2021
A change of heart: new roles for cilia in cardiac development and disease
Djenoune L, Berg K, Brueckner M, Yuan S. A change of heart: new roles for cilia in cardiac development and disease. Nature Reviews Cardiology 2021, 19: 211-227. PMID: 34862511, PMCID: PMC10161238, DOI: 10.1038/s41569-021-00635-z.Peer-Reviewed Original ResearchConceptsCongenital heart diseaseHeart diseaseCardiac valve disordersAortic valve diseaseMitral valve prolapseCardiac developmentValve diseaseValve prolapseMyocardial fibrosisValve disordersCardiac abnormalitiesPresence of ciliaCardiac fibroblastsCilia functionContractile forceDiseaseFunction contributesLines of evidenceDefective primary ciliaPotential roleHeart regenerationBroader roleHeartDisordersLatest findings
2020
Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects
Edwards JJ, Rouillard AD, Fernandez NF, Wang Z, Lachmann A, Shankaran SS, Bisgrove BW, Demarest B, Turan N, Srivastava D, Bernstein D, Deanfield J, Giardini A, Porter G, Kim R, Roberts AE, Newburger JW, Goldmuntz E, Brueckner M, Lifton RP, Seidman CE, Chung WK, Tristani-Firouzi M, Yost HJ, Ma’ayan A, Gelb BD. Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects. JACC Basic To Translational Science 2020, 5: 376-386. PMID: 32368696, PMCID: PMC7188873, DOI: 10.1016/j.jacbts.2020.01.012.Peer-Reviewed Original ResearchSmall GTPaseSpecific molecular functionsWAVE2 complexMolecular functionsCHD genesSignal transductionComplex proteinsHeart disease pathogenesisCardiac developmentCausative variantsGenetic variantsGTPaseNovo variantsGenesDisease pathogenesisPrimary driverVariantsWAVE2TransductionComplexesKnockdownRegulatorProteinRegulationPathogenesis