Mouse models of ciliopathies: the state of the art
The ciliopathies are an apparently disparate group of human diseases that all result from
defects in the formation and/or function of cilia. They include disorders such as Meckel …
defects in the formation and/or function of cilia. They include disorders such as Meckel …
Modeling ciliopathies: Primary cilia in development and disease
Primary (nonmotile) cilia are currently enjoying a renaissance in light of novel ascribed
functions ranging from mechanosensory to signal transduction. Their importance for key …
functions ranging from mechanosensory to signal transduction. Their importance for key …
[HTML][HTML] Modeling human disease in humans: the ciliopathies
G Novarino, N Akizu, JG Gleeson - Cell, 2011 - cell.com
Soon, the genetic basis of most human Mendelian diseases will be solved. The next
challenge will be to leverage this information to uncover basic mechanisms of disease and …
challenge will be to leverage this information to uncover basic mechanisms of disease and …
The ciliopathies: an emerging class of human genetic disorders
Cilia and flagella are ancient, evolutionarily conserved organelles that project from cell
surfaces to perform diverse biological roles, including whole-cell locomotion; movement of …
surfaces to perform diverse biological roles, including whole-cell locomotion; movement of …
Specialized cilia in mammalian sensory systems
N Falk, M Lösl, N Schröder, A Gießl - Cells, 2015 - mdpi.com
Cilia and flagella are highly conserved and important microtubule-based organelles that
project from the surface of eukaryotic cells and act as antennae to sense extracellular …
project from the surface of eukaryotic cells and act as antennae to sense extracellular …
Conserved genetic interactions between ciliopathy complexes cooperatively support ciliogenesis and ciliary signaling
LE Yee, FR Garcia-Gonzalo, RV Bowie, C Li… - PLoS …, 2015 - journals.plos.org
Mutations in genes encoding cilia proteins cause human ciliopathies, diverse disorders
affecting many tissues. Individual genes can be linked to ciliopathies with dramatically …
affecting many tissues. Individual genes can be linked to ciliopathies with dramatically …
Making sense of cilia in disease: the human ciliopathies
Ubiquitous in nature, cilia and flagella comprise nearly identical structures with similar
functions. The most obvious example of the latter is motility: driving movement of the …
functions. The most obvious example of the latter is motility: driving movement of the …
Zebrafish as a model for human ciliopathies
Cilia, microtubule-based structures found on the surface of almost all vertebrate cells, play
an array of diverse biological functions. Abnormal ciliary axonemal structure and function …
an array of diverse biological functions. Abnormal ciliary axonemal structure and function …
Zebrafish assays of ciliopathies
NA Zaghloul, N Katsanis - Methods in cell biology, 2011 - Elsevier
In light of the growing list of human disorders associated with their dysfunction, primary cilia
have recently come to attention as being important regulators of developmental signaling …
have recently come to attention as being important regulators of developmental signaling …