2023
A 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
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