Primary cilia and actin regulatory pathways in renal ciliopathies

Autor: Rita Kalot, Zachary Sentell, Thomas M. Kitzler, Elena Torban

Publikováno v: Frontiers in Nephrology, Vol 3 (2024)

Ciliopathies are a group of rare genetic disorders caused by defects to the structure or function of the primary cilium. They often affect multiple organs, leading to brain malformations, congenital heart defects, and anomalies of the retina or skele

Externí odkaz: https://doaj.org/article/59fa3abad73f40be8822e82583be5d8d

Repurposing small molecules for nephronophthisis and related renal ciliopathies

Autor: Benmerah, Alexandre, Briseño-Roa, Luis, Annereau, Jean-Philippe, Saunier, Sophie

Publikováno v: In Kidney International August 2023 104(2):245-253

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Primary cilia and actin regulatory pathways in renal ciliopathies.

Autor: Kalot R; Department of Medicine and Department of Physiology, McGill University, Montreal, QC, Canada.; The Research Institute of the McGill University Health Center, Montreal, QC, Canada., Sentell Z; Department of Human Genetics, McGill University, Montreal, QC, Canada., Kitzler TM; Department of Human Genetics, McGill University, Montreal, QC, Canada.; McGill University Health Center, Montreal, QC, Canada., Torban E; Department of Medicine and Department of Physiology, McGill University, Montreal, QC, Canada.; The Research Institute of the McGill University Health Center, Montreal, QC, Canada.

Publikováno v: Frontiers in nephrology [Front Nephrol] 2024 Jan 16; Vol. 3, pp. 1331847. Date of Electronic Publication: 2024 Jan 16 (Print Publication: 2023).

Renal ciliopathies

Autor: Devlin, Laura A, Sayer, John A

Publikováno v: In Current Opinion in Genetics & Development June 2019 56:49-60