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Browsing by Author Cole, WG
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Showing results 7 to 26 of 31
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Title
Author(s)
Issue Date
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
Marfan syndrome: Absence of type I or III collagen structural defects in 25 patients
Journal:
Journal of Inherited Metabolic Disease
Harley, VR
Chan, D
Rogers, JG
Cole, WG
1990
Multiexon deletions in the type I collagen COL1A2 gene in osteogenesis imperfecta type IB. Molecules containing the shortened α2(I) chains show differential incorporation into the bone and skin extracellular matrix
Journal:
Journal of Biological Chemistry
Mundlos, S
Chan, D
Weng, YM
Sillence, DO
Cole, WG
Bateman, JF
1996
Peptide analysis of collagen produced from cDNA by transcription and translation in vitro.
Journal:
Biochemical Journal
Bateman, JF
Lamande, S
Chan, D
Cole, WG
1987
Quantitation of type I and III collagens using electrophoresis of alpha chains and cyanogen bromide peptides
Journal:
Analytical Biochemistry
Chan, D
Cole, WG
1984
Rapid fractionation of collagen chains and peptides by high-performance liquid chromatography
Journal:
Analytical Biochemistry
Bateman, JF
Mascara, T
Chan, D
Cole, WG
1986
Recurrent substitutions of arginine 789 by cysteine in pro-α1 (II) collagen chains produce spondyloepiphyseal dysplasia congenita
Proceeding/Conference:
Journal of Rheumatology
Chan, D
Rogers, JF
Bateman, JF
Cole, WG
1995