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 …

Genetic mechanisms and signaling pathways in autosomal dominant polycystic kidney disease

PC Harris, VE Torres - The Journal of clinical investigation, 2014 - Am Soc Clin Investig
Recent advances in defining the genetic mechanisms of disease causation and modification
in autosomal dominant polycystic kidney disease (ADPKD) have helped to explain some …

Switching on cilia: transcriptional networks regulating ciliogenesis

SP Choksi, G Lauter, P Swoboda, S Roy - Development, 2014 - journals.biologists.com
Cilia play many essential roles in fluid transport and cellular locomotion, and as sensory
hubs for a variety of signal transduction pathways. Despite having a conserved basic …

[HTML][HTML] Chemosensation in C. elegans

CI Bargmann - WormBook: The online review of C. elegans …, 2006 - ncbi.nlm.nih.gov
C. elegans has a highly developed chemosensory system that enables it to detect a wide
variety of volatile (olfactory) and water-soluble (gustatory) cues associated with food …

The ciliopathies: an emerging class of human genetic disorders

JL Badano, N Mitsuma, PL Beales… - Annu. Rev. Genomics …, 2006 - annualreviews.org
Cilia and flagella are ancient, evolutionarily conserved organelles that project from cell
surfaces to perform diverse biological roles, including whole-cell locomotion; movement of …

Loss of cilia suppresses cyst growth in genetic models of autosomal dominant polycystic kidney disease

M Ma, X Tian, P Igarashi, GJ Pazour, S Somlo - Nature genetics, 2013 - nature.com
Kidney cysts occur following inactivation of polycystins in otherwise intact cilia or following
complete removal of cilia by inactivation of intraflagellar transport–related proteins. We …

The polycystic kidney disease proteins, polycystin-1, polycystin-2, polaris, and cystin, are co-localized in renal cilia

BK Yoder, X Hou… - Journal of the American …, 2002 - journals.lww.com
Recent evidence has suggested an association between structural and/or functional defects
in the primary apical cilium of vertebrate epithelia and polycystic kidney disease (PKD). In …

Basal body dysfunction is a likely cause of pleiotropic Bardet–Biedl syndrome

SJ Ansley, JL Badano, OE Blacque, J Hill, BE Hoskins… - Nature, 2003 - nature.com
Bardet–Biedl syndrome (BBS) is a genetically heterogeneous disorder characterized
primarily by retinal dystrophy, obesity, polydactyly, renal malformations and learning …

[HTML][HTML] Tube morphogenesis: making and shaping biological tubes

B Lubarsky, MA Krasnow - Cell, 2003 - cell.com
Many organs are composed of epithelial tubes that transport vital fluids. Such tubular organs
develop in many different ways and generate tubes of widely varying sizes and structures …

Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene

JB Li, JM Gerdes, CJ Haycraft, Y Fan, TM Teslovich… - Cell, 2004 - cell.com
Cilia and flagella are microtubule-based structures nucleated by modified centrioles termed
basal bodies. These biochemically complex organelles have more than 250 and 150 …