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“Molecular analysis of the SMN gene mutations in spinal muscular atrophy patients in China”, vol. 12, pp. 3598-3604, 2013.
, “Novel and recurrent COL2A1 mutations in Chinese patients with spondyloepiphyseal dysplasia”, vol. 11, pp. 4130-4137, 2012.
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Bar-Yosef U, Ohana E, Hershkovitz E, Perlmuter S, et al. (2004). X-linked spondyloepiphyseal dysplasia tarda: a novel SEDL mutation in a Jewish Ashkenazi family and clinical intervention considerations. Am. J. Med. Genet. A 125A: 45-48.
http://dx.doi.org/10.1002/ajmg.a.20435
PMid:14755465
Borochowitz ZU, Scheffer D, Adir V, Dagoneau N, et al. (2004). Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD. J. Med. Genet. 41: 366-372.
http://dx.doi.org/10.1136/jmg.2003.013342
PMid:15121775 PMCid:1735768
Byers PH, Wallis GA and Willing MC (1991). Osteogenesis imperfecta: translation of mutation to phenotype. J. Med. Genet. 28: 433-442.
http://dx.doi.org/10.1136/jmg.28.7.433
PMid:1895312 PMCid:1016951
Faiyaz ul Haque M, King LM, Krakow D, Cantor RM, et al. (1998). Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse. Nat. Genet. 20: 157-162.
Fiedler J, Bergmann C and Brenner RE (2003). X-linked spondyloepiphyseal dysplasia tarda: molecular cause of a heritable disorder associated with early degenerative joint disease. Acta Orthop. Scand. 74: 737-741.
http://dx.doi.org/10.1080/00016470310018298
PMid:14763708
Freisinger P, Ala-Kokko L, LeGuellec D, Franc S, et al. (1994). Mutation in the COL2A1 gene in a patient with hypochondrogenesis. Expression of mutated COL2A1 gene is accompanied by expression of genes for type I procollagen in chondrocytes. J. Biol. Chem. 269: 13663-13669.
PMid:8175802
Gleghorn L, Ramesar R, Beighton P and Wallis G (2005). A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis. Am. J. Hum. Genet. 77: 484-490.
http://dx.doi.org/10.1086/444401
PMid:16080123 PMCid:1226213
Jung SC, Mathew S, Li QW, Lee YJ, et al. (2004). Spondyloepiphyseal dysplasia congenita with absent femoral head. J. Pediatr. Orthop. B 13: 63-69.
PMid:15076581
Kannu P, Bateman J and Savarirayan R (2012). Clinical phenotypes associated with type II collagen mutations. J. Paediatr. Child Health 48: E38-E43.
http://dx.doi.org/10.1111/j.1440-1754.2010.01979.x
PMid:21332586
Körkkö J, Cohn DH, Ala-Kokko L, Krakow D, et al. (2000). Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis. Am. J. Med. Genet. 92: 95-100.
http://dx.doi.org/10.1002/(SICI)1096-8628(20000515)92:2<95::AID-AJMG3>3.0.CO;2-9
Liao EY, Peng YQ, Zhou HD, Mackie EJ, et al. (2004). Gene symbol: WISP3. Disease: spondyloepihyseal dysplasia tarda with progressive arthropathy. Hum. Genet. 115: 174.
PMid:15300987
Nishimura G, Haga N, Kitoh H, Tanaka Y, et al. (2005). The phenotypic spectrum of COL2A1 mutations. Hum. Mutat. 26: 36-43.
http://dx.doi.org/10.1002/humu.20179
PMid:15895462
Nishimura G, Dai J, Lausch E, Unger S, et al. (2010). Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations. Am. J. Med. Genet. A 152A: 1443-1449.
PMid:20503319
Spranger J, Winterpacht A and Zabel B (1994). The type II collagenopathies: a spectrum of chondrodysplasias. Eur. J. Pediatr. 153: 56-65.
PMid:8157027
Thiele H, Sakano M, Kitagawa H, Sugahara K, et al. (2004). Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement. Proc. Natl. Acad. Sci. U. S. A. 101: 10155- 10160.
http://dx.doi.org/10.1073/pnas.0400334101
PMid:15215498 PMCid:454181
Tiller GE, Polumbo PA, Weis MA, Bogaert R, et al. (1995). Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type. Nat. Genet. 11: 87-89.
http://dx.doi.org/10.1038/ng0995-87
PMid:7550321
Unger S, Lausch E, Rossi A, Megarbane A, et al. (2010). Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features. Am. J. Med. Genet. A 152A: 2543-2549.
http://dx.doi.org/10.1002/ajmg.a.33641
PMid:20830804
Williams CJ, Rock M, Considine E, McCarron S, et al. (1995). Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519→Cys base substitution using conformation sensitive gel electrophoresis. Hum. Mol. Genet. 4: 309-312.
http://dx.doi.org/10.1093/hmg/4.2.309
PMid:7757086
Xia X, Cui Y, Huang Y, Pan L, et al. (2007). A first familial G504S mutation of COL2A1 gene results in distinctive spondyloepiphyseal dysplasia congenita. Clin. Chim. Acta 382: 148-150.
http://dx.doi.org/10.1016/j.cca.2007.04.005
PMid:17509551
Zhang Z, He JW, Fu WZ, Zhang CQ, et al. (2011). Identification of three novel mutations in the COL2A1 gene in four unrelated Chinese families with spondyloepiphyseal dysplasia congenita. Biochem. Biophys. Res. Commun. 413: 504-508.
http://dx.doi.org/10.1016/j.bbrc.2011.08.090
PMid:21924244
“Identification of novel and recurrent mutations in the calcium binding type III repeats of cartilage oligomeric matrix protein in patients with pseudoachondroplasia”, vol. 10, pp. 955-963, 2011.
, Ballo R, Briggs MD, Cohn DH, Knowlton RG, et al. (1997). Multiple epiphyseal dysplasia, ribbing type: a novel point mutation in the COMP gene in a South African family. Am. J. Med. Genet. 68: 396-400.
doi:10.1002/(SICI)1096-8628(19970211)68:4<396::AID-AJMG4>3.0.CO;2-K
Briggs MD and Chapman KL (2002). Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations. Hum. Mutat. 19: 465-478.
doi:10.1002/humu.10066
PMid:11968079
Briggs MD, Mortier GR, Cole WG, King LM, et al. (1998). Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum. Am. J. Hum. Genet. 62: 311- 319.
doi:10.1086/301713
PMid:9463320
Budde B, Blumbach K, Ylostalo J, Zaucke F, et al. (2005). Altered integration of matrilin-3 into cartilage extracellular matrix in the absence of collagen IX. Mol. Cell Biol. 25: 10465-10478.
doi:10.1128/MCB.25.23.10465-10478.2005
PMid:16287859 PMCid:1291247
Chen FH, Herndon ME, Patel N, Hecht JT, et al. (2007). Interaction of cartilage oligomeric matrix protein/thrombospondin 5 with aggrecan. J. Biol. Chem. 282: 24591-24598.
doi:10.1074/jbc.M611390200
PMid:17588949 PMCid:2905148
Chen H, Deere M, Hecht JT and Lawler J (2000). Cartilage oligomeric matrix protein is a calcium-binding protein, and a mutation in its type 3 repeats causes conformational changes. J. Biol. Chem. 275: 26538-26544.
doi:10.1074/jbc.M909780199
PMid:10852928
Chen TLL, Posey KL, Hecht JT and Vertel BM (2008). COMP mutations: domain-dependent relationship between abnormal chondrocyte trafficking and clinical PSACH and MED phenotypes. J. Cell Biochem. 103: 778-787.
doi:10.1002/jcb.21445
PMid:17570134
Deere M, Sanford T, Ferguson HL, Daniels K, et al. (1998). Identification of twelve mutations in cartilage oligomeric matrix protein (COMP) in patients with pseudoachondroplasia. Am. J. Med. Genet. 80: 510-513.
doi:10.1002/(SICI)1096-8628(19981228)80:5<510::AID-AJMG14>3.0.CO;2-F
Deere M, Sanford T, Francomano CA, Daniels K, et al. (1999). Identification of nine novel mutations in cartilage oligomeric matrix protein in patients with pseudoachondroplasia and multiple epiphyseal dysplasia. Am. J. Med. Genet. 85: 486-490.
doi:10.1002/(SICI)1096-8628(19990827)85:5<486::AID-AJMG10>3.0.CO;2-O
Fairbank HA (1946). Dysplasia epiphysealis multiplex. Proc. R. Soc. Med. 39: 315-317.
PMCid:2181808
Hashimoto Y, Tomiyama T, Yamano Y and Mori H (2003). Mutation (D472Y) in the type 3 repeat domain of cartilage oligomeric matrix protein affects its early vesicle trafficking in endoplasmic reticulum and induces apoptosis. Am. J. Pathol. 163: 101-110.
doi:10.1016/S0002-9440(10)63634-6
Hecht JT, Makitie O, Hayes E, Haynes R, et al. (2004). Chondrocyte cell death and intracellular distribution of COMP and type IX collagen in the pseudoachondroplasia growth plate. J. Orthop. Res. 22: 759-767.
doi:10.1016/j.orthres.2003.11.010
PMid:15183431
Hecht JT, Hayes E, Haynes R and Cole WG (2005). COMP mutations, chondrocyte function and cartilage matrix. Matrix Biol. 23: 525-533.
doi:10.1016/j.matbio.2004.09.006
PMid:15694129
Hedbom E, Antonsson P, Hjerpe A, Aeschlimann D, et al. (1992). Cartilage matrix proteins. An acidic oligomeric protein (COMP) detected only in cartilage. J. Biol. Chem. 267: 6132-6136.
PMid:1556121
Hou J, Putkey JA and Hecht JT (2000). Delta 469 mutation in the type 3 repeat calcium binding domain of cartilage oligomeric matrix protein (COMP) disrupts calcium binding. Cell Calcium 27: 309-314.
doi:10.1054/ceca.2000.0125
PMid:11013461
Ikegawa S, Ohashi H, Nishimura G, Kim KC, et al. (1998). Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia. Hum. Genet. 103: 633-638.
doi:10.1007/s004390050883
PMid:9921895
Kennedy J, Jackson G, Ramsden S, Taylor J, et al. (2005a). COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia. Eur. J. Hum. Genet. 13: 547-555.
doi:10.1038/sj.ejhg.5201374
PMid:15756302 PMCid:2673054
Kennedy J, Jackson GC, Barker FS, Nundlall S, et al. (2005b). Novel and recurrent mutations in the C-terminal domain of COMP cluster in two distinct regions and result in a spectrum of phenotypes within the pseudoachondroplasia - multiple epiphyseal dysplasia disease group. Hum. Mutat. 25: 593-594.
doi:10.1002/humu.9342
PMid:15880723
Kleerekoper Q, Hecht JT and Putkey JA (2002). Disease-causing mutations in cartilage oligomeric matrix protein cause an unstructured Ca2+ binding domain. J. Biol. Chem. 277: 10581-10589.
doi:10.1074/jbc.M109944200
PMid:11782471
Kozlowski K (1976). Pseudoachondroplastic dysplasia (Maroteaux-Lamy): a critical analysis. Australas. Radiol. 20: 255-269.
doi:10.1111/j.1440-1673.1976.tb02033.x
PMid:828853
Kwak YH, Roh JY, Lee KS, Park HW, et al. (2009). Altered synthesis of cartilage-specific proteoglycans by mutant human cartilage oligomeric matrix protein. Clin. Orthop. Surg. 1: 181-187.
doi:10.4055/cios.2009.1.4.181
PMid:19956474 PMCid:2784957
Loughlin J, Irven C, Mustafa Z, Briggs MD, et al. (1998). Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia. Hum. Mutat. (Suppl 1): S10-S17.
doi:10.1002/humu.1380110105
Mabuchi A, Haga N, Ikeda T, Manabe N, et al. (2001). Novel mutation in exon 18 of the cartilage oligomeric matrix protein gene causes a severe pseudoachondroplasia. Am. J. Med. Genet. 104: 135-139.
doi:10.1002/ajmg.10067
PMid:11746044
Mabuchi A, Manabe N, Haga N, Kitoh H, et al. (2003). Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia. Hum. Genet. 112: 84-90.
doi:10.1007/s00439-002-0845-9
PMid:12483304
Mabuchi A, Momohara S, Ohashi H, Takatori Y, et al. (2004). Circulating COMP is decreased in pseudoachondroplasia and multiple epiphyseal dysplasia patients carrying COMP mutations. Am. J. Med. Genet. A 129A: 35-38.
doi:10.1002/ajmg.a.30164
PMid:15266613
Maddox BK, Mokashi A, Keene DR and Bachinger HP (2000). A cartilage oligomeric matrix protein mutation associated with pseudoachondroplasia changes the structural and functional properties of the type 3 domain. J. Biol. Chem. 275: 11412-11417.
doi:10.1074/jbc.275.15.11412
PMid:10753957
Malashkevich VN, Kammerer RA, Efimov VP, Schulthess T, et al. (1996). The crystal structure of a five-stranded coiled coil in COMP: a prototype ion channel? Science 274: 761-765.
doi:10.1126/science.274.5288.761
PMid:8864111
Merritt TM, Bick R, Poindexter BJ, Alcorn JL, et al. (2007). Unique matrix structure in the rough endoplasmic reticulum cisternae of pseudoachondroplasia chondrocytes. Am. J. Pathol. 170: 293-300.
doi:10.2353/ajpath.2007.060530
PMid:17200202 PMCid:1762700
Nakashima E, Mabuchi A, Kubota M, Ishikiriyama S, et al. (2005). Novel and recurrent exon 13 mutations of COMP in pseudoachondroplasia. Am. J. Med. Genet. A 132A: 108-109.
doi:10.1002/ajmg.a.30348
PMid:15523619
Newton G, Weremowicz S, Morton CC, Copeland NG, et al. (1994). Characterization of human and mouse cartilage oligomeric matrix protein. Genomics 24: 435-439.
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PMid:1429587
Piróg-Garcia KA, Meadows RS, Knowles L, Heinegard D, et al. (2007). 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. Hum. Mol. Genet. 16: 2072-2088.
doi:10.1093/hmg/ddm155
PMid:17588960 PMCid:2674228
Schmitz M, Becker A, Schmitz A, Weirich C, et al. (2006). Disruption of extracellular matrix structure may cause pseudoachondroplasia phenotypes in the absence of impaired cartilage oligomeric matrix protein secretion. J. Biol. Chem. 281: 32587-32595.
doi:10.1074/jbc.M601976200
PMid:16928687
Schmitz M, Niehoff A, Miosge N, Smyth N, et al. (2008). Transgenic mice expressing D469Delta mutated cartilage oligomeric matrix protein (COMP) show growth plate abnormalities and sternal malformations. Matrix Biol. 27: 67-85.
doi:10.1016/j.matbio.2007.08.001
PMid:17889519
Tufan AC, Satiroglu-Tufan NL, Jackson GC, Semerci CN, et al. (2007). Serum or plasma cartilage oligomeric matrix protein concentration as a diagnostic marker in pseudoachondroplasia: differential diagnosis of a family. Eur. J. Hum. Genet. 15: 1023-1028.
doi:10.1038/sj.ejhg.5201882
PMid:17579668
Unger S and Hecht JT (2001). Pseudoachondroplasia and multiple epiphyseal dysplasia: new etiologic developments. Am. J. Med. Genet. 106: 244-250.
doi:10.1002/ajmg.10234
PMid:11891674
Vranka J, Mokashi A, Keene DR, Tufa S, et al. (2001). Selective intracellular retention of extracellular matrix proteins and chaperones associated with pseudoachondroplasia. Matrix Biol. 20: 439-450.
doi:10.1016/S0945-053X(01)00148-2
Zankl A, Jackson GC, Crettol LM, Taylor J, et al. (2007). Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia. Eur. J. Hum. Genet. 15: 150-154.
doi:10.1038/sj.ejhg.5201744
PMid:17133256 PMCid:2670452