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Zhou, V. COL11A2 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5190 (accessed on 22 September 2026).
Zhou V. COL11A2 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5190. Accessed September 22, 2026.
Zhou, Vicky. "COL11A2 Gene" Encyclopedia, https://encyclopedia.pub/entry/5190 (accessed September 22, 2026).
Zhou, V. (2020, December 24). COL11A2 Gene. In Encyclopedia. https://encyclopedia.pub/entry/5190
Zhou, Vicky. "COL11A2 Gene." Encyclopedia. Web. 24 December, 2020.
COL11A2 Gene
Edit

collagen type XI alpha 2 chain

genes

References

  1. Chakchouk I, Grati M, Bademci G, Bensaid M, Ma Q, Chakroun A, Foster J 2nd,Yan D, Duman D, Diaz-Horta O, Ghorbel A, Mittal R, Farooq A, Tekin M, Masmoudi S,Liu XZ. Novel mutations confirm that COL11A2 is responsible for autosomalrecessive non-syndromic hearing loss DFNB53. Mol Genet Genomics. 2015Aug;290(4):1327-34. doi: 10.1007/s00438-015-0995-9.
  2. Chen W, Kahrizi K, Meyer NC, Riazalhosseini Y, Van Camp G, Najmabadi H, Smith RJ. Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus. J Med Genet. 2005 Oct;42(10):e61.
  3. De Leenheer EM, Kunst HH, McGuirt WT, Prasad SD, Brown MR, Huygen PL, SmithRJ, Cremers CW. Autosomal dominant inherited hearing impairment caused by amissense mutation in COL11A2 (DFNA13). Arch Otolaryngol Head Neck Surg. 2001Jan;127(1):13-7.
  4. Harel T, Rabinowitz R, Hendler N, Galil A, Flusser H, Chemke J, Gradstein L,Lifshitz T, Ofir R, Elbedour K, Birk OS. COL11A2 mutation associated withautosomal recessive Weissenbacher-Zweymuller syndrome: molecular and clinicaloverlap with otospondylomegaepiphyseal dysplasia (OSMED). Am J Med Genet A. 2005 Jan 1;132A(1):33-5.
  5. Jakkula E, Melkoniemi M, Kiviranta I, Lohiniva J, Räinä SS, Perälä M, WarmanML, Ahonen K, Kröger H, Göring HH, Ala-Kokko L. The role of sequence variationswithin the genes encoding collagen II, IX and XI in non-syndromic, early-onsetosteoarthritis. Osteoarthritis Cartilage. 2005 Jun;13(6):497-507.
  6. McGuirt WT, Prasad SD, Griffith AJ, Kunst HP, Green GE, Shpargel KB, Runge C, Huybrechts C, Mueller RF, Lynch E, King MC, Brunner HG, Cremers CW, Takanosu M,Li SW, Arita M, Mayne R, Prockop DJ, Van Camp G, Smith RJ. Mutations in COL11A2cause non-syndromic hearing loss (DFNA13). Nat Genet. 1999 Dec;23(4):413-9.
  7. 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. Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associatedwith loss-of-function mutations in the COL11A2 gene. Am J Hum Genet. 2000Feb;66(2):368-77.
  8. Pihlajamaa T, Prockop DJ, Faber J, Winterpacht A, Zabel B, Giedion A,Wiesbauer P, Spranger J, Ala-Kokko L. Heterozygous glycine substitution in theCOL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndromedemonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome). Am J Med Genet. 1998 Nov 2;80(2):115-20.
  9. Ryder JJ, Garrison K, Song F, Hooper L, Skinner J, Loke Y, Loughlin J, HigginsJP, MacGregor AJ. Genetic associations in peripheral joint osteoarthritis andspinal degenerative disease: a systematic review. Ann Rheum Dis. 2008May;67(5):584-91.
  10. Tompson SW, Faqeih EA, Ala-Kokko L, Hecht JT, Miki R, Funari T, Funari VA,Nevarez L, Krakow D, Cohn DH. Dominant and recessive forms of fibrochondrogenesisresulting from mutations at a second locus, COL11A2. Am J Med Genet A. 2012Feb;158A(2):309-14. doi: 10.1002/ajmg.a.34406.
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