A pathogenic variant of TULP3 causes renal and hepatic fibrocystic disease

Patient variants in Tubby Like Protein-3 (TULP3) have recently been associated with progressive fibrocystic disease in tissues and organs. TULP3 is a ciliary trafficking protein that links membrane-associated proteins to the intraflagellar transport complex A. In mice, mutations in Tulp3 drive pheno...

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Detalles Bibliográficos
Autores principales: Jafari Khamirani, Hossein, Palicharla, Vivek Reddy, Dastgheib, Seyed Alireza, Dianatpour, Mehdi, Imanieh, Mohammad Hadi, Tabei, Seyed Sajjad, Besse, Whitney, Mukhopadhyay, Saikat, Liem, Karel F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9585244/
https://www.ncbi.nlm.nih.gov/pubmed/36276950
http://dx.doi.org/10.3389/fgene.2022.1021037

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9585244/
https://www.ncbi.nlm.nih.gov/pubmed/36276950
http://dx.doi.org/10.3389/fgene.2022.1021037

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