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TypeTitleAuthor(s)YearViews
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
Publisher:
Oxford University Press. The Journal's web site is located at http://hmg.oxfordjournals.org/
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, D2007195
 
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
Publisher:
BMJ Group. The Journal's web site is located at http://jmg.bmj.com/
Cole, WG; Chan, D; Chow, CW; Rogers, JG; Bateman, JF1996162
 
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
Publisher:
American Society for Biochemistry and Molecular Biology, Inc. The Journal's web site is located at http://www.jbc.org/
Mundlos, S; Chan, D; Weng, YM; Sillence, DO; Cole, WG; Bateman, JF1996160
 
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
Publisher:
American Society for Biochemistry and Molecular Biology, Inc. The Journal's web site is located at http://www.jbc.org/
Chan, D; Cole, WG; Chow, CW; Mundlos, S; Bateman, JF1995131
 
Recurrent substitutions of arginine 789 by cysteine in pro-α1 (II) collagen chains produce spondyloepiphyseal dysplasia congenita
Proceedings/Conference:
Journal of Rheumatology
Publisher:
Journal of Rheumatology Publishing Co Ltd. The Journal's web site is located at http://www.jrheum.com
Chan, D; Rogers, JF; Bateman, JF; Cole, WG1995108
 
Type X collagen multimer assembly in vitro is prevented by a Gly618 to Val mutation in the α1(X) NC1 domain resulting in Schmid metaphyseal chondrodysplasia
Journal:
Journal of Biological Chemistry
Publisher:
American Society for Biochemistry and Molecular Biology, Inc. The Journal's web site is located at http://www.jbc.org/
Chan, D; Cole, WG; Rogers, JG; Bateman, JF1995152
 
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
Publisher:
American Society for Biochemistry and Molecular Biology, Inc. The Journal's web site is located at http://www.jbc.org/
Lamande, SR; Chessler, SD; Golub, SB; Byers, PH; Chan, D; Cole, WG; Sillence, DO; Bateman, JF1995172
 
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
Publisher:
Portland Press Ltd. The Journal's web site is located at http://www.biochemj.org
Bateman, JF; Chan, D; Moeller, I; Hannagan, M; Cole, WG1994165
 
Characterization of an arginine 789 to cysteine substitution in α1 (II) collagen chains of a patient with spondyloepiphyseal dysplasia
Journal:
Journal of Biological Chemistry
Publisher:
American Society for Biochemistry and Molecular Biology, Inc. The Journal's web site is located at http://www.jbc.org/
Chan, D; Taylor, TKF; Cole, WG1993157
 
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
Publisher:
John Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/38515
Bateman, JF; Moeller, I; Hannagan, M; Chan, D; Cole, WG1992176
 
Characterization of three osteogenesis imperfecta collagen α1(I) glycine to serine mutations demonstrating a position-dependent gradient of phenotypic severity
Journal:
Biochemical Journal
Publisher:
Portland Press Ltd. The Journal's web site is located at http://www.biochemj.org
Bateman, JF; Moeller, I; Hannagan, M; Chan, D; Cole, WG1992187
 
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
Publisher:
Portland Press Ltd. The Journal's web site is located at http://www.biochemj.org
Bateman, JF; Hannagan, M; Chan, D; Cole, WG1991105
 
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
Publisher:
American Society for Biochemistry and Molecular Biology, Inc. The Journal's web site is located at http://www.jbc.org/
Chan, D; Cole, WG1991101
 
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
Publisher:
American Society for Biochemistry and Molecular Biology, Inc. The Journal's web site is located at http://www.jbc.org/
Cole, WG; Chiodo, AA; Lamande, SR; Janeczko, R; Ramirez, F; Dahl, HHM; Chan, D; Bateman, JF1990188
 
Marfan syndrome: Absence of type I or III collagen structural defects in 25 patients
Journal:
Journal of Inherited Metabolic Disease
Publisher:
Springer Verlag Dordrecht. The Journal's web site is located at http://springerlink.metapress.com/openurl.asp?genre=journal&issn=0141-8955
Harley, VR; Chan, D; Rogers, JG; Cole, WG1990226
 
Regulation of procollagen synthesis and processing during ascorbate-induced extracellular matrix accumulation in vitro
Journal:
Biochemical Journal
Publisher:
Portland Press Ltd. The Journal's web site is located at http://www.biochemj.org
Chan, D; Lamande, SR; Cole, WG; Bateman, JF1990114
 
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
Publisher:
American Society for Biochemistry and Molecular Biology, Inc. The Journal's web site is located at http://www.jbc.org/
Bateman, JF; Lamande, SR; Dahl, HHM; Chan, D; Mascara, T; Cole, WG1989138
 
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
Publisher:
Nature Publishing Group. The Journal's web site is located at http://www.nature.com/emboj/index.html
Weil, D; D'alessio, M; Ramirez, F; De Wet, W; Cole, WG; Chan, D; Bateman, JF1989163
 
Changes in collagen stability and folding in lethal perinatal osteogenesis imperfecta. The effect of α1(I)-chain glycine-to-arginine substitutions
Journal:
Biochemical Journal
Publisher:
Portland Press Ltd. The Journal's web site is located at http://www.biochemj.org
Baker, AT; Ramshaw, RAM; Chan, D; Cole, WG; Bateman, JF1989127
 
Substitution of arginine for glycine 664 in the collagen α1(I) chain in lethal perinatal osteogenesis imperfecta. Demonstration of the peptide defect by in vitro expression of the mutant cDNA
Journal:
Journal of Biological Chemistry
Publisher:
American Society for Biochemistry and Molecular Biology, Inc. The Journal's web site is located at http://www.jbc.org/
Bateman, JF; Lamande, SR; Dahl, HHM; Chan, D; Cole, WG1988159
 
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