FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2947453525> ?p ?o ?g. }

• W2947453525 abstract "Congenital heart defects affect ∼2% of live births and often involve malformations of the semilunar (aortic and pulmonic) valves. We previously reported a highly penetrant GATA4 p.Gly296Ser mutation in familial, congenital atrial septal defects and pulmonic valve stenosis and showed that mice harboring the orthologous G295S disease-causing mutation display not only atrial septal defects, but also semilunar valve stenosis. Here, we aimed to characterize the role of Gata4 in semilunar valve development and stenosis using the Gata4G295Ski/wt mouse model. GATA4 is highly expressed in developing valve endothelial and interstitial cells. Echocardiographic examination of Gata4G295Ski/wt mice at 2 months and 1 year of age identified functional semilunar valve stenosis predominantly affecting the aortic valve, consistent with the distal leaflet thickening and severe extracellular matrix (ECM) disorganization. Examination of the aortic valve at earlier postnatal timepoints demonstrated similar ECM abnormalities consistent with congenital disease. Analysis at embryonic timepoints showed a reduction in aortic valve cushion volume at embryonic day (E) 13.5, predominantly affecting the non-coronary cusp (NCC). While total cusp volume recovered by E15.5, the NCC cusp remained statistically smaller. As endothelial to mesenchymal transition (EMT)-derived cells contribute significantly to the NCC, we performed proximal outflow tract cushion explant assays and found EMT deficits in Gata4G295Ski/wt embryos along with deficits in cell proliferation. RNA-seq analysis of E15.5 outflow tracts of mutant embryos suggested a disease state and identified changes in genes involved in ECM and cell migration as well as dysregulation of Wnt signaling. By utilizing a mouse model harboring a human disease-causing mutation, we demonstrate a novel role for GATA4 in congenital semilunar valve stenosis." @default.
• W2947453525 created "2019-06-07" @default.
• W2947453525 creator A5003213981 @default.
• W2947453525 creator A5038288914 @default.
• W2947453525 creator A5043224765 @default.
• W2947453525 creator A5049888162 @default.
• W2947453525 creator A5050708949 @default.
• W2947453525 creator A5078093524 @default.
• W2947453525 creator A5084060067 @default.
• W2947453525 date "2019-01-01" @default.
• W2947453525 modified "2023-10-06" @default.
• W2947453525 title "Developmental origins for semilunar valve stenosis identified in mice harboring congenital heart disease-associated <i>GATA4</i> mutation" @default.
• W2947453525 cites W1968858235 @default.
• W2947453525 cites W1968975770 @default.
• W2947453525 cites W1976093363 @default.
• W2947453525 cites W1976837359 @default.
• W2947453525 cites W1979437598 @default.
• W2947453525 cites W1982424579 @default.
• W2947453525 cites W1989457690 @default.
• W2947453525 cites W1990240283 @default.
• W2947453525 cites W1990931917 @default.
• W2947453525 cites W2019127826 @default.
• W2947453525 cites W2027166060 @default.
• W2947453525 cites W2034059452 @default.
• W2947453525 cites W2040685986 @default.
• W2947453525 cites W2041299023 @default.
• W2947453525 cites W2050856345 @default.
• W2947453525 cites W2055984563 @default.
• W2947453525 cites W2061642708 @default.
• W2947453525 cites W2063816440 @default.
• W2947453525 cites W2064586774 @default.
• W2947453525 cites W2072166780 @default.
• W2947453525 cites W2072698217 @default.
• W2947453525 cites W2079666339 @default.
• W2947453525 cites W2085121027 @default.
• W2947453525 cites W2086953704 @default.
• W2947453525 cites W2096086497 @default.
• W2947453525 cites W2099140108 @default.
• W2947453525 cites W2099327671 @default.
• W2947453525 cites W2099821071 @default.
• W2947453525 cites W2100305481 @default.
• W2947453525 cites W2102140472 @default.
• W2947453525 cites W2103757269 @default.
• W2947453525 cites W2104655384 @default.
• W2947453525 cites W2106015406 @default.
• W2947453525 cites W2112528351 @default.
• W2947453525 cites W2121114996 @default.
• W2947453525 cites W2122213184 @default.
• W2947453525 cites W2122935465 @default.
• W2947453525 cites W2124126928 @default.
• W2947453525 cites W2137424881 @default.
• W2947453525 cites W2137586531 @default.
• W2947453525 cites W2140109458 @default.
• W2947453525 cites W2145857178 @default.
• W2947453525 cites W2149223832 @default.
• W2947453525 cites W2158217645 @default.
• W2947453525 cites W2159482845 @default.
• W2947453525 cites W2160443244 @default.
• W2947453525 cites W2161411353 @default.
• W2947453525 cites W2161673104 @default.
• W2947453525 cites W2169456326 @default.
• W2947453525 cites W2170095847 @default.
• W2947453525 cites W2306294110 @default.
• W2947453525 cites W2316961718 @default.
• W2947453525 cites W2468459194 @default.
• W2947453525 cites W2494815305 @default.
• W2947453525 cites W2551154296 @default.
• W2947453525 cites W2618913536 @default.
• W2947453525 cites W2763010484 @default.
• W2947453525 cites W2765100641 @default.
• W2947453525 cites W2766557153 @default.
• W2947453525 cites W2770251302 @default.
• W2947453525 cites W4292022394 @default.
• W2947453525 cites W4294216483 @default.
• W2947453525 cites W43806604 @default.
• W2947453525 cites W581368393 @default.
• W2947453525 cites W84590241 @default.
• W2947453525 cites W4211200033 @default.
• W2947453525 doi "https://doi.org/10.1242/dmm.036764" @default.
• W2947453525 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6602309" @default.
• W2947453525 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/31138536" @default.
• W2947453525 hasPublicationYear "2019" @default.
• W2947453525 type Work @default.
• W2947453525 sameAs 2947453525 @default.
• W2947453525 citedByCount "15" @default.
• W2947453525 countsByYear W29474535252019 @default.
• W2947453525 countsByYear W29474535252020 @default.
• W2947453525 countsByYear W29474535252021 @default.
• W2947453525 countsByYear W29474535252022 @default.
• W2947453525 countsByYear W29474535252023 @default.
• W2947453525 crossrefType "journal-article" @default.
• W2947453525 hasAuthorship W2947453525A5003213981 @default.
• W2947453525 hasAuthorship W2947453525A5038288914 @default.
• W2947453525 hasAuthorship W2947453525A5043224765 @default.
• W2947453525 hasAuthorship W2947453525A5049888162 @default.
• W2947453525 hasAuthorship W2947453525A5050708949 @default.
• W2947453525 hasAuthorship W2947453525A5078093524 @default.
• W2947453525 hasAuthorship W2947453525A5084060067 @default.
• W2947453525 hasBestOaLocation W29474535251 @default.
• W2947453525 hasConcept C104317684 @default.

• next