The Genetics of Primary Ciliary Dyskinesia - Advances and Limitations. [PDF]
Horani A.
europepmc +1 more source
CiliaKB: A comprehensive knowledge base for cilia-associated genes. [PDF]
Liu CJ +6 more
europepmc +1 more source
From Usher syndrome to Bardet-Biedl syndrome: Diagnosis after an atypical presentation. [PDF]
Milheiro J +5 more
europepmc +1 more source
Using mouse models to investigate ciliopathies
Cilia and flagella are microtubule based organelles found on nearly every cell type in the mammalian body. Flagella have an essential role in sperm locomotion and reproduction, while motile cilia have a known role in fluid movement in the brain, lungs ...
Pasek, Raymond Carl
core
Insights into Human Ciliopathies: Gene Silencing of <i>ropn1l</i> and <i>tex9</i> in <i>Schmidtea</i> <i>mediterranea</i> Indicate Association with Ciliary Structure and Motility. [PDF]
Pitt R +4 more
europepmc +1 more source
Research Hotspots and Trends in Ciliopathies: A Bibliometric and Visualization Analysis. [PDF]
Dong Q, Zhu J, Liu J, Xu H.
europepmc +1 more source
Pathophysiological significance of cholesterol in ciliopathies. [PDF]
Itabashi T +7 more
europepmc +1 more source
Linking primary cilia defects to the "Big 3" neurodegenerative diseases - causal, consequential, or correlative? [PDF]
Hor CHH, Tang BL.
europepmc +1 more source
Clinical and Genetic Characterization of a Patient With SEC63-Related Autosomal Dominant Polycystic Liver Disease and an IFT140 Pathogenic Variant Associated With Polycystic Kidney Disease. [PDF]
Ortega-Macías AG +4 more
europepmc +1 more source
A goat-derived gamma-tubulin antibody for triple-channel imaging of primary cilia. [PDF]
Karapetian E +7 more
europepmc +1 more source

