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 …

Cellular signalling by primary cilia in development, organ function and disease

Z Anvarian, K Mykytyn, S Mukhopadhyay… - Nature Reviews …, 2019 - nature.com
Primary cilia project in a single copy from the surface of most vertebrate cell types; they
detect and transmit extracellular cues to regulate diverse cellular processes during …

[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 …

Establishing and regulating the composition of cilia for signal transduction

MV Nachury, DU Mick - Nature reviews Molecular cell biology, 2019 - nature.com
The primary cilium is a hair-like surface-exposed organelle of the eukaryotic cell that
decodes a variety of signals—such as odorants, light and Hedgehog morphogens—by …

Renal plasticity revealed through reversal of polycystic kidney disease in mice

K Dong, C Zhang, X Tian, D Coman, F Hyder, M Ma… - Nature …, 2021 - nature.com
Initiation of cyst formation in autosomal dominant polycystic kidney disease (ADPKD) occurs
when kidney tubule cells are rendered null for either PKD1 or PKD2 by somatic 'second …

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 …

Structure of the human PKD1-PKD2 complex

Q Su, F Hu, X Ge, J Lei, S Yu, T Wang, Q Zhou, C Mei… - Science, 2018 - science.org
INTRODUCTION Mutations in two genes, PKD1 and PKD2, are responsible for about 85 and
10% of all cases of autosomal dominant polycystic kidney disease (ADPKD), one of the most …

Mechanism and regulation of centriole and cilium biogenesis

DK Breslow, AJ Holland - Annual review of biochemistry, 2019 - annualreviews.org
The centriole is an ancient microtubule-based organelle with a conserved nine-fold
symmetry. Centrioles form the core of centrosomes, which organize the interphase …

[HTML][HTML] Ciliary beating compartmentalizes cerebrospinal fluid flow in the brain and regulates ventricular development

EW Olstad, C Ringers, JN Hansen, A Wens, C Brandt… - Current Biology, 2019 - cell.com
Motile cilia are miniature, propeller-like extensions, emanating from many cell types across
the body. Their coordinated beating generates a directional fluid flow, which is essential for …

Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype

SR Senum, YSM Li, KA Benson, G Joli… - The American Journal of …, 2022 - cell.com
Autosomal dominant polycystic kidney disease (ADPKD), characterized by progressive cyst
formation/expansion, results in enlarged kidneys and often end stage kidney disease …