2020
De novo damaging variants associated with congenital heart diseases contribute to the connectome
Ji W, Ferdman D, Copel J, Scheinost D, Shabanova V, Brueckner M, Khokha MK, Ment LR. De novo damaging variants associated with congenital heart diseases contribute to the connectome. Scientific Reports 2020, 10: 7046. PMID: 32341405, PMCID: PMC7184603, DOI: 10.1038/s41598-020-63928-2.Peer-Reviewed Original ResearchMeSH KeywordsConnectomeDNA HelicasesDNA-Binding ProteinsExomeFemaleHeart Defects, CongenitalHistone-Lysine N-MethyltransferaseHomeodomain ProteinsHumansMaleMi-2 Nucleosome Remodeling and Deacetylase ComplexMutationMutation, MissenseMyeloid-Lymphoid Leukemia ProteinNerve Tissue ProteinsProtein Tyrosine Phosphatase, Non-Receptor Type 11Receptor, Notch1ConceptsDe novo variantsNDD genesCardiac patterningDe novo damaging variantsDamaging de novo variantsCHD genesDamaging variantsGenesProtein truncatingGenetic originNovo variantsGene mutationsPatterningRecent studiesDendritic developmentVariantsMutationsNeurogenesisSynaptogenesisBonferroni correction
2012
Human POLB Gene Is Mutated in High Percentage of Colorectal Tumors*
Donigan KA, Sun KW, Nemec AA, Murphy DL, Cong X, Northrup V, Zelterman D, Sweasy JB. Human POLB Gene Is Mutated in High Percentage of Colorectal Tumors*. Journal Of Biological Chemistry 2012, 287: 23830-23839. PMID: 22577134, PMCID: PMC3390656, DOI: 10.1074/jbc.m111.324947.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SubstitutionAnimalsBinding SitesBiocatalysisCell SurvivalCells, CulturedColorectal NeoplasmsDNA Polymerase betaEmbryo, MammalianFibroblastsGenetic Complementation TestHEK293 CellsHumansKineticsMethyl MethanesulfonateMiceMice, KnockoutModels, MolecularMutagensMutationMutation RateNeoplasm StagingProtein Structure, TertiaryConceptsPolB geneGenomic instabilityEnzyme functionBase excision repair functionNonsynonymous amino acid substitutionsExcision repair functionBase excision repairEnzyme activityAmino acid substitutionsCellular transformationExcision repairRepair functionDeficient cellsSequencing studiesAcid substitutionsPol βΒ variantΒ-proteinTissue originHuman colorectal tumorsGenesRegion mutationsHuman tumorsTumorigenesisVariants