Cole WG - Search Results

1

A base substitution at a splice site in the COL3A1 gene causes exon skipping and generates abnormal type III procollagen in a patient with Ehlers-Danlos syndrome type IV.

Cole WG, Chiodo AA, Lamande SR, Janeczko R, Ramirez F, Dahl HH, Chan D, Bateman JF. Cole WG, et al. J Biol Chem. 1990 Oct 5;265(28):17070-7. J Biol Chem. 1990. PMID: 2145268 Free article.

2

Peptide analysis of collagen produced from cDNA by transcription and translation in vitro.

Bateman JF, Lamande S, Chan D, Cole WG. Bateman JF, et al. Among authors: cole wg. Biochem J. 1987 Jul 15;245(2):393-8. doi: 10.1042/bj2450393. Biochem J. 1987. PMID: 3663165 Free PMC article.

3

Abnormal type III collagen produced by an exon-17-skipping mutation of the COL3A1 gene in Ehlers-Danlos syndrome type IV is not incorporated into the extracellular matrix.

Chiodo AA, Sillence DO, Cole WG, Bateman JF. Chiodo AA, et al. Among authors: cole wg. Biochem J. 1995 Nov 1;311 ( Pt 3)(Pt 3):939-43. doi: 10.1042/bj3110939. Biochem J. 1995. PMID: 7487954 Free PMC article.

4

Endoplasmic reticulum-mediated quality control of type I collagen production by cells from osteogenesis imperfecta patients with mutations in the pro alpha 1 (I) chain carboxyl-terminal propeptide which impair subunit assembly.

Lamandé SR, Chessler SD, Golub SB, Byers PH, Chan D, Cole WG, Sillence DO, Bateman JF. Lamandé SR, et al. Among authors: cole wg. J Biol Chem. 1995 Apr 14;270(15):8642-9. doi: 10.1074/jbc.270.15.8642. J Biol Chem. 1995. PMID: 7721766 Free article.

5

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. Chan D, et al. Among authors: cole wg. J Rheumatol Suppl. 1995 Feb;43:37-8. J Rheumatol Suppl. 1995. PMID: 7752132

6

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 WG, Chow CW, Mundlos S, Bateman JF. Chan D, et al. Among authors: cole wg. J Biol Chem. 1995 Jan 27;270(4):1747-53. J Biol Chem. 1995. PMID: 7829510 Free article.

7

Type X collagen multimer assembly in vitro is prevented by a Gly618 to Val mutation in the alpha 1(X) NC1 domain resulting in Schmid metaphyseal chondrodysplasia.

Chan D, Cole WG, Rogers JG, Bateman JF. Chan D, et al. Among authors: cole wg. J Biol Chem. 1995 Mar 3;270(9):4558-62. doi: 10.1074/jbc.270.9.4558. J Biol Chem. 1995. PMID: 7876225 Free article.

8

A 5' splice site mutation affecting the pre-mRNA splicing of two upstream exons in the collagen COL1A1 gene. Exon 8 skipping and altered definition of exon 7 generates truncated pro alpha 1(I) chains with a non-collagenous insertion destabilizing the triple helix.

Bateman JF, Chan D, Moeller I, Hannagan M, Cole WG. Bateman JF, et al. Among authors: cole wg. Biochem J. 1994 Sep 15;302 ( Pt 3)(Pt 3):729-35. doi: 10.1042/bj3020729. Biochem J. 1994. PMID: 7945197 Free PMC article.

9

The clinical features of Ehlers-Danlos syndrome type VIIB resulting from a base substitution at the splice acceptor site of intron 5 of the COL1A2 gene.

Carr AJ, Chiodo AA, Hilton JM, Chow CW, Hockey A, Cole WG. Carr AJ, et al. Among authors: cole wg. J Med Genet. 1994 Apr;31(4):306-11. doi: 10.1136/jmg.31.4.306. J Med Genet. 1994. PMID: 8071956 Free PMC article.

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. Chan D, et al. Among authors: cole wg. J Biol Chem. 1993 Jul 15;268(20):15238-45. J Biol Chem. 1993. PMID: 8325895 Free article.

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