Matches in SemOpenAlex for { <https://semopenalex.org/work/W2062268103> ?p ?o ?g. }
Showing items 1 to 100 of
100
with 100 items per page.
- W2062268103 endingPage "899" @default.
- W2062268103 startingPage "895" @default.
- W2062268103 abstract "CITED2, a cardiac transcription factor, plays an important role in cardiac development. CITED2 mutations lead to a constellation of cardiac defects, which include tetralogy of Fallot and outflow tract malformations. However, the mechanisms underlying these mutations are poorly understood. We investigated the function and mechanism of two missense mutations, G184S and S192G, responsible for tetralogy of Fallot and aortic stenosis, respectively. We found that CITED2 variants decreased its ability to mediate the expression of vascular endothelial growth factor (VEGF) and the expression of the paired-like homeodomain transcription factor 2-gamma (PITX2C), both of which are closely related to cardiac development. Luciferase reporter and mammalian two-hybrid assays showed that G184S and S192G in CITED2 restored the expression of VEGF, which was due to a reduction in its competitiveness with hypoxia inducible factor 1-alpha (HIF1-α) for binding to CBP/p300. In addition, we found that the G184S and S192G mutant decreased cooperation between CITED2 and transcription factor AP2-gamma (TFAP2C) in the transactivation of the PITX2C gene. These results provide important evidence that the mutation of CITED2 may play a role in the development of congenital heart disease (CHD) in humans." @default.
- W2062268103 created "2016-06-24" @default.
- W2062268103 creator A5006597525 @default.
- W2062268103 creator A5014942240 @default.
- W2062268103 creator A5018168958 @default.
- W2062268103 creator A5056753391 @default.
- W2062268103 creator A5077796071 @default.
- W2062268103 date "2012-07-01" @default.
- W2062268103 modified "2023-10-16" @default.
- W2062268103 title "CITED2 mutation links congenital heart defects to dysregulation of the cardiac gene VEGF and PITX2C expression" @default.
- W2062268103 cites W1590222977 @default.
- W2062268103 cites W1944778414 @default.
- W2062268103 cites W1978943108 @default.
- W2062268103 cites W1988757053 @default.
- W2062268103 cites W2002777789 @default.
- W2062268103 cites W2012517517 @default.
- W2062268103 cites W2023315904 @default.
- W2062268103 cites W2028415084 @default.
- W2062268103 cites W2039542136 @default.
- W2062268103 cites W2040489034 @default.
- W2062268103 cites W2075563634 @default.
- W2062268103 cites W2094135210 @default.
- W2062268103 cites W2125887885 @default.
- W2062268103 cites W2127387556 @default.
- W2062268103 cites W2127793385 @default.
- W2062268103 cites W2154448714 @default.
- W2062268103 cites W2167604198 @default.
- W2062268103 cites W2169962011 @default.
- W2062268103 doi "https://doi.org/10.1016/j.bbrc.2012.06.099" @default.
- W2062268103 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/22735262" @default.
- W2062268103 hasPublicationYear "2012" @default.
- W2062268103 type Work @default.
- W2062268103 sameAs 2062268103 @default.
- W2062268103 citedByCount "21" @default.
- W2062268103 countsByYear W20622681032014 @default.
- W2062268103 countsByYear W20622681032015 @default.
- W2062268103 countsByYear W20622681032016 @default.
- W2062268103 countsByYear W20622681032017 @default.
- W2062268103 countsByYear W20622681032019 @default.
- W2062268103 countsByYear W20622681032021 @default.
- W2062268103 countsByYear W20622681032022 @default.
- W2062268103 countsByYear W20622681032023 @default.
- W2062268103 crossrefType "journal-article" @default.
- W2062268103 hasAuthorship W2062268103A5006597525 @default.
- W2062268103 hasAuthorship W2062268103A5014942240 @default.
- W2062268103 hasAuthorship W2062268103A5018168958 @default.
- W2062268103 hasAuthorship W2062268103A5056753391 @default.
- W2062268103 hasAuthorship W2062268103A5077796071 @default.
- W2062268103 hasConcept C104317684 @default.
- W2062268103 hasConcept C116186050 @default.
- W2062268103 hasConcept C121587040 @default.
- W2062268103 hasConcept C126322002 @default.
- W2062268103 hasConcept C1292079 @default.
- W2062268103 hasConcept C2778646171 @default.
- W2062268103 hasConcept C2780074459 @default.
- W2062268103 hasConcept C501734568 @default.
- W2062268103 hasConcept C502942594 @default.
- W2062268103 hasConcept C54355233 @default.
- W2062268103 hasConcept C71924100 @default.
- W2062268103 hasConcept C75563809 @default.
- W2062268103 hasConcept C86339819 @default.
- W2062268103 hasConcept C86803240 @default.
- W2062268103 hasConcept C95444343 @default.
- W2062268103 hasConceptScore W2062268103C104317684 @default.
- W2062268103 hasConceptScore W2062268103C116186050 @default.
- W2062268103 hasConceptScore W2062268103C121587040 @default.
- W2062268103 hasConceptScore W2062268103C126322002 @default.
- W2062268103 hasConceptScore W2062268103C1292079 @default.
- W2062268103 hasConceptScore W2062268103C2778646171 @default.
- W2062268103 hasConceptScore W2062268103C2780074459 @default.
- W2062268103 hasConceptScore W2062268103C501734568 @default.
- W2062268103 hasConceptScore W2062268103C502942594 @default.
- W2062268103 hasConceptScore W2062268103C54355233 @default.
- W2062268103 hasConceptScore W2062268103C71924100 @default.
- W2062268103 hasConceptScore W2062268103C75563809 @default.
- W2062268103 hasConceptScore W2062268103C86339819 @default.
- W2062268103 hasConceptScore W2062268103C86803240 @default.
- W2062268103 hasConceptScore W2062268103C95444343 @default.
- W2062268103 hasIssue "4" @default.
- W2062268103 hasLocation W20622681031 @default.
- W2062268103 hasLocation W20622681032 @default.
- W2062268103 hasOpenAccess W2062268103 @default.
- W2062268103 hasPrimaryLocation W20622681031 @default.
- W2062268103 hasRelatedWork W1602684793 @default.
- W2062268103 hasRelatedWork W1955059833 @default.
- W2062268103 hasRelatedWork W1986076152 @default.
- W2062268103 hasRelatedWork W2049541444 @default.
- W2062268103 hasRelatedWork W2057972383 @default.
- W2062268103 hasRelatedWork W2071816835 @default.
- W2062268103 hasRelatedWork W2075447762 @default.
- W2062268103 hasRelatedWork W2163253432 @default.
- W2062268103 hasRelatedWork W3024306633 @default.
- W2062268103 hasRelatedWork W4224231110 @default.
- W2062268103 hasVolume "423" @default.
- W2062268103 isParatext "false" @default.
- W2062268103 isRetracted "false" @default.
- W2062268103 magId "2062268103" @default.
- W2062268103 workType "article" @default.