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Renal Pathology of Ciliopathies
Pediatric and Developmental PathologyRenal ciliopathies are a group of genetic disorders that affect the function of the primary cilium in the kidney, as well as other organs. Since primary cilia are important for regulation of cell signaling pathways, ciliary dysfunction results in a range of clinical manifestations, including renal failure, cyst formation, and hypertension.
Thivya, Sekar, Neil J, Sebire
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Abstract Ciliopathies refer to a collection of disorders caused by defects in the formation or function of the primary cilium. The clinical manifestations of ciliopathies are broadly overlapping, yet highly variable. Syndromic ciliopathies, including Bardet-Biedl syndrome (BBS), Joubert syndrome (JBTS), Usher syndrome, and Senior-Løken ...
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Nephronophthisis-Related Ciliopathies.
2023Item does not contain ...
Stokman, M.F., Lilien, M., Knoers, N.
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Multimerization of Zika Virus-NS5 Causes Ciliopathy and Forces Premature Neurogenesis
Cell Stem Cell, 2020Murielle Saade +2 more
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TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum
Nature Genetics, 2011Qi Zhang, Qin Liu, Bill H Diplas
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Genes and molecular pathways underpinning ciliopathies
Nature Reviews Molecular Cell Biology, 2017Jeremy F Reiter, Michel R Leroux
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Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy
Nature Genetics, 2010Edgar A Otto, Toby W Hurd, Rannar Airik
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