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
2019
Patient-independent human induced pluripotent stem cell model: A new tool for rapid determination of genetic variant pathogenicity in long QT syndrome
Chavali NV, Kryshtal DO, Parikh SS, Wang L, Glazer AM, Blackwell DJ, Kroncke BM, Shoemaker MB, Knollmann BC. Patient-independent human induced pluripotent stem cell model: A new tool for rapid determination of genetic variant pathogenicity in long QT syndrome. Heart Rhythm 2019, 16: 1686-1695. PMID: 31004778, PMCID: PMC6935564, DOI: 10.1016/j.hrthm.2019.04.031.Peer-Reviewed Original ResearchConceptsLong QT syndromeExtracellular field potentialsQT syndromeHiPSC-CMGenetic testingPluripotent stem cell modelsHiPSC modelsSudden cardiac deathStem cell modelUnrelated healthy volunteersVentricular action potentialPatch-clamp studiesNovel missense variantVoltage-dependent inactivationCardiac deathClinical benefitCommercial genetic testingGenetic variant pathogenicityHealthy volunteersCell modelElectrophysiological propertiesAction potentialsBeating rateUnknown significancePatch clamp
2012
Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion
Emre Onat O, Gulsuner S, Bilguvar K, Nazli Basak A, Topaloglu H, Tan M, Tan U, Gunel M, Ozcelik T. Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion. European Journal Of Human Genetics 2012, 21: 281-285. PMID: 22892528, PMCID: PMC3573203, DOI: 10.1038/ejhg.2012.170.Peer-Reviewed Original ResearchConceptsC-terminal transmembrane regionATPase domainNext-generation sequencingTransmembrane regionHomozygous regionsHomozygosity mappingAffected individualsATP8A2Novel missense variantChromosome 13q12Missense mutationsATP8A2 geneSegregation analysisConsanguineous familyMissense variantsUnrelated individualsMutationsMental retardationQuadrupedal locomotionGenesDysequilibrium syndromeSequencingTranslocationATPaseNovo
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