Cheah KS, Stoker NG, Griffin JR, Grosveld FG, Solomon E. Identification andcharacterization of the human type II collagen gene (COL2A1). Proc Natl Acad Sci U S A. 1985 May;82(9):2555-9.
Donoso LA, Edwards AO, Frost AT, Ritter R 3rd, Ahmad N, Vrabec T, Rogers J,Meyer D, Parma S. Clinical variability of Stickler syndrome: role of exon 2 ofthe collagen COL2A1 gene. Surv Ophthalmol. 2003 Mar-Apr;48(2):191-203. Review.
Go SL, Maugeri A, Mulder JJ, van Driel MA, Cremers FP, Hoyng CB. Autosomaldominant rhegmatogenous retinal detachment associated with an Arg453Ter mutation in the COL2A1 gene. Invest Ophthalmol Vis Sci. 2003 Sep;44(9):4035-43.
Hoornaert KP, Marik I, Kozlowski K, Cole T, Le Merrer M, Leroy JG, Coucke PJ, Sillence D, Mortier GR. Czech dysplasia metatarsal type: another type II collagendisorder. Eur J Hum Genet. 2007 Dec;15(12):1269-75.
Kannu P, Bateman J, Savarirayan R. Clinical phenotypes associated with type IIcollagen mutations. J Paediatr Child Health. 2012 Feb;48(2):E38-43. doi:10.1111/j.1440-1754.2010.01979.x.
Kannu P, Bateman JF, Randle S, Cowie S, du Sart D, McGrath S, Edwards M,Savarirayan R. Premature arthritis is a distinct type II collagen phenotype.Arthritis Rheum. 2010 May;62(5):1421-30. doi: 10.1002/art.27354.
Körkkö J, Cohn DH, Ala-Kokko L, Krakow D, Prockop DJ. Widely distributedmutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis. Am J Med Genet. 2000 May 15;92(2):95-100.
Liu YF, Chen WM, Lin YF, Yang RC, Lin MW, Li LH, Chang YH, Jou YS, Lin PY, Su JS, Huang SF, Hsiao KJ, Fann CS, Hwang HW, Chen YT, Tsai SF. Type II collagengene variants and inherited osteonecrosis of the femoral head. N Engl J Med. 2005Jun 2;352(22):2294-301.
Miyamoto Y, Matsuda T, Kitoh H, Haga N, Ohashi H, Nishimura G, Ikegawa S. Arecurrent mutation in type II collagen gene causes Legg-Calvé-Perthes disease in a Japanese family. Hum Genet. 2007 Jun;121(5):625-9.
Mortier GR, Weis M, Nuytinck L, King LM, Wilkin DJ, De Paepe A, Lachman RS,Rimoin DL, Eyre DR, Cohn DH. Report of five novel and one recurrent COL2A1mutations with analysis of genotype-phenotype correlation in patients with alethal type II collagen disorder. J Med Genet. 2000 Apr;37(4):263-71.
Nishimura G, Haga N, Kitoh H, Tanaka Y, Sonoda T, Kitamura M, Shirahama S,Itoh T, Nakashima E, Ohashi H, Ikegawa S. The phenotypic spectrum of COL2A1mutations. Hum Mutat. 2005 Jul;26(1):36-43.
Prockop DJ. Type II collagen and avascular necrosis of the femoral head. NEngl J Med. 2005 Jun 2;352(22):2268-70.
Richards AJ, Baguley DM, Yates JR, Lane C, Nicol M, Harper PS, Scott JD, SneadMP. Variation in the vitreous phenotype of Stickler syndrome can be caused bydifferent amino acid substitutions in the X position of the type II collagenGly-X-Y triple helix. Am J Hum Genet. 2000 Nov;67(5):1083-94.
Richards AJ, Meredith S, Poulson A, Bearcroft P, Crossland G, Baguley DM,Scott JD, Snead MP. A novel mutation of COL2A1 resulting in dominantly inherited rhegmatogenous retinal detachment. Invest Ophthalmol Vis Sci. 2005Feb;46(2):663-8.
Su P, Li R, Liu S, Zhou Y, Wang X, Patil N, Mow CS, Mason JC, Huang D, Wang Y.Age at onset-dependent presentations of premature hip osteoarthritis, avascularnecrosis of the femoral head, or Legg-Calvé-Perthes disease in a single family,consequent upon a p.Gly1170Ser mutation of COL2A1. Arthritis Rheum. 2008Jun;58(6):1701-6. doi: 10.1002/art.23491.
Tiller GE, Polumbo PA, Weis MA, Bogaert R, Lachman RS, Cohn DH, Rimoin DL,Eyre DR. Dominant mutations in the type II collagen gene, COL2A1, producespondyloepimetaphyseal dysplasia, Strudwick type. Nat Genet. 1995 Sep;11(1):87-9.
Wilkin DJ, Artz AS, South S, Lachman RS, Rimoin DL, Wilcox WR, McKusick VA,Stratakis CA, Francomano CA, Cohn DH. Small deletions in the type II collagentriple helix produce kniest dysplasia. Am J Med Genet. 1999 Jul 16;85(2):105-12.
Zabel B, Hilbert K, Stöss H, Superti-Furga A, Spranger J, Winterpacht A. Aspecific collagen type II gene (COL2A1) mutation presenting as spondyloperipheraldysplasia. Am J Med Genet. 1996 May 3;63(1):123-8.
Zankl A, Neumann L, Ignatius J, Nikkels P, Schrander-Stumpel C, Mortier G,Omran H, Wright M, Hilbert K, Bonafé L, Spranger J, Zabel B, Superti-Furga A.Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondyliclethal skeletal dysplasia, torrance type, and define a novel subfamily within thetype 2 collagenopathies. Am J Med Genet A. 2005 Feb 15;133A(1):61-7.
Zankl A, Zabel B, Hilbert K, Wildhardt G, Cuenot S, Xavier B, Ha-Vinh R,Bonafé L, Spranger J, Superti-Furga A. Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1. Am J Med Genet A. 2004 Aug30;129A(2):144-8.
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