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Browsing by Author Cole, WG
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Showing results 1 to 20 of 31
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Title
Author(s)
Issue Date
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 proα1(I) chains with a non-collagenous insertion destabilizing the triple helix
Journal:
Biochemical Journal
Bateman, JF
Chan, D
Moeller, I
Hannagan, M
Cole, WG
1994
Abnormal type I collagen metabolism by cultured fibroblasts in lethal perinatal osteogenesis imperfecta
Journal:
Biochemical Journal
Bateman, JF
Mascara, T
Chan, D
Cole, WG
1984
Analysis of the heterogeneity of human collagens by two-dimensional polyacrylamide-gel electrophoresis
Journal:
Biochemical Journal
Cole, WG
Chan, D
1981
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
Journal:
Journal of Biological Chemistry
Cole, WG
Chiodo, AA
Lamande, SR
Janeczko, R
Ramirez, F
Dahl, HHM
Chan, D
Bateman, JF
1990
A base substitution in the exon of a collagen gene causes alternative splicing and generates a structurally abnormal polypeptide in a patient with Ehlers-Danlos Syndrome Type VII
Journal:
EMBO Journal
Weil, D
D'alessio, M
Ramirez, F
De Wet, W
Cole, WG
Chan, D
Bateman, JF
1989
Biochemical heterogeneity of type I collagen mutations in osteogenesis imperfecta.
Journal:
Annals of the New York Academy of Sciences
Bateman, JF
Chan, D
Lamande, S
Mascara, T
Cole, WG
1988
Changes in collagen stability and folding in lethal perinatal osteogenesis imperfecta. The effect of α1(I)-chain glycine-to-arginine substitutions
Journal:
Biochemical Journal
Baker, AT
Ramshaw, RAM
Chan, D
Cole, WG
Bateman, JF
1989
Characterization of a type I collagen α2(I) glycine-586 to valine substitution in osteogenesis imperfecta type IV. Detection of the mutation and prenatal diagnosis by a chemical cleavage method
Journal:
Biochemical Journal
Bateman, JF
Hannagan, M
Chan, D
Cole, WG
1991
Characterization of an arginine 789 to cysteine substitution in α1 (II) collagen chains of a patient with spondyloepiphyseal dysplasia
Journal:
Journal of Biological Chemistry
Chan, D
Taylor, TKF
Cole, WG
1993
Characterization of three osteogenesis imperfecta collagen α1(I) glycine to serine mutations demonstrating a position-dependent gradient of phenotypic severity
Journal:
Biochemical Journal
Bateman, JF
Moeller, I
Hannagan, M
Chan, D
Cole, WG
1992
COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid
Journal:
Human Molecular Genetics
Ho, MSP
Tsang, KY
Lo, RLK
Susic, M
Mäkitie, O
Chan, TWY
Ng, VCW
Sillence, DO
BootHandford, RP
Gibson, G
Cheung, KMC
Cole, WG
Cheah, KSE
Chan, D
2007
A COL2A1 mutation in achondrogenesis type II results in the replacement of type II collagen by type I and III collagens in cartilage
Journal:
Journal of Biological Chemistry
Chan, D
Cole, WG
Chow, CW
Mundlos, S
Bateman, JF
1995
Collagen composition of normal and myxomatous human mitral heart valves
Journal:
Biochemical Journal
Cole, WG
Chan, D
Hickey, AJ
Wilcken, DEL
1984
Comprehensive analysis of collagen metabolism in vitro using [43H]/[14C]proline dual-labeling and polyacrylamide gel electrophoresis
Journal:
Analytical Biochemistry
Bateman, JF
Harley, V
Chan, D
Cole, WG
1988
Deletion of 24 amino acids from the Pro-α1(I) chain of type I procollagen in a patient with the Ehlers-Danlos syndrome type VII
Journal:
Journal of Biological Chemistry
Cole, WG
Chan, D
Chambers, GW
1986
Disrupted growth plates and progressive deformities in osteogenesis imperfecta as a result of the substitution of glycine 585 by valine in the α2(I) chain of type I collagen
Journal:
Journal of Medical Genetics
Cole, WG
Chan, D
Chow, CW
Rogers, JG
Bateman, JF
1996
Endoplasmic reticulum-mediated quality control of type I collagen production by cells from osteogenesis imperfecta patients with mutations in the proα1(I) chain carboxyl-terminal propeptide which impair subunit assembly
Journal:
Journal of Biological Chemistry
Lamande, SR
Chessler, SD
Golub, SB
Byers, PH
Chan, D
Cole, WG
Sillence, DO
Bateman, JF
1995
A frameshift mutation results in a truncated nonfunctional carboxyl-terminal Proα1(I) propeptide of type I collagen in osteogenesis imperfecta
Journal:
Journal of Biological Chemistry
Bateman, JF
Lamande, SR
Dahl, HHM
Chan, D
Mascara, T
Cole, WG
1989
Lethal perinatal osteogenesis imperfecta due to a type I collagen α2(I) gly to arg substitution detected by chemical cleavage of an mRNA:cDNA sequence mismatch
Journal:
Human Mutation
Bateman, JF
Moeller, I
Hannagan, M
Chan, D
Cole, WG
1992
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 α1(II) collagen chains of a patient with spondyloepiphyseal dysplasia
Journal:
Journal of Biological Chemistry
Chan, D
Cole, WG
1991