Matches in SemOpenAlex for { <https://semopenalex.org/work/W4308104733> ?p ?o ?g. }
- W4308104733 abstract "Motile and non-motile cilia are associated with mutually-exclusive genetic disorders. Motile cilia propel sperm or extracellular fluids, and their dysfunction causes primary ciliary dyskinesia. Non-motile cilia serve as sensory/signalling antennae on most cell types, and their disruption causes single-organ ciliopathies such as retinopathies or multi-system syndromes. CFAP20 is a ciliopathy candidate known to modulate motile cilia in unicellular eukaryotes. We demonstrate that in zebrafish, cfap20 is required for motile cilia function, and in C. elegans, CFAP-20 maintains the structural integrity of non-motile cilia inner junctions, influencing sensory-dependent signalling and development. Human patients and zebrafish with CFAP20 mutations both exhibit retinal dystrophy. Hence, CFAP20 functions within a structural/functional hub centered on the inner junction that is shared between motile and non-motile cilia, and is distinct from other ciliopathy-associated domains or macromolecular complexes. Our findings suggest an uncharacterised pathomechanism for retinal dystrophy, and potentially for motile and non-motile ciliopathies in general." @default.
- W4308104733 created "2022-11-08" @default.
- W4308104733 creator A5002667996 @default.
- W4308104733 creator A5003048867 @default.
- W4308104733 creator A5005526067 @default.
- W4308104733 creator A5007549481 @default.
- W4308104733 creator A5008409333 @default.
- W4308104733 creator A5008723999 @default.
- W4308104733 creator A5008780949 @default.
- W4308104733 creator A5009197434 @default.
- W4308104733 creator A5009253078 @default.
- W4308104733 creator A5009530521 @default.
- W4308104733 creator A5010443784 @default.
- W4308104733 creator A5011869835 @default.
- W4308104733 creator A5013910686 @default.
- W4308104733 creator A5014458985 @default.
- W4308104733 creator A5014597161 @default.
- W4308104733 creator A5016511222 @default.
- W4308104733 creator A5017238513 @default.
- W4308104733 creator A5020080514 @default.
- W4308104733 creator A5021709237 @default.
- W4308104733 creator A5022393909 @default.
- W4308104733 creator A5022457689 @default.
- W4308104733 creator A5023430588 @default.
- W4308104733 creator A5027079581 @default.
- W4308104733 creator A5028668594 @default.
- W4308104733 creator A5029354348 @default.
- W4308104733 creator A5031592364 @default.
- W4308104733 creator A5032810944 @default.
- W4308104733 creator A5033721426 @default.
- W4308104733 creator A5034347591 @default.
- W4308104733 creator A5035101584 @default.
- W4308104733 creator A5038131406 @default.
- W4308104733 creator A5039014067 @default.
- W4308104733 creator A5039633676 @default.
- W4308104733 creator A5039916547 @default.
- W4308104733 creator A5040035281 @default.
- W4308104733 creator A5040127668 @default.
- W4308104733 creator A5042721662 @default.
- W4308104733 creator A5044451478 @default.
- W4308104733 creator A5044755722 @default.
- W4308104733 creator A5045553488 @default.
- W4308104733 creator A5046092979 @default.
- W4308104733 creator A5047435332 @default.
- W4308104733 creator A5047785675 @default.
- W4308104733 creator A5048005458 @default.
- W4308104733 creator A5048271276 @default.
- W4308104733 creator A5049565387 @default.
- W4308104733 creator A5051307930 @default.
- W4308104733 creator A5052723889 @default.
- W4308104733 creator A5053154938 @default.
- W4308104733 creator A5055284086 @default.
- W4308104733 creator A5056156268 @default.
- W4308104733 creator A5056273880 @default.
- W4308104733 creator A5056744774 @default.
- W4308104733 creator A5058385239 @default.
- W4308104733 creator A5061349790 @default.
- W4308104733 creator A5061578095 @default.
- W4308104733 creator A5061790199 @default.
- W4308104733 creator A5062194841 @default.
- W4308104733 creator A5062534223 @default.
- W4308104733 creator A5063495458 @default.
- W4308104733 creator A5065495238 @default.
- W4308104733 creator A5066428890 @default.
- W4308104733 creator A5066580354 @default.
- W4308104733 creator A5066948418 @default.
- W4308104733 creator A5067453012 @default.
- W4308104733 creator A5068162021 @default.
- W4308104733 creator A5069927916 @default.
- W4308104733 creator A5070615219 @default.
- W4308104733 creator A5071459991 @default.
- W4308104733 creator A5072894526 @default.
- W4308104733 creator A5073153621 @default.
- W4308104733 creator A5074976938 @default.
- W4308104733 creator A5077011636 @default.
- W4308104733 creator A5078032321 @default.
- W4308104733 creator A5078058754 @default.
- W4308104733 creator A5079465068 @default.
- W4308104733 creator A5080904546 @default.
- W4308104733 creator A5082031977 @default.
- W4308104733 creator A5083800658 @default.
- W4308104733 creator A5086631630 @default.
- W4308104733 creator A5088008941 @default.
- W4308104733 creator A5088269508 @default.
- W4308104733 creator A5088604298 @default.
- W4308104733 creator A5088727176 @default.
- W4308104733 creator A5089416199 @default.
- W4308104733 creator A5089630665 @default.
- W4308104733 creator A5090291315 @default.
- W4308104733 creator A5091132026 @default.
- W4308104733 creator A5091596735 @default.
- W4308104733 date "2022-11-03" @default.
- W4308104733 modified "2023-10-15" @default.
- W4308104733 title "The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision" @default.
- W4308104733 cites W118771962 @default.
- W4308104733 cites W1481957127 @default.
- W4308104733 cites W1542375787 @default.
- W4308104733 cites W1570988136 @default.
- W4308104733 cites W1587592813 @default.
- W4308104733 cites W1599843882 @default.