A pathogenic variant of TULP3 causes renal and hepatic fibrocystic disease

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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Bibliographic Details
Main Authors: Hossein Jafari Khamirani, Vivek Reddy Palicharla, Seyed Alireza Dastgheib, Mehdi Dianatpour, Mohammad Hadi Imanieh, Seyed Sajjad Tabei, Whitney Besse, Saikat Mukhopadhyay, Karel F. Liem
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-10-01
Series:Frontiers in Genetics
Subjects:
cilia
tubby domain
cyst
fibrosis
PKD
liver
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.1021037/full

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