Boot-Handford RP - Search Results

1

Amino acid substitutions of conserved residues in the carboxyl-terminal domain of the alpha 1(X) chain of type X collagen occur in two unrelated families with metaphyseal chondrodysplasia type Schmid.

Wallis GA, Rash B, Sweetman WA, Thomas JT, Super M, Evans G, Grant ME, Boot-Handford RP. Wallis GA, et al. Am J Hum Genet. 1994 Feb;54(2):169-78. Am J Hum Genet. 1994. PMID: 8304336 Free PMC article.

2

The fibrillar collagens, collagen VIII, collagen X and the C1q complement proteins share a similar domain in their C-terminal non-collagenous regions.

Brass A, Kadler KE, Thomas JT, Grant ME, Boot-Handford RP. Brass A, et al. FEBS Lett. 1992 Jun 1;303(2-3):126-8. doi: 10.1016/0014-5793(92)80503-9. FEBS Lett. 1992. PMID: 1607009 Free article.

3

Sequence comparison of three mammalian type-X collagen promoters and preliminary functional analysis of the human promoter.

Thomas JT, Sweetman WA, Cresswell CJ, Wallis GA, Grant ME, Boot-Handford RP. Thomas JT, et al. Gene. 1995 Jul 28;160(2):291-6. doi: 10.1016/0378-1119(95)00189-d. Gene. 1995. PMID: 7642113

4

Mutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia.

Wallis GA, Rash B, Sykes B, Bonaventure J, Maroteaux P, Zabel B, Wynne-Davies R, Grant ME, Boot-Handford RP. Wallis GA, et al. J Med Genet. 1996 Jun;33(6):450-7. doi: 10.1136/jmg.33.6.450. J Med Genet. 1996. PMID: 8782043 Free PMC article.

5

Metaphyseal chondrodysplasia type Schmid mutations are predicted to occur in two distinct three-dimensional clusters within type X collagen NC1 domains that retain the ability to trimerize.

Marks DS, Gregory CA, Wallis GA, Brass A, Kadler KE, Boot-Handford RP. Marks DS, et al. J Biol Chem. 1999 Feb 5;274(6):3632-41. doi: 10.1074/jbc.274.6.3632. J Biol Chem. 1999. PMID: 9920912 Free article.

6

SSCP and segregation analysis of the human type X collagen gene (COL10A1) in heritable forms of chondrodysplasia.

Sweetman WA, Rash B, Sykes B, Beighton P, Hecht JT, Zabel B, Thomas JT, Boot-Handford R, Grant ME, Wallis GA. Sweetman WA, et al. Am J Hum Genet. 1992 Oct;51(4):841-9. Am J Hum Genet. 1992. PMID: 1329505 Free PMC article.

7

Seven polymorphisms at the COL10A1 locus.

Rash B, Sweetman W, Sykes B, Thomas T, Grant M, Boot-Handford R, Wallis G. Rash B, et al. Hum Mol Genet. 1994 Jun;3(6):1032. doi: 10.1093/hmg/3.6.1032. Hum Mol Genet. 1994. PMID: 7951225 No abstract available.

8

An enhancer complex confers both high-level and cell-specific expression of the human type X collagen gene.

Chambers D, Young DA, Howard C, Thomas JT, Boam DS, Grant ME, Wallis GA, Boot-Handford RP. Chambers D, et al. FEBS Lett. 2002 Nov 20;531(3):505-8. doi: 10.1016/s0014-5793(02)03606-2. FEBS Lett. 2002. PMID: 12435601 Free article.

9

Isolation of cDNAs encoding the complete sequence of bovine type X collagen. Evidence for the condensed nature of mammalian type X collagen genes.

Thomas JT, Kwan AP, Grant ME, Boot-Handford RP. Thomas JT, et al. Biochem J. 1991 Jan 1;273(Pt 1)(Pt 1):141-8. doi: 10.1042/bj2730141. Biochem J. 1991. PMID: 1703407 Free PMC article.

10

The human collagen X gene. Complete primary translated sequence and chromosomal localization.

Thomas JT, Cresswell CJ, Rash B, Nicolai H, Jones T, Solomon E, Grant ME, Boot-Handford RP. Thomas JT, et al. Biochem J. 1991 Dec 15;280 ( Pt 3)(Pt 3):617-23. doi: 10.1042/bj2800617. Biochem J. 1991. PMID: 1764025 Free PMC article.

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