FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1585554611> ?p ?o ?g. }

• W1585554611 endingPage "507" @default.
• W1585554611 startingPage "497" @default.
• W1585554611 abstract "A proband with arterial ruptures and skin changes characteristic of the type IV variant of Ehlers-Danlos syndrome was found to have a single-base mutation in the type III procollagen gene, which converted the codon for glycine at amino acid position 1018 to a codon for aspartate. (Amino acid positions are numbered by the standard convention in which the first glycine of the triple-helical domain of an alpha chain is number 1. The numbers of positions in the alpha 1(III) chains can be converted to positions in the human pro alpha(III) chain by adding 167.) Nucleotide sequencing of overlapping PCR products in which the two alleles were distinguished demonstrated that the mutation of glycine 1018 was the only mutation that changed the primary structure of type III procollagen. The glycine substitution markedly decreased the amount of type III procollagen secreted into the medium by cultured skin fibroblasts from the proband. It is surprising that the same mutation was found in about 94% of the peripheral blood leukocytes from the proband's asymptomatic 72-year-old mother. Other tissues from the mother contained the mutated allele; it was present in 0%-100% of different samples of hair cells and in about 40% of cells from the oral epithelium. Therefore, the mother was a mosaic for the mutation. Since the mutated allele was present in cells derived from all three germ layers, the results indicated that the mutation arose by the late blastocyst stage of development. The results also indicate that assays of blood leukocytes do not always reveal mosaicism or predict phenotypic involvement of tissues, such as blood vessels, that are derived from the same embryonic cells as are leukocytes." @default.
• W1585554611 created "2016-06-24" @default.
• W1585554611 creator A5010312994 @default.
• W1585554611 creator A5018307818 @default.
• W1585554611 creator A5020282114 @default.
• W1585554611 creator A5030828941 @default.
• W1585554611 creator A5054520286 @default.
• W1585554611 creator A5070040757 @default.
• W1585554611 date "1992-09-01" @default.
• W1585554611 modified "2023-09-23" @default.
• W1585554611 title "Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother." @default.
• W1585554611 cites W130654554 @default.
• W1585554611 cites W1497123701 @default.
• W1585554611 cites W1511126269 @default.
• W1585554611 cites W1523044058 @default.
• W1585554611 cites W1536132002 @default.
• W1585554611 cites W1545459122 @default.
• W1585554611 cites W1556237607 @default.
• W1585554611 cites W1565785521 @default.
• W1585554611 cites W1590694322 @default.
• W1585554611 cites W1628366259 @default.
• W1585554611 cites W1904566878 @default.
• W1585554611 cites W1938861538 @default.
• W1585554611 cites W1965610374 @default.
• W1585554611 cites W1978987630 @default.
• W1585554611 cites W1979001230 @default.
• W1585554611 cites W1990335000 @default.
• W1585554611 cites W2000716800 @default.
• W1585554611 cites W2004616270 @default.
• W1585554611 cites W2036541137 @default.
• W1585554611 cites W2043345949 @default.
• W1585554611 cites W2043519155 @default.
• W1585554611 cites W2046177255 @default.
• W1585554611 cites W2047637083 @default.
• W1585554611 cites W2050717506 @default.
• W1585554611 cites W2060063694 @default.
• W1585554611 cites W2072505719 @default.
• W1585554611 cites W2075725314 @default.
• W1585554611 cites W2076854734 @default.
• W1585554611 cites W2081091696 @default.
• W1585554611 cites W2091239909 @default.
• W1585554611 cites W2098447041 @default.
• W1585554611 cites W2138270253 @default.
• W1585554611 cites W2158400950 @default.
• W1585554611 cites W2160256489 @default.
• W1585554611 cites W2166336286 @default.
• W1585554611 cites W2167021585 @default.
• W1585554611 cites W2221741629 @default.
• W1585554611 cites W230396661 @default.
• W1585554611 cites W2408231686 @default.
• W1585554611 cites W281458651 @default.
• W1585554611 cites W4299135223 @default.
• W1585554611 cites W91167934 @default.
• W1585554611 cites W97799148 @default.
• W1585554611 cites W4290323044 @default.
• W1585554611 cites W43440183 @default.
• W1585554611 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/1682722" @default.
• W1585554611 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/1496983" @default.
• W1585554611 hasPublicationYear "1992" @default.
• W1585554611 type Work @default.
• W1585554611 sameAs 1585554611 @default.
• W1585554611 citedByCount "16" @default.
• W1585554611 countsByYear W15855546112019 @default.
• W1585554611 crossrefType "journal-article" @default.
• W1585554611 hasAuthorship W1585554611A5010312994 @default.
• W1585554611 hasAuthorship W1585554611A5018307818 @default.
• W1585554611 hasAuthorship W1585554611A5020282114 @default.
• W1585554611 hasAuthorship W1585554611A5030828941 @default.
• W1585554611 hasAuthorship W1585554611A5054520286 @default.
• W1585554611 hasAuthorship W1585554611A5070040757 @default.
• W1585554611 hasConcept C104317684 @default.
• W1585554611 hasConcept C153911025 @default.
• W1585554611 hasConcept C176944494 @default.
• W1585554611 hasConcept C180754005 @default.
• W1585554611 hasConcept C188997412 @default.
• W1585554611 hasConcept C2777756961 @default.
• W1585554611 hasConcept C501734568 @default.
• W1585554611 hasConcept C515207424 @default.
• W1585554611 hasConcept C54355233 @default.
• W1585554611 hasConcept C64348721 @default.
• W1585554611 hasConcept C86803240 @default.
• W1585554611 hasConceptScore W1585554611C104317684 @default.
• W1585554611 hasConceptScore W1585554611C153911025 @default.
• W1585554611 hasConceptScore W1585554611C176944494 @default.
• W1585554611 hasConceptScore W1585554611C180754005 @default.
• W1585554611 hasConceptScore W1585554611C188997412 @default.
• W1585554611 hasConceptScore W1585554611C2777756961 @default.
• W1585554611 hasConceptScore W1585554611C501734568 @default.
• W1585554611 hasConceptScore W1585554611C515207424 @default.
• W1585554611 hasConceptScore W1585554611C54355233 @default.
• W1585554611 hasConceptScore W1585554611C64348721 @default.
• W1585554611 hasConceptScore W1585554611C86803240 @default.
• W1585554611 hasIssue "3" @default.
• W1585554611 hasLocation W15855546111 @default.
• W1585554611 hasOpenAccess W1585554611 @default.
• W1585554611 hasPrimaryLocation W15855546111 @default.
• W1585554611 hasRelatedWork W1970696099 @default.
• W1585554611 hasRelatedWork W1994621405 @default.

• next