type II collagen

Summary

Gene Symbol: type II collagen
Description: collagen type II alpha 1 chain
Alias: ANFH, AOM, COL11A3, SEDC, STL1, collagen alpha-1(II) chain, alpha-1 type II collagen, arthroophthalmopathy, progressive (Stickler syndrome), cartilage collagen, chondrocalcin, collagen II, alpha-1 polypeptide, collagen, type II, alpha 1
Species: human
Products:     type II collagen

Top Publications

  1. Terhal P, van Dommelen P, Le Merrer M, Zankl A, Simon M, Smithson S, et al. Mutation-based growth charts for SEDC and other COL2A1 related dysplasias. Am J Med Genet C Semin Med Genet. 2012;160C:205-16 pubmed publisher
    ..have constructed a growth chart for patients with molecularly confirmed congenital spondylo-epiphyseal dysplasia (SEDC) and other COL2A1 related dysplasias...
  2. Miyamoto Y, Matsuda T, Kitoh H, Haga N, Ohashi H, Nishimura G, et al. A recurrent mutation in type II collagen gene causes Legg-Calvé-Perthes disease in a Japanese family. Hum Genet. 2007;121:625-9 pubmed
    ..We have located a missense mutation (p.G1170S) in the type II collagen gene (COL2A1) in a Japanese family with an autosomal dominant hip disorder manifesting as LCPD and showing ..
  3. McAlinden A, Majava M, Bishop P, Perveen R, Black G, Pierpont M, et al. Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome. Hum Mutat. 2008;29:83-90 pubmed
    Stickler syndrome type I (STL1) is a phenotypically heterogeneous disorder characterized by ocular and extraocular features. It is caused by null-allele mutations in the COL2A1 gene that codes for procollagen II...
  4. Korkko J, Ritvaniemi P, Haataja L, Kaariainen H, Kivirikko K, Prockop D, et al. Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy). Am J Hum Genet. 1993;53:55-61 pubmed
  5. Su P, Zhang L, Peng Y, Liang A, Du K, Huang D. A histological and ultrastructural study of femoral head cartilage in a new type II collagenopathy. Int Orthop. 2010;34:1333-9 pubmed publisher
    ..The expression and distribution of type II collagen was non-uniform in sections of the mutant cartilage...
  6. Mortier G, Wilkin D, Wilcox W, Rimoin D, Lachman R, Eyre D, et al. A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (Gly691-->Arg) in the type II collagen trimer. Hum Mol Genet. 1995;4:285-8 pubmed
    ..of the major cyanogen bromide peptides, and suggested a mutation near the carboxyl terminus of the type II collagen molecule...
  7. Tiller G, Weis M, Polumbo P, Gruber H, Rimoin D, Cohn D, et al. An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita. Am J Hum Genet. 1995;56:388-95 pubmed
    Defects in type II collagen have been demonstrated in a phenotypic continuum of chondrodysplasias that includes achondrogenesis II, hypochondrogenesis, spondyloepiphyseal dysplasia congenita (SEDC), Kniest dysplasia, and Stickler syndrome...
  8. Edwards T, Burt B, Black G, Perveen R, Kearns L, Staffieri S, et al. Familial retinal detachment associated with COL2A1 exon 2 and FZD4 mutations. Clin Exp Ophthalmol. 2012;40:476-83 pubmed publisher
  9. Nishimura G, Haga N, Kitoh H, Tanaka Y, Sonoda T, Kitamura M, et al. The phenotypic spectrum of COL2A1 mutations. Hum Mutat. 2005;26:36-43 pubmed
    ..All six C-propeptide mutations produced a range of atypical skeletal phenotypes and created ocular, but not otolaryngological, changes. ..

More Information

Publications68

  1. Liu Y, Chen W, Lin Y, Yang R, Lin M, Li L, et al. Type II collagen gene variants and inherited osteonecrosis of the femoral head. N Engl J Med. 2005;352:2294-301 pubmed
    Avascular necrosis of the femoral head (ANFH) causes disability that often requires surgical intervention...
  2. Shrivastava A, Radziejewski C, Campbell E, Kovac L, McGlynn M, Ryan T, et al. An orphan receptor tyrosine kinase family whose members serve as nonintegrin collagen receptors. Mol Cell. 1997;1:25-34 pubmed
  3. Zhu Y, Oganesian A, Keene D, Sandell L. Type IIA procollagen containing the cysteine-rich amino propeptide is deposited in the extracellular matrix of prechondrogenic tissue and binds to TGF-beta1 and BMP-2. J Cell Biol. 1999;144:1069-80 pubmed
    ..Taken together, these results suggest that the NH2-propeptide of type IIA procollagen could function in the extracellular matrix distribution of bone morphogenetic proteins in chondrogenic tissue. ..
  4. Parma E, Korkko J, Hagler W, Ala Kokko L. Radial perivascular retinal degeneration: a key to the clinical diagnosis of an ocular variant of Stickler syndrome with minimal or no systemic manifestations. Am J Ophthalmol. 2002;134:728-34 pubmed
    ..The predominant ocular findings are a congenitally abnormal vitreous and an acquired radial perivascular retinal degeneration that may lead to complicated childhood and adult retinal detachment. ..
  5. Donoso L, Edwards A, Frost A, Ritter R, Ahmad N, Vrabec T, et al. Identification of a stop codon mutation in exon 2 of the collagen 2A1 gene in a large stickler syndrome family. Am J Ophthalmol. 2002;134:720-7 pubmed
    ..Given the variability of the Stickler phenotype, mutation detection allows for more comprehensive genetic counseling and directs clinical monitoring to family members inheriting the disease gene. ..
  6. Gupta S, Leonard B, Damji K, Bulman D. A frame shift mutation in a tissue-specific alternatively spliced exon of collagen 2A1 in Wagner's vitreoretinal degeneration. Am J Ophthalmol. 2002;133:203-10 pubmed
    ..To describe the genetic basis of an autosomal dominant vitreoretinopathy in a large French-Canadian kindred...
  7. Stenman M, Ainola M, Valmu L, Bjartell A, Ma G, Stenman U, et al. Trypsin-2 degrades human type II collagen and is expressed and activated in mesenchymally transformed rheumatoid arthritis synovitis tissue. Am J Pathol. 2005;167:1119-24 pubmed
    ..Here, we show that human trypsin-2 is also capable of cleaving the triple helix of human cartilage collagen type II...
  8. Richards A, Meredith S, Poulson A, Bearcroft P, Crossland G, Baguley D, et al. A novel mutation of COL2A1 resulting in dominantly inherited rhegmatogenous retinal detachment. Invest Ophthalmol Vis Sci. 2005;46:663-8 pubmed
    ..Mutation screening of COL2A1 identified a novel G118R mutation in type II collagen. Transfection of minigenes carrying mutations associated with DRRD (G118R, R453X, and L467F) into cultured ..
  9. Mortier G, Weis M, Nuytinck L, King L, Wilkin D, De Paepe A, et al. Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder. J Med Genet. 2000;37:263-71 pubmed
    ..dysplasia congenita (SEDC) are lethal forms of dwarfism caused by dominant mutations in the type II collagen gene (COL2A1)...
  10. Richards A, Laidlaw M, Whittaker J, Treacy B, Rai H, Bearcroft P, et al. High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1. Hum Mutat. 2006;27:696-704 pubmed
    ..Using splicing reporter constructs we demonstrate that a mutant GC donor splice site in intron 51 can be spliced normally; this contributed to the predominantly ocular phenotype in the family in which it occurred. ..
  11. Kannu P, Bateman J, Randle S, Cowie S, du Sart D, McGrath S, et al. Premature arthritis is a distinct type II collagen phenotype. Arthritis Rheum. 2010;62:1421-30 pubmed publisher
    Mutations in the gene encoding type II collagen (COL2A1) give rise to a spectrum of phenotypes predominantly affecting cartilage and bone...
  12. Richards A, Martin S, Yates J, Scott J, Baguley D, Pope F, et al. COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes. Br J Ophthalmol. 2000;84:364-71 pubmed
    ..These data confirm that type 1 Stickler syndrome is caused by mutations in the gene encoding type II collagen (COL2A1)...
  13. Kuivaniemi H, Tromp G, Prockop D. Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels. Hum Mutat. 1997;9:300-15 pubmed
  14. Kannu P, Irving M, Aftimos S, Savarirayan R. Two novel COL2A1 mutations associated with a Legg-Calvé-Perthes disease-like presentation. Clin Orthop Relat Res. 2011;469:1785-90 pubmed publisher
    ..These cases illustrate the importance of identifying individuals with a type II collagen abnormality, as it informs management, allows investigation for other complications, and provides the ..
  15. Ryan M, Sandell L. Differential expression of a cysteine-rich domain in the amino-terminal propeptide of type II (cartilage) procollagen by alternative splicing of mRNA. J Biol Chem. 1990;265:10334-9 pubmed
    b>Type II collagen, like other fibrillar collagens, is synthesized as a procollagen containing amino (NH2)-and carboxyl (COOH)-terminal extension peptides. Based on cDNA cloning of human (Baldwin, C. T., Reginato, A. M., Smith, C...
  16. Su P, Li R, Liu S, Zhou Y, Wang X, Patil N, et al. Age at onset-dependent presentations of premature hip osteoarthritis, avascular necrosis of the femoral head, or Legg-Calvé-Perthes disease in a single family, consequent upon a p.Gly1170Ser mutation of COL2A1. Arthritis Rheum. 2008;58:1701-6 pubmed publisher
  17. Chung H, Jensen D, Gawron K, Steplewski A, Fertala A. R992C (p.R1192C) Substitution in collagen II alters the structure of mutant molecules and induces the unfolded protein response. J Mol Biol. 2009;390:306-18 pubmed publisher
  18. Stickler G, Belau P, Farrell F, Jones J, Pugh D, Steinberg A, et al. HEREDITARY PROGRESSIVE ARTHRO-OPHTHALMOPATHY. Mayo Clin Proc. 1965;40:433-55 pubmed
  19. Li Z, Sun B, Gong T, Guo S, Zhang J, Wang J, et al. GNAI1 and GNAI3 Reduce Colitis-Associated Tumorigenesis in Mice by Blocking IL6 Signaling and Downregulating Expression of GNAI2. Gastroenterology. 2019;: pubmed publisher
    ..in CD11c+ or epithelial cells were given dextran sulfate sodium (DSS) to induce colitis followed by azoxymethane (AOM) to induce carcinogenesis; some mice were given an antibody against IL6...
  20. Wang H, Shan X, Qiao Y. PDK2 promotes chondrogenic differentiation of mesenchymal stem cells by upregulation of Sox6 and activation of JNK/MAPK/ERK pathway. Braz J Med Biol Res. 2017;50:e5988 pubmed publisher
    ..It lays the theoretical groundwork for uncovering the functions of PDK2 and provides a promising basis for repairing cartilage lesions in osteoarthritis. ..
  21. Akhtar N, Khan N, Ashruf O, Haqqi T. Inhibition of cartilage degradation and suppression of PGE2 and MMPs expression by pomegranate fruit extract in a model of posttraumatic osteoarthritis. Nutrition. 2017;33:1-13 pubmed publisher
    ..Interleukin (IL)-1 ?, MMP-13, IL-6, prostaglandin (PG)E2, and type II collagen (COL2A1) levels in synovial fluid/plasma/culture media were quantified using enzyme-linked immunosorbent ..
  22. Alshenibr W, Tashkandi M, Alsaqer S, Alkheriji Y, Wise A, Fulzele S, et al. Anabolic role of lysyl oxidase like-2 in cartilage of knee and temporomandibular joints with osteoarthritis. Arthritis Res Ther. 2017;19:179 pubmed publisher
    ..Our results suggest that although LOXL2 is upregulated in cartilage affected by OA, this may be a protective response that promotes anabolism while inhibiting specific catabolic responses in the pathophysiology of OA. ..
  23. Chen Q, Liu W, Gao H, Shi M, Lian Y. [Short- and medium-term effectivenesses of stemless hip arthroplasty for treating hip joint disease in young and middle-aged patients]. Zhongguo Xiu Fu Chong Jian Wai Ke Za Zhi. 2014;28:1062-5 pubmed
    ..The causes included avascular necrosis of the femoral head (ANFH) secondary to femoral neck fracture in 5 cases (5 hips), ANFH in 15 cases (16 hips), osteoarthritis of the hip ..
  24. Guner S, Guner S, Gokalp M, Ceylan M, Unsal S, Demir H. Do the trace elements play a role in the etiopathogenesis of developmental dysplasia of hip?. Eur Rev Med Pharmacol Sci. 2018;22:910-913 pubmed publisher
    ..This work should be supported by future studies concerning the causes of the alterations in the serum trace element levels seen in patients with developmental dysplasia of the hip. ..
  25. Baldwin C, Reginato A, Smith C, Jimenez S, Prockop D. Structure of cDNA clones coding for human type II procollagen. The alpha 1(II) chain is more similar to the alpha 1(I) chain than two other alpha chains of fibrillar collagens. Biochem J. 1989;262:521-8 pubmed
    ..The results therefore suggest that selective pressure in the evolution of the pro alpha 1(II) and pro alpha 1(I) genes is more similar than the selective pressure in the evolution of the pro alpha 2(I) and pro alpha 1(III) genes. ..
  26. Richards A, McNinch A, Whittaker J, Treacy B, Oakhill K, Poulson A, et al. Splicing analysis of unclassified variants in COL2A1 and COL11A1 identifies deep intronic pathogenic mutations. Eur J Hum Genet. 2012;20:552-8 pubmed publisher
    ..Another variant produces transcripts that result in either haploinsufficiency or a dominant negative effect, potentially modifying the disease phenotype. ..
  27. Valdes A, Loughlin J, Oene M, Chapman K, Surdulescu G, Doherty M, et al. Sex and ethnic differences in the association of ASPN, CALM1, COL2A1, COMP, and FRZB with genetic susceptibility to osteoarthritis of the knee. Arthritis Rheum. 2007;56:137-46 pubmed
    ..02). Our results indicate that genetic polymorphisms affecting knee OA vary between populations (Japanese versus Caucasian) and sexes and indicate a role for ASPN, COMP, FRZB, and COL2A1 in Caucasians. ..
  28. Deeth R, Halcrow M, Kershaw Cook L, Raithby P. Ab Initio Ligand Field Molecular Mechanics and the Nature of Metal-Ligand ?-Bonding in Fe(II) 2,6-di(pyrazol-1-yl)pyridine Spin Crossover Complexes. Chemistry. 2017;: pubmed publisher
    ..The LFMM angular overlap model (AOM) parameters are fitted to fully ab initio d orbital energies. However, several AOM parameters sets are possible...
  29. Spickett C, Hysi P, Hammond C, Prescott A, Fincham G, Poulson A, et al. Deep Intronic Sequence Variants in COL2A1 Affect the Alternative Splicing Efficiency of Exon 2, and May Confer a Risk for Rhegmatogenous Retinal Detachment. Hum Mutat. 2016;37:1085-96 pubmed publisher
    COL2A1 mutations causing haploinsufficiency of type II collagen cause type 1 Stickler syndrome that has a high risk of retinal detachment and failure of the vitreous to develop normally...
  30. Müller S, Soder S, Oliveira A, Inwards C, Aigner T. Type II collagen as specific marker for mesenchymal chondrosarcomas compared to other small cell sarcomas of the skeleton. Mod Pathol. 2005;18:1088-94 pubmed
    ..cell osteosarcomas (n=3), and desmoplastic small round cell tumors (n=1)), we could establish the presence of type II collagen in the extracellular tumor matrix of the small cell areas of mesenchymal chondrosarcomas as a specific and ..
  31. Zhang M, Su H, Yan J, Li N, Song Z, Wang H, et al. Chemopreventive effect of Myricetin, a natural occurring compound, on colonic chronic inflammation and inflammation-driven tumorigenesis in mice. Biomed Pharmacother. 2018;97:1131-1137 pubmed publisher
    ..Mice were sacrificed and the number of colonic polyps was counted. Myricetin significantly inhibited AOM/DSS-induced colitis and colorectal tumorigenesis...
  32. Su M, Lee B, Ramirez F, Machado M, Horton W. Nucleotide sequence of the full length cDNA encoding for human type II procollagen. Nucleic Acids Res. 1989;17:9473 pubmed
  33. Shahab U, Ahmad S, Moinuddin -, Dixit K, Habib S, Alam K, et al. Hydroxyl radical modification of collagen type II increases its arthritogenicity and immunogenicity. PLoS ONE. 2012;7:e31199 pubmed publisher
    ..Collagen induced arthritis (CIA) in rodents (rats and mice) is an accepted experimental model for RA...
  34. Miyamoto C, Matsumoto T, Sakimura K, Shindo H. Osteogenic protein-1 with transforming growth factor-beta1: potent inducer of chondrogenesis of synovial mesenchymal stem cells in vitro. J Orthop Sci. 2007;12:555-61 pubmed
    ..histologically with safranin O staining, reverse transcription polymerase chain reaction for aggrecan and type II collagen mRNA, and quantification of glycosaminoglycan (GAG) content using a dimethylmethylene blue dye-binding assay...
  35. Wilkin D, Bogaert R, Lachman R, Rimoin D, Eyre D, Cohn D. A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasia. Hum Mol Genet. 1994;3:1999-2003 pubmed
    Kniest dysplasia is a moderately severe chondrodysplasia phenotype that results from mutations in the gene for type II collagen, COL2A1...
  36. Bleasel J, Holderbaum D, Brancolini V, Moskowitz R, Considine E, Prockop D, et al. Five families with arginine 519-cysteine mutation in COL2A1: evidence for three distinct founders. Hum Mutat. 1998;12:172-6 pubmed
    ..Thus the arg519 codon appears to represent a possible site of recurrent mutations in COL2A1, an uncommon phenomenon in collagen genes. ..
  37. Zhong L, Huang X, Karperien M, Post J. Correlation between Gene Expression and Osteoarthritis Progression in Human. Int J Mol Sci. 2016;17: pubmed publisher
    ..This helps to understand the molecular pathology of OA and may lead to the development of therapies based on OA stage. ..
  38. Go S, Maugeri A, Mulder J, van Driel M, Cremers F, Hoyng C. Autosomal dominant rhegmatogenous retinal detachment associated with an Arg453Ter mutation in the COL2A1 gene. Invest Ophthalmol Vis Sci. 2003;44:4035-43 pubmed
    ..In contrast, the Arg453Ter mutation and other protein-truncating mutations in the helical domain of COL2A1 have been associated until now with classic Stickler syndrome. ..
  39. Jakkula E, Melkoniemi M, Kiviranta I, Lohiniva J, Räinä S, Perala M, et al. The role of sequence variations within the genes encoding collagen II, IX and XI in non-syndromic, early-onset osteoarthritis. Osteoarthritis Cartilage. 2005;13:497-507 pubmed
    We sought to determine whether sequence variations in cartilage collagen genes are associated with primary, early-onset osteoarthritis (OA)...
  40. Nishimura G, Nakashima E, Mabuchi A, Shimamoto K, Shimamoto T, Shimao Y, et al. Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type. J Med Genet. 2004;41:75-9 pubmed
  41. Hanker A, Estrada M, Bianchini G, Moore P, Zhao J, Cheng F, et al. Extracellular Matrix/Integrin Signaling Promotes Resistance to Combined Inhibition of HER2 and PI3K in HER2+ Breast Cancer. Cancer Res. 2017;77:3280-3292 pubmed publisher
    ..Overall, these data suggest that upregulation of collagen/integrin/Src signaling contributes to resistance to combinatorial HER2 and PI3K inhibition. Cancer Res; 77(12); 3280-92. ©2017 AACR. ..
  42. Spranger J, Winterpacht A, Zabel B. Kniest dysplasia: Dr. W. Kniest, his patient, the molecular defect. Am J Med Genet. 1997;69:79-84 pubmed
    Kniest dysplasia is a severe chondrodysplasia caused by the defective formation of type II collagen. We report about Dr...
  43. Yin H, Yuan Z, Wang D. Multiple drilling combined with simvastatin versus multiple drilling alone for the treatment of avascular osteonecrosis of the femoral head: 3-year follow-up study. BMC Musculoskelet Disord. 2016;17:344 pubmed publisher
    ..decompression is widely used to preserve the femoral head in patients with avascular necrosis of the femoral head (ANFH). Nevertheless, the clinical outcome remains controversial...
  44. Cao L, Wang L, Ji C, Wang L, Ma H, Luo Y. Novel and recurrent COL2A1 mutations in Chinese patients with spondyloepiphyseal dysplasia. Genet Mol Res. 2012;11:4130-7 pubmed publisher
    ..The p.G504S mutation has been associated with diverse phenotypes in previous studies. Our study extends the mutation spectrum of SED and confirms a relationship between mutations in the COL2A1 gene and clinical findings of SED. ..
  45. Somasundaram R, Schuppan D. Type I, II, III, IV, V, and VI collagens serve as extracellular ligands for the isoforms of platelet-derived growth factor (AA, BB, and AB). J Biol Chem. 1996;271:26884-91 pubmed
    ..Our data are in accord with previous studies that localized PDGF in the extracellular matrix of fibroproliferative lesions and suggest that binding of PDGF to collagens may localize and modulate its biological activities. ..
  46. Omoto T, Kim Kaneyama J, Lei X, Orimo A, Ohnishi K, Yoshihara K, et al. The impact of stromal Hic-5 on the tumorigenesis of colorectal cancer through lysyl oxidase induction and stromal remodeling. Oncogene. 2018;37:1205-1219 pubmed publisher
    ..the function and significance of Hic-5 in colorectal cancer in vivo, we utilized a mouse model of azoxymethane (AOM)-induced colorectal cancer using Hic-5-deficient mice...
  47. Narakornsak S, Aungsuchawan S, Pothacharoen P, Markmee R, Tancharoen W, Laowanitwattana T, et al. Sesamin encouraging effects on chondrogenic differentiation of human amniotic fluid-derived mesenchymal stem cells. Acta Histochem. 2017;119:451-461 pubmed publisher
    ..COL11A1, and COMP and also simultaneously promote the cartilage extracellular protein synthesis, aggrecan and type II collagen. Additionally, histological analysis revealed a high amount of accumulated sGAG staining inside the porous ..
  48. Bader J, Enos R, Velazquez K, Carson M, Nagarkatti M, Nagarkatti P, et al. Macrophage depletion using clodronate liposomes decreases tumorigenesis and alters gut microbiota in the AOM/DSS mouse model of colon cancer. Am J Physiol Gastrointest Liver Physiol. 2017;:ajpgi.00229.2017 pubmed publisher
    ..To induce CRC, male C57BL/6 mice (n=32) received a single injection of azoxymethane (AOM) followed by three cycles of dextran sodium sulfate (DSS) supplemented water at weeks 1, 4, and 7, respectively...
  49. Li S, Zhou H, Qin H, Guo H, Bai Y. A novel mutation in the COL2A1 gene in a Chinese family with Spondyloepiphyseal dysplasia congenita. Joint Bone Spine. 2014;81:86-9 pubmed publisher
    Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant skeletal dysplasia characterized by short stature, diminished joint mobility, dislocation of hip, absent femoral head ossification, scoliosis and flattened vertebral ..
  50. Ritvaniemi P, Hyland J, Ignatius J, Kivirikko K, Prockop D, Ala Kokko L. A fourth example suggests that premature termination codons in the COL2A1 gene are a common cause of the Stickler syndrome: analysis of the COL2A1 gene by denaturing gradient gel electrophoresis. Genomics. 1993;17:218-21 pubmed
  51. Richards A, Laidlaw M, Meredith S, Shankar P, Poulson A, Scott J, et al. Missense and silent mutations in COL2A1 result in Stickler syndrome but via different molecular mechanisms. Hum Mutat. 2007;28:639 pubmed
    ..the result of premature termination codons and nonsense mediated decay resulting in haploinsufficiency of type II collagen. Here we present two missense mutations and one apparently silent mutation that each result in Stickler ..
  52. Eble J, Beermann B, Hinz H, Schmidt Hederich A. alpha 2beta 1 integrin is not recognized by rhodocytin but is the specific, high affinity target of rhodocetin, an RGD-independent disintegrin and potent inhibitor of cell adhesion to collagen. J Biol Chem. 2001;276:12274-84 pubmed
    ..We showed that rhodocetin is able to inhibit alpha(2)beta(1) integrin-mediated adhesion of fibrosarcoma cells to type I collagen completely. ..
  53. Yokoyama T, Nakatani S, Murakami A. A case of Kniest dysplasia with retinal detachment and the mutation analysis. Am J Ophthalmol. 2003;136:1186-8 pubmed
    To report a case of Kniest dysplasia with retinal detachment associated with a novel type II collagen gene (COL2A1) mutation. Interventional case report...
  54. Fahrig T, Landa C, Pesheva P, Kuhn K, Schachner M. Characterization of binding properties of the myelin-associated glycoprotein to extracellular matrix constituents. EMBO J. 1987;6:2875-83 pubmed
    ..These findings are in agreement with previous observations on the localization of MAG in basal lamina and interstitial collagens of the sciatic nerve in situ. ..
  55. Horie M, Choi H, Lee R, Reger R, Ylostalo J, Muneta T, et al. Intra-articular injection of human mesenchymal stem cells (MSCs) promote rat meniscal regeneration by being activated to express Indian hedgehog that enhances expression of type II collagen. Osteoarthritis Cartilage. 2012;20:1197-207 pubmed publisher
    ..hMSCs injection increased expression of rat type II collagen (rat-Col II), and inhibited osteoarthritis progression...
  56. Annunen S, Korkko J, Czarny M, Warman M, Brunner H, Kaariainen H, et al. Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. Am J Hum Genet. 1999;65:974-83 pubmed
    ..Null-allele mutations in the COL2A1 gene led to a typical phenotype of Stickler syndrome. Some patients, however, presented with phenotypes of both Marshall and Stickler syndromes. ..
  57. Wilkin D, Artz A, South S, Lachman R, Rimoin D, Wilcox W, et al. Small deletions in the type II collagen triple helix produce kniest dysplasia. Am J Med Genet. 1999;85:105-12 pubmed
    ..Mutations in the gene that encodes type II collagen (COL2A1), the predominant protein of cartilage, have been identified in a number of individuals with Kniest ..
  58. Xu L, Qiu X, Zhu Z, Yi L, Qiu Y. A novel mutation in COL2A1 leading to spondyloepiphyseal dysplasia congenita in a three-generation family. Eur Spine J. 2014;23 Suppl 2:271-7 pubmed publisher
    To investigate the genotype of COL2A1 in a three-generation spondyloepiphyseal dysplasia congenita (SEDC) family. Five affected individuals from a Chinese SEDC family were enrolled in the study...
  59. Walter K, Tansek M, Tobias E, Ikegawa S, Coucke P, Hyland J, et al. COL2A1-related skeletal dysplasias with predominant metaphyseal involvement. Am J Med Genet A. 2007;143A:161-7 pubmed
    ..The observation of these individuals with metaphyseal dysplasia indicates that the phenotypic spectrum associated with mutations in type 2 collagen, the main cartilage protein, is even wider than hitherto assumed. ..