Chan D - Search Results

1

Characterization of a type I collagen alpha 2(I) glycine-586 to valine substitution in osteogenesis imperfecta type IV. Detection of the mutation and prenatal diagnosis by a chemical cleavage method.

Bateman JF, Hannagan M, Chan D, Cole WG. Bateman JF, et al. Among authors: chan d. Biochem J. 1991 Jun 15;276 ( Pt 3)(Pt 3):765-70. doi: 10.1042/bj2760765. Biochem J. 1991. PMID: 2064612 Free PMC article.

2

Lethal perinatal osteogenesis imperfecta due to a type I collagen alpha 2(I) Gly to Arg substitution detected by chemical cleavage of an mRNA:cDNA sequence mismatch.

Bateman JF, Moeller I, Hannagan M, Chan D, Cole WG. Bateman JF, et al. Among authors: chan d. Hum Mutat. 1992;1(1):55-62. doi: 10.1002/humu.1380010109. Hum Mutat. 1992. PMID: 1284475

3

Characterization of three osteogenesis imperfecta collagen alpha 1(I) glycine to serine mutations demonstrating a position-dependent gradient of phenotypic severity.

Bateman JF, Moeller I, Hannagan M, Chan D, Cole WG. Bateman JF, et al. Among authors: chan d. Biochem J. 1992 Nov 15;288 ( Pt 1)(Pt 1):131-5. doi: 10.1042/bj2880131. Biochem J. 1992. PMID: 1445258 Free PMC article.

4

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 alpha 1(II) collagen chains of a patient with spondyloepiphyseal dysplasia.

Chan D, Cole WG. Chan D, et al. J Biol Chem. 1991 Jul 5;266(19):12487-94. J Biol Chem. 1991. PMID: 1905723 Free article.

5

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.

Cole WG, Chiodo AA, Lamande SR, Janeczko R, Ramirez F, Dahl HH, Chan D, Bateman JF. Cole WG, et al. Among authors: chan d. J Biol Chem. 1990 Oct 5;265(28):17070-7. J Biol Chem. 1990. PMID: 2145268 Free article.

6

Regulation of procollagen synthesis and processing during ascorbate-induced extracellular matrix accumulation in vitro.

Chan D, Lamande SR, Cole WG, Bateman JF. Chan D, et al. Biochem J. 1990 Jul 1;269(1):175-81. doi: 10.1042/bj2690175. Biochem J. 1990. PMID: 2375750 Free PMC article.

7

A frameshift mutation results in a truncated nonfunctional carboxyl-terminal pro alpha 1(I) propeptide of type I collagen in osteogenesis imperfecta.

Bateman JF, Lamande SR, Dahl HH, Chan D, Mascara T, Cole WG. Bateman JF, et al. Among authors: chan d. J Biol Chem. 1989 Jul 5;264(19):10960-4. J Biol Chem. 1989. PMID: 2500431 Free article.

Only normal type I collagen was incorporated into the extracellular matrix in vivo resulting in a tissue type I collagen content approximately 20% of that of control (Bateman, J. F., Chan, D., Mascara, T., Rogers, J. G., and Cole, W. G. (1986) Biochem. ...

Only normal type I collagen was incorporated into the extracellular matrix in vivo resulting in a tissue type I collagen content approximate …

8

Correlation of clinical and molecular biological abnormalities in osteogenesis imperfecta.

Cole W, Chan D, Lamande S, Mascara T, Rogers J, Bateman J. Cole W, et al. Among authors: chan d. Connect Tissue Res. 1989;21(1-4):91-5; discussion 95-7. doi: 10.3109/03008208909049999. Connect Tissue Res. 1989. PMID: 2605955

9

Changes in collagen stability and folding in lethal perinatal osteogenesis imperfecta. The effect of alpha 1 (I)-chain glycine-to-arginine substitutions.

Baker AT, Ramshaw JA, Chan D, Cole WG, Bateman JF. Baker AT, et al. Among authors: chan d. Biochem J. 1989 Jul 1;261(1):253-7. doi: 10.1042/bj2610253. Biochem J. 1989. PMID: 2775212 Free PMC article.

10

Biochemical heterogeneity of type I collagen mutations in osteogenesis imperfecta.

Bateman JF, Chan D, Lamande S, Mascara T, Cole WG. Bateman JF, et al. Among authors: chan d. Ann N Y Acad Sci. 1988;543:95-105. doi: 10.1111/j.1749-6632.1988.tb55321.x. Ann N Y Acad Sci. 1988. PMID: 3214058 No abstract available.

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