
Hum Genet 103 : 633-638. 1998
38COMP, EDM1
Multiple epiphyseal dysplasia, Ribbing type : a novel point mutation in the COMP gene in a South African family.
Ballo R, et al.
Am J Med Genet 68 : 396-400. 1997
39COMP, EDM1, PSACH
Multiple epiphyseal dysplasia and pseudoachondroplasia due to novel mutations in the calmodulin-like repeats of cartilage oligomeric matrix protein.
Susic S, McGrory J, Ahier J, Cole WG.
Clin Genet 51(4):219-24. 1997
40COMP, MEF2B, GDF1
The identification of exons from the MED/PSACH region of human chromosome 19.
Li QY, Lennon GG, Brook JD.
Genomics 32 : 218-224. 1996
41COMP, PSACH
Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia.
Hecht JT, Nelson LD, Crowder E, Wang Y, Elder FF, Harrison WR, Francomano CA, Prange CK, Lennon GG, Deere M, et al.
Nat Genet 10 : 325-329. 1995
42COMP, EDM1, PSACH
Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene.
Briggs MD, Hoffman SM, King LM, Olsen AS, Mohrenweiser H, Leroy JG, Mortier GR, Rimoin DL, Lachman RS, Gaines ES, et al.
Nat Genet 10 : 330-336. 1995
43COMP
Characterization of human and mouse cartilage oligomeric matrix protein.
Newton G, Weremowicz S, Morton CC, Copeland NG, Gilbert DJ, Jenkins NA, Lawler J.
Genomics 24 : 435-439. 1994
44COMP
COMP (cartilage oligomeric matrix protein) is structurally related to the thrombospondins.
Oldberg A, Antonsson P, Lindblom K, Heinegard D.
J Biol Chem 267 : 22346-22350. 1992