Results 1 to 20 of 31
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COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type SchmidHo, 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, D2007120
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 matrixMundlos, S; Chan, D; Weng, YM; Sillence, DO; Cole, WG; Bateman, JF199683
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 collagenCole, WG; Chan, D; Chow, CW; Rogers, JG; Bateman, JF199697
Recurrent substitutions of arginine 789 by cysteine in pro-α1 (II) collagen chains produce spondyloepiphyseal dysplasia congenitaChan, D; Rogers, JF; Bateman, JF; Cole, WG199562
A COL2A1 mutation in achondrogenesis type II results in the replacement of type II collagen by type I and III collagens in cartilageChan, D; Cole, WG; Chow, CW; Mundlos, S; Bateman, JF199574
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 assemblyLamande, SR; Chessler, SD; Golub, SB; Byers, PH; Chan, D; Cole, WG; Sillence, DO; Bateman, JF199582
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 chondrodysplasiaChan, D; Cole, WG; Rogers, JG; Bateman, JF199577
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 helixBateman, JF; Chan, D; Moeller, I; Hannagan, M; Cole, WG199495
Characterization of an arginine 789 to cysteine substitution in α1 (II) collagen chains of a patient with spondyloepiphyseal dysplasiaChan, D; Taylor, TKF; Cole, WG199386
Characterization of three osteogenesis imperfecta collagen α1(I) glycine to serine mutations demonstrating a position-dependent gradient of phenotypic severityBateman, JF; Moeller, I; Hannagan, M; Chan, D; Cole, WG1992101
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 mismatchBateman, JF; Moeller, I; Hannagan, M; Chan, D; Cole, WG1992106
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 methodBateman, JF; Hannagan, M; Chan, D; Cole, WG199168
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 dysplasiaChan, D; Cole, WG199160
Marfan syndrome: Absence of type I or III collagen structural defects in 25 patientsHarley, VR; Chan, D; Rogers, JG; Cole, WG1990139
Regulation of procollagen synthesis and processing during ascorbate-induced extracellular matrix accumulation in vitroChan, D; Lamande, SR; Cole, WG; Bateman, JF199071
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 IVCole, WG; Chiodo, AA; Lamande, SR; Janeczko, R; Ramirez, F; Dahl, HHM; Chan, D; Bateman, JF199092
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 VIIWeil, D; D'alessio, M; Ramirez, F; De Wet, W; Cole, WG; Chan, D; Bateman, JF198998
Changes in collagen stability and folding in lethal perinatal osteogenesis imperfecta. The effect of α1(I)-chain glycine-to-arginine substitutionsBaker, AT; Ramshaw, RAM; Chan, D; Cole, WG; Bateman, JF198970
A frameshift mutation results in a truncated nonfunctional carboxyl-terminal Proα1(I) propeptide of type I collagen in osteogenesis imperfectaBateman, JF; Lamande, SR; Dahl, HHM; Chan, D; Mascara, T; Cole, WG198975
Comprehensive analysis of collagen metabolism in vitro using [43H]/[14C]proline dual-labeling and polyacrylamide gel electrophoresisBateman, JF; Harley, V; Chan, D; Cole, WG1988115
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