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Gene Therapy|April 9, 2005
Correction of a mineralization defect by overexpression of a wild-type cDNA for COL1A1 in marrow stromal cells (MSCs) from a patient with osteogenesis imperfecta: a strategy for rescuing mutations that produce dominant-negative protein defectsR R Pochampally, E M Horwitz, C M DiGirolamo, et al.
The Journal of Biological Chemistry|April 15, 1994
Self-assembly of collagen I from a proband homozygous for a mutation that substituted serine for glycine at position 661 in the alpha 2(I) chain. Possible relationship between the effects of mutations on critical concentration and the severity of the phenotypeA M Romanic, L D Spotila, E Adachi, et al.
American Journal of Human Genetics|March 7, 1998
Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutationsJ Körkkö, L Ala-Kokko, A De Paepe, et al.
Proceedings of the National Academy of Sciences of the United States of America|September 1, 1991
Expression of a partially deleted gene of human type II procollagen (COL2A1) in transgenic mice produces a chondrodysplasiaP Vandenberg, J S Khillan, D J Prockop, et al.
Blood|March 9, 1999
Human immunodeficiency virus type 1 Vpr alters bone marrow cell functionJ Kulkosky, A Laptev, S Shetty, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 14, 1996
The C-proteinase that processes procollagens to fibrillar collagens is identical to the protein previously identified as bone morphogenic protein-1S W Li, A L Sieron, A Fertala, et al.
Biochemistry|May 21, 1991
A type I collagen with substitution of a cysteine for glycine-748 in the alpha 1(I) chain copolymerizes with normal type I collagen and can generate fractallike structuresK E Kadler, A Torre-Blanco, E Adachi, et al.
The Journal of Biological Chemistry|August 5, 1991
Expression of a human cartilage procollagen gene (COL2A1) in mouse 3T3 cellsL Ala-Kokko, J Hyland, C Smith, et al.
The Biochemical Journal|August 1, 1988
Structure of a full-length cDNA clone for the prepro alpha 1(I) chain of human type I procollagenG Tromp, H Kuivaniemi, A Stacey, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 15, 1991
Mutation in a gene for type I procollagen (COL1A2) in a woman with postmenopausal osteoporosis: evidence for phenotypic and genotypic overlap with mild osteogenesis imperfectaL D Spotila, C D Constantinou, L Sereda, et al.
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