Project Start
1986-04-01
Project End
1989-08-31
Budget Start
1986-04-01
Budget End
1986-08-31
Support Year
1
Fiscal Year
1985
Total Cost
Indirect Cost
Name
Thomas Jefferson University
Department
Type
Schools of Medicine
DUNS #
061197161
City
Philadelphia
State
PA
Country
United States
Zip Code
19107
Yuan, C M; Ala-Kokko, L; Le Guellec, D et al. (2000) Lack of a phenotype in transgenic mice aberrantly expressing COL2A1 mRNA because of highly selective post-transcriptional down-regulation. Biochem J 345 Pt 2:377-84
Devoto, M; Shimoya, K; Caminis, J et al. (1998) First-stage autosomal genome screen in extended pedigrees suggests genes predisposing to low bone mineral density on chromosomes 1p, 2p and 4q. Eur J Hum Genet 6:151-7
Kuivaniemi, H; Tromp, G; Prockop, D J (1997) Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels. Hum Mutat 9:300-15
Williams, C J; Ganguly, A; Considine, E et al. (1996) A-2-->G transition at the 3' acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred. Am J Med Genet 63:461-7
Spotila, L D; Caminis, J; Johnston, R et al. (1996) Vitamin D receptor genotype is not associated with bone mineral density in three ethnic/regional groups. Calcif Tissue Int 59:235-7
Busler, D E; Li, S W (1996) Rapid screening of transgenic type II and type XI collagen knock-out mice with three-primer PCR. Biotechniques 21:1002-4
Li, S W; Sieron, A L; Fertala, A et al. (1996) The C-proteinase that processes procollagens to fibrillar collagens is identical to the protein previously identified as bone morphogenic protein-1. Proc Natl Acad Sci U S A 93:5127-30
Zhuang, J; Tromp, G; Kuivaniemi, H et al. (1996) Direct sequencing of PCR products derived from cDNAs for the pro alpha 1 and pro alpha 2 chains of type I procollagen as a screening method to detect mutations in patients with osteogenesis imperfecta. Hum Mutat 7:89-99
Zhuang, J; Tromp, G; Kuivaniemi, H et al. (1996) Substitution of arginine for glycine at position 154 of the alpha 1 chain of type I collagen in a variant of osteogenesis imperfecta: comparison to previous cases with the same mutation. Am J Med Genet 61:111-16
Spotila, L D; Caminis, J; Devoto, M et al. (1996) Osteopenia in 37 members of seven families: analysis based on a model of dominant inheritance. Mol Med 2:313-24

Showing the most recent 10 out of 118 publications