Matches in SemOpenAlex for { <https://semopenalex.org/work/W2050248093> ?p ?o ?g. }
Showing items 1 to 86 of
86
with 100 items per page.
- W2050248093 endingPage "999" @default.
- W2050248093 startingPage "993" @default.
- W2050248093 abstract "Genetic mutations in GATA4, a transcriptional factor, have been found to cause congenital heart diseases. The underlying mechanism, however, remains largely unknown. We previously reported 7 heterozygous variants in patients with ventricular septal defects (VSD). Here we functionally characterized a de novo mutation p.S335X and demonstrated that this mutation led to the pre-termination of its translation, producing a truncated GATA4 lacking a conservative region at C-terminus. Truncated GATA4 did not disturb its subcellular localization; however, it delayed the cardiomyocyte differentiation in P19cl6 model and prohibited Bcl2 expression that led to apoptosis proved by fragmented genomic DNA and positive TUNEL staining in H9C2 cells. By ChIP assay, we showed that GATA4 without C-terminus reduced its DNA binding affinity and suppressed the expressions of its target genes. These findings suggest that C-terminus of GATA4 is critical to maintain DNA binding, and genetic mutations in this region may affect genes important for myocyte apoptosis and differentiation associated with congenital heart defects. Keywords: Apoptosis, DNA-binding, differentiation, GATA4, ventricular septal defect." @default.
- W2050248093 created "2016-06-24" @default.
- W2050248093 creator A5027958721 @default.
- W2050248093 creator A5031525688 @default.
- W2050248093 creator A5038030707 @default.
- W2050248093 creator A5044329378 @default.
- W2050248093 creator A5046359225 @default.
- W2050248093 creator A5049679170 @default.
- W2050248093 creator A5054849211 @default.
- W2050248093 creator A5061758333 @default.
- W2050248093 creator A5062637798 @default.
- W2050248093 creator A5068672372 @default.
- W2050248093 creator A5077402038 @default.
- W2050248093 creator A5091071207 @default.
- W2050248093 date "2013-06-01" @default.
- W2050248093 modified "2023-10-16" @default.
- W2050248093 title "Mutation p.S335X in GATA4 Reduces its DNA Binding Affinity and Enhances Cell Apoptosis Associated with Ventricular Septal Defect" @default.
- W2050248093 doi "https://doi.org/10.2174/15665240113139990053" @default.
- W2050248093 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23745586" @default.
- W2050248093 hasPublicationYear "2013" @default.
- W2050248093 type Work @default.
- W2050248093 sameAs 2050248093 @default.
- W2050248093 citedByCount "5" @default.
- W2050248093 countsByYear W20502480932015 @default.
- W2050248093 countsByYear W20502480932019 @default.
- W2050248093 countsByYear W20502480932020 @default.
- W2050248093 countsByYear W20502480932021 @default.
- W2050248093 crossrefType "journal-article" @default.
- W2050248093 hasAuthorship W2050248093A5027958721 @default.
- W2050248093 hasAuthorship W2050248093A5031525688 @default.
- W2050248093 hasAuthorship W2050248093A5038030707 @default.
- W2050248093 hasAuthorship W2050248093A5044329378 @default.
- W2050248093 hasAuthorship W2050248093A5046359225 @default.
- W2050248093 hasAuthorship W2050248093A5049679170 @default.
- W2050248093 hasAuthorship W2050248093A5054849211 @default.
- W2050248093 hasAuthorship W2050248093A5061758333 @default.
- W2050248093 hasAuthorship W2050248093A5062637798 @default.
- W2050248093 hasAuthorship W2050248093A5068672372 @default.
- W2050248093 hasAuthorship W2050248093A5077402038 @default.
- W2050248093 hasAuthorship W2050248093A5091071207 @default.
- W2050248093 hasConcept C104317684 @default.
- W2050248093 hasConcept C116186050 @default.
- W2050248093 hasConcept C153911025 @default.
- W2050248093 hasConcept C190283241 @default.
- W2050248093 hasConcept C196795494 @default.
- W2050248093 hasConcept C501734568 @default.
- W2050248093 hasConcept C502942594 @default.
- W2050248093 hasConcept C54355233 @default.
- W2050248093 hasConcept C552990157 @default.
- W2050248093 hasConcept C86339819 @default.
- W2050248093 hasConcept C86803240 @default.
- W2050248093 hasConcept C95444343 @default.
- W2050248093 hasConceptScore W2050248093C104317684 @default.
- W2050248093 hasConceptScore W2050248093C116186050 @default.
- W2050248093 hasConceptScore W2050248093C153911025 @default.
- W2050248093 hasConceptScore W2050248093C190283241 @default.
- W2050248093 hasConceptScore W2050248093C196795494 @default.
- W2050248093 hasConceptScore W2050248093C501734568 @default.
- W2050248093 hasConceptScore W2050248093C502942594 @default.
- W2050248093 hasConceptScore W2050248093C54355233 @default.
- W2050248093 hasConceptScore W2050248093C552990157 @default.
- W2050248093 hasConceptScore W2050248093C86339819 @default.
- W2050248093 hasConceptScore W2050248093C86803240 @default.
- W2050248093 hasConceptScore W2050248093C95444343 @default.
- W2050248093 hasIssue "6" @default.
- W2050248093 hasLocation W20502480931 @default.
- W2050248093 hasLocation W20502480932 @default.
- W2050248093 hasOpenAccess W2050248093 @default.
- W2050248093 hasPrimaryLocation W20502480931 @default.
- W2050248093 hasRelatedWork W2078893970 @default.
- W2050248093 hasRelatedWork W2358167431 @default.
- W2050248093 hasRelatedWork W2363015721 @default.
- W2050248093 hasRelatedWork W2363448681 @default.
- W2050248093 hasRelatedWork W2375996613 @default.
- W2050248093 hasRelatedWork W2388367751 @default.
- W2050248093 hasRelatedWork W2394096037 @default.
- W2050248093 hasRelatedWork W3025059877 @default.
- W2050248093 hasRelatedWork W3145668197 @default.
- W2050248093 hasRelatedWork W788896063 @default.
- W2050248093 hasVolume "13" @default.
- W2050248093 isParatext "false" @default.
- W2050248093 isRetracted "false" @default.
- W2050248093 magId "2050248093" @default.
- W2050248093 workType "article" @default.