| pubmed-article:1642148 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:1642148 | lifeskim:mentions | umls-concept:C0010453 | lld:lifeskim |
| pubmed-article:1642148 | lifeskim:mentions | umls-concept:C0702111 | lld:lifeskim |
| pubmed-article:1642148 | lifeskim:mentions | umls-concept:C0972255 | lld:lifeskim |
| pubmed-article:1642148 | lifeskim:mentions | umls-concept:C0029418 | lld:lifeskim |
| pubmed-article:1642148 | lifeskim:mentions | umls-concept:C0016030 | lld:lifeskim |
| pubmed-article:1642148 | lifeskim:mentions | umls-concept:C0268363 | lld:lifeskim |
| pubmed-article:1642148 | lifeskim:mentions | umls-concept:C0033235 | lld:lifeskim |
| pubmed-article:1642148 | lifeskim:mentions | umls-concept:C0596988 | lld:lifeskim |
| pubmed-article:1642148 | lifeskim:mentions | umls-concept:C0017262 | lld:lifeskim |
| pubmed-article:1642148 | lifeskim:mentions | umls-concept:C2003941 | lld:lifeskim |
| pubmed-article:1642148 | lifeskim:mentions | umls-concept:C2911684 | lld:lifeskim |
| pubmed-article:1642148 | lifeskim:mentions | umls-concept:C0185117 | lld:lifeskim |
| pubmed-article:1642148 | pubmed:issue | 7 | lld:pubmed |
| pubmed-article:1642148 | pubmed:dateCreated | 1992-9-3 | lld:pubmed |
| pubmed-article:1642148 | pubmed:abstractText | 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. | lld:pubmed |
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| pubmed-article:1642148 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:1642148 | pubmed:language | eng | lld:pubmed |
| pubmed-article:1642148 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:1642148 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:1642148 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:1642148 | pubmed:month | Jul | lld:pubmed |
| pubmed-article:1642148 | pubmed:issn | 0884-0431 | lld:pubmed |
| pubmed-article:1642148 | pubmed:author | pubmed-author:RoweD WDW | lld:pubmed |
| pubmed-article:1642148 | pubmed:author | pubmed-author:ShapiroJ RJR | lld:pubmed |
| pubmed-article:1642148 | pubmed:author | pubmed-author:ChipmanS DSD | lld:pubmed |
| pubmed-article:1642148 | pubmed:author | pubmed-author:StoverM LML | lld:pubmed |
| pubmed-article:1642148 | pubmed:author | pubmed-author:BransonPP | lld:pubmed |
| pubmed-article:1642148 | pubmed:author | pubmed-author:McKinstryM... | lld:pubmed |
| pubmed-article:1642148 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:1642148 | pubmed:volume | 7 | lld:pubmed |
| pubmed-article:1642148 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:1642148 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:1642148 | pubmed:pagination | 793-805 | lld:pubmed |
| pubmed-article:1642148 | pubmed:dateRevised | 2007-11-14 | lld:pubmed |
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| pubmed-article:1642148 | pubmed:meshHeading | pubmed-meshheading:1642148-... | lld:pubmed |
| pubmed-article:1642148 | pubmed:year | 1992 | lld:pubmed |
| pubmed-article:1642148 | pubmed:articleTitle | Expression of mutant alpha (I)-procollagen in osteoblast and fibroblast cultures from a proband with osteogenesis imperfecta type IV. | lld:pubmed |
| pubmed-article:1642148 | pubmed:affiliation | Division of Geriatric Medicine and Gerontology, Johns Hopkins University School of Medicine, Baltimore, Maryland. | lld:pubmed |
| pubmed-article:1642148 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:1642148 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
| pubmed-article:1642148 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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