2025
Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes
Sierant M, Jin S, Bilguvar K, Morton S, Dong W, Jiang W, Lu Z, Li B, López-Giráldez F, Tikhonova I, Zeng X, Lu Q, Choi J, Zhang J, Nelson-Williams C, Knight J, Zhao H, Cao J, Mane S, Sedore S, Gruber P, Lek M, Goldmuntz E, Deanfield J, Giardini A, Mital S, Russell M, Gaynor J, King E, Wagner M, Srivastava D, Shen Y, Bernstein D, Porter G, Newburger J, Seidman J, Roberts A, Yandell M, Yost H, Tristani-Firouzi M, Kim R, Chung W, Gelb B, Seidman C, Brueckner M, Lifton R. Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes. Proceedings Of The National Academy Of Sciences Of The United States Of America 2025, 122: e2420343122. PMID: 40127276, PMCID: PMC12002227, DOI: 10.1073/pnas.2420343122.Peer-Reviewed Original ResearchConceptsCongenital heart disease genesCongenital heart diseaseDamaging variantsMissense variantsAnalyzing de novo mutationsCHD probandsEpidermal growth factor (EGF)-like domainsNeurodevelopmental delayLoss of function variantsParent-offspring triosSyndromic congenital heart diseaseHeart disease genesDisease genesGenomic analysisCongenital heart disease subtypesAssociated with neurodevelopmental delayTetralogy of FallotFunctional variantsIncomplete penetranceCHD phenotypesGenesAssociated with developmentGenetic testingMolecular diagnosticsExtracardiac abnormalities
2024
Divergent role of Mitochondrial Amidoxime Reducing Component 1 (MARC1) in human and mouse
Smagris E, Shihanian L, Mintah I, Bigdelou P, Livson Y, Brown H, Verweij N, Hunt C, Johnson R, Greer T, Hartford S, Hindy G, Sun L, Nielsen J, Halasz G, Lotta L, Murphy A, Sleeman M, Gusarova V. Divergent role of Mitochondrial Amidoxime Reducing Component 1 (MARC1) in human and mouse. PLOS Genetics 2024, 20: e1011179. PMID: 38437227, PMCID: PMC10939284, DOI: 10.1371/journal.pgen.1011179.Peer-Reviewed Original ResearchConceptsAssociation studiesExome-wide association studyHuman genome-wide association studiesGenome-wide association studiesLoss of function variantsFamily enzymesMissense variantsObserved phenotypesFunctional variantsAberrant localizationProtein instabilityAncestry groupsHepatic triglyceride accumulationDivergent rolesLiver phenotypePhysiological functionsTriglyceride accumulationPhenotypeDeletionMouse liverIn vitro studiesHepatic cellsProteinEnzymeKnockout mice
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