Mouse models of ciliopathies: the state of the art

DP Norris, DT Grimes - Disease models & mechanisms, 2012 - journals.biologists.com
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 …

Modeling ciliopathies: Primary cilia in development and disease

RJ Quinlan, JL Tobin, PL Beales - Current topics in developmental biology, 2008 - Elsevier
Primary (nonmotile) cilia are currently enjoying a renaissance in light of novel ascribed
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 …

The ciliopathies: an emerging class of human genetic disorders

JL Badano, N Mitsuma, PL Beales… - Annu. Rev. Genomics …, 2006 - annualreviews.org
Cilia and flagella are ancient, evolutionarily conserved organelles that project from cell
surfaces to perform diverse biological roles, including whole-cell locomotion; movement of …

[HTML][HTML] The nonmotile ciliopathies

JL Tobin, PL Beales - Genetics in Medicine, 2009 - Elsevier
Over the last 5 years, disorders of nonmotile cilia have come of age and their study has
contributed immeasurably to our understanding of cell biology and human genetics. This …

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 …

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 …

Making sense of cilia in disease: the human ciliopathies

K Baker, PL Beales - American journal of medical genetics part …, 2009 - Wiley Online Library
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 …

Zebrafish as a model for human ciliopathies

Z Song, X Zhang, S Jia, PC Yelick, C Zhao - Journal of Genetics and …, 2016 - Elsevier
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 …

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 …