2024
Update in genetic and epigenetic causes of hypertension
Mani A. Update in genetic and epigenetic causes of hypertension. Cellular And Molecular Life Sciences 2024, 81: 201. PMID: 38691164, PMCID: PMC11062952, DOI: 10.1007/s00018-024-05220-4.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesProtein-coding sequencesGWAS-identified lociGWAS-identified genesHuman Genome ProjectEpigenetic mechanism of actionActual genesGenome ProjectAssociation studiesGenetic variationPolygenic formsGenetic basisGenetic variantsEpigenetic mechanismsHeritable diseaseEpigenetic causesPolygenic causeGenesLociPotential targetMechanism of actionManagement of blood pressurePRDM6SequenceVariants
2023
From mouse to human
Mani A. From mouse to human. ELife 2023, 12: e94382. PMID: 38060304, PMCID: PMC10703438, DOI: 10.7554/elife.94382.Peer-Reviewed Original ResearchShared Lifestyle‐Related Risk Factors of Cardiovascular Disease and Cancer: Evidence for Joint Prevention
Masoudkabir F, Mohammadifard N, Mani A, Ignaszewski A, Davis M, Vaseghi G, Mansourian M, Franco C, Gotay C, Sarrafzadegan N. Shared Lifestyle‐Related Risk Factors of Cardiovascular Disease and Cancer: Evidence for Joint Prevention. The Scientific World JOURNAL 2023, 2023: 2404806. PMID: 37520844, PMCID: PMC10386903, DOI: 10.1155/2023/2404806.Peer-Reviewed Original ResearchFKBP14 kyphoscoliotic Ehlers–Danlos syndrome misdiagnosed as Larsen syndrome: a case report
Wiegand A, Kastury R, Neogi A, Mani A, Bale A, Cox A. FKBP14 kyphoscoliotic Ehlers–Danlos syndrome misdiagnosed as Larsen syndrome: a case report. Molecular Case Studies 2023, 9: a006281. PMID: 37433679, PMCID: PMC10393184, DOI: 10.1101/mcs.a006281.Peer-Reviewed Original ResearchConceptsHereditary connective tissue disordersConnective tissue disordersKyphoscoliotic Ehlers-Danlos syndromeTissue disordersEhlers-Danlos syndromeLarsen syndromeClinical diagnosisGenetic testingHereditary cancer predisposition syndromesSignificant vascular eventsPremenopausal breast cancerPast medical historyHomozygous pathogenic variantCancer predisposition syndromeWhole-exome sequencingMolecular genetic testingCardiovascular eventsCarotid dissectionVascular eventsCardiovascular manifestationsCase reportMedical historyRecent diagnosisBreast cancerEarly diagnosisDysregulation of Lipid and Glucose Metabolism in Nonalcoholic Fatty Liver Disease
Bhat N, Mani A. Dysregulation of Lipid and Glucose Metabolism in Nonalcoholic Fatty Liver Disease. Nutrients 2023, 15: 2323. PMID: 37242206, PMCID: PMC10222271, DOI: 10.3390/nu15102323.Peer-Reviewed Original ResearchConceptsFatty liver diseaseLiver diseaseHepatocellular carcinomaAlcoholic fatty liver diseaseNonalcoholic fatty liver diseaseInsulin-resistant liverDiet-induced steatosisCurrent therapeutic effortsDysregulation of lipidAccumulation of lipidsHepatic fatPrevalent conditionSevere stagesGenetic predispositionGlucose metabolismHealthcare costsEconomic burdenTherapeutic effortsDiseaseNAFLDCanonical insulinSteatosisLiverCirrhosisSteatohepatitisA Form of Metabolic-Associated Fatty Liver Disease Associated with a Novel LIPA Variant
Anushiravani A, Khamirani H, Mohamadkhani A, Mani A, Dianatpour M, Malekzadeh R. A Form of Metabolic-Associated Fatty Liver Disease Associated with a Novel LIPA Variant. Archives Of Iranian Medicine 2023, 26: 86-91. PMID: 37543928, PMCID: PMC10685898, DOI: 10.34172/aim.2023.14.Peer-Reviewed Original ResearchConceptsFatty liver diseaseVibration-controlled transient elastographyLiver diseaseLysosomal acid lipaseHomozygous missense variantCholesteryl ester storage diseaseWhole-exome sequencingMissense variantsLiver Disease AssociatedBody mass indexRoutine laboratory testsHigh cholesterol levelsSanger sequencingIranian familyFamily membersNovel missense variantLiPA resultsNASH cirrhosisSevere dyslipidemiaFatty liverMass indexDisease AssociatedCholesterol levelsTransient elastographyCirrhosis
2022
Major Adverse Limb Events Among Patients with Premature Peripheral Artery Disease Compared with Those at the Common Age Undergoing Revascularization in the Vascular Quality Initiative
Kim TI, Loh S, DeWan A, Murray M, Mojibian H, Mani A, Mena-Hurtado C, Ochoa Chaar CI. Major Adverse Limb Events Among Patients with Premature Peripheral Artery Disease Compared with Those at the Common Age Undergoing Revascularization in the Vascular Quality Initiative. Annals Of Vascular Surgery 2022, 87: 188-197. PMID: 35926786, DOI: 10.1016/j.avsg.2022.07.007.Peer-Reviewed Original ResearchConceptsMajor adverse limb eventsChronic limb-threatening ischemiaLower extremity revascularizationAdverse limb eventsVascular Quality InitiativePeripheral artery diseaseYears of ageCommon ageLimb eventsArtery diseaseOutcomes of patientsLimb-threatening ischemiaGroup of patientsInsulin-dependent diabetesProportional hazards regressionQuality InitiativeUndergoing revascularizationMedical optimizationCurrent smokersD diseaseExtremity revascularizationPatient agePatients 60Medical therapyHazards regressionComplex regulation of fatty liver disease
Ginsberg HN, Mani A. Complex regulation of fatty liver disease. Science 2022, 376: 247-248. PMID: 35420931, PMCID: PMC9619413, DOI: 10.1126/science.abp8276.Peer-Reviewed Original ResearchPDE4DIP 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 rateDyrk1b promotes hepatic lipogenesis by bypassing canonical insulin signaling and directly activating mTORC2 in mice
Bhat N, Narayanan A, Fathzadeh M, Kahn M, Zhang D, Goedeke L, Neogi A, Cardone RL, Kibbey RG, Fernandez-Hernando C, Ginsberg HN, Jain D, Shulman G, Mani A. Dyrk1b promotes hepatic lipogenesis by bypassing canonical insulin signaling and directly activating mTORC2 in mice. Journal Of Clinical Investigation 2022, 132: e153724. PMID: 34855620, PMCID: PMC8803348, DOI: 10.1172/jci153724.Peer-Reviewed Original ResearchConceptsDe novo lipogenesisNonalcoholic steatohepatitisInsulin resistanceHepatic lipogenesisElevated de novo lipogenesisNonalcoholic fatty liver diseaseFatty liver diseaseLiver of patientsHepatic glycogen storageHigh-sucrose dietHepatic insulin resistanceFatty acid uptakeMetabolic syndromeLiver diseaseHepatic steatosisTriacylglycerol secretionNovo lipogenesisHepatic insulinTherapeutic targetImpaired activationAcid uptakeGlycogen storageMouse liverLiverLipogenesisDoes Opium Consumption Have Shared Impact on Atherosclerotic Cardiovascular Disease and Cancer?
Masoudkabir F, Malekzadeh R, Yavari N, Zendehdel K, Mani A, Vasheghani-Farahani A, Ignaszewski A, Toma M, Roayaei P, Turk-Adawi K, Sarrafzadegan N. Does Opium Consumption Have Shared Impact on Atherosclerotic Cardiovascular Disease and Cancer? Archives Of Iranian Medicine 2022, 25: 50-63. PMID: 35128912, DOI: 10.34172/aim.2022.08.Peer-Reviewed Original ResearchConceptsAtherosclerotic cardiovascular diseaseRisk factorsOpium consumptionOpium abuseCardiovascular diseaseRisk of ASCVDLifestyle-related risk factorsASCVD risk factorsInadequate physical activityExcessive alcohol consumptionTypes of cancerKinds of cancersPotential carcinogenic effectsDiabetes mellitusPathophysiologic mechanismsOpium abusersUnhealthy dietPhysical activityCurrent evidenceAlcohol consumptionHeart attackCancerCarcinogenic effectsPoor controlDisease
2021
How Are Epigenetic Modifications Related to Cardiovascular Disease in Older Adults?
Gharipour M, Mani A, Baghbahadorani M, de Souza Cardoso CK, Jahanfar S, Sarrafzadegan N, de Oliveira C, Silveira EA. How Are Epigenetic Modifications Related to Cardiovascular Disease in Older Adults? International Journal Of Molecular Sciences 2021, 22: 9949. PMID: 34576113, PMCID: PMC8470616, DOI: 10.3390/ijms22189949.Peer-Reviewed Original ResearchEpistatic 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 substitutionKindredsPDE4DAssociation of vitamins, minerals, and lead with lipoprotein(a) in a cross-sectional cohort of US adults.
Brandt EJ, Brandt DJ, Desai NR, Spatz ES, Nasir K, Mani A. Association of vitamins, minerals, and lead with lipoprotein(a) in a cross-sectional cohort of US adults. International Journal For Vitamin And Nutrition Research 2021, 93: 99-110. PMID: 34024154, PMCID: PMC8964024, DOI: 10.1024/0300-9831/a000709.Peer-Reviewed Original ResearchConceptsCategorical variablesVitamin B12Association of vitaminElevated vitamin B12Whole blood leadCross-sectional cohortMultivariable linear regressionContinuous variablesSerum vitaminTransferrin saturationNational HealthRBC folateUS adultsLDLVitamin ANutrition statusSimilar associationRetinyl estersCohortMultiple sensitivity testsFurther studiesB12VitaminAssociationFolateThe significance of plasma collagen degradation products as biomarkers for advanced hypertensive heart disease
Mani K, Mani A. The significance of plasma collagen degradation products as biomarkers for advanced hypertensive heart disease. Journal Of Clinical Hypertension 2021, 23: 1017-1019. PMID: 33932079, PMCID: PMC8357153, DOI: 10.1111/jch.14205.Peer-Reviewed Original ResearchIdentification of homozygous mutations for hearing loss
Dianatpour M, Smith E, Hashemi SB, Farazifard MA, Nezafat N, Razban V, Mani A. Identification of homozygous mutations for hearing loss. Gene 2021, 778: 145464. PMID: 33524517, PMCID: PMC7987747, DOI: 10.1016/j.gene.2021.145464.Peer-Reviewed Original ResearchConceptsAutosomal recessive nonsyndromic deafnessWhole-exome sequencingEfficacy of WESHomozygous mutationGenetic screeningSanger sequencingCause of deafnessConsanguineous unionsNew pathogenic mutationsCommon sensory disorderMissense mutationsHigh prevalenceSensory disordersHomozygous missense mutationIranian populationEarly screeningNovel therapeuticsSingle gene disordersExome sequencingMajor genetic componentESRRB genePathogenic mutationsSpectrum of genesFuture genetic screeningRecessive fashionA meta-analysis of microRNA expression profiling studies in heart failure
Gholaminejad A, Zare N, Dana N, Shafie D, Mani A, Javanmard SH. A meta-analysis of microRNA expression profiling studies in heart failure. Heart Failure Reviews 2021, 26: 997-1021. PMID: 33443726, DOI: 10.1007/s10741-020-10071-9.Peer-Reviewed Original Research
2020
The role of Wnt signalling in development of coronary artery disease and its risk factors
Liu Y, Neogi A, Mani A. The role of Wnt signalling in development of coronary artery disease and its risk factors. Open Biology 2020, 10: 200128. PMID: 33081636, PMCID: PMC7653355, DOI: 10.1098/rsob.200128.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsApoptosisBiomarkersCarrier ProteinsCell DifferentiationCell MovementCoronary Artery DiseaseDisease SusceptibilityEndotheliumGene Expression RegulationHumansLipid MetabolismMacrophage ActivationMacrophagesMyocytes, Smooth MuscleProtein BindingRisk FactorsWnt ProteinsWnt Signaling PathwayConceptsCoronary artery diseaseArtery diseaseRole of WntVascular smooth muscle cellsEndothelial cell dysfunctionReduced blood flowLow-density lipoproteinModified low-density lipoproteinWnt pathwaySmooth muscle cellsNon-canonical Wnt/CaAggregation of monocytesTissue-resident macrophagesChest painEndothelial dysfunctionWnt/CaHeart failureLuminal narrowingCascade of eventsPathophysiological mechanismsMyocardial infarctionRisk factorsHeart diseaseCell dysfunctionInflammatory reactionLipoprotein(a) levels and association with myocardial infarction and stroke in a nationally representative cross-sectional US cohort
Brandt EJ, Mani A, Spatz ES, Desai NR, Nasir K. Lipoprotein(a) levels and association with myocardial infarction and stroke in a nationally representative cross-sectional US cohort. Journal Of Clinical Lipidology 2020, 14: 695-706.e4. PMID: 32739333, PMCID: PMC7641964, DOI: 10.1016/j.jacl.2020.06.010.Peer-Reviewed Original Research
2019
Global longitudinal strain imaging and its utility in assessing risk in early stages of hypertension
Mani A. Global longitudinal strain imaging and its utility in assessing risk in early stages of hypertension. Journal Of Clinical Hypertension 2019, 21: 1711-1712. PMID: 31553521, PMCID: PMC8030360, DOI: 10.1111/jch.13703.Peer-Reviewed Original Research