DiCesare P, Hauser N, Lehman D, Pasumarti S, Paulsson M. 1994. Cartilage oligomeric matrix protein (COMP) is an abundant component of tendon. FEBS Lett 354:237– 240. Dixon J, Dixon MJ. 2004. Genetic background has a major effect on the penetrance and severity of craniofacial defects in mice heterozygous for the gene encoding the nucleolar protein Treacle. Dev Dyn 229:907–914. Duke J, Montufar-Solis D, Underwood S, Lalani Z, Hecht JT. 2003. Apoptosis staining in cultured pseudoachondroplasia chondrocytes. Apoptosis 8:191–197. Ekeowa UI, Freeke J, Miranda E, Gooptu B, Bush MF, Perez J, Teckman J, Robinson CV, Lomas DA. 2010. Deﬁning the mechanism of polymerization in the ser- pinopathies. Proc Natl Acad Sci USA 107:17146–17151. Forlino A, Piazza R, Tiveron C, Della Torre S, Tatangelo L, Bonafe L, Gualeni B, Romano A, Pecora F, Superti-Furga A, Cetta G, Rossi A. 2005. A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype. Hum Mol Genet 14:859–871. Fresquet M, Jowitt TA, Ylostalo J, Coffey P, Meadows RS, Ala-Kokko L, Thornton DJ, Briggs MD. 2007. Structural and functional characterization of recombinant matrilin-3 A-domain and implications for human genetic bone diseases. J Biol Chem 282:34634–34643. Gagarina V, Carlberg AL, Pereira-Mouries L, Hall DJ. 2008. Cartilage oligomeric matrix protein protects cells against death by elevating members of the IAP family of survival proteins. J Biol Chem 283:648–659. Halasz K, Kassner A, Morgelin M, Heinegard D. 2007. COMP acts as a catalyst in collagen ﬁbrillogenesis. J Biol Chem 282:31166–31173. Han J, Jogie-Brahim S, Harada A, Oh Y. 2011. Insulin-like growth factor-binding protein-3 suppresses tumor growth via activation of caspase-dependent apoptosis and cross-talk with NF-kappaB signaling. Cancer Lett 307:200–210. Hashimoto Y, Tomiyama T, Yamano Y, 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. Hecht JT, Deere M, Putnam E, Cole W, Vertel B, Chen H, Lawler J. 1998. Charac- terization of cartilage oligomeric matrix protein (COMP) in human normal and pseudoachondroplasia musculoskeletal tissues. Matrix Biol 17:269–278. Hecht JT, Hayes E, Haynes R, Cole WG. 2005. COMP mutations, chondrocyte function and cartilage matrix. Matrix Biol 23:525–533. Hecht JT, Hayes E, Snuggs M, Decker G, Montufar-Solis D, Doege K, Mwalle F, Poole R, Stevens J, Duke PJ. 2001. Calreticulin, PDI, Grp94 and BiP chaperone proteins are associated with retained COMP in pseudoachondroplasia chondrocytes. Matrix Biol 20:251–262. Hecht JT, Makitie O, Hayes E, Haynes R, Susic M, Montufar-Solis D, Duke PJ, Cole WG. 2004. Chondrocyte cell death and intracellular distribution of COMP and type IX collagen in the pseudoachondroplasia growth plate. J Orthop Res 22:759– 767. Hecht JT, Nelson LD, Crowder E, Wang Y, Elder FF, Harrison WR, Francomano CA, Prange CK, Lennon GG, Deere M, Lawler J. 1995. Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia. Nat Genet 10:325–329. Holden P, Meadows RS, Chapman KL, Grant ME, Kadler KE, Briggs MD. 2001. Cartilage oligomeric matrix protein interacts with type IX collagen, and disruptions to these interactions identify a pathogenetic mechanism in a bone dysplasia family. J Biol Chem 276:6046–6055. Hsu HH, Hoffmann S, Di Marco GS, Endlich N, Peter-Katalinic J, Weide T, Pavenstadt H. 2011. Downregulation of the antioxidant protein peroxiredoxin 2 contributes to angiotensin II-mediated podocyte apoptosis. Kidney Int 80:959–969. Ikegawa S, Ohashi H, Nishimura G, Kim KC, Sannohe A, Kimizuka M, Fukushima Y, Nagai T, Nakamura Y. 1998. Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dys- plasia. Hum Genet 103:633–638. Irizarry RA, Hobbs B, Collin F, Beazer-Barclay YD, Antonellis KJ, Scherf U, Speed TP. 2003. Exploration, normalization, and summaries of high density oligonucleotide array probe level data. Biostatistics 4:249–264. Jurkunas UV, Rawe I, Bitar MS, Zhu C, Harris DL, Colby K, Joyce NC. 2008. Decreased expression of peroxiredoxins in Fuchs’ endothelial dystrophy. Invest Ophthalmol Vis Sci 49:2956–2963. Kennedy J, Jackson G, Ramsden S, Taylor J, Newman W, Wright MJ, Donnai D, Elles R, Briggs MD. 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. Kennedy J, Jackson GC, Barker FS, Nundlall S, Bella J, Wright MJ, Mortier GR, Neas K, Thompson E, Elles R, Briggs MD. 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. 230 HUMAN MUTATION, Vol. 33, No. 1, 218–231, 2012 Lee KW, Ma L, Yan X, Liu B, Zhang XK, Cohen P. 2005. Rapid apoptosis induction by IGFBP-3 involves an insulin-like growth factor-independent nucleomitochondrial translocation of RXRalpha/Nur77. J Biol Chem 280:16942–16948. Leighton MP, Nundlall S, Starborg T, Meadows RS, Suleman F, Knowles L, Wagener R, Thornton DJ, Kadler KE, Boot-Handford RP, Briggs MD. 2007. Decreased chondrocyte proliferation and dysregulated apoptosis in the cartilage growth plate are key features of a murine model of epiphyseal dysplasia caused by a matn3 mutation. Hum Mol Genet 16:1728–1741. Li C, Chen L, Iwata T, Kitagawa M, Fu XY, Deng CX. 1999. A Lys644Glu substitution in ﬁbroblast growth factor receptor 3 (FGFR3) causes dwarﬁsm in mice by activation of STATs and ink4 cell cycle inhibitors. Hum Mol Genet 8:35–44. Mann HH, Ozbek S, Engel J, Paulsson M, Wagener R. 2004. Interactions between the cartilage oligomeric matrix protein and matrilins. Implications for matrix assembly and the pathogenesis of chondrodysplasias. J Biol Chem 279:25294– 25298. Maroteaux P, Lamy M. 1959. [Pseudo-achondroplastic forms of spondylo-epiphyseal dysplasias.]. Presse Med 67:383–386. Maroteaux P, Stanescu R, Stanescu V, Fontaine G. 1980. The mild form of pseudoachon- droplasia. Identity of the morphological and biochemical alterations of growth cartilage with those of typical pseudoachondroplasia. Eur J Pediatr 133:227– 231. Morrison EH, Ferguson MW, Bayliss MT, Archer CW. 1996. The development of articular cartilage: I. The spatial and temporal patterns of collagen types. J Anat 189(Pt 1):9–22. Muragaki Y, Mariman EC, van Beersum SE, Perala M, van Mourik JB, Warman ML, Olsen BR, Hamel BC. 1996. A mutation in the gene encoding the alpha 2 chain of the ﬁbril- associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2). Nat Genet 12:103–105. Nadeau JH. 2001. Modiﬁer genes in mice and humans. Nat Rev Genet 2:165–174. Nundlall S, Rajpar MH, Bell PA, Clowes C, Zeeff LA, Gardner B, Thornton DJ, Boot- Handford RP, Briggs MD. 2010. An unfolded protein response is the initial cellular response to the expression of mutant matrilin-3 in a mouse model of multiple epiphyseal dysplasia. Cell Stress Chaperones 15:835–849. Oldberg A, Antonsson P, Lindblom K, Heinegard D. 1992. COMP (cartilage oligomeric matrix protein) is structurally related to the thrombospondins. J Biol Chem 267:22346–22350. Paassilta P, Lohiniva J, Annunen S, Bonaventure J, Le Merrer M, Pai L, Ala-Kokko L. 1999. COL9A3: a third locus for multiple epiphyseal dysplasia. Am J Hum Genet 64:1036–1044. Pirog-Garcia KA, Meadows RS, Knowles L, Heinegard D, Thornton DJ, Kadler KE, Boot-Handford RP, Briggs MD. 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. Posey KL, Veerisetty AC, Liu P, Wang HR, Poindexter BJ, Bick R, Alcorn JL, Hecht JT. 2009. An inducible cartilage oligomeric matrix protein mouse model recapitulates human pseudoachondroplasia phenotype. Am J Pathol 175:1555–1563. Posey KL, Yang Y, Veerisetty AC, Sharan SK, Hecht JT. 2008. Model systems for studying skeletal dysplasias caused by TSP-5/COMP mutations. Cell Mol Life Sci 65:687– 699. Rajpar MH, McDermott B, Kung L, Eardley R, Knowles L, Heeran M, Thornton DJ, Wilson R, Bateman JF, Poulsom R, Arvan P, Kadler KE, Briggs MD, Boot-Handford RP. 2009. Targeted induction of endoplasmic reticulum stress induces cartilage pathology. PLoS Genet 5:e1000691. Rimoin DL, Rasmussen IM, Briggs MD, Roughley PJ, Gruber HE, Warman ML, Olsen BR, Hsia YE, Yuen J, Reinker K, Garber AP, Grover J, Lachman RS, Cohn DH. 1994. A large family with features of pseudoachondroplasia and multiple epiphy- seal dysplasia: exclusion of seven candidate gene loci that encode proteins of the cartilage extracellular matrix. Hum Genet 93:236–242. Rock MJ, Holden P, Horton WA, Cohn DH. 2010. Cartilage oligomeric matrix protein promotes cell attachment via two independent mechanisms involving CD47 and alphaVbeta3 integrin. Mol Cell Biochem 338:215–224. Rosenberg K, Olsson H, Morgelin M, Heinegard D. 1998. Cartilage oligomeric matrix protein shows high afﬁnity zinc-dependent interaction with triple helical collagen. J Biol Chem 273:20397–20403. Sanchez-Font MF, Sebastia J, Sanfeliu C, Cristofol R, Marfany G, Gonzalez-Duarte R. 2003. Peroxiredoxin 2 (PRDX2), an antioxidant enzyme, is under-expressed in Down syndrome fetal brains. Cell Mol Life Sci 60:1513–1523. Schmitz M, Niehoff A, Miosge N, Smyth N, Paulsson M, Zaucke F. 2008. Transgenic mice expressing D469Delta mutated cartilage oligomeric matrix protein (COMP) show growth plate abnormalities and sternal malformations. Matrix Biol 27:67– 85. Song HR, Lee KS, Li QW, Koo SK, Jung SC. 2003. Identiﬁcation of cartilage oligomeric matrix protein (COMP) gene mutations in patients with pseudoachondroplasia and multiple epiphyseal dysplasia. J Hum Genet 48:222–225.