2024
Unraveling the genetic tapestry of pediatric sarcomeric cardiomyopathies and masquerading phenocopies in Jordan
Azab B, Aburizeg D, Shaaban S, Ji W, Mustafa L, Isbeih N, Al-Akily A, Mohammad H, Jeffries L, Khokha M, Lakhani S, Al-Ammouri I. Unraveling the genetic tapestry of pediatric sarcomeric cardiomyopathies and masquerading phenocopies in Jordan. Scientific Reports 2024, 14: 15141. PMID: 38956129, PMCID: PMC11219879, DOI: 10.1038/s41598-024-64921-9.Peer-Reviewed Original ResearchConceptsExome sequencingSarcomere-related genesMitochondrial-related diseasesAt-risk family membersGenetic architectureGenetic landscapePathogenic variantsGene panelPediatric cardiomyopathyMolecular underpinningsGenetic testingPhenocopiesSarcomeric cardiomyopathiesGenesSequenceStorage disorderFamily membersAt-riskVariantsEarly interventionExomeFamilyGlycogen storage disorderHypertrophic cardiomyopathyCardiomyopathy
2008
Rare independent mutations in renal salt handling genes contribute to blood pressure variation
Ji W, Foo JN, O'Roak BJ, Zhao H, Larson MG, Simon DB, Newton-Cheh C, State MW, Levy D, Lifton RP. Rare independent mutations in renal salt handling genes contribute to blood pressure variation. Nature Genetics 2008, 40: 592-599. PMID: 18391953, PMCID: PMC3766631, DOI: 10.1038/ng.118.Peer-Reviewed Original ResearchMeSH KeywordsAdultAmino Acid SequenceAmino Acid SubstitutionBlood PressureCohort StudiesFemaleHeterozygoteHumansHypertensionKidneyMaleMiddle AgedMolecular Sequence DataMutationPotassium Channels, Inwardly RectifyingPrevalenceReceptors, DrugSodium ChlorideSodium-Potassium-Chloride SymportersSolute Carrier Family 12, Member 1Solute Carrier Family 12, Member 3SymportersConceptsIndependent mutationsCommon complex traitsCommon complex diseasesRare recessive diseaseBlood pressure variationComparative genomicsGenetic architectureComplex traitsFramingham Heart StudyTrait lociEffects of allelesRare allelesSignificant blood pressure reductionComplex diseasesBlood pressure reductionCommon variantsDevelopment of hypertensionMutationsAllelesGenesBlood pressureRisk allelesRenal saltRecessive diseaseGeneral population