Matches in SemOpenAlex for { <https://semopenalex.org/work/W2023290679> ?p ?o ?g. }
Showing items 1 to 82 of
82
with 100 items per page.
- W2023290679 abstract "Although virtually all mutations that result in osteogenesis imperfecta (OI) affect the genes that encode the chains of type I procollagen, the effects of mutations in the COL1A2 gene have received less attention than those in the COL1A1 gene. We have characterized mutations in 4 families that give rise to different OI phenotypes. In three families substitutions of glycine residues by cysteine in the triple helical domain (a single example at position 259 and 2 families in which substitution of glycine at 646 by cysteine) have been identified, and in the fourth a G for A transition at position +4 in intron 33 led to use of an alternative splice site and inclusion of 6 amino acids (val-gly-arg-ile-leu-phe) between residues 585 and 586 of the normal triple helix. The relation between position of substitution of glycine by cysteine in the COL1A2 gene does not follow the pattern developed in the COL1A1 gene. To determine how COL1A2 mutations produce OI phenotypes, we have produced a full-length mouse cDNA into which we plan to place mutations and examine their effects in stably transfected osteogenic cells and in transgenic animals." @default.
- W2023290679 created "2016-06-24" @default.
- W2023290679 creator A5022433470 @default.
- W2023290679 creator A5028902678 @default.
- W2023290679 creator A5044051696 @default.
- W2023290679 creator A5083697385 @default.
- W2023290679 date "1993-01-15" @default.
- W2023290679 modified "2023-09-27" @default.
- W2023290679 title "Mutations in the COL1A2 gene of type I collagen that result in nonlethal forms of osteogenesis imperfecta" @default.
- W2023290679 cites W109746061 @default.
- W2023290679 cites W1504302948 @default.
- W2023290679 cites W1645846472 @default.
- W2023290679 cites W1982828360 @default.
- W2023290679 cites W1993754322 @default.
- W2023290679 cites W1995997383 @default.
- W2023290679 cites W2011580908 @default.
- W2023290679 cites W2019195734 @default.
- W2023290679 cites W2045093858 @default.
- W2023290679 cites W2048687924 @default.
- W2023290679 cites W2084152511 @default.
- W2023290679 cites W2089559330 @default.
- W2023290679 cites W2108388593 @default.
- W2023290679 cites W2156701808 @default.
- W2023290679 doi "https://doi.org/10.1002/ajmg.1320450215" @default.
- W2023290679 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/8456807" @default.
- W2023290679 hasPublicationYear "1993" @default.
- W2023290679 type Work @default.
- W2023290679 sameAs 2023290679 @default.
- W2023290679 citedByCount "7" @default.
- W2023290679 countsByYear W20232906792015 @default.
- W2023290679 countsByYear W20232906792017 @default.
- W2023290679 crossrefType "journal-article" @default.
- W2023290679 hasAuthorship W2023290679A5022433470 @default.
- W2023290679 hasAuthorship W2023290679A5028902678 @default.
- W2023290679 hasAuthorship W2023290679A5044051696 @default.
- W2023290679 hasAuthorship W2023290679A5083697385 @default.
- W2023290679 hasConcept C104317684 @default.
- W2023290679 hasConcept C105702510 @default.
- W2023290679 hasConcept C127716648 @default.
- W2023290679 hasConcept C153911025 @default.
- W2023290679 hasConcept C187882448 @default.
- W2023290679 hasConcept C194232998 @default.
- W2023290679 hasConcept C2777668750 @default.
- W2023290679 hasConcept C2777756961 @default.
- W2023290679 hasConcept C501734568 @default.
- W2023290679 hasConcept C515207424 @default.
- W2023290679 hasConcept C54355233 @default.
- W2023290679 hasConcept C64348721 @default.
- W2023290679 hasConcept C86803240 @default.
- W2023290679 hasConcept C94671646 @default.
- W2023290679 hasConceptScore W2023290679C104317684 @default.
- W2023290679 hasConceptScore W2023290679C105702510 @default.
- W2023290679 hasConceptScore W2023290679C127716648 @default.
- W2023290679 hasConceptScore W2023290679C153911025 @default.
- W2023290679 hasConceptScore W2023290679C187882448 @default.
- W2023290679 hasConceptScore W2023290679C194232998 @default.
- W2023290679 hasConceptScore W2023290679C2777668750 @default.
- W2023290679 hasConceptScore W2023290679C2777756961 @default.
- W2023290679 hasConceptScore W2023290679C501734568 @default.
- W2023290679 hasConceptScore W2023290679C515207424 @default.
- W2023290679 hasConceptScore W2023290679C54355233 @default.
- W2023290679 hasConceptScore W2023290679C64348721 @default.
- W2023290679 hasConceptScore W2023290679C86803240 @default.
- W2023290679 hasConceptScore W2023290679C94671646 @default.
- W2023290679 hasLocation W20232906791 @default.
- W2023290679 hasLocation W20232906792 @default.
- W2023290679 hasOpenAccess W2023290679 @default.
- W2023290679 hasPrimaryLocation W20232906791 @default.
- W2023290679 hasRelatedWork W1984458685 @default.
- W2023290679 hasRelatedWork W1997308958 @default.
- W2023290679 hasRelatedWork W1999898712 @default.
- W2023290679 hasRelatedWork W2023290679 @default.
- W2023290679 hasRelatedWork W2051729028 @default.
- W2023290679 hasRelatedWork W2055786707 @default.
- W2023290679 hasRelatedWork W2357566011 @default.
- W2023290679 hasRelatedWork W2376297435 @default.
- W2023290679 hasRelatedWork W2390442996 @default.
- W2023290679 hasRelatedWork W2416459524 @default.
- W2023290679 isParatext "false" @default.
- W2023290679 isRetracted "false" @default.
- W2023290679 magId "2023290679" @default.
- W2023290679 workType "article" @default.