Byers PH - Search Results

1

Substitutions of aspartic acid for glycine-220 and of arginine for glycine-664 in the triple helix of the pro alpha 1(I) chain of type I procollagen produce lethal osteogenesis imperfecta and disrupt the ability of collagen fibrils to incorporate crystalline hydroxyapatite.

Culbert AA, Lowe MP, Atkinson M, Byers PH, Wallis GA, Kadler KE. Culbert AA, et al. Among authors: byers ph. Biochem J. 1995 Nov 1;311 ( Pt 3)(Pt 3):815-20. doi: 10.1042/bj3110815. Biochem J. 1995. PMID: 7487936 Free PMC article.

2

Substitution of serine for glycine 883 in the triple helix of the pro alpha 1 (I) chain of type I procollagen produces osteogenesis imperfecta type IV and introduces a structural change in the triple helix that does not alter cleavage of the molecule by procollagen N-proteinase.

Lightfoot SJ, Atkinson MS, Murphy G, Byers PH, Kadler KE. Lightfoot SJ, et al. Among authors: byers ph. J Biol Chem. 1994 Dec 2;269(48):30352-7. J Biol Chem. 1994. PMID: 7982948 Free article.

3

Type I procollagens containing substitutions of aspartate, arginine, and cysteine for glycine in the pro alpha 1 (I) chain are cleaved slowly by N-proteinase, but only the cysteine substitution introduces a kink in the molecule.

Lightfoot SJ, Holmes DF, Brass A, Grant ME, Byers PH, Kadler KE. Lightfoot SJ, et al. Among authors: byers ph. J Biol Chem. 1992 Dec 15;267(35):25521-8. J Biol Chem. 1992. PMID: 1460046 Free article.

4

Substitution of arginine for glycine at position 847 in the triple-helical domain of the alpha 1 (I) chain of type I collagen produces lethal osteogenesis imperfecta. Molecules that contain one or two abnormal chains differ in stability and secretion.

Wallis GA, Starman BJ, Schwartz MF, Byers PH. Wallis GA, et al. Among authors: byers ph. J Biol Chem. 1990 Oct 25;265(30):18628-33. J Biol Chem. 1990. PMID: 2211725 Free article.

5

Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the alpha 1(I) gene (COL1A1) of type I collagen in a parent.

Wallis GA, Starman BJ, Zinn AB, Byers PH. Wallis GA, et al. Among authors: byers ph. Am J Hum Genet. 1990 Jun;46(6):1034-40. Am J Hum Genet. 1990. PMID: 2339700 Free PMC article.

6

Osteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible.

Wallis GA, Sykes B, Byers PH, Mathew CG, Viljoen D, Beighton P. Wallis GA, et al. Among authors: byers ph. J Med Genet. 1993 Jun;30(6):492-6. doi: 10.1136/jmg.30.6.492. J Med Genet. 1993. PMID: 8100856 Free PMC article.

7

Mutations in the carboxyl-terminal propeptide of the pro alpha 1(I) chain of type I collagen result in defective chain association and produce lethal osteogenesis imperfecta.

Chessler SD, Wallis GA, Byers PH. Chessler SD, et al. Among authors: byers ph. J Biol Chem. 1993 Aug 25;268(24):18218-25. J Biol Chem. 1993. PMID: 8349697 Free article.

8

Deletions and duplications of Gly-Xaa-Yaa triplet repeats in the triple helical domains of type I collagen chains disrupt helix formation and result in several types of osteogenesis imperfecta.

Pace JM, Atkinson M, Willing MC, Wallis G, Byers PH. Pace JM, et al. Among authors: byers ph. Hum Mutat. 2001 Oct;18(4):319-26. doi: 10.1002/humu.1193. Hum Mutat. 2001. PMID: 11668615

9

A tripeptide deletion in the triple-helical domain of the pro alpha 1(I) chain of type I procollagen in a patient with lethal osteogenesis imperfecta does not alter cleavage of the molecule by N-proteinase.

Wallis GA, Kadler KE, Starman BJ, Byers PH. Wallis GA, et al. Among authors: byers ph. J Biol Chem. 1992 Dec 15;267(35):25529-34. J Biol Chem. 1992. PMID: 1460047 Free article.

10

Ehlers Danlos syndrome type VIIB. Incomplete cleavage of abnormal type I procollagen by N-proteinase in vitro results in the formation of copolymers of collagen and partially cleaved pNcollagen that are near circular in cross-section.

Watson RB, Wallis GA, Holmes DF, Viljoen D, Byers PH, Kadler KE. Watson RB, et al. Among authors: byers ph. J Biol Chem. 1992 May 5;267(13):9093-100. J Biol Chem. 1992. PMID: 1577745 Free article.

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