2023
Inactivation of Invs/Nphp2 in renal epithelial cells drives infantile nephronophthisis like phenotypes in mouse
Li Y, Xu W, Makova S, Brueckner M, Sun Z. Inactivation of Invs/Nphp2 in renal epithelial cells drives infantile nephronophthisis like phenotypes in mouse. ELife 2023, 12: e82395. PMID: 36920028, PMCID: PMC10154023, DOI: 10.7554/elife.82395.Peer-Reviewed Original ResearchConceptsFlox/Valproic acidRenal fibrosisCyst formationEnd-stage renal diseaseMutant miceHistone deacetylase inhibitor valproic acidKidney function declineStage renal diseaseCell proliferationInhibitor valproic acidEpithelial-stromal crosstalkKnockout mouse modelRenal cyst formationCyst burdenRenal diseaseFunction declineInterstitial fibrosisDisease progressionStromal fibrosisTargeted therapyInfantile nephronophthisisMouse modelMyofibroblast activationRenal epithelial cells
2021
A change of heart: new roles for cilia in cardiac development and disease
Djenoune L, Berg K, Brueckner M, Yuan S. A change of heart: new roles for cilia in cardiac development and disease. Nature Reviews Cardiology 2021, 19: 211-227. PMID: 34862511, PMCID: PMC10161238, DOI: 10.1038/s41569-021-00635-z.Peer-Reviewed Original ResearchConceptsCongenital heart diseaseHeart diseaseCardiac valve disordersAortic valve diseaseMitral valve prolapseCardiac developmentValve diseaseValve prolapseMyocardial fibrosisValve disordersCardiac abnormalitiesPresence of ciliaCardiac fibroblastsCilia functionContractile forceDiseaseFunction contributesLines of evidenceDefective primary ciliaPotential roleHeart regenerationBroader roleHeartDisordersLatest findings