A pathogenic variant of TULP3 causes renal and hepatic fibrocystic disease
Khamirani H, Palicharla VR, Dastgheib SA, Dianatpour M, Imanieh MH, Tabei SS, Besse W, Mukhopadhyay S, Liem KF. A pathogenic variant of TULP3 causes renal and hepatic fibrocystic disease. Frontiers In Genetics 2022, 13: 1021037. PMID: 36276950, PMCID: PMC9585244, DOI: 10.3389/fgene.2022.1021037.Peer-Reviewed Original ResearchTubby-like protein 3Tubby domainPatient variantsC-terminal tubby domainAssociate with phosphoinositidesRecessive deleterious mutationsMembrane-associated proteinsInner medullary collecting duct 3 cellsDuct 3 cellsHomozygous missense mutationConserved domainsProtein traffickingIntraflagellar transportTrafficking proteinsDeleterious mutationsPatient mutationsCritical residuesMissense mutationsTULP3Pathogenic variantsLike protein 3Phenotypic spectrumMutationsCiliary dysfunctionProtein 3