| 1 | EDM1, EDM2, PSACH
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| Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.
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| Jackson GC, Mittaz-Crettol L, Taylor JA, Mortier GR, Spranger J, Zabel B, Le Merrer M, Cormier-Daire V, Hall CM, Offiah A, Wright MJ, Savarirayan R, Nishimura G, Ramsden SC, Elles R, Bonafe L, Superti-Furga A, Unger S, Zankl A, Briggs MD.
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| Hum Mutat 33(1):144-57. doi: 10.1002/humu.21611. Epub 2011 Oct 31.
2012
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| 2 | COMP, PSACH
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| Altered synthesis of cartilage-specific proteoglycans by mutant human cartilage oligomeric matrix protein.
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| Kwak YH, Roh JY, Lee KS, Park HW, Kim HW.
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| Clin Orthop Surg 1(4):181-7. Epub 2009 Nov 25.PMID: 19956474 2009
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| 3 | PSACH, COMP, SLC26A2, EDM4
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| Multilayered patella: similar radiographic findings in pseudoachondroplasia and recessive multiple epiphyseal dysplasia.
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| Vatanavicharn N, Lachman RS, Rimoin DL.
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| Am J Med Genet A 146A(13):1682-6. 2008
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| 4 | COMP, EDM1, PSACH
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| COMP mutations: domain-dependent relationship between abnormal chondrocyte trafficking and clinical PSACH and MED phenotypes.
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| Chen TL, Posey KL, Hecht JT, Vertel BM.
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| J Cell Biochem 103(3):778-87.PMID: 17570134 2008
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| 5 | COMP, PSACH
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| 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.
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| Pirog-Garcia KA, Meadows RS, Knowles L, Heinegard D, Thornton DJ, Kadler KE, Boot-Handford RP, Briggs MD.
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| Hum Mol Genet 16(17):2072-88. Epub 2007 Jun 22. 2007
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| 6 | PSACH, COMP
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| Serum or plasma cartilage oligomeric matrix protein concentration as a diagnostic marker in pseudoachondroplasia: differential diagnosis of a family.
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| Tufan AC, Satiroglu-Tufan NL, Jackson GC, Semerci CN, Solak S, Yagci B.
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| Eur J Hum Genet 15(10):1023-8. Epub 2007 Jun 20. 2007
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| 7 | COMP, PSACH
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| Expression of PSACH-associated mutant COMP in tendon fibroblasts leads to increased apoptotic cell death irrespective of the secretory characteristics of mutant COMP.
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| Weirich C, Keene DR, Kirsch K, Heil M, Neumann E, Dinser R.
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| Matrix Biol 26(4):314-23. Epub 2007 Jan 18.
2007
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| 8 | COMP, PSACH, EDM1
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| The heritable determinants of cartilage oligomeric matrix protein.
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| Williams FM, Andrew T, Saxne T, Heinegard D, Spector TD, MacGregor AJ.
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| Arthritis Rheum 54(7):2147-51. 2006
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| 9 | COMP, EDM1, PSACH
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| Cartilage oligomeric matrix protein is involved in human limb development and in the pathogenesis of osteoarthritis.
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| Koelling S, Clauditz TS, Kaste M, Miosge N.
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| Arthritis Res Ther 8(3):R56. Epub 2006 Mar 15. 2006
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| 10 | COMP, EDM1, PSACH
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| COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia.
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| Kennedy J, Jackson G, Ramsden S, Taylor J, Newman W, Wright MJ, Donnai D, Elles R, Briggs MD.
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| Eur J Hum Genet 13(5):547-55. 2005
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| 11 | PSACH, COMP
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| Characterization of a pseudoachondroplasia-associated mutation (His587-->Arg) in the C-terminal, collagen-binding domain of cartilage oligomeric matrix protein (COMP).
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| Spitznagel L, Nitsche DP, Paulsson M, Maurer P, Zaucke F.
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| Biochem J 377(Pt 2):479-87. 2004
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| 12 | COMP, EDM1, PSACH
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| Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia.
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| 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.
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| Hum Genet 112(1):84-90. 2003
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| 13 | PSACH, COMP, EDM1
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| Identification of cartilage oligomeric matrix protein (COMP) gene mutations in patients with pseudoachondroplasia and multiple epiphyseal dysplasia.
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| Song HR, Lee KS, Li QW, Koo SK, Jung SC.
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| J Hum Genet 48(5):222-5. Epub 2003 Apr 24. 2003
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| 14 | COL9A1, COL9A2, COL9A3, COMP, EDM1, EDM2, EDM3, EDM5, EDM6, MATN3, PSACH, SLC26A2
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| Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations.
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| Briggs MD, Chapman KL.
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| Hum Mutat 19(5):465-78. Review. 2002
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| 15 | COMP, PSACH
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| A cartilage oligomeric matrix protein mutation associated with pseudoachondroplasia changes the structural and functional properties of the type 3 domain.
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| Maddox BK, Mokashi A, Keene DR, Bachinger HP.
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| J Biol Chem 275(15):11412-7. 2000
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| 16 | COMP, EDM1, PSACH
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| Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) gene.
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| Delot E, King LM, Briggs MD, Wilcox WR, Cohn DH.
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| Hum Mol Genet 8 : 123-128. 1999
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| 17 | COMP, EDM1, PSACH
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| Identification of nine novel mutations in cartilage oligomeric matrix protein in patients with pseudoachondroplasia and multiple epiphyseal dysplasia.
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| Deere M, et al.
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| Am J Med Genet 85(5):486-90. 1999
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| 18 | COMP, EDM1, PSACH
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| Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum.
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| 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.
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| Am J Hum Genet 62(2):311-9. 1998
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| 19 | COMP, PSACH
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| Identification of twelve mutations in cartilage oligomeric matrix protein (COMP) in patients with pseudoachondroplasia.
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| Deere M, et al.
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| Am J Med Genet 80 : 510-513. 1998
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| 20 | COMP, EDM1, PSACH
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| Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia.
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| Ikegawa S, Ohashi H, Nishimura G, Kim KC, Sannohe A, Kimizuka M, Fukushima Y, Nagai T, Nakamura Y.
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| Hum Genet 103 : 633-638. 1998
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| 21 | PSACH, PSALD, SCNN1B
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| The diagnosis of Liddle syndrome by identification of a mutation in the beta subunit of the epithelial sodium channel.
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| Jackson SN, Williams B, Houtman P, Trembath RC.
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| J Med Genet 35(6):510-2. 1998
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| 22 | COMP, EDM1, PSACH
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| Multiple epiphyseal dysplasia and pseudoachondroplasia due to novel mutations in the calmodulin-like repeats of cartilage oligomeric matrix protein.
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| Susic S, McGrory J, Ahier J, Cole WG.
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| Clin Genet 51(4):219-24. 1997
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| 23 | COMP, PSACH
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| Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia.
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| Hecht JT, Nelson LD, Crowder E, Wang Y, Elder FF, Harrison WR, Francomano CA, Prange CK, Lennon GG, Deere M, et al.
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| Nat Genet 10 : 325-329. 1995
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| 24 | COMP, EDM1, PSACH
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| Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene.
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| Briggs MD, Hoffman SM, King LM, Olsen AS, Mohrenweiser H, Leroy JG, Mortier GR, Rimoin DL, Lachman RS, Gaines ES, et al.
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| Nat Genet 10 : 330-336. 1995
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| 25 | EDM1, PSACH
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| High-resolution genetic and physical mapping of multiple epiphyseal dysplasia and pseudoachondroplasia mutations at chromosome 19p13.1-p12.
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| Knowlton RG, et al.
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| Genomics 28 : 513-519. 1995
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| 26 | PSACH, EDM1
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| A large family with features of pseudoachondroplasia and multiple epiphyseal dysplasia : exclusion of seven candidate gene loci that encode proteins of the cartilage extracellular matrix.
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| Rimoin DL, et al.
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| Hum Genet 93 : 236-242. 1994
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| 27 | PSACH
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| Genetic linkage of mild pseudoachondroplasia (PSACH) to markers in the pericentromeric region of chromosome 19.
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| Briggs MD, et al.
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| Genomics 18 : 656-660. 1993
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| 28 | PSACH
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| Linkage of typical pseudoachondroplasia to chromosome 19.
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| Hecht JT, et al.
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| Genomics 18 : 661-666. 1993
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