308 related articles for article (PubMed ID: 8893763)
1. Alternative splicing of exon 12 of the COL2A1 gene interrupts the triple helix of type-II collagen in the Kniest form of spondyloepiphyseal dysplasia.
Chen L; Yang W; Cole WG
J Orthop Res; 1996 Sep; 14(5):712-21. PubMed ID: 8893763
[TBL] [Abstract][Full Text] [Related]
2. Incorporation of structurally defective type II collagen into cartilage matrix in kniest chondrodysplasia.
Fernandes RJ; Wilkin DJ; Weis MA; Wilcox WR; Cohn DH; Rimoin DL; Eyre DR
Arch Biochem Biophys; 1998 Jul; 355(2):282-90. PubMed ID: 9675039
[TBL] [Abstract][Full Text] [Related]
3. Expression, in cartilage, of a 7-amino-acid deletion in type II collagen from two unrelated individuals with Kniest dysplasia.
Bogaert R; Wilkin D; Wilcox WR; Lachman R; Rimoin D; Cohn DH; Eyre DR
Am J Hum Genet; 1994 Dec; 55(6):1128-36. PubMed ID: 7977371
[TBL] [Abstract][Full Text] [Related]
4. Recurrent substitutions of arginine 789 by cysteine in pro-alpha 1 (II) collagen chains produce spondyloepiphyseal dysplasia congenita.
Chan D; Rogers JF; Bateman JF; Cole WG
J Rheumatol Suppl; 1995 Feb; 43():37-8. PubMed ID: 7752132
[TBL] [Abstract][Full Text] [Related]
5. Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutation.
Weis MA; Wilkin DJ; Kim HJ; Wilcox WR; Lachman RS; Rimoin DL; Cohn DH; Eyre DR
J Biol Chem; 1998 Feb; 273(8):4761-8. PubMed ID: 9468540
[TBL] [Abstract][Full Text] [Related]
6. Recurrent transition at a CG dinucleotide in exon 12 of COL2A1 produces kniest dysplasia with abnormal RNA splicing by chondrocytes and lymphoblasts and interruption of the triple helix of type II collagen.
Chen L; Yang W; Cole WG
Ann N Y Acad Sci; 1996 Jun; 785():234-7. PubMed ID: 8702139
[No Abstract] [Full Text] [Related]
7. Small deletions in the type II collagen triple helix produce kniest dysplasia.
Wilkin DJ; Artz AS; South S; Lachman RS; Rimoin DL; Wilcox WR; McKusick VA; Stratakis CA; Francomano CA; Cohn DH
Am J Med Genet; 1999 Jul; 85(2):105-12. PubMed ID: 10406661
[TBL] [Abstract][Full Text] [Related]
8. An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita.
Tiller GE; Weis MA; Polumbo PA; Gruber HE; Rimoin DL; Cohn DH; Eyre DR
Am J Hum Genet; 1995 Feb; 56(2):388-95. PubMed ID: 7847372
[TBL] [Abstract][Full Text] [Related]
9. Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect.
Winterpacht A; Hilbert M; Schwarze U; Mundlos S; Spranger J; Zabel BU
Nat Genet; 1993 Apr; 3(4):323-6. PubMed ID: 7981752
[TBL] [Abstract][Full Text] [Related]
10. Characterization of an arginine 789 to cysteine substitution in alpha 1 (II) collagen chains of a patient with spondyloepiphyseal dysplasia.
Chan D; Taylor TK; Cole WG
J Biol Chem; 1993 Jul; 268(20):15238-45. PubMed ID: 8325895
[TBL] [Abstract][Full Text] [Related]
11. 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; Stöss H; Steinmann B; Spranger J; Zabel B
J Med Genet; 1996 Aug; 33(8):649-54. PubMed ID: 8863156
[TBL] [Abstract][Full Text] [Related]
12. Y-position collagen II mutation disrupts cartilage formation and skeletal development in a transgenic mouse model of spondyloepiphyseal dysplasia.
Gaiser KG; Maddox BK; Bann JG; Boswell BA; Keene DR; Garofalo S; Horton WA
J Bone Miner Res; 2002 Jan; 17(1):39-47. PubMed ID: 11771668
[TBL] [Abstract][Full Text] [Related]
13. 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 WG
J Biol Chem; 1991 Jul; 266(19):12487-94. PubMed ID: 1905723
[TBL] [Abstract][Full Text] [Related]
14. A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasia.
Wilkin DJ; Bogaert R; Lachman RS; Rimoin DL; Eyre DR; Cohn DH
Hum Mol Genet; 1994 Nov; 3(11):1999-2003. PubMed ID: 7874117
[TBL] [Abstract][Full Text] [Related]
15. Disproportionate micromelia (Dmm) in mice caused by a mutation in the C-propeptide coding region of Col2a1.
Pace JM; Li Y; Seegmiller RE; Teuscher C; Taylor BA; Olsen BR
Dev Dyn; 1997 Jan; 208(1):25-33. PubMed ID: 8989518
[TBL] [Abstract][Full Text] [Related]
16. Abnormal skeletal growth in Kniest dysplasia caused by type II collagen mutations.
Cole WG
Clin Orthop Relat Res; 1997 Aug; (341):162-9. PubMed ID: 9269170
[TBL] [Abstract][Full Text] [Related]
17. Deletions and duplications of Gly-Xaa-Yaa triplet repeats in the triple helical domains of type I collagen chains disrupt helix formation and result in several types of osteogenesis imperfecta.
Pace JM; Atkinson M; Willing MC; Wallis G; Byers PH
Hum Mutat; 2001 Oct; 18(4):319-26. PubMed ID: 11668615
[TBL] [Abstract][Full Text] [Related]
18. 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 JF
Am J Med Genet; 1996 May; 63(1):129-36. PubMed ID: 8723098
[TBL] [Abstract][Full Text] [Related]
19. The phenotypic spectrum of COL2A1 mutations.
Nishimura G; Haga N; Kitoh H; Tanaka Y; Sonoda T; Kitamura M; Shirahama S; Itoh T; Nakashima E; Ohashi H; Ikegawa S
Hum Mutat; 2005 Jul; 26(1):36-43. PubMed ID: 15895462
[TBL] [Abstract][Full Text] [Related]
20. Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome.
McAlinden A; Majava M; Bishop PN; Perveen R; Black GC; Pierpont ME; Ala-Kokko L; Männikkö M
Hum Mutat; 2008 Jan; 29(1):83-90. PubMed ID: 17721977
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
