HKU Scholars Hub: Browsing DSpace

Browsing by Author Cole, WG

Jump to: 0-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 中

or enter first few letters:

Showing results 4 to 23 of 31 < previous next >

Title	Author(s)	Issue Date	Views
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	157
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	192
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	100
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	231
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	107
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	126
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	123
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	208
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	120
Collagen composition of normal and myxomatous human mitral heart valves Journal:Biochemical Journal	Cole, WG Chan, D Hickey, AJ Wilcken, DEL	1984	150
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	145
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	109
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	134
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	163
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	148
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	144
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	139
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	172
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	97
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	134

Showing results 4 to 23 of 31 < previous next >