2023
CFAP45, a heterotaxy and congenital heart disease gene, affects cilia stability
Deniz E, Pasha M, Guerra M, Viviano S, Ji W, Konstantino M, Jeffries L, Lakhani S, Medne L, Skraban C, Krantz I, Khokha M. CFAP45, a heterotaxy and congenital heart disease gene, affects cilia stability. Developmental Biology 2023, 499: 75-88. PMID: 37172641, PMCID: PMC10373286, DOI: 10.1016/j.ydbio.2023.04.006.Peer-Reviewed Original ResearchConceptsLeft-right organizerCilia stabilityLeft-right patterningCongenital heart disease genesApical surfaceCell apical surfaceLive confocal imagingLeftward fluid flowHeart disease genesRecessive missense mutationLethal birth defectMotile monociliaProtein familyEarly embryogenesisMulticiliated cellsCiliary axonemeDisease genesFrog embryosGenetic underpinningsWhole-exome sequencingMissense mutationsConfocal imagingEmbryosCiliaCongenital heart disease
2022
Discovering the Function of Congenital Heart Disease Genes
González D, Khokha M. Discovering the Function of Congenital Heart Disease Genes. 2022, 233-244. DOI: 10.1201/9781003050230-19.Peer-Reviewed Original ResearchLarger brood sizesCongenital heart disease genesCommon congenital birth defectHeart disease genesCongenital heart diseaseLeft-right axisCHD genesCell biologistsOrgan situsBrood sizeLeft-right asymmetryDe novo mutationsDisease genesSequencing studiesBirth defectsCongenital birth defectsGenetic diseasesGenesNovo mutationsDisease mechanismsStructural cardiac abnormalitiesNovel de novo mutationHeart diseaseCardiac abnormalitiesCardiac structure