2017
Population diversity of the genetically determined TTR expression in human tissues and its implications in TTR amyloidosis
Iorio A, De Angelis F, Di Girolamo M, Luigetti M, Pradotto LG, Mazzeo A, Frusconi S, My F, Manfellotto D, Fuciarelli M, Polimanti R. Population diversity of the genetically determined TTR expression in human tissues and its implications in TTR amyloidosis. BMC Genomics 2017, 18: 254. PMID: 28335735, PMCID: PMC5364715, DOI: 10.1186/s12864-017-3646-1.Peer-Reviewed Original ResearchConceptsGenotype-phenotype correlationHuman populationComplex genotype-phenotype correlationsFamilial amyloidotic cardiomyopathyTTR expressionTTR amyloidosisGTEx projectGenome ProjectSkeletal muscle tissueAncestral groupsAncestry diversityRelevant tissuesScandinavian populationsAmyloidotic cardiomyopathyPopulation diversityAncestry groupsExpressionHuman tissuesDiversityMuscle tissueHereditary diseasePolygenic scoresTissueClinical variabilityLesser extent
2016
Can 99mTc-Pyrophosphate Aid in Early Detection of Cardiac Involvement in Asymptomatic Variant TTR Amyloidosis?
Haq M, Pawar S, Berk JL, Miller EJ, Ruberg FL. Can 99mTc-Pyrophosphate Aid in Early Detection of Cardiac Involvement in Asymptomatic Variant TTR Amyloidosis? JACC Cardiovascular Imaging 2016, 10: 713-714. PMID: 27568122, PMCID: PMC5318295, DOI: 10.1016/j.jcmg.2016.06.003.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAged, 80 and overAmyloid Neuropathies, FamilialAsymptomatic DiseasesCardiomyopathiesDisease ProgressionEarly DiagnosisFemaleGenetic Predisposition to DiseaseHeart FailureHumansMaleMiddle AgedMutationPhenotypePrealbuminPredictive Value of TestsRadionuclide ImagingRadiopharmaceuticalsTechnetium Tc 99m Pyrophosphate
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