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http://purl.uniprot.org/citations/1642148http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/1642148http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/1642148http://www.w3.org/2000/01/rdf-schema#comment"This study compares the synthesis of mutant type I collagen in cultured dermal fibroblasts and trabecular osteoblasts that were isolated from a patient with moderately severe osteogenesis imperfecta (type IV). Previous study of this patient's dermal fibroblasts revealed a 2000 dalton deletion located in cyanogen bromide peptide 4 of alpha 2(I)-collagen. The phenotype of the bone cell cultures was defined by a 3-4 day logarithmic phase doubling time, predominantly type I collagen production over type III and alkaline phosphatase activity 13.5 times dermal fibroblast levels. The current study revealed that both fibroblasts and osteoblasts synthesized a normal and a shortened alpha 2(I) chain, each as the product of separate alleles. Following pepsin treatment of the procollagens, a shortened alpha 1(I) chain was also seen in both cell types. Cyanogen bromide peptide mapping of osteoblast alpha-chains demonstrated the same deletions in the cyanogen bromide peptide 4 as observed in the fibroblast cyanogen bromide maps. PAGE analysis of oligonucleotide-specific cDNA that was reverse transcribed from RNA isolated from fibroblasts and osteoblasts also demonstrated the presence of two bands, one the normal size of alpha 2(I) cDNA and a second species that was smaller by 54 base pairs. Sequencing of polymerase chain reaction-amplified cDNA fragments revealed an in-frame deletion of exon 12. This finding was confirmed by the RNase protection method. Genomic DNA sequencing detected a T----G point mutation in the second position of the 5' splice donor site of intron 12. Therefore, in this patient with osteogenesis imperfecta there was no qualitative alteration in the osteoblast-specific expression of this mutant alpha 2(I)-collagen allele compared to dermal fibroblasts."xsd:string
http://purl.uniprot.org/citations/1642148http://purl.org/dc/terms/identifier"doi:10.1002/jbmr.5650070709"xsd:string
http://purl.uniprot.org/citations/1642148http://purl.org/dc/terms/identifier"doi:10.1002/jbmr.5650070709"xsd:string
http://purl.uniprot.org/citations/1642148http://purl.uniprot.org/core/author"Shapiro J.R."xsd:string
http://purl.uniprot.org/citations/1642148http://purl.uniprot.org/core/author"Shapiro J.R."xsd:string
http://purl.uniprot.org/citations/1642148http://purl.uniprot.org/core/author"Chipman S.D."xsd:string
http://purl.uniprot.org/citations/1642148http://purl.uniprot.org/core/author"Chipman S.D."xsd:string
http://purl.uniprot.org/citations/1642148http://purl.uniprot.org/core/author"McKinstry M.B."xsd:string
http://purl.uniprot.org/citations/1642148http://purl.uniprot.org/core/author"McKinstry M.B."xsd:string
http://purl.uniprot.org/citations/1642148http://purl.uniprot.org/core/author"Rowe D.W."xsd:string
http://purl.uniprot.org/citations/1642148http://purl.uniprot.org/core/author"Rowe D.W."xsd:string
http://purl.uniprot.org/citations/1642148http://purl.uniprot.org/core/author"Stover M.L."xsd:string
http://purl.uniprot.org/citations/1642148http://purl.uniprot.org/core/author"Stover M.L."xsd:string
http://purl.uniprot.org/citations/1642148http://purl.uniprot.org/core/author"Branson P."xsd:string
http://purl.uniprot.org/citations/1642148http://purl.uniprot.org/core/author"Branson P."xsd:string
http://purl.uniprot.org/citations/1642148http://purl.uniprot.org/core/date"1992"xsd:gYear
http://purl.uniprot.org/citations/1642148http://purl.uniprot.org/core/date"1992"xsd:gYear
http://purl.uniprot.org/citations/1642148http://purl.uniprot.org/core/name"J. Bone Miner. Res."xsd:string
http://purl.uniprot.org/citations/1642148http://purl.uniprot.org/core/name"J. Bone Miner. Res."xsd:string
http://purl.uniprot.org/citations/1642148http://purl.uniprot.org/core/pages"793-805"xsd:string
http://purl.uniprot.org/citations/1642148http://purl.uniprot.org/core/pages"793-805"xsd:string
http://purl.uniprot.org/citations/1642148http://purl.uniprot.org/core/title"Expression of mutant alpha (I)-procollagen in osteoblast and fibroblast cultures from a proband with osteogenesis imperfecta type IV."xsd:string
http://purl.uniprot.org/citations/1642148http://purl.uniprot.org/core/title"Expression of mutant alpha (I)-procollagen in osteoblast and fibroblast cultures from a proband with osteogenesis imperfecta type IV."xsd:string
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