FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4386593203> ?p ?o ?g. }

• W4386593203 abstract "ABSTRACT Sequencing of human genome samples has unearthed genetic variants for which functional testing is necessary to validate their clinical significance. We used the Drosophila system to analyze a variant of unknown significance in the human congenital heart disease gene NKX2.5 (also known as NKX2-5). We generated an R321N allele of the NKX2.5 ortholog tinman (tin) to model a human K158N variant and tested its function in vitro and in vivo. The R321N Tin isoform bound poorly to DNA in vitro and was deficient in activating a Tin-dependent enhancer in tissue culture. Mutant Tin also showed a significantly reduced interaction with a Drosophila T-box cardiac factor named Dorsocross1. We generated a tinR321N allele using CRISPR/Cas9, for which homozygotes were viable and had normal heart specification, but showed defects in the differentiation of the adult heart that were exacerbated by further loss of tin function. We propose that the human K158N variant is pathogenic through causing a deficiency in DNA binding and a reduced ability to interact with a cardiac co-factor, and that cardiac defects might arise later in development or adult life." @default.
• W4386593203 created "2023-09-12" @default.
• W4386593203 creator A5009204513 @default.
• W4386593203 creator A5023927044 @default.
• W4386593203 creator A5086418466 @default.
• W4386593203 creator A5092364964 @default.
• W4386593203 creator A5092364965 @default.
• W4386593203 date "2023-09-01" @default.
• W4386593203 modified "2023-10-16" @default.
• W4386593203 title "Using Drosophila to model a variant of unknown significance in the human cardiogenic gene <i>Nkx2.5</i>" @default.
• W4386593203 cites W1482845445 @default.
• W4386593203 cites W1681270309 @default.
• W4386593203 cites W1878240916 @default.
• W4386593203 cites W195571661 @default.
• W4386593203 cites W1973738440 @default.
• W4386593203 cites W1976987160 @default.
• W4386593203 cites W1980327088 @default.
• W4386593203 cites W1984233860 @default.
• W4386593203 cites W1985425648 @default.
• W4386593203 cites W2004537703 @default.
• W4386593203 cites W2010981900 @default.
• W4386593203 cites W2012517517 @default.
• W4386593203 cites W2013364492 @default.
• W4386593203 cites W2015082418 @default.
• W4386593203 cites W2022265743 @default.
• W4386593203 cites W2040686597 @default.
• W4386593203 cites W2040910893 @default.
• W4386593203 cites W2046477359 @default.
• W4386593203 cites W2056656436 @default.
• W4386593203 cites W2060092977 @default.
• W4386593203 cites W2060835874 @default.
• W4386593203 cites W2067370329 @default.
• W4386593203 cites W2069909471 @default.
• W4386593203 cites W2076600697 @default.
• W4386593203 cites W2076849893 @default.
• W4386593203 cites W2093477438 @default.
• W4386593203 cites W2106000284 @default.
• W4386593203 cites W2109409960 @default.
• W4386593203 cites W2111525541 @default.
• W4386593203 cites W2116518429 @default.
• W4386593203 cites W2121036654 @default.
• W4386593203 cites W2151570111 @default.
• W4386593203 cites W2155287484 @default.
• W4386593203 cites W2227087586 @default.
• W4386593203 cites W2267370236 @default.
• W4386593203 cites W2334691552 @default.
• W4386593203 cites W2528619219 @default.
• W4386593203 cites W2547636821 @default.
• W4386593203 cites W2577126958 @default.
• W4386593203 cites W2599373810 @default.
• W4386593203 cites W2991745160 @default.
• W4386593203 cites W3096510779 @default.
• W4386593203 cites W3173507358 @default.
• W4386593203 cites W4221113039 @default.
• W4386593203 cites W4285602917 @default.
• W4386593203 cites W4382931122 @default.
• W4386593203 doi "https://doi.org/10.1242/dmm.050059" @default.
• W4386593203 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/37691628" @default.
• W4386593203 hasPublicationYear "2023" @default.
• W4386593203 type Work @default.
• W4386593203 citedByCount "0" @default.
• W4386593203 crossrefType "journal-article" @default.
• W4386593203 hasAuthorship W4386593203A5009204513 @default.
• W4386593203 hasAuthorship W4386593203A5023927044 @default.
• W4386593203 hasAuthorship W4386593203A5086418466 @default.
• W4386593203 hasAuthorship W4386593203A5092364964 @default.
• W4386593203 hasAuthorship W4386593203A5092364965 @default.
• W4386593203 hasBestOaLocation W43865932031 @default.
• W4386593203 hasConcept C104317684 @default.
• W4386593203 hasConcept C105951970 @default.
• W4386593203 hasConcept C127716648 @default.
• W4386593203 hasConcept C14036430 @default.
• W4386593203 hasConcept C143065580 @default.
• W4386593203 hasConcept C180754005 @default.
• W4386593203 hasConcept C19843653 @default.
• W4386593203 hasConcept C2780104201 @default.
• W4386593203 hasConcept C53345823 @default.
• W4386593203 hasConcept C54355233 @default.
• W4386593203 hasConcept C86803240 @default.
• W4386593203 hasConcept C98108389 @default.
• W4386593203 hasConceptScore W4386593203C104317684 @default.
• W4386593203 hasConceptScore W4386593203C105951970 @default.
• W4386593203 hasConceptScore W4386593203C127716648 @default.
• W4386593203 hasConceptScore W4386593203C14036430 @default.
• W4386593203 hasConceptScore W4386593203C143065580 @default.
• W4386593203 hasConceptScore W4386593203C180754005 @default.
• W4386593203 hasConceptScore W4386593203C19843653 @default.
• W4386593203 hasConceptScore W4386593203C2780104201 @default.
• W4386593203 hasConceptScore W4386593203C53345823 @default.
• W4386593203 hasConceptScore W4386593203C54355233 @default.
• W4386593203 hasConceptScore W4386593203C86803240 @default.
• W4386593203 hasConceptScore W4386593203C98108389 @default.
• W4386593203 hasFunder F4320306230 @default.
• W4386593203 hasFunder F4320309507 @default.
• W4386593203 hasFunder F4320332161 @default.
• W4386593203 hasIssue "9" @default.
• W4386593203 hasLocation W43865932031 @default.
• W4386593203 hasLocation W43865932032 @default.
• W4386593203 hasOpenAccess W4386593203 @default.
• W4386593203 hasPrimaryLocation W43865932031 @default.

• next