2022
Clinical, demographic and genetic features of patients with congenital heart disease : A single center experience
KAYMAKCALAN H, YALCINKAYA L, NIKEREL E, YALCIN Y, DONG W, Sencıcek A. Clinical, demographic and genetic features of patients with congenital heart disease : A single center experience. Marmara Medical Journal 2022, 35: 159-163. DOI: 10.5472/marumj.1120570.Peer-Reviewed Original ResearchMutation spectrum of congenital heart disease in a consanguineous Turkish population
Dong W, Kaymakcalan H, Jin SC, Diab NS, Tanıdır C, Yalcin ASY, Ercan‐Sencicek A, Mane S, Gunel M, Lifton RP, Bilguvar K, Brueckner M. Mutation spectrum of congenital heart disease in a consanguineous Turkish population. Molecular Genetics & Genomic Medicine 2022, 10: e1944. PMID: 35481623, PMCID: PMC9184665, DOI: 10.1002/mgg3.1944.Peer-Reviewed Original ResearchConceptsWhole-exome sequencingLaterality defectsUnique genetic architectureCongenital heart diseaseConsanguineous familyGenetic architectureCausal genesCHD genesGenome analysisHomozygous variantGenetic landscapeGenetic lesionsGenomic alterationsHeart diseaseConsanguineous populationFunction variantsRecessive variantsCHD probandsGenesType of CHDMutation spectrumStructural congenital heart diseaseVariantsCHD subjectsAdditional patients
2021
YAP/TEAD1 Complex Is a Default Repressor of Cardiac Toll-Like Receptor Genes
Gao Y, Sun Y, Ercan-Sencicek AG, King JS, Akerberg BN, Ma Q, Kontaridis MI, Pu WT, Lin Z. YAP/TEAD1 Complex Is a Default Repressor of Cardiac Toll-Like Receptor Genes. International Journal Of Molecular Sciences 2021, 22: 6649. PMID: 34206257, PMCID: PMC8268263, DOI: 10.3390/ijms22136649.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAge FactorsAnimalsCytokinesDNA-Binding ProteinsGene Expression RegulationImmunity, InnateLipopolysaccharidesMiceMice, Inbred C57BLMyocytes, CardiacSignal TransductionTEA Domain Transcription FactorsToll-Like ReceptorsTranscription FactorsYAP-Signaling ProteinsConceptsToll-like receptorsPattern recognition receptorsTLR genesPro-inflammatory cytokinesPathological stressTLR gene expressionToll-like receptor genesInnate immune responseExpression levelsHeart diseaseImmune responseHippo-YAP signalingRecognition receptorsMouse heartsYAP depletionLuciferase reporter dataReceptor geneTerminal effectorAgeReceptorsHomeostasis maintenanceMolecular mechanismsHeartExpressionExpression patterns