"Nucleotide sequence of the full length cDNA encoding for human type II procollagen."
Su M.W. , Lee B. , Ramirez F. , Machado M.A. , Horton W.A.
Nucleic Acids Res.17:9473-9473(1989) [PubMed] [Europe PMC] [Abstract]

"Conservation of the sizes of 53 introns and over 100 intronic sequences for the binding of common transcription factors in the human and mouse genes for type II procollagen (COL2A1)."
Ala-Kokko L. , Kvist A.-P. , Metsaranta M. , Kivirikko K.I. , de Crombrugghe B. , Prockop D.J. , Vuorio E.
Biochem. J.308:923-929(1995) [PubMed] [Europe PMC] [Abstract]

"Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
Kalnine N. , Chen X. , Rolfs A. , Halleck A. , Hines L. , Eisenstein S. , Koundinya M. , Raphael J. , Moreira D. , Kelley T. , LaBaer J. , Lin Y. , Phelan M. , Farmer A.
Submitted (2003-05) to the EMBL/GenBank/DDBJ databases

"The finished DNA sequence of human chromosome 12."
Scherer S.E. , Muzny D.M. , Buhay C.J. , Chen R. , Cree A. , Ding Y. , Dugan-Rocha S. , Gill R. , Gunaratne P. , Harris R.A. , Hawes A.C. , Hernandez J. , Hodgson A.V. , Hume J. , Jackson A. , Khan Z.M. , Kovar-Smith C. , Lewis L.R. , Lozado R.J. , Metzker M.L. , Milosavljevic A. , Miner G.R. , Montgomery K.T. , Morgan M.B. , Nazareth L.V. , Scott G. , Sodergren E. , Song X.-Z. , Steffen D. , Lovering R.C. , Wheeler D.A. , Worley K.C. , Yuan Y. , Zhang Z. , Adams C.Q. , Ansari-Lari M.A. , Ayele M. , Brown M.J. , Chen G. , Chen Z. , Clerc-Blankenburg K.P. , Davis C. , Delgado O. , Dinh H.H. , Draper H. , Gonzalez-Garay M.L. , Havlak P. , Jackson L.R. , Jacob L.S. , Kelly S.H. , Li L. , Li Z. , Liu J. , Liu W. , Lu J. , Maheshwari M. , Nguyen B.-V. , Okwuonu G.O. , Pasternak S. , Perez L.M. , Plopper F.J.H. , Santibanez J. , Shen H. , Tabor P.E. , Verduzco D. , Waldron L. , Wang Q. , Williams G.A. , Zhang J. , Zhou J. , Allen C.C. , Amin A.G. , Anyalebechi V. , Bailey M. , Barbaria J.A. , Bimage K.E. , Bryant N.P. , Burch P.E. , Burkett C.E. , Burrell K.L. , Calderon E. , Cardenas V. , Carter K. , Casias K. , Cavazos I. , Cavazos S.R. , Ceasar H. , Chacko J. , Chan S.N. , Chavez D. , Christopoulos C. , Chu J. , Cockrell R. , Cox C.D. , Dang M. , Dathorne S.R. , David R. , Davis C.M. , Davy-Carroll L. , Deshazo D.R. , Donlin J.E. , D'Souza L. , Eaves K.A. , Egan A. , Emery-Cohen A.J. , Escotto M. , Flagg N. , Forbes L.D. , Gabisi A.M. , Garza M. , Hamilton C. , Henderson N. , Hernandez O. , Hines S. , Hogues M.E. , Huang M. , Idlebird D.G. , Johnson R. , Jolivet A. , Jones S. , Kagan R. , King L.M. , Leal B. , Lebow H. , Lee S. , LeVan J.M. , Lewis L.C. , London P. , Lorensuhewa L.M. , Loulseged H. , Lovett D.A. , Lucier A. , Lucier R.L. , Ma J. , Madu R.C. , Mapua P. , Martindale A.D. , Martinez E. , Massey E. , Mawhiney S. , Meador M.G. , Mendez S. , Mercado C. , Mercado I.C. , Merritt C.E. , Miner Z.L. , Minja E. , Mitchell T. , Mohabbat F. , Mohabbat K. , Montgomery B. , Moore N. , Morris S. , Munidasa M. , Ngo R.N. , Nguyen N.B. , Nickerson E. , Nwaokelemeh O.O. , Nwokenkwo S. , Obregon M. , Oguh M. , Oragunye N. , Oviedo R.J. , Parish B.J. , Parker D.N. , Parrish J. , Parks K.L. , Paul H.A. , Payton B.A. , Perez A. , Perrin W. , Pickens A. , Primus E.L. , Pu L.-L. , Puazo M. , Quiles M.M. , Quiroz J.B. , Rabata D. , Reeves K. , Ruiz S.J. , Shao H. , Sisson I. , Sonaike T. , Sorelle R.P. , Sutton A.E. , Svatek A.F. , Svetz L.A. , Tamerisa K.S. , Taylor T.R. , Teague B. , Thomas N. , Thorn R.D. , Trejos Z.Y. , Trevino B.K. , Ukegbu O.N. , Urban J.B. , Vasquez L.I. , Vera V.A. , Villasana D.M. , Wang L. , Ward-Moore S. , Warren J.T. , Wei X. , White F. , Williamson A.L. , Wleczyk R. , Wooden H.S. , Wooden S.H. , Yen J. , Yoon L. , Yoon V. , Zorrilla S.E. , Nelson D. , Kucherlapati R. , Weinstock G. , Gibbs R.A. more...
Nature440:346-351(2006) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"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."
Baldwin C.T. , Reginato A.M. , Smith C. , Jimenez S.A. , Prockop D.J.
Biochem. J.262:521-528(1989) [PubMed] [Europe PMC] [Abstract]

"Organization of the exons coding for pro alpha 1(II) collagen N-propeptide confirms a distinct evolutionary history of this domain of the fibrillar collagen genes."
Su M.W. , Benson-Chanda V. , Vissing H. , Ramirez F.
Genomics4:438-441(1989) [PubMed] [Europe PMC] [Abstract]

"The human type II procollagen gene: identification of an additional protein-coding domain and location of potential regulatory sequences in the promoter and first intron."
Ryan M.C. , Sieraski M. , Sandell L.J.
Genomics8:41-48(1990) [PubMed] [Europe PMC] [Abstract]

"Promoter region of the human pro-alpha 1(II)-collagen gene."
Nunez A.M. , Kohno K. , Martin G.R. , Yamada Y.
Gene44:11-16(1986) [PubMed] [Europe PMC] [Abstract]

"Structural analysis of the regulatory elements of the type-II procollagen gene. Conservation of promoter and first intron sequences between human and mouse."
Vikkula M. , Metsaranta M. , Syvaenen A.-C. , Ala-Kokko L. , Vuorio E. , Peltonen L.
Biochem. J.285:287-294(1992) [PubMed] [Europe PMC] [Abstract]

"Differential expression of a cysteine-rich domain in the amino-terminal propeptide of type II (cartilage) procollagen by alternative splicing of mRNA."
Ryan M.C. , Sandell L.J.
J. Biol. Chem.265:10334-10339(1990) [PubMed] [Europe PMC] [Abstract]

"Genomic organization of the human procollagen alpha 1(II) collagen gene."
Huang M.C. , Seyer J.M. , Thompson J.P. , Spinella D.G. , Cheah K.S. , Kang A.H.
Eur. J. Biochem.195:593-600(1991) [PubMed] [Europe PMC] [Abstract]

"Collagen type IX from human cartilage: a structural profile of intermolecular cross-linking sites."
Diab M. , Wu J.J. , Eyre D.R.
Biochem. J.314:327-332(1996) [PubMed] [Europe PMC] [Abstract]

"Immunohistochemical and biochemical analyses of 20,000-25,000-year-old fossil cartilage."
Franc S. , Marzin E. , Boutillon M.-M. , Lafont R. , Lechene de la Porte P. , Herbage D.
Eur. J. Biochem.234:125-131(1995) [PubMed] [Europe PMC] [Abstract]

"An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita."
Tiller G.E. , Weis M.A. , Polumbo P.A. , Gruber H.E. , Rimoin D.L. , Cohn D.H. , Eyre D.R.
Am. J. Hum. Genet.56:388-395(1995) [PubMed] [Europe PMC] [Abstract]

Ramirez F.
Submitted (1988-12) to the EMBL/GenBank/DDBJ databases

"Isolation and partial characterization of the entire human pro alpha 1(II) collagen gene."
Sangiorgi F.O. , Benson-Chanda V. , de Wet W.J. , Sobel M.E. , Tsipouras P. , Ramirez F.
Nucleic Acids Res.13:2207-2225(1985) [PubMed] [Europe PMC] [Abstract]

"Structural analyses of the polymorphic area in type II collagen gene."
Vikkula M. , Peltonen L.
FEBS Lett.250:171-174(1989) [PubMed] [Europe PMC] [Abstract]

"Identification and characterization of the human type II collagen gene (COL2A1)."
Cheah K.S.E. , Stoker N.G. , Griffin J.R. , Grosveld F.G. , Solomon E.
Proc. Natl. Acad. Sci. U.S.A.82:2555-2559(1985) [PubMed] [Europe PMC] [Abstract]

"An amino acid substitution (Gly853-->Glu) in the collagen alpha 1(II) chain produces hypochondrogenesis."
Bogaert R. , Tiller G.E. , Wies M.A. , Gruber H.E. , Rimoin D.L. , Cohn D.H. , Eyre D.R.
J. Biol. Chem.267:22522-22526(1992) [PubMed] [Europe PMC] [Abstract]

"Low basal transcription of genes for tissue-specific collagens by fibroblasts and lymphoblastoid cells. Application to the characterization of a glycine 997 to serine substitution in alpha 1(II) collagen chains of a patient with spondyloepiphyseal dysplasia."
Chan D. , Cole W.G.
J. Biol. Chem.266:12487-12494(1991) [PubMed] [Europe PMC] [Abstract]

"Identification of the molecular defect in a family with spondyloepiphyseal dysplasia."
Lee B. , Vissing H. , Ramirez F. , Rogers D. , Rimoin D.L.
Science244:978-980(1989) [PubMed] [Europe PMC] [Abstract]

"Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia."
Tiller G.E. , Rimoin D.L. , Murray L.W. , Cohn D.H.
Proc. Natl. Acad. Sci. U.S.A.87:3889-3893(1990) [PubMed] [Europe PMC] [Abstract]

"Determination of the single polyadenylation site of the human pro alpha 1(II) collagen gene."
Elima K. , Vuorio T. , Vuorio E.
Nucleic Acids Res.15:9499-9504(1987) [PubMed] [Europe PMC] [Abstract]

"Construction and identification of a cDNA clone for human type II procollagen mRNA."
Elima K. , Maekelae J.K. , Vuorio T. , Kauppinen S. , Knowles J. , Vuorio E.
Biochem. J.229:183-188(1985) [PubMed] [Europe PMC] [Abstract]

"Chondrocalcin is identical with the C-propeptide of type II procollagen."
Van der Rest M. , Rosenberg L.C. , Olsen B.R. , Poole A.R.
Biochem. J.237:923-925(1986) [PubMed] [Europe PMC] [Abstract]

"Isolation and characterization of genomic clones corresponding to the human type II procollagen gene."
Strom C.M. , Upholt W.B.
Nucleic Acids Res.12:1025-1038(1984) [PubMed] [Europe PMC] [Abstract]

"Isolation and partial characterization of genomic clones coding for a human pro-alpha 1 (II) collagen chain and demonstration of restriction fragment length polymorphism at the 3' end of the gene."
Nunez A.M. , Francomano C. , Young M.F. , Martin G.R. , Yamada Y.
Biochemistry24:6343-6348(1985) [PubMed] [Europe PMC] [Abstract]

"X-ray crystal structure of HLA-DR4 (DRA*0101, DRB1*0401) complexed with a peptide from human collagen II."
Dessen A. , Lawrence C.M. , Cupo S. , Zaller D.M. , Wiley D.C.
Immunity7:473-481(1997) [PubMed] [Europe PMC] [Abstract]

"Solution structure and dynamics of a prototypical chordin-like cysteine-rich repeat (von Willebrand Factor type C module) from collagen IIA."
O'Leary J.M. , Hamilton J.M. , Deane C.M. , Valeyev N.V. , Sandell L.J. , Downing A.K.
J. Biol. Chem.279:53857-53866(2004) [PubMed] [Europe PMC] [Abstract]

"Mutations in collagen genes: causes of rare and some common diseases in humans."
Kuivaniemi H. , Tromp G. , Prockop D.J.
FASEB J.5:2052-2060(1991) [PubMed] [Europe PMC] [Abstract]

"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."
Kuivaniemi H. , Tromp G. , Prockop D.J.
Hum. Mutat.9:300-315(1997) [PubMed] [Europe PMC] [Abstract]

"Glycine to serine substitution in the triple helical domain of pro-alpha 1 (II) collagen results in a lethal perinatal form of short-limbed dwarfism."
Vissing H. , D'Alessio M. , Lee B. , Ramirez F. , Godfrey M. , Hollister D.W.
J. Biol. Chem.264:18265-18267(1989) [PubMed] [Europe PMC] [Abstract]

"Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia."
Ala-Kokko L. , Baldwin C.T. , Moskowitz R.W. , Prockop D.J.
Proc. Natl. Acad. Sci. U.S.A.87:6565-6568(1990) [PubMed] [Europe PMC] [Abstract]

"Cartilage expression of a type II collagen mutation in an inherited form of osteoarthritis associated with a mild chondrodysplasia."
Eyre D.R. , Weis M.A. , Moskowitz R.W.
J. Clin. Invest.87:357-361(1991) [PubMed] [Europe PMC] [Abstract]

"Characterization of a type II collagen gene (COL2A1) mutation identified in cultured chondrocytes from human hypochondrogenesis."
Horton W.A. , Machado M.A. , Ellard J. , Campbell D. , Bartley J. , Ramirez F. , Vitale E. , Lee B.
Proc. Natl. Acad. Sci. U.S.A.89:4583-4587(1992) [PubMed] [Europe PMC] [Abstract]

"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)."
Koerkkoe J. , Ritvaniemi P. , Haataja L. , Kaeaeriaeinen H. , Kivirikko K.I. , Prockop D.J. , Ala-Kokko L.
Am. J. Hum. Genet.53:55-61(1993) [PubMed] [Europe PMC] [Abstract]

"A dominant mutation in the type II collagen gene (COL2A1) produces spondyloepimetaphyseal dysplasia (SEMD), Strudwick type."
Tiller G.E. , Weis M.A. , Lachman R.S. , Cohn D.H. , Rimoin D.L. , Eyre D.R.
Am. J. Hum. Genet.53:A209-A209(1993)

"Human cartilage from late stage familial osteoarthritis transcribes type II collagen mRNA encoding a cysteine in position 519."
Holderbaum D. , Malemud C.J. , Moskowitz R.W. , Haqqi T.M.
Biochem. Biophys. Res. Commun.192:1169-1174(1993) [PubMed] [Europe PMC] [Abstract]

"A mutation in the amino-terminal end of the triple helix of type II collagen causing severe osteochondrodysplasia."
Vikkula M. , Ritvaniemi P. , Vuorio A.F. , Kaitila I. , Ala-Kokko L. , Peltonen L.
Genomics16:282-285(1993) [PubMed] [Europe PMC] [Abstract]

"Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family with an Arg75-->Cys mutation in the procollagen type II gene (COL2A1)."
Williams C.J. , Considine E.L. , Knowlton R.G. , Reginato A. , Neumann G. , Harrison D. , Buxton P. , Jimenez S.A. , Prockop D.J.
Hum. Genet.92:499-505(1993) [PubMed] [Europe PMC] [Abstract]

"Characterization of an arginine 789 to cysteine substitution in alpha 1 (II) collagen chains of a patient with spondyloepiphyseal dysplasia."
Chan D. , Taylor T.K.F. , Cole W.G.
J. Biol. Chem.268:15238-15245(1993) [PubMed] [Europe PMC] [Abstract]

"The clinical features of spondyloepiphyseal dysplasia congenita resulting from the substitution of glycine 997 by serine in the alpha 1(II) chain of type II collagen."
Cole W.G. , Hall R.K. , Rogers J.G.
J. Med. Genet.30:27-35(1993) [PubMed] [Europe PMC] [Abstract]

"Expression, in cartilage, of a 7-amino-acid deletion in type II collagen from two unrelated individuals with Kniest dysplasia."
Bogaert R. , Wilkin D.J. , Wilcox W.R. , Lachman R.S. , Rimoin D.L. , Cohn D.H. , Eyre D.R.
Am. J. Hum. Genet.55:1128-1136(1994) [PubMed] [Europe PMC] [Abstract]

"A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasia."
Wilkin D.J. , Bogaert R. , Lachman R.S. , Rimoin D.L. , Eyres D.R. , Cohn D.H.
Hum. Mol. Genet.3:1999-2003(1994) [PubMed] [Europe PMC] [Abstract]

"A single base mutation in the type II procollagen gene (COL2A1) that converts glycine alpha 1-247 to serine in a family with late-onset spondyloepiphyseal dysplasia."
Ritvaniemi P. , Sokolov B.P. , Williams C.J. , Considine W. , Yurgenev L. , Meerson E.M. , Ala-Kokko L. , Prockop D.J.
Hum. Mutat.3:261-267(1994) [PubMed] [Europe PMC] [Abstract]

"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."
Mortier G.R. , Wilkin D.J. , Wilcox W.R. , Rimoin D.L. , Lachman R.S. , Eyre D.R. , Cohn D.H.
Hum. Mol. Genet.4:285-288(1995) [PubMed] [Europe PMC] [Abstract]

"Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519-->Cys base substitution using conformation sensitive gel electrophoresis."
Williams C.J. , Rock M. , Considine E.L. , McCarron S. , Gow P. , Ladda R. , McLain D. , Michels V.M. , Murphy W. , Prockop D.J. , Ganguly A.
Hum. Mol. Genet.4:309-312(1995) [PubMed] [Europe PMC] [Abstract]

"A COL2A1 mutation in achondrogenesis type II results in the replacement of type II collagen by type I and III collagens in cartilage."
Chan D. , Cole W.G. , Chow C.W. , Mundlos S. , Bateman J.F.
J. Biol. Chem.270:1747-1753(1995) [PubMed] [Europe PMC] [Abstract]

"Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type."
Tiller G.E. , Polumbo P.A. , Weis M.A. , Bogaert R. , Lachman R.S. , Cohn D.H. , Rimoin D.L. , Eyre D.R.
Nat. Genet.11:87-89(1995) [PubMed] [Europe PMC] [Abstract]

"An alpha 1(II) Gly913 to Cys substitution prevents the matrix incorporation of type II collagen which is replaced with type I and III collagens in cartilage from a patient with hypochondrogenesis."
Mundlos S. , Chan D. , McGill J. , Bateman J.F.
Am. J. Med. Genet.63:129-136(1996) [PubMed] [Europe PMC] [Abstract]

"The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasia."
Winterpacht A. , Superti-Furga A. , Schwarze U. , Stoess H. , Steinmann B. , Spranger J. , Zabel B.
J. Med. Genet.33:649-654(1996) [PubMed] [Europe PMC] [Abstract]

"Stickler-like syndrome due to a dominant negative mutation in the COL2A1 gene."
Ballo R. , Beighton P.H. , Ramesar R.S.
Am. J. Med. Genet.80:6-11(1998) [PubMed] [Europe PMC] [Abstract]

"Five families with arginine 519-cysteine mutation in COL2A1: evidence for three distinct founders."
Bleasel J.F. , Holderbaum D. , Brancolini V. , Moskowitz R.W. , Considine E.L. , Prockop D.J. , Devoto M. , Williams C.J.
Hum. Mutat.12:172-176(1998) [PubMed] [Europe PMC] [Abstract]

"Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helix."
Richards A.J. , Baguley D.M. , Yates J.R.W. , Lane C. , Nicol M. , Harper P.S. , Scott J.D. , Snead M.P.
Am. J. Hum. Genet.67:1083-1094(2000) [PubMed] [Europe PMC] [Abstract]

"Boy with syndactylies, macrocephaly, and severe skeletal dysplasia: not a new syndrome, but two dominant mutations (GLI3 E543X and COL2A1 G973R) in the same individual."
Sobetzko D. , Eich G. , Kalff-Suske M. , Grzeschik K.-H. , Superti-Furga A.
Am. J. Med. Genet.90:239-242(2000) [PubMed] [Europe PMC] [Abstract]

"Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis."
Koerkkoe J. , Cohn D.H. , Ala-Kokko L. , Krakow D. , Prockop D.J.
Am. J. Med. Genet.92:95-100(2000) [PubMed] [Europe PMC] [Abstract]

"Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder."
Mortier G.R. , Weis M. , Nuytinck L. , King L.M. , Wilkin D.J. , De Paepe A. , Lachman R.S. , Rimoin D.L. , Eyre D.R. , Cohn D.H.
J. Med. Genet.37:263-271(2000) [PubMed] [Europe PMC] [Abstract]

"Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita."
Unger S. , Koerkkoe J. , Krakow D. , Lachman R.S. , Rimoin D.L. , Cohn D.H.
Am. J. Med. Genet.104:140-146(2001) [PubMed] [Europe PMC] [Abstract]

"Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type II collagenopathy resulting from a novel mutation in the C-propeptide region of the molecule."
Richards A.J. , Morgan J. , Bearcroft P.W.P. , Pickering E. , Owen M.J. , Holmans P. , Williams N. , Tysoe C. , Pope F.M. , Snead M.P. , Hughes H.
J. Med. Genet.39:661-665(2002) [PubMed] [Europe PMC] [Abstract]

"Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicism."
Faivre L. , Le Merrer M. , Douvier S. , Laurent N. , Thauvin-Robinet C. , Rousseau T. , Vereecke I. , Sagot P. , Delezoide A.-L. , Coucke P. , Mortier G.
Am. J. Med. Genet. A126:308-312(2004) [PubMed] [Europe PMC] [Abstract]

"Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1."
Zankl A. , Zabel B. , Hilbert K. , Wildhardt G. , Cuenot S. , Xavier B. , Ha-Vinh R. , Bonafe L. , Spranger J. , Superti-Furga A.
Am. J. Med. Genet. A129:144-148(2004) [PubMed] [Europe PMC] [Abstract]

"Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type."
Nishimura G. , Nakashima E. , Mabuchi A. , Shimamoto K. , Shimamoto T. , Shimao Y. , Nagai T. , Yamaguchi T. , Kosaki R. , Ohashi H. , Makita Y. , Ikegawa S.
J. Med. Genet.41:75-79(2004) [PubMed] [Europe PMC] [Abstract]

"Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies."
Zankl A. , Neumann L. , Ignatius J. , Nikkels P. , Schrander-Stumpel C. , Mortier G. , Omran H. , Wright M. , Hilbert K. , Bonafe L. , Spranger J. , Zabel B. , Superti-Furga A.
Am. J. Med. Genet. A133:61-67(2005) [PubMed] [Europe PMC] [Abstract]

"Novel amino acid substitution in the Y-position of collagen type II causes spondyloepimetaphyseal dysplasia congenita."
Sulko J. , Czarny-Ratajczak M. , Wozniak A. , Latos-Bielenska A. , Kozlowski K.
Am. J. Med. Genet. A137:292-297(2005) [PubMed] [Europe PMC] [Abstract]

"A novel mutation of COL2A1 resulting in dominantly inherited rhegmatogenous retinal detachment."
Richards A.J. , Meredith S. , Poulson A. , Bearcroft P. , Crossland G. , Baguley D.M. , Scott J.D. , Snead M.P.
Invest. Ophthalmol. Vis. Sci.46:663-668(2005) [PubMed] [Europe PMC] [Abstract]

"Type II collagen gene variants and inherited osteonecrosis of the femoral head."
Liu Y.-F. , Chen W.-M. , Lin Y.-F. , Yang R.-C. , Lin M.-W. , Li L.-H. , Chang Y.-H. , Jou Y.-S. , Lin P.-Y. , Su J.-S. , Huang S.-F. , Hsiao K.-J. , Fann C.S.J. , Hwang H.-W. , Chen Y.-T. , Tsai S.-F.
N. Engl. J. Med.352:2294-2301(2005) [PubMed] [Europe PMC] [Abstract]

"High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1."
Richards A.J. , Laidlaw M. , Whittaker J. , Treacy B. , Rai H. , Bearcroft P. , Baguley D.M. , Poulson A. , Ang A. , Scott J.D. , Snead M.P.
Hum. Mutat.27:696-704(2006) [PubMed] [Europe PMC] [Abstract]

"A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and 'patchy' expression in the mosaic father."
Forzano F. , Lituania M. , Viassolo A. , Superti-Furga V. , Wildhardt G. , Zabel B. , Faravelli F.
Am. J. Med. Genet. A143:2815-2820(2007) [PubMed] [Europe PMC] [Abstract]

"A recurrent mutation in type II collagen gene causes Legg-Calve-Perthes disease in a Japanese family."
Miyamoto Y. , Matsuda T. , Kitoh H. , Haga N. , Ohashi H. , Nishimura G. , Ikegawa S.
Hum. Genet.121:625-629(2007) [PubMed] [Europe PMC] [Abstract]

"Czech dysplasia: report of a large family and further delineation of the phenotype."
Tzschach A. , Tinschert S. , Kaminsky E. , Lusga E. , Mundlos S. , Graul-Neumann L.M.
Am. J. Med. Genet. A146:1859-1864(2008) [PubMed] [Europe PMC] [Abstract]

"Natural variation in four human collagen genes across an ethnically diverse population."
Chan T.F. , Poon A. , Basu A. , Addleman N.R. , Chen J. , Phong A. , Byers P.H. , Klein T.E. , Kwok P.Y.
Genomics91:307-314(2008) [PubMed] [Europe PMC] [Abstract]

"Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome."
McAlinden A. , Majava M. , Bishop P.N. , Perveen R. , Black G.C.M. , Pierpont M.E. , Ala-Kokko L. , Maennikkoe M.
Hum. Mutat.29:83-90(2008) [PubMed] [Europe PMC] [Abstract]

"Czech dysplasia occurring in a Japanese family."
Matsui Y. , Michigami T. , Tachikawa K. , Yamazaki M. , Kawabata H. , Nishimura G.
Am. J. Med. Genet. A149:2285-2289(2009) [PubMed] [Europe PMC] [Abstract]

"Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1."
Richards A.J. , McNinch A. , Martin H. , Oakhill K. , Rai H. , Waller S. , Treacy B. , Whittaker J. , Meredith S. , Poulson A. , Snead M.P.
Hum. Mutat.31:E1461-E1471(2010) [PubMed] [Europe PMC] [Abstract]

"Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution."
Jackson G.C. , Mittaz-Crettol L. , Taylor J.A. , Mortier G.R. , Spranger J. , Zabel B. , Le Merrer M. , Cormier-Daire V. , Hall C.M. , Offiah A. , Wright M.J. , Savarirayan R. , Nishimura G. , Ramsden S.C. , Elles R. , Bonafe L. , Superti-Furga A. , Unger S. , Zankl A. , Briggs M.D. more...
Hum. Mutat.33:144-157(2012) [PubMed] [Europe PMC] [Abstract]