2022
PDE4DIP in health and diseases
Mani A. PDE4DIP in health and diseases. Cellular Signalling 2022, 94: 110322. PMID: 35346821, PMCID: PMC9618167, DOI: 10.1016/j.cellsig.2022.110322.Peer-Reviewed Original ResearchConceptsSecond messengerClass of enzymesCyclic AMPRecent genetic studiesSpecific cell functionsAnchoring proteinsDynamic microdomainsPathological cardiac remodelingExcitation-contraction couplingIntracellular targetingSpecific proteinsGenetic studiesCell survivalIntracellular messengerStimulating pathwaysCAMP-dependent phosphodiesteraseHeart failureDiverse classAtrial fibrillationCardiac remodelingInjury resultsPredominant isoformFunction of organsConduction velocityHeart rate
2021
Epistatic interaction of PDE4DIP and DES mutations in familial atrial fibrillation with slow conduction
Ziki M, Bhat N, Neogi A, Driscoll TP, Ugwu N, Liu Y, Smith E, Abboud JM, Chouairi S, Schwartz MA, Akar JG, Mani A. Epistatic interaction of PDE4DIP and DES mutations in familial atrial fibrillation with slow conduction. Human Mutation 2021, 42: 1279-1293. PMID: 34289528, PMCID: PMC8434967, DOI: 10.1002/humu.24265.Peer-Reviewed Original ResearchConceptsEarly-onset atrial fibrillationAtrial fibrillationHeart blockFamilial atrial fibrillationSlow conductionDES mutationsSlow atrial fibrillationWhole-exome sequencingConduction diseaseIsoproterenol stimulationExome sequencingGenetic causePathogenic mutationsPDE4DIPReduced colocalizationHigh penetranceGenetic screeningUnrelated kindredsFibrillationPKA phosphorylationDesmin geneEpistatic interactionsT substitutionKindredsPDE4D
2020
The pleiotropic effect of a deleterious DES mutation in familial atrial fibrillation and the role of PDE4DIP as a genetic modifier for heart block
Ziki M, Akar J, Neogi A, Abboud J, Choueiri S, Driscoll T, Bhat N, Ugwu N, Liu Y, Smith E, Mani A. The pleiotropic effect of a deleterious DES mutation in familial atrial fibrillation and the role of PDE4DIP as a genetic modifier for heart block. European Heart Journal 2020, 41: ehaa946.0330. DOI: 10.1093/ehjci/ehaa946.0330.Peer-Reviewed Original ResearchEarly-onset atrial fibrillationNon-ischemic cardiomyopathyOnset atrial fibrillationAtrial fibrillationHeart blockFamilial atrial fibrillationWhole-exome sequencingIschemic strokeConduction diseaseDES mutationsCardiac conduction diseaseCommon cardiac arrhythmiaAutosomal dominant patternFamily membersModifier genesPacemaker implantationPleiotropic effectsMutation carriersUnaffected family membersCodon 13Beta-adrenergic receptor phosphorylationCardiac arrhythmiasCardiac conductionCardiomyopathyDES gene
2017
Deleterious protein‐altering mutations in the SCN10A voltage‐gated sodium channel gene are associated with prolonged QT
Ziki M, Seidelmann SB, Smith E, Atteya G, Jiang Y, Fernandes RG, Marieb MA, Akar JG, Mani A. Deleterious protein‐altering mutations in the SCN10A voltage‐gated sodium channel gene are associated with prolonged QT. Clinical Genetics 2017, 93: 741-751. PMID: 28407228, PMCID: PMC5640462, DOI: 10.1111/cge.13036.Peer-Reviewed Original ResearchConceptsLong QT syndromeSCN10A mutationsWhole-exome sequencingVoltage-gated sodium channel geneCongenital long QT syndromeHistory of palpitationsQT prolonging medicationsLife-threatening complicationsIdiopathic long QT syndromeProtein-altering mutationsSodium channel geneConfirmatory Sanger sequencingMutation burden analysisGenetic programAtrial fibrillationIdentifiable causeProlonged QTChannel genesMutation carriersArrhythmia genesQT syndromeGenesLQTS genesFrameshift mutationGenetic cause