Gene Symbol: Col2a1
Description: collagen, type II, alpha 1
Alias: Col2, Col2a, Col2a-1, Del1, Dmm, Lpk, M100413, Rgsc413, Rgsc856, collagen alpha-1(II) chain, alpha-1 type II collagen, chondrocalcin, procollagen, type II, alpha 1
Species: mouse
Products:     Col2a1

Top Publications

  1. Geng Y, Dong Y, Yu M, Zhang L, Yan X, Sun J, et al. Follistatin-like 1 (Fstl1) is a bone morphogenetic protein (BMP) 4 signaling antagonist in controlling mouse lung development. Proc Natl Acad Sci U S A. 2011;108:7058-63 pubmed publisher
    ..Therefore, we provide in vivo and in vitro evidence to demonstrate that Fstl1 modulates lung development and alveolar maturation, in part, through BMP4 signaling...
  2. Zelzer E, McLean W, Ng Y, Fukai N, Reginato A, Lovejoy S, et al. Skeletal defects in VEGF(120/120) mice reveal multiple roles for VEGF in skeletogenesis. Development. 2002;129:1893-904 pubmed
    ..We also describe new in vivo evidence for a possible role of VEGF in chondrocyte maturation, and document that VEGF has a direct role in regulating osteoblastic activity based on in vivo evidence and organ culture experiments. ..
  3. Hiraoka S, Furuichi T, Nishimura G, Shibata S, Yanagishita M, Rimoin D, et al. Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human. Nat Med. 2007;13:1363-7 pubmed
    ..Our findings highlight the crucial role of NSTs in proteoglycan function and cartilage metabolism, thus revealing a new paradigm for skeletal disease and glycobiology. ..
  4. Baur S, Mai J, Dymecki S. Combinatorial signaling through BMP receptor IB and GDF5: shaping of the distal mouse limb and the genetics of distal limb diversity. Development. 2000;127:605-19 pubmed
  5. Gustafsson E, Aszodi A, Ortega N, Hunziker E, Denker H, Werb Z, et al. Role of collagen type II and perlecan in skeletal development. Ann N Y Acad Sci. 2003;995:140-50 pubmed
    ..Likewise, intercrossing of perlecan mutants onto an MMP-9-null background could not rescue the ultrastructural abnormalities of the perlecan-deficient cartilage. ..
  6. Yang Y, Topol L, Lee H, Wu J. Wnt5a and Wnt5b exhibit distinct activities in coordinating chondrocyte proliferation and differentiation. Development. 2003;130:1003-15 pubmed
    ..and differentiation by differentially regulating cyclin D1 and p130 expression, as well as chondrocyte-specific Col2a1 expression...
  7. Maes C, Carmeliet P, Moermans K, Stockmans I, Smets N, Collen D, et al. Impaired angiogenesis and endochondral bone formation in mice lacking the vascular endothelial growth factor isoforms VEGF164 and VEGF188. Mech Dev. 2002;111:61-73 pubmed
  8. Hattori T, Müller C, Gebhard S, Bauer E, Pausch F, Schlund B, et al. SOX9 is a major negative regulator of cartilage vascularization, bone marrow formation and endochondral ossification. Development. 2010;137:901-11 pubmed publisher
    ..These findings imply that downregulation of Sox9 in the hypertrophic zone of the normal growth plate is essential for allowing vascular invasion, bone marrow formation and endochondral ossification. ..
  9. Smith N, Dong Y, Lian J, Pratap J, Kingsley P, Van Wijnen A, et al. Overlapping expression of Runx1(Cbfa2) and Runx2(Cbfa1) transcription factors supports cooperative induction of skeletal development. J Cell Physiol. 2005;203:133-43 pubmed

More Information


  1. Zhang R, Murakami S, Coustry F, Wang Y, de Crombrugghe B. Constitutive activation of MKK6 in chondrocytes of transgenic mice inhibits proliferation and delays endochondral bone formation. Proc Natl Acad Sci U S A. 2006;103:365-70 pubmed
    ..Therefore, our study provides in vivo evidence for the role of p38 in endochondral ossification and suggests that Sox9 is a likely downstream target of the p38 MAPK pathway. ..
  2. Hill T, Später D, Taketo M, Birchmeier W, Hartmann C. Canonical Wnt/beta-catenin signaling prevents osteoblasts from differentiating into chondrocytes. Dev Cell. 2005;8:727-38 pubmed
    ..Thus, canonical Wnt/beta-catenin signaling is essential for skeletal lineage differentiation, preventing transdifferentiation of osteoblastic cells into chondrocytes. ..
  3. Esapa C, Hough T, Testori S, Head R, Crane E, Chan C, et al. A mouse model for spondyloepiphyseal dysplasia congenita with secondary osteoarthritis due to a Col2a1 mutation. J Bone Miner Res. 2012;27:413-28 pubmed publisher
    ..Lpk was mapped to chromosome 15 and mutational analysis of likely candidates from the interval revealed a Col2a1 missense Ser1386Pro mutation...
  4. Ovchinnikov D, Deng J, Ogunrinu G, Behringer R. Col2a1-directed expression of Cre recombinase in differentiating chondrocytes in transgenic mice. Genesis. 2000;26:145-6 pubmed
  5. Amarilio R, Viukov S, Sharir A, Eshkar Oren I, Johnson R, Zelzer E. HIF1alpha regulation of Sox9 is necessary to maintain differentiation of hypoxic prechondrogenic cells during early skeletogenesis. Development. 2007;134:3917-28 pubmed
    ..This work establishes for the first time HIF1alpha as a key component in the genetic program that regulates chondrogenesis by regulating Sox9 expression in hypoxic prechondrogenic cells. ..
  6. Seegmiller R, Bomsta B, Bridgewater L, Niederhauser C, Montano C, Sudweeks S, et al. The heterozygous disproportionate micromelia (dmm) mouse: morphological changes in fetal cartilage precede postnatal dwarfism and compared with lethal homozygotes can explain the mild phenotype. J Histochem Cytochem. 2008;56:1003-11 pubmed publisher
    The disproportionate micromelia (Dmm) mouse has a mutation in the C-propeptide coding region of the Col2a1 gene that causes lethal dwarfism when homozygous (Dmm/Dmm) but causes only mild dwarfism observable approximately 1-week postpartum ..
  7. Fernandes R, Seegmiller R, Nelson W, Eyre D. Protein consequences of the Col2a1 C-propeptide mutation in the chondrodysplastic Dmm mouse. Matrix Biol. 2003;22:449-53 pubmed
    The Disproportionate micromelia (Dmm) mouse has a three nucleotide deletion in Col2a1 in the region encoding the C-propeptide which results in the substitution of one amino acid, Asn, for two amino acids, Lys-Thr...
  8. Mori Akiyama Y, Akiyama H, Rowitch D, de Crombrugghe B. Sox9 is required for determination of the chondrogenic cell lineage in the cranial neural crest. Proc Natl Acad Sci U S A. 2003;100:9360-5 pubmed
    ..We hypothesize that these cells change their cell fate and acquire the ability to differentiate into osteoblasts. We conclude that Sox9 is required for the determination of the chondrogenic lineage in CNC cells. ..
  9. Settle S, Rountree R, Sinha A, Thacker A, Higgins K, Kingsley D. Multiple joint and skeletal patterning defects caused by single and double mutations in the mouse Gdf6 and Gdf5 genes. Dev Biol. 2003;254:116-30 pubmed
  10. Cobb J, Dierich A, Huss Garcia Y, Duboule D. A mouse model for human short-stature syndromes identifies Shox2 as an upstream regulator of Runx2 during long-bone development. Proc Natl Acad Sci U S A. 2006;103:4511-5 pubmed
    ..Furthermore, using this mouse model, we establish the cellular etiology of these defects and show that Shox2 acts upstream the Runx2 gene, a key regulator of chondrogenesis. ..
  11. Storm E, Kingsley D. GDF5 coordinates bone and joint formation during digit development. Dev Biol. 1999;209:11-27 pubmed
    ..Thus, GDF5 function in the digits demonstrates a link between cartilage development and joint development and is an important determinant of the pattern of bones and articulations in the digits. ..
  12. Tavella S, Biticchi R, Schito A, Minina E, Di Martino D, Pagano A, et al. Targeted expression of SHH affects chondrocyte differentiation, growth plate organization, and Sox9 expression. J Bone Miner Res. 2004;19:1678-88 pubmed
    ..Transgenic mice show that continuous expression of SHH in chondrocytes interferes with cell differentiation and growth plate organization and induces high levels and diffuse expression of Sox9 in cartilaginous bones. ..
  13. Grashoff C, Aszodi A, Sakai T, Hunziker E, Fassler R. Integrin-linked kinase regulates chondrocyte shape and proliferation. EMBO Rep. 2003;4:432-8 pubmed
    ..These findings suggest that Ilk regulates actin reorganization in chondrocytes and modulates chondrocyte growth independently of phosphorylation of Pkb/Akt and GSK3-beta. ..
  14. Guo X, Day T, Jiang X, Garrett Beal L, Topol L, Yang Y. Wnt/beta-catenin signaling is sufficient and necessary for synovial joint formation. Genes Dev. 2004;18:2404-17 pubmed
    ..Wnt4, Wnt14, and Wnt16 may play redundant roles in synovial joint induction by signaling through the beta-catenin-mediated canonical Wnt pathway. ..
  15. Leung A, Wong S, Chan D, Tam P, Cheah K. Loss of procollagen IIA from the anterior mesendoderm disrupts the development of mouse embryonic forebrain. Dev Dyn. 2010;239:2319-29 pubmed publisher
    ..IIA), an isoform of the cartilage extracellular matrix protein encoded by an alternatively spliced transcript of Col2a1, is expressed in the prechordal plate and the anterior definitive endoderm...
  16. Smits P, Li P, Mandel J, Zhang Z, Deng J, Behringer R, et al. The transcription factors L-Sox5 and Sox6 are essential for cartilage formation. Dev Cell. 2001;1:277-90 pubmed
    ..L-Sox5 and Sox6 are thus redundant, potent enhancers of chondroblast functions, thereby essential for endochondral skeleton formation. ..
  17. Wang Y, Xiao R, Yang F, Karim B, Iacovelli A, Cai J, et al. Abnormalities in cartilage and bone development in the Apert syndrome FGFR2(+/S252W) mouse. Development. 2005;132:3537-48 pubmed
    ..Our results suggest that altered cartilage and bone development play a significant role in the pathogenesis of the Apert syndrome phenotype...
  18. Ikegami D, Akiyama H, Suzuki A, Nakamura T, Nakano T, Yoshikawa H, et al. Sox9 sustains chondrocyte survival and hypertrophy in part through Pik3ca-Akt pathways. Development. 2011;138:1507-19 pubmed publisher
    ..Sox9 inactivation in round chondrocytes resulted in a loss of Col2a1 expression and in apoptosis...
  19. Yu L, Liu H, Yan M, Yang J, Long F, Muneoka K, et al. Shox2 is required for chondrocyte proliferation and maturation in proximal limb skeleton. Dev Biol. 2007;306:549-59 pubmed
    ..Our results establish a key role for Shox2 in regulating the growth of stylopod by controlling chondrocyte maturation via Runx2 and Runx3. ..
  20. Kobayashi T, Chung U, Schipani E, Starbuck M, Karsenty G, Katagiri T, et al. PTHrP and Indian hedgehog control differentiation of growth plate chondrocytes at multiple steps. Development. 2002;129:2977-86 pubmed
    ..Thus, chondrocyte differentiation is controlled at multiple steps by PTHrP and Ihh through the mutual regulation of their activities. ..
  21. Sala F, del Moral P, Tiozzo C, Alam D, Warburton D, Grikscheit T, et al. FGF10 controls the patterning of the tracheal cartilage rings via Shh. Development. 2011;138:273-82 pubmed publisher
    ..We propose that disturbed balances of Fgf10 and Shh may explain a subset of human tracheomalacia without tracheo-esophageal fistula or tracheal atresia...
  22. Tsumaki N, Nakase T, Miyaji T, Kakiuchi M, Kimura T, Ochi T, et al. Bone morphogenetic protein signals are required for cartilage formation and differently regulate joint development during skeletogenesis. J Bone Miner Res. 2002;17:898-906 pubmed
    ..These conclusions may account for the reason why multiple BMPs are coexpressed in cartilage. ..
  23. Hung I, Yu K, Lavine K, Ornitz D. FGF9 regulates early hypertrophic chondrocyte differentiation and skeletal vascularization in the developing stylopod. Dev Biol. 2007;307:300-13 pubmed
    ..In developing stylopod elements, FGF9 promotes chondrocyte hypertrophy at early stages and regulates vascularization of the growth plate and osteogenesis at later stages of skeletal development. ..
  24. Garofalo S, Kliger Spatz M, Cooke J, Wolstin O, Lunstrum G, Moshkovitz S, et al. Skeletal dysplasia and defective chondrocyte differentiation by targeted overexpression of fibroblast growth factor 9 in transgenic mice. J Bone Miner Res. 1999;14:1909-15 pubmed
  25. Liu C, Aschbacher Smith L, Barthelery N, Dyment N, Butler D, Wylie C. Spatial and temporal expression of molecular markers and cell signals during normal development of the mouse patellar tendon. Tissue Eng Part A. 2012;18:598-608 pubmed publisher
    ..These data will allow both the functional analysis of specific signaling pathways in tenocyte development and their application to tissue-engineering studies in vitro. ..
  26. Lincoln J, Alfieri C, Yutzey K. Development of heart valve leaflets and supporting apparatus in chicken and mouse embryos. Dev Dyn. 2004;230:239-50 pubmed
    ..Together, these studies provide novel insights into the origins and cell lineage diversity of mature valve structures in the developing vertebrate heart. ..
  27. Arnold M, Kim Y, Czubryt M, Phan D, McAnally J, Qi X, et al. MEF2C transcription factor controls chondrocyte hypertrophy and bone development. Dev Cell. 2007;12:377-89 pubmed
    ..These findings reveal unexpected commonalities in the mechanisms governing muscle, cardiovascular, and bone development with respect to their regulation by MEF2 and class II HDACs. ..
  28. Guo X, Mak K, Taketo M, Yang Y. The Wnt/beta-catenin pathway interacts differentially with PTHrP signaling to control chondrocyte hypertrophy and final maturation. PLoS ONE. 2009;4:e6067 pubmed publisher
    ..Furthermore, Wnt/beta-catenin signaling also controls final maturation of hypertrophic chondrocytes, but such regulation is PTHrP signaling-independent. ..
  29. Maes C, Stockmans I, Moermans K, Van Looveren R, Smets N, Carmeliet P, et al. Soluble VEGF isoforms are essential for establishing epiphyseal vascularization and regulating chondrocyte development and survival. J Clin Invest. 2004;113:188-99 pubmed
    ..These findings indicate that the insoluble VEGF(188) isoform is insufficient for establishing epiphyseal vascularization and regulating cartilage development during endochondral bone formation...
  30. Donahue L, Chang B, Mohan S, Miyakoshi N, Wergedal J, Baylink D, et al. A missense mutation in the mouse Col2a1 gene causes spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisis. J Bone Miner Res. 2003;18:1612-21 pubmed
    A missense mutation in the mouse Col2a1 gene has been discovered, resulting in a mouse phenotype with similarities to human spondyloepiphyseal dysplasia (SED) congenita...
  31. French M, Smith S, Akanbi K, Sanford T, Hecht J, Farach Carson M, et al. Expression of the heparan sulfate proteoglycan, perlecan, during mouse embryogenesis and perlecan chondrogenic activity in vitro. J Cell Biol. 1999;145:1103-15 pubmed
    ..Collectively, these studies demonstrate that Pln is not only a marker of chondrogenesis, but also strongly potentiates chondrogenic differentiation in vitro. ..
  32. Ivkovic S, Yoon B, Popoff S, Safadi F, Libuda D, Stephenson R, et al. Connective tissue growth factor coordinates chondrogenesis and angiogenesis during skeletal development. Development. 2003;130:2779-91 pubmed
    ..These results demonstrate that CTGF is important for cell proliferation and matrix remodeling during chondrogenesis, and is a key regulator coupling extracellular matrix remodeling to angiogenesis at the growth plate. ..
  33. Vega R, Matsuda K, Oh J, Barbosa A, Yang X, Meadows E, et al. Histone deacetylase 4 controls chondrocyte hypertrophy during skeletogenesis. Cell. 2004;119:555-66 pubmed
    ..These results establish HDAC4 as a central regulator of chondrocyte hypertrophy and skeletogenesis and suggest general roles for class II HDACs in the control of cellular hypertrophy. ..
  34. Wuelling M, Kaiser F, Buelens L, Braunholz D, Shivdasani R, Depping R, et al. Trps1, a regulator of chondrocyte proliferation and differentiation, interacts with the activator form of Gli3. Dev Biol. 2009;328:40-53 pubmed publisher
    ..The differentiation of columnar and hypertrophic chondrocytes is supported by Trps1 independent of Gli3. Trps1 seems thus to organize chondrocyte differentiation interacting with different subsets of co-factors in distinct cell types. ..
  35. Rokutanda S, Fujita T, Kanatani N, Yoshida C, Komori H, Liu W, et al. Akt regulates skeletal development through GSK3, mTOR, and FoxOs. Dev Biol. 2009;328:78-93 pubmed publisher
  36. Farooq S, Ashour H. Type II collagen induces peripheral tolerance in BALB/c mice via the generation of CD8+ T regulatory cells. PLoS ONE. 2012;7:e48635 pubmed publisher
    ..This could have therapeutic implications in Rheumatoid arthritis, aging, osteoarthritis, and other diseases in which CII is involved. ..
  37. Boulet A, Capecchi M. Multiple roles of Hoxa11 and Hoxd11 in the formation of the mammalian forelimb zeugopod. Development. 2004;131:299-309 pubmed
    ..As a consequence, growth and maturation of these bones is highly disorganized, resulting in the creation of amorphous bony elements, rather than a normal radius and ulna. ..
  38. Robledo R, Rajan L, Li X, Lufkin T. The Dlx5 and Dlx6 homeobox genes are essential for craniofacial, axial, and appendicular skeletal development. Genes Dev. 2002;16:1089-101 pubmed
    ..Furthermore, spatiotemporal-specific transgenic overexpression of Dlx5, in the apical ectodermal ridge of Dlx5/6 null mice can fully rescue Dlx/Dll function in limb outgrowth. ..
  39. Meech R, Edelman D, Jones F, Makarenkova H. The homeobox transcription factor Barx2 regulates chondrogenesis during limb development. Development. 2005;132:2135-46 pubmed
    ..several genes encoding cell-adhesion molecules and extracellular matrix proteins, including NCAM and collagen II (Col2a1) in the limb bud...
  40. Wang W, Lian N, Li L, Moss H, Wang W, Perrien D, et al. Atf4 regulates chondrocyte proliferation and differentiation during endochondral ossification by activating Ihh transcription. Development. 2009;136:4143-53 pubmed publisher
    ..Ihh) is markedly decreased, whereas the expression of other chondrocyte marker genes, such as type II collagen (Col2a1), PTH/PTHrP receptor (Pth1r) and type X collagen (Col10a1), is normal...
  41. Colnot C, de la Fuente L, Huang S, Hu D, Lu C, St Jacques B, et al. Indian hedgehog synchronizes skeletal angiogenesis and perichondrial maturation with cartilage development. Development. 2005;132:1057-67 pubmed
  42. Furuichi T, Masuya H, Murakami T, Nishida K, Nishimura G, Suzuki T, et al. ENU-induced missense mutation in the C-propeptide coding region of Col2a1 creates a mouse model of platyspondylic lethal skeletal dysplasia, Torrance type. Mamm Genome. 2011;22:318-28 pubmed publisher
    The COL2A1 gene encodes the ?1(II) chain of the homotrimeric type II collagen, the most abundant protein in cartilage...
  43. Vickerman L, Neufeld S, Cobb J. Shox2 function couples neural, muscular and skeletal development in the proximal forelimb. Dev Biol. 2011;350:323-36 pubmed publisher
    ..These data demonstrate that Shox2 is required for normal skeletal, neural and muscular development in the forelimb at a similar early developmental stage in each tissue. ..
  44. Barbieri O, Astigiano S, Morini M, Tavella S, Schito A, Corsi A, et al. Depletion of cartilage collagen fibrils in mice carrying a dominant negative Col2a1 transgene affects chondrocyte differentiation. Am J Physiol Cell Physiol. 2003;285:C1504-12 pubmed
    We have generated transgenic mice harboring the deletion of exon 48 in the mouse alpha1(II) procollagen gene (Col2a1). This was the first dominant negative mutation identified in the human alpha1(II) procollagen gene (COL2A1)...
  45. Inada M, Yasui T, Nomura S, Miyake S, Deguchi K, Himeno M, et al. Maturational disturbance of chondrocytes in Cbfa1-deficient mice. Dev Dyn. 1999;214:279-90 pubmed
    ..These findings demonstrate that Cbfa1 is an important factor for chondrocyte differentiation. ..
  46. St Jacques B, Hammerschmidt M, McMahon A. Indian hedgehog signaling regulates proliferation and differentiation of chondrocytes and is essential for bone formation. Genes Dev. 1999;13:2072-86 pubmed
    ..Together, the results suggest a model in which Ihh coordinates diverse aspects of skeletal morphogenesis through PTHrP-dependent and independent processes. ..
  47. Takeda S, Bonnamy J, Owen M, Ducy P, Karsenty G. Continuous expression of Cbfa1 in nonhypertrophic chondrocytes uncovers its ability to induce hypertrophic chondrocyte differentiation and partially rescues Cbfa1-deficient mice. Genes Dev. 2001;15:467-81 pubmed
    ..These results identify Cbfa1 as a hypertrophic chondrocyte differentiation factor and provide a genetic argument for a common regulation of osteoblast and chondrocyte differentiation mediated by Cbfa1. ..
  48. Arora R, Metzger R, Papaioannou V. Multiple roles and interactions of Tbx4 and Tbx5 in development of the respiratory system. PLoS Genet. 2012;8:e1002866 pubmed publisher
    ..Finally, we show that Tbx4 and Tbx5 interact with Fgf10 during the process of lung growth and branching but not during tracheal/bronchial cartilage development. ..
  49. Schipani E, Ryan H, Didrickson S, Kobayashi T, Knight M, Johnson R. Hypoxia in cartilage: HIF-1alpha is essential for chondrocyte growth arrest and survival. Genes Dev. 2001;15:2865-76 pubmed
  50. Saito A, Hino S, Murakami T, Kanemoto S, Kondo S, Saitoh M, et al. Regulation of endoplasmic reticulum stress response by a BBF2H7-mediated Sec23a pathway is essential for chondrogenesis. Nat Cell Biol. 2009;11:1197-204 pubmed publisher
    ..Interestingly, proliferating chondrocytes showed abnormally expanded ER, containing aggregated type II collagen (Col2) and cartilage oligomeric matrix protein (COMP)...
  51. Joeng K, Long F. The Gli2 transcriptional activator is a crucial effector for Ihh signaling in osteoblast development and cartilage vascularization. Development. 2009;136:4177-85 pubmed publisher
    ..These results therefore provide direct genetic evidence that Gli2 and Gli3 collectively mediate all major aspects of Ihh function during endochondral skeletal development. ..
  52. Nishioka K, Itoh S, Suemoto H, Kanno S, Gai Z, Kawakatsu M, et al. Trps1 deficiency enlarges the proliferative zone of growth plate cartilage by upregulation of Pthrp. Bone. 2008;43:64-71 pubmed publisher
    ..Taken together, these data provide the first genetic evidence that lack of Trps1 leads to overexpression of PTHrP, and that Trps1 is required to maintain the normal organization of chondrocytes in the growth plate. ..
  53. Bi W, Huang W, Whitworth D, Deng J, Zhang Z, Behringer R, et al. Haploinsufficiency of Sox9 results in defective cartilage primordia and premature skeletal mineralization. Proc Natl Acad Sci U S A. 2001;98:6698-703 pubmed
    ..In addition, the overall levels of Col2a1 RNA at E10.5 and E12.5 were lower than in wild-type embryos...
  54. Stricker S, Fundele R, Vortkamp A, Mundlos S. Role of Runx genes in chondrocyte differentiation. Dev Biol. 2002;245:95-108 pubmed
  55. Yoshida C, Furuichi T, Fujita T, Fukuyama R, Kanatani N, Kobayashi S, et al. Core-binding factor beta interacts with Runx2 and is required for skeletal development. Nat Genet. 2002;32:633-8 pubmed
    ..These findings indicate that Cbfbeta is required for the function of Runx2 in skeletal development. ..
  56. Compagni A, Logan M, Klein R, Adams R. Control of skeletal patterning by ephrinB1-EphB interactions. Dev Cell. 2003;5:217-30 pubmed
    ..Our findings suggest that differential cell adhesion and sorting might be relevant for an unusual class of X-linked human genetic disorders, in which heterozygous females show more severe phenotypes than hemizygous males. ..
  57. Yoon B, Ovchinnikov D, Yoshii I, Mishina Y, Behringer R, Lyons K. Bmpr1a and Bmpr1b have overlapping functions and are essential for chondrogenesis in vivo. Proc Natl Acad Sci U S A. 2005;102:5062-7 pubmed
    ..In summary, our study demonstrates that BMPR1A and BMPR1B are functionally redundant during early chondrogenesis and that BMP signaling is required for chondrocyte proliferation, survival, and differentiation in vivo. ..
  58. Park J, Zhang J, Moro A, Kushida M, Wegner M, Kim P. Regulation of Sox9 by Sonic Hedgehog (Shh) is essential for patterning and formation of tracheal cartilage. Dev Dyn. 2010;239:514-26 pubmed publisher
    ..These results indicate that Shh signalling is a critical determinant in tracheal cartilage development. ..
  59. Kim I, Otto F, Zabel B, Mundlos S. Regulation of chondrocyte differentiation by Cbfa1. Mech Dev. 1999;80:159-70 pubmed
    ..Our studies identify Cbfa1 as a major positive regulator of chondrocyte differentiation. ..
  60. Mak K, Kronenberg H, Chuang P, Mackem S, Yang Y. Indian hedgehog signals independently of PTHrP to promote chondrocyte hypertrophy. Development. 2008;135:1947-56 pubmed publisher
    ..In addition, we found that bone morphogenetic protein (Bmp) and Wnt/beta-catenin signaling in the cartilage may both mediate the effect of upregulated Ihh signaling in promoting chondrocyte hypertrophy. ..
  61. Lu J, Lian G, Lenkinski R, De Grand A, Vaid R, Bryce T, et al. Filamin B mutations cause chondrocyte defects in skeletal development. Hum Mol Genet. 2007;16:1661-75 pubmed
    ..These data suggest that disruption of the ECM-beta1-integrin-Flnb pathway contributes to defects in vertebral and distal limb development, similar to those seen in the human autosomal recessive SCT due to Flnb mutations. ..
  62. Plumb D, Dhir V, Mironov A, Ferrara L, Poulsom R, Kadler K, et al. Collagen XXVII is developmentally regulated and forms thin fibrillar structures distinct from those of classical vertebrate fibrillar collagens. J Biol Chem. 2007;282:12791-5 pubmed
    ..The transient nature of its expression and unusual fibrillar structure suggest that collagen XXVII plays a developmental role distinct from those of the classical fibrillar collagens. ..
  63. Baffi M, Slattery E, Sohn P, Moses H, Chytil A, Serra R. Conditional deletion of the TGF-beta type II receptor in Col2a expressing cells results in defects in the axial skeleton without alterations in chondrocyte differentiation or embryonic development of long bones. Dev Biol. 2004;276:124-42 pubmed
    ..we generated mice with a conditional deletion of the TGF-beta type II receptor gene (Tgfbr2) specifically in Col2a expressing cells using the Cre/lox recombinase system...
  64. Nakashima K, Zhou X, Kunkel G, Zhang Z, Deng J, Behringer R, et al. The novel zinc finger-containing transcription factor osterix is required for osteoblast differentiation and bone formation. Cell. 2002;108:17-29 pubmed
    ..Thus, Osx acts downstream of Runx2/Cbfa1. Because Osx null preosteoblasts express typical chondrocyte marker genes, we propose that Runx2/Cbfa1-expressing preosteoblasts are still bipotential cells. ..
  65. Tsumaki N, Tanaka K, Arikawa Hirasawa E, Nakase T, Kimura T, Thomas J, et al. Role of CDMP-1 in skeletal morphogenesis: promotion of mesenchymal cell recruitment and chondrocyte differentiation. J Cell Biol. 1999;144:161-73 pubmed
    ..These results indicate that CDMP-1 antagonizes the ventralization signals from the notochord. Our study suggests a molecular mechanism by which CDMP-1 regulates the formation, growth, and differentiation of the skeletal elements. ..
  66. Elluru R, Thompson F, Reece A. Fibroblast growth factor 18 gives growth and directional cues to airway cartilage. Laryngoscope. 2009;119:1153-65 pubmed publisher
    ..FGF18 provided both directional and proliferative cues to chondrocytes in the developing upper respiratory tract. FGF18 exerted this effect on developing chondrocytes by up-regulating Sox9 expression. Laryngoscope, 2009. ..
  67. Kolpakova Hart E, Jinnin M, Hou B, Fukai N, Olsen B. Kinesin-2 controls development and patterning of the vertebrate skeleton by Hedgehog- and Gli3-dependent mechanisms. Dev Biol. 2007;309:273-84 pubmed
    ..However, the motor appears to be required for the efficient cleavage of the full-length Gli3 transcription factor into a repressor form...
  68. Bandyopadhyay A, Tsuji K, Cox K, Harfe B, Rosen V, Tabin C. Genetic analysis of the roles of BMP2, BMP4, and BMP7 in limb patterning and skeletogenesis. PLoS Genet. 2006;2:e216 pubmed
    ..In contrast, we find that the loss of both BMP2 and BMP4 results in a severe impairment of osteogenesis. ..
  69. Sahlman J, Pitkänen M, Prockop D, Arita M, Li S, Helminen H, et al. A human COL2A1 gene with an Arg519Cys mutation causes osteochondrodysplasia in transgenic mice. Arthritis Rheum. 2004;50:3153-60 pubmed
    An arginine-to-cysteine substitution at position 519 of the COL2A1 gene causes early generalized osteoarthritis with mild chondrodysplasia in humans...
  70. Elluru R, Whitsett J. Potential role of Sox9 in patterning tracheal cartilage ring formation in an embryonic mouse model. Arch Otolaryngol Head Neck Surg. 2004;130:732-6 pubmed
    ..We have identified a gene (Sox9) with a known role in chondrocyte differentiation that is expressed in a highly specific temporal and spatial pattern in the developing upper respiratory tract. ..
  71. Arikawa Hirasawa E, Watanabe H, Takami H, Hassell J, Yamada Y. Perlecan is essential for cartilage and cephalic development. Nat Genet. 1999;23:354-8 pubmed
    ..Our findings suggest that these molecules affect similar signalling pathways. ..
  72. Tomita N, Hattori T, Itoh S, Aoyama E, Yao M, Yamashiro T, et al. Cartilage-specific over-expression of CCN family member 2/connective tissue growth factor (CCN2/CTGF) stimulates insulin-like growth factor expression and bone growth. PLoS ONE. 2013;8:e59226 pubmed publisher
    ..Transgenic mice were generated expressing a ccn2/lacZ fusion gene in cartilage under the control of the 6 kb-Col2a1-enhancer/promoter...
  73. Akiyama H, Lyons J, Mori Akiyama Y, Yang X, Zhang R, Zhang Z, et al. Interactions between Sox9 and beta-catenin control chondrocyte differentiation. Genes Dev. 2004;18:1072-87 pubmed
    ..Our results strongly suggest that chondrogenesis is controlled by interactions between Sox9 and the Wnt/beta-catenin signaling pathway. ..