Primary cilia as dynamic and diverse signalling hubs in development and disease

P Mill, ST Christensen, LB Pedersen - Nature Reviews Genetics, 2023 - nature.com
Primary cilia, antenna-like sensory organelles protruding from the surface of most vertebrate
cell types, are essential for regulating signalling pathways during development and adult …

[HTML][HTML] Ciliopathies and the kidney: a review

DJ McConnachie, JL Stow, AJ Mallett - American Journal of Kidney …, 2021 - Elsevier
Primary cilia are specialized sensory organelles that protrude from the apical surface of most
cell types. Over the past two decades, they have been found to play important roles in tissue …

Signaling through the primary cilium

G Wheway, L Nazlamova, JT Hancock - Frontiers in cell and …, 2018 - frontiersin.org
The presence of single, non-motile “primary” cilia on the surface of epithelial cells has been
well described since the 1960s. However, for decades these organelles were believed to be …

Primary cilia and mammalian hedgehog signaling

F Bangs, KV Anderson - Cold Spring Harbor …, 2017 - cshperspectives.cshlp.org
It has been a decade since it was discovered that primary cilia have an essential role in
Hedgehog (Hh) signaling in mammals. This discovery came from screens in the mouse that …

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 …

Ciliopathies

DA Braun, F Hildebrandt - Cold Spring Harbor …, 2017 - cshperspectives.cshlp.org
Nephronophthisis-related ciliopathies (NPHP-RC) are a group of inherited diseases that
affect genes encoding proteins that localize to primary cilia or centrosomes. With few …

Ciliopathies

F Hildebrandt, T Benzing… - New England Journal of …, 2011 - Mass Medical Soc
Ciliopathies | New England Journal of Medicine Skip to main content The New England Journal
of Medicine homepage Advanced Search SEARCH SPECIALTIES Cardiology Clinical Medicine …

The primary cilium: a signalling centre during vertebrate development

SC Goetz, KV Anderson - Nature Reviews Genetics, 2010 - nature.com
The primary cilium has recently stepped into the spotlight, as a flood of data show that this
organelle has crucial roles in vertebrate development and human genetic diseases. Cilia …

Ciliopathies: an expanding disease spectrum

AM Waters, PL Beales - Pediatric nephrology, 2011 - Springer
Ciliopathies comprise a group of disorders associated with genetic mutations encoding
defective proteins, which result in either abnormal formation or function of cilia. As cilia are a …

A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition

FR Garcia-Gonzalo, KC Corbit, MS Sirerol-Piquer… - Nature …, 2011 - nature.com
Mutations affecting ciliary components cause ciliopathies. As described here, we
investigated Tectonic1 (Tctn1), a regulator of mouse Hedgehog signaling, and found that it is …