[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 …

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 …

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 …

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 …

Clinical and genetic heterogeneity of primary ciliopathies

IO Focşa, M Budişteanu… - … 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 …

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 …

Scrutinizing ciliopathies by unraveling ciliary interaction networks

J van Reeuwijk, HH Arts… - Human molecular …, 2011 - academic.oup.com
Research of cilia has gained significant momentum in the last 15 years, as an increasing
number of human genetic diseases were found to be caused by disruption of a protein that …

Cilia and development

V Sreekumar, DP Norris - Current opinion in genetics & development, 2019 - Elsevier
The role of mammalian cilia in cell signalling was first identified in embryonic development
and subsequent analysis has revealed roles in multiple signalling pathways. We now …