SEARCH

SEARCH BY CITATION

REFERENCES

  • Annunen S, Körkkö J, Czarny M, Warman ML, Brunner HG, Kääriäinen H, Mulliken JB, Tranebjærg L, Brooks DG, Cox GF, Cruysberg JR, Curtis MA, Davenport SLH, Friedrich CA, Kaitila I, Krawczynski MR, Latos-Bielenska A, Mukai S, Olsen BR, Shinno N, Somer M, Vikkula M, Zlotogora J, Prockop DJ, Ala-Kokko L. 1999. 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 65: 974983.
  • Aszódi A, Chan D, Hunziker E, Bateman JF, Fässler R. 1998. Collagen II is essential for the removal of the notochord and the formation of intervertebral discs. J Cell Biol 143: 13991412.
  • Balmain N, Leguellec D, Elkak A, Nars G, Toury R, Schoevaert D. 1995. Zonal variations of types II, IX, and XI collagen mRNAs in rat epiphyseal cartilage chondrocytes: quantitative evaluation of in situ hybridization by image analysis of radioautography. Cell Mol Biol 41: 197212.
  • Bernard M, Yoshioka H, Rodriguez E, van der Rest M, Kimura T, Ninomiya Y, Olsen BR, Ramirez F. 1988. Cloning and sequencing of pro-alpha 1 (XI) collagen cDNA demonstrates that type XI belongs to the fibrillar class of collagens and reveals that the expression of the gene is not restricted to cartilaginous tissue. J Biol Chem 263: 1715917166.
  • Brown KE, Lawrence R, Sonenshein GE. 1991. Concerted modulation of α1(XI) and α2(V) collagen mRNAs in bovine vascular smooth muscle cells. J Biol Chem 266: 2326823273.
  • Burgeson RE, Hollister DW. 1979. Collagen heterogeneity in human cartilage: identification of several new collagen chains. Biochem Biophys Res Commun 87: 11241131.
  • Burgeson RE, Hebda PA, Morris NP, Hollister DW. 1982. Human cartilage collagens. Comparison of cartilage collagens with human type V collagen. J Biol Chem 257: 78527856.
  • Culbertson MR. 1999. RNA surveillance: unforeseen consequences for gene expression, inherited genetic disorders and cancer. Trends Genet 15: 7480.
  • Eyre D, Wu J. 1987. In: Mayne R, BurgesonRE, editors. Structure and function of collagen types. New York: Academic Press. p 261281.
  • Fässler R, Schnegelsberg PN, Dausman J, Shinya T, Muragaki Y, McCarthy MT, Olsen BR, Jaenisch R. 1994. Mice lacking alpha 1 (IX) collagen develop noninflammatory degenerative joint disease. Proc Natl Acad Sci USA 91: 50705074.
  • Fichard A, Tillet E, Delacous F, Garrone R, Ruggiero F. 1997. Human recombinant α1(V) collagen chain. J Biol Chem 272: 3008330087.
  • Forsberg E, Hirsch E, Frölich L, Meyer M, Ekblom P, Aszódi A, Werner S, Fässler R. 1996. Skin wounds and severed nerves heal normally in mice lacking tenascin-C. Proc Natl Acad Sci USA 93: 65646599.
  • Griffith AJ, Sprunger LK, Sirko-Osadsa DA, Tiller GE, Meisler MH, Warman ML. 1998. Marshall syndrome associated with a splicing defect at the COL11A1 locus. Am J Hum Genet 62: 816823.
  • Hagg R, Hedbom E, Möllers W, Aszódi A, Fässler R. 1997. Absence of the α1(IX) chains leads to a functional knock-out of the entire collagen IX protein in mice. J Biol Chem 272: 2065020654.
  • Hunziker EG. 1998. Growth plate formation, structure, and function. In: BuckwalterJA, EhrlichMG, SandellLJ, TrippelSB, editors. Skeletal growth and development. Rosemont, IL: American Academy of Orthopaedic Surgeons. p 187202.
  • Johnson J, Shinomura T, Eberspaecher H, Pinero G, deCrombrugghe B, Hook M. 1999. Expression and localization of PG-Lb/epiphycan during mouse development. Dev Dyn 216: 499510.
  • Keene DR, Oxford JT, Morris NP. 1995. Ultrastructural localization of collagen types II, IX, and XI in the growth plate of human rib and fetal bovine epiphyseal cartilage: type XI collagen is restricted to thin fibrils. J Histochem Cytochem 43: 967979.
  • Kleman J-P, Hartmann DJ, Ramirez F, van der Rest M. 1992. The human rhabdomyosarcoma cell line A204 lays down a highly insoluble matrix composed mainly of α1 type-XI and α2 type-V collagen chains. Eur J Biochem 210: 329335.
  • Lapveteläinen T, Hyttinen M, Lindblom J, Långsjö TK, Sironen R, Li S-W, Arita M, Prockop DJ, Puustjαrvi K, Helminen HJ. 2001. More knee joint osteoarthritis (OA) in mice after inactivation of one allele of type II procollagen gene but less OA after lifelong voluntary wheel running exercise. Osteoarthritis Cartilage 9: 152160.
  • Li Y, Lacerda DA, Warman ML, Beier DR, Yoshioka H, Ninomiya Y, Oxford JT, Morris NP, Andrikopoulos K, Ramirez F, Wardell BB, Lifferth GD, Teuscher C, Woodward SR, Taylor BA, Seegmiller RE, Olsen BR. 1995. A fibrillar collagen gene, COL11A1, is essential for skeletal morphogenesis. Cell 80: 423430.
  • Lui VC, Ng LJ, Sat WE, Cheah KS. 1996. The human α2(XI) collagen gene (COL11A2): completion of coding information, identification of the promoter sequence, and precise localization within the major histocompatibility complex reveal overlap with the KE5 gene. Genomics 32: 401412.
  • Martin S, Richards AJ, Yates JRW, Scott JD, Pope M, Snead MP. 1999. Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneity. Eur J Hum Genet 7: 807814.
  • Mayne R, Burgeson RE. 1987. Structure and function of collagen types. New York: Academic Press.
  • Mayne R, Brewton RG, Mayne PM, Baker JR. 1993. Isolation and characterization of the chains of type V/type XI collagen present in bovine vitreous. J Biol Chem 268: 93819386.
  • Mayne R, Mayne PM, Ren Z-X, Accavitti MA, Gurusiddappa S, Scott PG. 1994. Monoclonal antibody to the aminotelopeptide of type II collagen: loss of the epitope after stromelysin digestion. Connect Tissue Res 31: 1121.
  • McGuirt WT, Prasad SD, Griffith AJ, Kunst HPM, Green GE, Shpargel KB, Runge C, Huybrechts C, Mueller RF, Lynch E, King M-C, Brunner HG, Cremers CWRJ, Takanosu M, Li S-W, Arita M, Mayne R, Prockop DJ, Van Camp G, Smith RJH. 1999. Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13). Nat Genet 23: 413419.
  • McLaughlin SK, Margolskee RF. 1993. 33P is preferable to 35S for labeling probes used in in situ hybridization. Biotechniques 15: 506511.
  • Melkoniemi M, Brunner HG, Manouvrier S, Hennekam R, Superti-Furga A, Kääriäinen H, Pauli RM, van Essen T, Warman ML, Bonaventure J, Miny P, Ala-Kokko L. 2000. Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene. Am J Hum Genet 66: 368377.
  • Morris NP, Bächinger H-P. 1987. Type XI collagen is a heterotrimer with the composition (1 alpha, 2 alpha, 3 alpha) retaining non-triple-helical domains. J Biol Chem 262: 1134511350.
  • Morris NP, Watt SL, David JM, Bächinger H-P. 1990. Unfolding intermediates in the triple helix to coil transition of bovine type XI collagen and human type V collagens alpha1(2), alpha 2 and alpha 1, alpha 2, alpha 3. J Biol Chem 265: 1008110087.
  • Niyibizi C, Eyre DR. 1989. Identification of the cartilage α1(XI) chain in type V collagen from bovine bone. FEBS Lett 242: 314318.
  • Pihlajamaa T, Prockop DJ, Faber J, Winterpacht A, Zabel B, Giedion A, Wiesbauer P, Spranger J, Ala-Kokko L. 1998. Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymuller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome). Am J Med Genet 80: 115120.
  • Prockop DJ, Kivirikko KI. 1995. Collagen: molecular biology, diseases and potentials for therapy. Annu Rev Biochem 64: 403434.
  • Reese CA, Mayne R. 1981. Minor collagens of chicken hyaline cartilage. Biochemistry 20: 54435448.
  • Richards AJ, Yates JR, Williams R, Payne SJ, Pope FM, Scott JD, Snead MP. 1996. A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in α1(XI) collagen. Hum Mol Genet 5: 13391343.
  • Sandell LJ, Sugai JV, Trippel SB. 1994. Expression of collagens I, II, X, and XI and aggrecan mRNAs by bovine growth plate chondrocytes in situ. J Orthop Res 12: 14.
  • Sirko-Osadsa DA, Murray MA, Scott JA, Lavery MA, Warman ML, Robin NH. 1998. Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the α2(XI) chain of type XI collagen. J Pediatr 132: 368371.
  • Thom JR, Morris NP. 1991. Biosynthesis and proteolytic processing of type XI collagen in embryonic chick sterna. J Biol Chem 266: 72627269.
  • Tybulewicz VLJ, Crawford CE, Jackson PK, Bronson RT, Mulligan RC. 1991. Neonatal lethality and lymphopenia in mice with a homozygous disruption of the c-abl proto-oncogene. Cell 65: 11531163.
  • Vandenberg P, Vuoristo MM, Ala-Kokko L, Prockop DJ. 1996. The mouse col11a2 gene. Some transcripts from the adjacent rxr-β gene extend into the col11a2 gene. Matrix Biol 15: 359367.
  • van Steensel MA, Buma P, de Waal Malefijt MS, van den Hoogen FH, Brunner HG. 1997. Oto-spondylo-metaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene. Am J Med Genet 13: 315323.
  • Vikkula M, Mariman ECM, Lui VCH, Zhidkova NI, Tiller GE, Goldring MB, van Beersum SEC, de Waal Malefijt MC, van den Hoogen FJH, Ropers HH, Mayne R, Cheah KSE, Olsen BR, Warman ML, Brunner HG. 1995. Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus. Cell 80: 431437.
  • Vornehm SI, Dudhia J, von der Mark K, Aigner T. 1996. Expression of collagen types IX and XI and other major cartilage matrix components by human fetal chondrocytes in vivo. Matrix Biol 15: 9198.
  • Vuorio E, de Crombrugghe B. 1990. The family of collagen genes. Annu Rev Biochem 59: 837372.
  • Wardale RJ, Duance, VC. 1993. Quantification and immunolocalisation of porcine articular and growth plate cartilage collagens. J Cell Sci 105: 975984.