Genes and molecular pathways underpinning ciliopathies

JF Reiter, MR Leroux - Nature reviews Molecular cell biology, 2017 - nature.com
Motile and non-motile (primary) cilia are nearly ubiquitous cellular organelles. The
dysfunction of cilia causes diseases known as ciliopathies. The number of reported …

Expanding horizons: ciliary proteins reach beyond cilia

S Yuan, Z Sun - Annual review of genetics, 2013 - annualreviews.org
Once obscure, the cilium has come into the spotlight during the past decade. It is now clear
that aside from generating locomotion by motile cilia, both motile and immotile cilia serve as …

Motile and non‐motile cilia in human pathology: from function to phenotypes

HM Mitchison, EM Valente - The Journal of pathology, 2017 - Wiley Online Library
Ciliopathies are inherited human disorders caused by both motile and non‐motile cilia
dysfunction that form an important and rapidly expanding disease category. Ciliopathies are …

Recent advances in the molecular pathology, cell biology and genetics of ciliopathies

M Adams, UM Smith, CV Logan… - Journal of medical …, 2008 - jmg.bmj.com
Primary cilia have a broad tissue distribution and are present on most cell types in the
human body. Until recently, they were considered to be redundant organelles, but progress …

The transition zone: an essential functional compartment of cilia

K Szymanska, CA Johnson - Cilia, 2012 - Springer
Recent studies of the primary cilium have begun to provide further insights into ciliary
ultrastructure, with an emerging picture of complex compartmentalization and molecular …

Clinical and genetic heterogeneity of primary ciliopathies

IO Focșa, M Budișteanu… - … journal of molecular …, 2021 - spandidos-publications.com
Ciliopathies comprise a group of complex disorders, with involvement of the majority of
organs and systems. In total,> 180 causal genes have been identified and, in addition to …

The primary cilium as a cellular signaling center: lessons from disease

MA Lancaster, JG Gleeson - Current opinion in genetics & development, 2009 - Elsevier
Genetic diseases known as ciliopathies have recently entered the limelight, placing new
importance on a previously mysterious organelle: the primary cilium. Mutations affecting the …

Ciliary biology: understanding the cellular and genetic basis of human ciliopathies

M Cardenas‐Rodriguez… - American Journal of …, 2009 - Wiley Online Library
Motile cilia have long been known to play a role in processes such as cell locomotion and
fluid movement whereas the functions of primary cilia have remained obscure until recent …

[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 …

Scoring a backstage pass: mechanisms of ciliogenesis and ciliary access

FR Garcia-Gonzalo, JF Reiter - Journal of Cell Biology, 2012 - rupress.org
Cilia are conserved, microtubule-based cell surface projections that emanate from basal
bodies, membrane-docked centrioles. The beating of motile cilia and flagella enables cells …