Matches in SemOpenAlex for { <https://semopenalex.org/work/W1589868959> ?p ?o ?g. }
- W1589868959 endingPage "23379" @default.
- W1589868959 startingPage "23373" @default.
- W1589868959 abstract "A mini-gene version of the human gene for a pro-alpha 1(I) chain of type I procollagen (COL1A1) was prepared that contained -2.5 kilobases of the promoter region and the 5'- and 3'-ends of the gene but lacked a large central region containing 41 exons. The construct was modeled after a sporadic in-frame deletion of the human gene that produced a lethal variant of osteogenesis imperfecta, because it caused synthesis of shortened pro-alpha 1(I) chains that associated with normal pro-alpha 1(I) and pro-alpha 2(I) chains and caused degradation of both the shortened and normal pro-alpha chains through a process called procollagen suicide. The mini-gene was used to prepare transgenic mice. Eight of 15 transgenic mice expressed varying levels of the gene. All except one of the Fo founders were phenotypically normal, but several of the founders were apparently mosaic since they produced F1 progeny that died shortly after birth with a distinctive phenotype. The phenotype included extensive fractures of ribs and long bones similar to the fractures seen in lethal variants of osteogenesis imperfecta. Mice with the lethal phenotype expressed much higher levels of the mini-gene than transgenic mice without the lethal phenotype. Experiments with cultured skin fibroblasts from the transgenic mice demonstrated that shortened pro-alpha 1(I) chains synthesized from the mini-gene became disulfide-linked to pro-alpha 1(I) chains synthesized from the endogenous mouse gene. The results demonstrate that a mutated type I procollagen gene based on the model of procollagen suicide can be used to produce a severe phenotype of osteogenesis imperfecta that is genetically transmitted." @default.
- W1589868959 created "2016-06-24" @default.
- W1589868959 creator A5008735636 @default.
- W1589868959 creator A5010312994 @default.
- W1589868959 creator A5030828941 @default.
- W1589868959 creator A5063467889 @default.
- W1589868959 creator A5078623302 @default.
- W1589868959 date "1991-12-01" @default.
- W1589868959 modified "2023-10-16" @default.
- W1589868959 title "Transgenic mice that express a mini-gene version of the human gene for type I procollagen (COL1A1) develop a phenotype resembling a lethal form of osteogenesis imperfecta." @default.
- W1589868959 cites W109746061 @default.
- W1589868959 cites W1511126269 @default.
- W1589868959 cites W1519586751 @default.
- W1589868959 cites W1519718386 @default.
- W1589868959 cites W1524486180 @default.
- W1589868959 cites W1524712435 @default.
- W1589868959 cites W1553932848 @default.
- W1589868959 cites W1567446113 @default.
- W1589868959 cites W1568680485 @default.
- W1589868959 cites W1582983825 @default.
- W1589868959 cites W1603096028 @default.
- W1589868959 cites W1672840578 @default.
- W1589868959 cites W1675239550 @default.
- W1589868959 cites W1976740378 @default.
- W1589868959 cites W1982782860 @default.
- W1589868959 cites W2008701133 @default.
- W1589868959 cites W2047431072 @default.
- W1589868959 cites W2058123622 @default.
- W1589868959 cites W2060215661 @default.
- W1589868959 cites W2060333964 @default.
- W1589868959 cites W2063450941 @default.
- W1589868959 cites W2065264940 @default.
- W1589868959 cites W2089696566 @default.
- W1589868959 cites W2090593776 @default.
- W1589868959 cites W2090885889 @default.
- W1589868959 cites W2091954656 @default.
- W1589868959 cites W2098447041 @default.
- W1589868959 cites W2110795940 @default.
- W1589868959 cites W2152967804 @default.
- W1589868959 cites W4244258380 @default.
- W1589868959 cites W4361866465 @default.
- W1589868959 doi "https://doi.org/10.1016/s0021-9258(18)54506-3" @default.
- W1589868959 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/1744131" @default.
- W1589868959 hasPublicationYear "1991" @default.
- W1589868959 type Work @default.
- W1589868959 sameAs 1589868959 @default.
- W1589868959 citedByCount "84" @default.
- W1589868959 countsByYear W15898689592013 @default.
- W1589868959 countsByYear W15898689592014 @default.
- W1589868959 countsByYear W15898689592016 @default.
- W1589868959 countsByYear W15898689592017 @default.
- W1589868959 countsByYear W15898689592018 @default.
- W1589868959 countsByYear W15898689592020 @default.
- W1589868959 countsByYear W15898689592021 @default.
- W1589868959 countsByYear W15898689592022 @default.
- W1589868959 countsByYear W15898689592023 @default.
- W1589868959 crossrefType "journal-article" @default.
- W1589868959 hasAuthorship W1589868959A5008735636 @default.
- W1589868959 hasAuthorship W1589868959A5010312994 @default.
- W1589868959 hasAuthorship W1589868959A5030828941 @default.
- W1589868959 hasAuthorship W1589868959A5063467889 @default.
- W1589868959 hasAuthorship W1589868959A5078623302 @default.
- W1589868959 hasBestOaLocation W15898689591 @default.
- W1589868959 hasConcept C102230213 @default.
- W1589868959 hasConcept C104317684 @default.
- W1589868959 hasConcept C105702510 @default.
- W1589868959 hasConcept C127716648 @default.
- W1589868959 hasConcept C134018914 @default.
- W1589868959 hasConcept C141035611 @default.
- W1589868959 hasConcept C153911025 @default.
- W1589868959 hasConcept C2777668750 @default.
- W1589868959 hasConcept C2780644872 @default.
- W1589868959 hasConcept C54355233 @default.
- W1589868959 hasConcept C64348721 @default.
- W1589868959 hasConcept C86803240 @default.
- W1589868959 hasConceptScore W1589868959C102230213 @default.
- W1589868959 hasConceptScore W1589868959C104317684 @default.
- W1589868959 hasConceptScore W1589868959C105702510 @default.
- W1589868959 hasConceptScore W1589868959C127716648 @default.
- W1589868959 hasConceptScore W1589868959C134018914 @default.
- W1589868959 hasConceptScore W1589868959C141035611 @default.
- W1589868959 hasConceptScore W1589868959C153911025 @default.
- W1589868959 hasConceptScore W1589868959C2777668750 @default.
- W1589868959 hasConceptScore W1589868959C2780644872 @default.
- W1589868959 hasConceptScore W1589868959C54355233 @default.
- W1589868959 hasConceptScore W1589868959C64348721 @default.
- W1589868959 hasConceptScore W1589868959C86803240 @default.
- W1589868959 hasIssue "34" @default.
- W1589868959 hasLocation W15898689591 @default.
- W1589868959 hasOpenAccess W1589868959 @default.
- W1589868959 hasPrimaryLocation W15898689591 @default.
- W1589868959 hasRelatedWork W1435544796 @default.
- W1589868959 hasRelatedWork W1589868959 @default.
- W1589868959 hasRelatedWork W1977668219 @default.
- W1589868959 hasRelatedWork W1993345617 @default.
- W1589868959 hasRelatedWork W1994644114 @default.
- W1589868959 hasRelatedWork W2100045665 @default.
- W1589868959 hasRelatedWork W2102921737 @default.