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The molecular defect in a nonlethal variant of osteogenesis imperfecta. Synthesis of pro-alpha 2(I) chains which are not incorporated into trimers of type I procollagen.
Deak SB, Nicholls A, Pope FM, Prockop DJ. Deak SB, et al. Among authors: nicholls a. J Biol Chem. 1983 Dec 25;258(24):15192-7. J Biol Chem. 1983. PMID: 6418743 Free article.
Cultured fibroblasts were examined from a patient with a nonlethal form of osteogenesis imperfecta. As reported previously (Nicholls, A. ...One possible explanation for the high ratio is that the proband is homozygous for a mutation altering the …
Cultured fibroblasts were examined from a patient with a nonlethal form of osteogenesis imperfecta. As reported previously ( …
Substitution of cysteine for glycine within the carboxyl-terminal telopeptide of the alpha 1 chain of type I collagen produces mild osteogenesis imperfecta.
Cohn DH, Apone S, Eyre DR, Starman BJ, Andreassen P, Charbonneau H, Nicholls AC, Pope FM, Byers PH. Cohn DH, et al. Among authors: nicholls ac. J Biol Chem. 1988 Oct 15;263(29):14605-7. J Biol Chem. 1988. PMID: 3170557 Free article.
Half of the alpha 1 (I) chains of type I collagen synthesized by cells from an affected individual contain a cysteine residue in the 196-residue carboxyl-terminal cyanogen bromide peptide of the triple-helical domain (Steinmann, B., Nicholls, A., and Pope, F. …
Half of the alpha 1 (I) chains of type I collagen synthesized by cells from an affected individual contain a cysteine residue in the …
Heterogeneity of osteogenesis imperfecta.
Pope FM, Nicholls AC. Pope FM, et al. Among authors: nicholls ac. Lancet. 1978 Jun 10;1(8076):1265-6. doi: 10.1016/s0140-6736(78)92505-9. Lancet. 1978. PMID: 78031 No abstract available.
Collagen genes and proteins in osteogenesis imperfecta.
Pope FM, Nicholls AC, McPheat J, Talmud P, Owen R. Pope FM, et al. Among authors: nicholls ac. J Med Genet. 1985 Dec;22(6):466-78. doi: 10.1136/jmg.22.6.466. J Med Genet. 1985. PMID: 3001313 Free PMC article.
A cysteine for glycine substitution at position 1017 in an alpha 1(I) chain of type I collagen in a patient with mild dominantly inherited osteogenesis imperfecta.
Labhard ME, Wirtz MK, Pope FM, Nicholls AC, Hollister DW. Labhard ME, et al. Among authors: nicholls ac. Mol Biol Med. 1988 Dec;5(3):197-207. Mol Biol Med. 1988. PMID: 3244312
We report here molecular studies on a patient with the mild, dominantly inherited, variety of OI (OI type I) previously shown (Nicholls et al., 1984) to be heterozygous for an abnormal alpha 1(I) chain of type I collagen which contained cysteine near the carboxyl te …
We report here molecular studies on a patient with the mild, dominantly inherited, variety of OI (OI type I) previously shown (Nic …
507 results