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 ResearchMeSH KeywordsAnimalsBody PatterningCiliaHeart Defects, CongenitalHeterotaxy SyndromeMutation, MissensePhenotypeXenopusXenopus ProteinsConceptsLeft-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
2020
Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome
Alharatani R, Ververi A, Beleza-Meireles A, Ji W, Mis E, Patterson QT, Griffin JN, Bhujel N, Chang CA, Dixit A, Konstantino M, Healy C, Hannan S, Neo N, Cash A, Li D, Bhoj E, Zackai EH, Cleaver R, Baralle D, McEntagart M, Newbury-Ecob R, Scott R, Hurst JA, Au PYB, Hosey MT, Khokha M, Marciano DK, Lakhani SA, Liu KJ. Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome. Human Molecular Genetics 2020, 29: 1900-1921. PMID: 32196547, PMCID: PMC7372553, DOI: 10.1093/hmg/ddaa050.Peer-Reviewed Original ResearchConceptsCell-cell junctionsNovel protein-truncating variantsP120-catenin proteinProtein-truncating variantsNext-generation sequencingTranscriptional signalingP120-cateninCRISPR/Epithelial-mesenchymal transitionSubset of phenotypesDevelopmental roleLimb dysmorphologiesAdditional phenotypesHuman diseasesCTNND1Conditional deletionDe novoTruncating mutationsBlepharocheilodontic syndromeEpithelial integrityNovel truncating mutationCraniofacial dysmorphismPhenotypeCleft palateNeurodevelopmental disorders
2006
Caspases 3 and 7: Key Mediators of Mitochondrial Events of Apoptosis
Lakhani SA, Masud A, Kuida K, Porter GA, Booth CJ, Mehal WZ, Inayat I, Flavell RA. Caspases 3 and 7: Key Mediators of Mitochondrial Events of Apoptosis. Science 2006, 311: 847-851. PMID: 16469926, PMCID: PMC3738210, DOI: 10.1126/science.1115035.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsApoptosisApoptosis Inducing FactorBcl-2-Associated X ProteinCaspase 3Caspase 7CaspasesCell NucleusCell ShapeCell SurvivalCells, CulturedCytochromes cDNA FragmentationFemaleFibroblastsHeartHeart Defects, CongenitalMaleMiceMice, Inbred C57BLMice, KnockoutMitochondriaMitochondrial MembranesPermeabilityT-LymphocytesConceptsApoptosis-inducing factorMitochondrial eventsDownstream effector caspasesDeath receptor-mediated apoptosisCytochrome c releaseCaspase-3Receptor-mediated apoptosisDefective nuclear translocationEarly apoptotic eventsMitochondrial membrane potentialEffector caspasesBax translocationC releaseCardiac developmentApoptotic eventsCaspase-7Upstream signalsNuclear translocationApoptosisMembrane potentialCritical mediatorKey mediatorTranslocationCaspasesEffectors