Matches in SemOpenAlex for { <https://semopenalex.org/work/W186853567> ?p ?o ?g. }
Showing items 1 to 99 of
99
with 100 items per page.
- W186853567 endingPage "7861" @default.
- W186853567 startingPage "7855" @default.
- W186853567 abstract "We have identified an infant with the perinatal lethal form of osteogenesis imperfecta (type II) whose cells synthesize in equal amounts two different pro alpha 1(I) chains of type I procollagen: one chain is normal in length, the other contains an insertion of approximately 50-70 amino acid residues within the triple helical domain defined by amino acids 123-220. The structure of the insertion is consistent with duplication of an approximately 600-base pair segment in one allele of the alpha 1(I) gene (COL1A1). These cells synthesize normal type I procollagen molecules as well as molecules that contain one or two mutant chains. Unlike type I procollagen molecules synthesized by cells from most other infants with osteogenesis imperfecta type II which contain increased lysyl hydroxylation and hydroxylysyl glycosylation along the triple helical domain, the abnormal molecules synthesized by these cells are not overmodified. The lethal effect of this mutation may result from secretion of about one-quarter the normal amount of normal type I procollagen and secretion of a large amount of a molecule which has a lowered melting temperature, is extended asymmetrically, and which has altered structure in domains important for cross-link formation and bone mineralization." @default.
- W186853567 created "2016-06-24" @default.
- W186853567 creator A5028137732 @default.
- W186853567 creator A5044234765 @default.
- W186853567 creator A5082125689 @default.
- W186853567 creator A5088753998 @default.
- W186853567 date "1988-06-01" @default.
- W186853567 modified "2023-10-16" @default.
- W186853567 title "A novel mutation causes a perinatal lethal form of osteogenesis imperfecta. An insertion in one alpha 1(I) collagen allele (COL1A1)." @default.
- W186853567 cites W1513604840 @default.
- W186853567 cites W1514121625 @default.
- W186853567 cites W1519586751 @default.
- W186853567 cites W1519718386 @default.
- W186853567 cites W1524486180 @default.
- W186853567 cites W1539808460 @default.
- W186853567 cites W1586141849 @default.
- W186853567 cites W1603096028 @default.
- W186853567 cites W1724717646 @default.
- W186853567 cites W1856207023 @default.
- W186853567 cites W1974495990 @default.
- W186853567 cites W1982782860 @default.
- W186853567 cites W1987034287 @default.
- W186853567 cites W1993754322 @default.
- W186853567 cites W1996883805 @default.
- W186853567 cites W2005258766 @default.
- W186853567 cites W2014669590 @default.
- W186853567 cites W2041869897 @default.
- W186853567 cites W2051299874 @default.
- W186853567 cites W2055118741 @default.
- W186853567 cites W2057294325 @default.
- W186853567 cites W2063450941 @default.
- W186853567 cites W2091954656 @default.
- W186853567 cites W2098828493 @default.
- W186853567 cites W2100837269 @default.
- W186853567 cites W2110795940 @default.
- W186853567 cites W2154852947 @default.
- W186853567 cites W2154974204 @default.
- W186853567 cites W4236778248 @default.
- W186853567 doi "https://doi.org/10.1016/s0021-9258(18)68576-x" @default.
- W186853567 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/3372508" @default.
- W186853567 hasPublicationYear "1988" @default.
- W186853567 type Work @default.
- W186853567 sameAs 186853567 @default.
- W186853567 citedByCount "44" @default.
- W186853567 countsByYear W1868535672013 @default.
- W186853567 countsByYear W1868535672020 @default.
- W186853567 countsByYear W1868535672021 @default.
- W186853567 countsByYear W1868535672023 @default.
- W186853567 crossrefType "journal-article" @default.
- W186853567 hasAuthorship W186853567A5028137732 @default.
- W186853567 hasAuthorship W186853567A5044234765 @default.
- W186853567 hasAuthorship W186853567A5082125689 @default.
- W186853567 hasAuthorship W186853567A5088753998 @default.
- W186853567 hasBestOaLocation W1868535671 @default.
- W186853567 hasConcept C104317684 @default.
- W186853567 hasConcept C105702510 @default.
- W186853567 hasConcept C141071460 @default.
- W186853567 hasConcept C180754005 @default.
- W186853567 hasConcept C2775944032 @default.
- W186853567 hasConcept C2777668750 @default.
- W186853567 hasConcept C49453240 @default.
- W186853567 hasConcept C501734568 @default.
- W186853567 hasConcept C54355233 @default.
- W186853567 hasConcept C64943373 @default.
- W186853567 hasConcept C71924100 @default.
- W186853567 hasConcept C86803240 @default.
- W186853567 hasConceptScore W186853567C104317684 @default.
- W186853567 hasConceptScore W186853567C105702510 @default.
- W186853567 hasConceptScore W186853567C141071460 @default.
- W186853567 hasConceptScore W186853567C180754005 @default.
- W186853567 hasConceptScore W186853567C2775944032 @default.
- W186853567 hasConceptScore W186853567C2777668750 @default.
- W186853567 hasConceptScore W186853567C49453240 @default.
- W186853567 hasConceptScore W186853567C501734568 @default.
- W186853567 hasConceptScore W186853567C54355233 @default.
- W186853567 hasConceptScore W186853567C64943373 @default.
- W186853567 hasConceptScore W186853567C71924100 @default.
- W186853567 hasConceptScore W186853567C86803240 @default.
- W186853567 hasIssue "16" @default.
- W186853567 hasLocation W1868535671 @default.
- W186853567 hasOpenAccess W186853567 @default.
- W186853567 hasPrimaryLocation W1868535671 @default.
- W186853567 hasRelatedWork W1975253683 @default.
- W186853567 hasRelatedWork W1982337721 @default.
- W186853567 hasRelatedWork W2013166796 @default.
- W186853567 hasRelatedWork W2057739827 @default.
- W186853567 hasRelatedWork W2110607411 @default.
- W186853567 hasRelatedWork W2348537836 @default.
- W186853567 hasRelatedWork W2381230462 @default.
- W186853567 hasRelatedWork W2397047183 @default.
- W186853567 hasRelatedWork W2996592422 @default.
- W186853567 hasRelatedWork W4207082868 @default.
- W186853567 hasVolume "263" @default.
- W186853567 isParatext "false" @default.
- W186853567 isRetracted "false" @default.
- W186853567 magId "186853567" @default.
- W186853567 workType "article" @default.