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Network-based framework for studying etiology and phenotype diversity in primary ciliopathies
Aarts E +11 more
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Nature Reviews Disease Primers, 2020 Motile cilia are highly complex hair-like organelles of epithelial cells lining the surface of various organ systems. Genetic mutations (usually with autosomal recessive inheritance) that impair ciliary beating cause a variety of motile ciliopathies, a heterogeneous group of rare disorders. The pathogenetic mechanisms, clinical symptoms and severity of
Julia Wallmeier +2 more
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Molecular genetics of renal ciliopathies.
Biochemical Society Transactions, 2021 Renal ciliopathies are a heterogenous group of inherited disorders leading to an array of phenotypes that include cystic kidney disease and renal interstitial fibrosis leading to progressive chronic kidney disease and end-stage kidney disease.
Miguel Barroso-Gil, E. Olinger, J. Sayer
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Transport and barrier mechanisms that regulate ciliary compartmentalization and ciliopathies
Nature Reviews Nephrology, 2023Laura Louzao-Martinez +2 more
exaly +2 more sources
Deciphering cilia and ciliopathies using proteomic approaches
The FEBS Journal, 2022Cilia are microtubule‐based organelles that protrude from the cell surface and play crucial roles in cellular signaling pathways and extracellular fluid movement.
Xiying Chen +4 more
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