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
2000
Molecular motors: the driving force behind mammalian left–right development
Supp D, Potter S, Brueckner M, Supp D, Potter S, Brueckner M. Molecular motors: the driving force behind mammalian left–right development. Trends In Cell Biology 2000, 10: 41-45. PMID: 10652513, DOI: 10.1016/s0962-8924(99)01701-8.Peer-Reviewed Original ResearchConceptsEarly vertebrate developmentMitotic spindle movementsLarge protein complexesLeft-right developmentLeft-right axisEmbryonic patterningVertebrate developmentProtein complexesCellular processesMicrotubule cytoskeletonVesicular transportSpindle movementsATP hydrolysisMolecular motorsDirectional movementCiliary beatingUnique roleCytoskeletonKinesinPatterningComplexesHydrolysis
1998
Handed asymmetry in the mouse: Understanding how things go right (or left) by studying how they go wrong
Supp D, Brueckner M, Potter S. Handed asymmetry in the mouse: Understanding how things go right (or left) by studying how they go wrong. Seminars In Cell And Developmental Biology 1998, 9: 77-87. PMID: 9572117, DOI: 10.1006/scdb.1997.0186.Peer-Reviewed Original ResearchConceptsSevere morphological defectsAnalysis of genesAsymmetric expression patternLeft/right axisRight patterningGenetic pathwaysMouse mutationExpression patternsMorphological defectsDevelopmental asymmetryVertebratesImportance of regulationMutant micePattern formationRight axisGenesMutationsRegulationPathwayPatterningMiceDisruption