2023
FKBP14 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 diagnosisA 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 regressionPrdm6 controls heart development by regulating neural crest cell differentiation and migration
Hong L, Li N, Gasque V, Mehta S, Ye L, Wu Y, Li J, Gewies A, Ruland J, Hirschi KK, Eichmann A, Hendry C, van Dijk D, Mani A. Prdm6 controls heart development by regulating neural crest cell differentiation and migration. JCI Insight 2022, 7: e156046. PMID: 35108221, PMCID: PMC8876496, DOI: 10.1172/jci.insight.156046.Peer-Reviewed Original ResearchConceptsCardiac NCCNeural crest cell fateNeural crest cell differentiationSingle-cell RNA-seq analysisRNA-seq analysisDorsal neural tubeG1-S progressionFate-mapping approachCNCC migrationSpecification genesH4K20 monomethylationCell fateTranscriptomic analysisEpigenetic modifiersHeart developmentRegulated networkTranscript levelsKey regulatorMolecular mechanismsCell differentiationNeural tubePRDM6Ductus arteriosusPotential targetDifferentiation
2021
Identification 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 fashion
2020
Lipoprotein(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
CELA2A mutations predispose to early-onset atherosclerosis and metabolic syndrome and affect plasma insulin and platelet activation
Esteghamat F, Broughton JS, Smith E, Cardone R, Tyagi T, Guerra M, Szabó A, Ugwu N, Mani MV, Azari B, Kayingo G, Chung S, Fathzadeh M, Weiss E, Bender J, Mane S, Lifton RP, Adeniran A, Nathanson MH, Gorelick FS, Hwa J, Sahin-Tóth M, Belfort-DeAguiar R, Kibbey RG, Mani A. CELA2A mutations predispose to early-onset atherosclerosis and metabolic syndrome and affect plasma insulin and platelet activation. Nature Genetics 2019, 51: 1233-1243. PMID: 31358993, PMCID: PMC6675645, DOI: 10.1038/s41588-019-0470-3.Peer-Reviewed Original ResearchConceptsEarly-onset atherosclerosisMetabolic syndromeMetabolic syndrome traitsWhole-exome sequence analysisAttractive therapeutic targetPlatelet hyperactivationInsulin levelsPlasma insulinPlasma levelsInsulin sensitivityInsulin secretionTherapeutic targetPlatelet activationDisease mechanismsSyndrome traitsAtherosclerosisFunction mutationsSyndromeNovel lossInsulinMutationsSecretion
2017
Addition of Estradiol to Cross-Sex Testosterone Therapy Reduces Atherosclerosis Plaque Formation in Female ApoE−/− Mice
Goetz TG, Mamillapalli R, Sahin C, Majidi-Zolbin M, Ge G, Mani A, Taylor HS. Addition of Estradiol to Cross-Sex Testosterone Therapy Reduces Atherosclerosis Plaque Formation in Female ApoE−/− Mice. Endocrinology 2017, 159: 754-762. PMID: 29253190, PMCID: PMC5774248, DOI: 10.1210/en.2017-00884.Peer-Reviewed Original ResearchConceptsAtherosclerosis plaque formationLow-dose estradiolPlaque formationTestosterone therapyLesion progressionCross-sex hormone therapyEstradiol-treated miceLow-dose estrogenAtherosclerotic lesion progressionEffects of estrogenContribution of estradiolOil Red O stainAtherosclerosis lesion progressionAddition of estradiolWeeks of ageEstradiol therapyCardiovascular outcomesHormone therapyAortic sinusFemale ApoEAtherosclerosis progressionReduced atherosclerosisCombined therapyAortic archAtherosclerosis RiskDeleterious 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 causeApplication of Whole Exome Sequencing in the Clinical Diagnosis and Management of Inherited Cardiovascular Diseases in Adults
Seidelmann SB, Smith E, Subrahmanyan L, Dykas D, Abou Ziki MD, Azari B, Hannah-Shmouni F, Jiang Y, Akar JG, Marieb M, Jacoby D, Bale AE, Lifton RP, Mani A. Application of Whole Exome Sequencing in the Clinical Diagnosis and Management of Inherited Cardiovascular Diseases in Adults. Circulation Genomic And Precision Medicine 2017, 10: e001573. PMID: 28087566, PMCID: PMC5245580, DOI: 10.1161/circgenetics.116.001573.Peer-Reviewed Original ResearchConceptsWhole-exome sequencingSudden cardiac deathCardiovascular diseaseClinical diagnosisExome sequencingCardiac deathInherited cardiovascular diseaseCentre of careNovel candidate genesValuable screening toolAdult patientsRisk stratificationPrimary insultCardiac functionGenetic testingScreening toolDiagnosisCVD genesGenetic causeCardiovascular geneticsGenetic panelSuccess rateExome databasesPotential disease associationsPatients
2016
Mutations in the Histone Modifier PRDM6 Are Associated with Isolated Nonsyndromic Patent Ductus Arteriosus
Li N, Subrahmanyan L, Smith E, Yu X, Zaidi S, Choi M, Mane S, Nelson-Williams C, Behjati M, Kazemi M, Hashemi M, Fathzadeh M, Narayanan A, Tian L, Montazeri F, Mani M, Begleiter ML, Coon BG, Lynch HT, Olson EN, Zhao H, Ruland J, Lifton RP, Mani A. Mutations in the Histone Modifier PRDM6 Are Associated with Isolated Nonsyndromic Patent Ductus Arteriosus. American Journal Of Human Genetics 2016, 98: 1082-1091. PMID: 27181681, PMCID: PMC4908195, DOI: 10.1016/j.ajhg.2016.03.022.Peer-Reviewed Original ResearchConceptsVascular smooth muscle cellsHistone methyl transferase activityWhole-exome sequencingGenome-wide linkage analysisWild-type proteinPatent ductus arteriosusMethyl transferase activityEpigenetic regulationLoss of functionTranscriptional suppressorNuclear proteinsPremature differentiationMethyltransferase activityCommon congenital heart defectUndifferentiated stageIndependent mutationsDuctus arteriosusLinkage analysisIntracellular redistributionNumber of VSMCsPRDM6Smooth muscle cellsProteinMutationsDisease mechanisms
2014
Plasma Cardiotrophin‐1 Levels are Associated With Hypertensive Heart Disease: A Meta‐Analysis
Song K, Wang S, Huang B, Luciano A, Srivastava R, Mani A. Plasma Cardiotrophin‐1 Levels are Associated With Hypertensive Heart Disease: A Meta‐Analysis. Journal Of Clinical Hypertension 2014, 16: 686-692. PMID: 25052897, PMCID: PMC4159421, DOI: 10.1111/jch.12376.Peer-Reviewed Original ResearchConceptsCT-1 levelsPlasma CT-1 levelsHypertensive heart diseaseHeart failureLeft ventricular hypertrophyVentricular hypertrophyCardiotrophin-1Hypertensive patientsHeart diseaseHypertension-induced left ventricular hypertrophyCardiotrophin-1 levelsSmall independent studiesHypertension-induced hypertrophyInterleukin-6 cytokineNormotensive patientsSerum levelsSubgroup analysisCardiac hypertrophyNovel biomarkersHypertensionPatientsElectronic databasesHypertrophyMeta-AnalysisStandardized algorithm
2008
Bicuspid aortic valve: clinical approach and scientific review of a common clinical entity
Friedman T, Mani A, Elefteriades JA. Bicuspid aortic valve: clinical approach and scientific review of a common clinical entity. Expert Review Of Cardiovascular Therapy 2008, 6: 235-248. PMID: 18248277, DOI: 10.1586/14779072.6.2.235.Peer-Reviewed Original ResearchConceptsAortic valve diseaseValve diseaseAortic aneurysm/dissectionBicuspid aortic valve diseaseBicuspid valve diseaseCommon clinical entityCongenital cardiac lesionsCommon congenital lesionsSurgical decision makingQuality of lifeAortic insufficiencyAortic stenosisMore morbidityCardiac lesionsClinical entityBAV diseaseCongenital lesionsAortic valveClinical studiesDuration of lifeClinical approachCollagen metabolismClinical issuesTimely interventionDisease