2025
Modeling thoracic aortic genetic variants in the zebrafish: useful for predicting clinical pathogenicity?
Prendergast A, Sheppard M, Famulski J, Nicoli S, Mukherjee S, Sips P, Elefteriades J. Modeling thoracic aortic genetic variants in the zebrafish: useful for predicting clinical pathogenicity? Frontiers In Cardiovascular Medicine 2025, 12: 1480407. PMID: 40066353, PMCID: PMC11892108, DOI: 10.3389/fcvm.2025.1480407.Peer-Reviewed Original ResearchPathogenicity of VUSProportion of variantsMedical genetic testingCausal genesPathogenicity assessmentClinical pathogensTested pathogensGenetic variantsCausative genesTAAD casesGenesGenetic defectsGenetic testingThoracic aortic aneurysmHeritable genetic defectsImpact cardiovascular morbidityPathogensVUSAortic aneurysmCardiovascular morbidityVariantsZebrafishTAADClinical applicationEnhance patient care
2020
The Genetics of Thoracic Aortic Aneurysms and Dissection: A Clinical Perspective
Ostberg NP, Zafar MA, Ziganshin BA, Elefteriades JA. The Genetics of Thoracic Aortic Aneurysms and Dissection: A Clinical Perspective. Biomolecules 2020, 10: 182. PMID: 31991693, PMCID: PMC7072177, DOI: 10.3390/biom10020182.Peer-Reviewed Original ResearchConceptsAortic aneurysmThoracic aortic aneurysmHigh mortality rateGenetic screening testsClinical manifestationsSurgical interventionNon-syndromic TAADHigh riskMortality rateClear genetic basisScreening testNatural historyClinical perspectiveTAADDegenerative diseasesDissectionCellular mechanismsBiomechanical stressPatientsAneurysmsDiseaseAortaExtensive investigation
2019
Subacute/chronic type A aortic dissection: a retrospective cohort study
Wu J, Xie E, Qiu J, Huang Y, Jiang W, Zafar MA, Zhang L, Yu C. Subacute/chronic type A aortic dissection: a retrospective cohort study. European Journal Of Cardio-Thoracic Surgery 2019, 57: 388-396. PMID: 31317195, DOI: 10.1093/ejcts/ezz209.Peer-Reviewed Original ResearchConceptsChronic TAADAcute TAADLate survival ratesPropensity scoreAortic dissectionChronic typeClinical presentationSurvival rateRetrospective cohort studyEarly mortality rateCurrent surgical strategiesFifteen patientsMild painChest tightnessCohort studySharp painSurgical treatmentSurgical strategyExcellent outcomesLate outcomesTAADMortality ratePainPatientsTypical symptomsNonsyndromic Thoracic Aortic Aneurysms and Dissections—Is Screening Possible?
Faggion Vinholo T, Zafar MA, Ziganshin BA, Elefteriades JA. Nonsyndromic Thoracic Aortic Aneurysms and Dissections—Is Screening Possible? Seminars In Thoracic And Cardiovascular Surgery 2019, 31: 628-634. PMID: 31212014, DOI: 10.1053/j.semtcvs.2019.05.035.Peer-Reviewed Original ResearchConceptsThoracic aortic aneurysmTAAD patientsAortic aneurysmFatal natural historySerologic screening testsProphylactic surgical interventionNormal life expectancyObvious clinical signsRoutine genetic testingWhole-exome sequencingTAAD casesSurgical interventionClinical signsTimely diagnosisScreening testClinical settingNatural historyGenetic testingTAADExome sequencingDisease-causing genesGenetic mutationsLife expectancyDiagnosisPatientsGenes Associated with Thoracic Aortic Aneurysm and Dissection: 2019 Update and Clinical Implications
Vinholo T, Brownstein AJ, Ziganshin BA, Zafar MA, Kuivaniemi H, Body SC, Bale AE, Elefteriades JA. Genes Associated with Thoracic Aortic Aneurysm and Dissection: 2019 Update and Clinical Implications. Aorta 2019, 07: 099-107. PMID: 31842235, PMCID: PMC6914358, DOI: 10.1055/s-0039-3400233.Peer-Reviewed Original Research
2018
Genes Associated with Thoracic Aortic Aneurysm and Dissection: 2018 Update and Clinical Implications
Brownstein AJ, Kostiuk V, Ziganshin BA, Zafar MA, Kuivaniemi H, Body SC, Bale AE, Elefteriades JA. Genes Associated with Thoracic Aortic Aneurysm and Dissection: 2018 Update and Clinical Implications. Aorta 2018, 06: 013-020. PMID: 30079932, PMCID: PMC6136681, DOI: 10.1055/s-0038-1639612.Peer-Reviewed Original Research
2014
Dysfunctional Mechanosensing in Aneurysms
Humphrey JD, Milewicz DM, Tellides G, Schwartz MA. Dysfunctional Mechanosensing in Aneurysms. Science 2014, 344: 477-479. PMID: 24786066, PMCID: PMC4360903, DOI: 10.1126/science.1253026.Peer-Reviewed Original Research
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