2023
KIF6 Trp719Arg Genetic Variant Increases Risk for Thoracic Aortic Dissection
Velasco J, Li Y, Ziganshin B, Zafar M, Rizzo J, Ma D, Zang H, Kalyanasundaram A, Elefteriades J. KIF6 Trp719Arg Genetic Variant Increases Risk for Thoracic Aortic Dissection. Genes 2023, 14: 252. PMID: 36833179, PMCID: PMC9956195, DOI: 10.3390/genes14020252.Peer-Reviewed Original ResearchConceptsThoracic aortic aneurysmAortic dissectionOdds ratioVariant statusArg allele carriersThoracic aortic dissectionOccurrence of ADAortic sizeArg alleleMarked adverse impactTAA patientsAortic aneurysmClinical assessmentSurgical decisionAllele carriersIncrease riskVariant patientsArg carriersPilot studyDissectionImportant intracellular functionsConfirmatory findingsPatientsAneurysmsPresent study
2022
Phenotyping Zebrafish Mutant Models to Assess Candidate Genes Associated with Aortic Aneurysm
Prendergast A, Ziganshin BA, Papanikolaou D, Zafar MA, Nicoli S, Mukherjee S, Elefteriades JA. Phenotyping Zebrafish Mutant Models to Assess Candidate Genes Associated with Aortic Aneurysm. Genes 2022, 13: 123. PMID: 35052463, PMCID: PMC8775119, DOI: 10.3390/genes13010123.Peer-Reviewed Original ResearchConceptsAortic aneurysmSkeletal abnormalitiesThoracic aortic aneurysmWhole-exome sequencingDirect microscopic assessmentSilico genetic analysisVisualized abnormalitiesTAA patientsClinical managementGeneral populationClinical practiceRoutine assessmentClinical testingCell countEvidence-based decisionsUnknown significanceUncertain significanceExperimental modelPilot studyExome sequencingAbnormalitiesMicroscopic assessmentPatientsPositive controlAneurysms