|
Wenstrup, R J; Lever, L W; Phillips, C L et al. (1993) Mutations in the COL1A2 gene of type I collagen that result in nonlethal forms of osteogenesis imperfecta. Am J Med Genet 45:228-32
|
|
Quarles, L D; Yohay, D A; Lever, L W et al. (1992) Distinct proliferative and differentiated stages of murine MC3T3-E1 cells in culture: an in vitro model of osteoblast development. J Bone Miner Res 7:683-92
|
|
Edwards, M J; Wenstrup, R J; Byers, P H et al. (1992) Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a mutation in the COL1A2 gene of type I collagen. The mosaic parent exhibits phenotypic features of a mild form of the disease. Hum Mutat 1:47-54
|
|
Phillips, C L; Morgan, A L; Lever, L W et al. (1992) Sequence analysis of a full-length cDNA for the murine pro alpha 2(I) collagen chain: comparison of the derived primary structure with human pro alpha 2(I) collagen. Genomics 13:1345-6
|
|
Phillips, C L; Lever, L W; Pinnell, S R et al. (1991) Construction of a full-length murine pro alpha 2(I) collagen cDNA by the polymerase chain reaction. J Invest Dermatol 97:980-4
|
|
Wenstrup, R J; Shrago-Howe, A W; Lever, L W et al. (1991) The effects of different cysteine for glycine substitutions within alpha 2(I) chains. Evidence of distinct structural domains within the type I collagen triple helix. J Biol Chem 266:2590-4
|
|
Quarles, L D; Wenstrup, R J; Castillo, S A et al. (1991) Aluminum-induced mitogenesis in MC3T3-E1 osteoblasts: potential mechanism underlying neoosteogenesis. Endocrinology 128:3144-51
|
|
Phillips, C L; Shrago-Howe, A W; Pinnell, S R et al. (1990) A substitution at a non-glycine position in the triple-helical domain of pro alpha 2(I) collagen chains present in an individual with a variant of the Marfan syndrome. J Clin Invest 86:1723-8
|
|
Wenstrup, R J; Willing, M C; Starman, B J et al. (1990) Distinct biochemical phenotypes predict clinical severity in nonlethal variants of osteogenesis imperfecta. Am J Hum Genet 46:975-82
|
|
Wenstrup, R J; Cohn, D H; Cohen, T et al. (1988) Arginine for glycine substitution in the triple-helical domain of the products of one alpha 2(I) collagen allele (COL1A2) produces the osteogenesis imperfecta type IV phenotype. J Biol Chem 263:7734-40
|
