Sillence DO - Search Results

1

COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid.

Ho MS, Tsang KY, Lo RL, Susic M, Mäkitie O, Chan TW, Ng VC, Sillence DO, Boot-Handford RP, Gibson G, Cheung KM, Cole WG, Cheah KS, Chan D. Ho MS, et al. Among authors: sillence do. Hum Mol Genet. 2007 May 15;16(10):1201-15. doi: 10.1093/hmg/ddm067. Epub 2007 Apr 2. Hum Mol Genet. 2007. PMID: 17403716

2

Abnormal compartmentalization of cartilage matrix components in mice lacking collagen X: implications for function.

Kwan KM, Pang MK, Zhou S, Cowan SK, Kong RY, Pfordte T, Olsen BR, Sillence DO, Tam PP, Cheah KS. Kwan KM, et al. Among authors: sillence do. J Cell Biol. 1997 Jan 27;136(2):459-71. doi: 10.1083/jcb.136.2.459. J Cell Biol. 1997. PMID: 9015315 Free PMC article.

3

A nonsense mutation in the carboxyl-terminal domain of type X collagen causes haploinsufficiency in schmid metaphyseal chondrodysplasia.

Chan D, Weng YM, Graham HK, Sillence DO, Bateman JF. Chan D, et al. Among authors: sillence do. J Clin Invest. 1998 Apr 1;101(7):1490-9. doi: 10.1172/JCI1976. J Clin Invest. 1998. PMID: 9525992 Free PMC article.

4

Ehlers-Danlos syndrome type IV: phenotypic consequences of a splicing mutation in one COL3A1 allele.

Sillence DO, Chiodo AA, Campbell PE, Cole WG. Sillence DO, et al. J Med Genet. 1991 Dec;28(12):840-5. doi: 10.1136/jmg.28.12.840. J Med Genet. 1991. PMID: 1757960 Free PMC article.

5

The phenotypic features of osteogenesis imperfecta resulting from a mutation of the carboxyl-terminal pro alpha 1 (I) propeptide that impairs the assembly of type I procollagen and formation of the extracellular matrix.

Cole WG, Chow CW, Bateman JF, Sillence DO. Cole WG, et al. Among authors: sillence do. J Med Genet. 1996 Nov;33(11):965-7. doi: 10.1136/jmg.33.11.965. J Med Genet. 1996. PMID: 8950680 Free PMC article.

6

The clinical features of Ehlers-Danlos syndrome type VII due to a deletion of 24 amino acids from the pro alpha 1(I) chain of type I procollagen.

Cole WG, Evans R, Sillence DO. Cole WG, et al. Among authors: sillence do. J Med Genet. 1987 Nov;24(11):698-701. doi: 10.1136/jmg.24.11.698. J Med Genet. 1987. PMID: 3430546 Free PMC article.

7

Multiexon deletions in the type I collagen COL1A2 gene in osteogenesis imperfecta type IB. Molecules containing the shortened alpha2(I) chains show differential incorporation into the bone and skin extracellular matrix.

Mundlos S, Chan D, Weng YM, Sillence DO, Cole WG, Bateman JF. Mundlos S, et al. Among authors: sillence do. J Biol Chem. 1996 Aug 30;271(35):21068-74. doi: 10.1074/jbc.271.35.21068. J Biol Chem. 1996. PMID: 8702873 Free article.

8

Abnormal type III collagen produced by an exon-17-skipping mutation of the COL3A1 gene in Ehlers-Danlos syndrome type IV is not incorporated into the extracellular matrix.

Chiodo AA, Sillence DO, Cole WG, Bateman JF. Chiodo AA, et al. Among authors: sillence do. Biochem J. 1995 Nov 1;311 ( Pt 3)(Pt 3):939-43. doi: 10.1042/bj3110939. Biochem J. 1995. PMID: 7487954 Free PMC article.

9

Endoplasmic reticulum-mediated quality control of type I collagen production by cells from osteogenesis imperfecta patients with mutations in the pro alpha 1 (I) chain carboxyl-terminal propeptide which impair subunit assembly.

Lamandé SR, Chessler SD, Golub SB, Byers PH, Chan D, Cole WG, Sillence DO, Bateman JF. Lamandé SR, et al. Among authors: sillence do. J Biol Chem. 1995 Apr 14;270(15):8642-9. doi: 10.1074/jbc.270.15.8642. J Biol Chem. 1995. PMID: 7721766 Free article.

10

A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders.

Gensure RC, Mäkitie O, Barclay C, Chan C, Depalma SR, Bastepe M, Abuzahra H, Couper R, Mundlos S, Sillence D, Ala Kokko L, Seidman JG, Cole WG, Jüppner H. Gensure RC, et al. J Clin Invest. 2005 May;115(5):1250-7. doi: 10.1172/JCI22760. J Clin Invest. 2005. PMID: 15864348 Free PMC article.

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