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 …
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 …
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 …
human body. Until recently, they were considered to be redundant organelles, but progress …
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 …
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 …
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 …
importance on a previously mysterious organelle: the primary cilium. Mutations affecting the …
Genes and molecular pathways underpinning ciliopathies
Motile and non-motile (primary) cilia are nearly ubiquitous cellular organelles. The
dysfunction of cilia causes diseases known as ciliopathies. The number of reported …
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 …
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 …
and subsequent analysis has revealed roles in multiple signalling pathways. We now …