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- W3046626682 abstract "The primary cilium is a ubiquitous microtubule-based organelle that senses external environment and modulates diverse signaling pathways in different cell types and tissues. The cilium originates from the mother centriole through a complex set of cellular events requiring hundreds of distinct components. Aberrant ciliogenesis or ciliary transport leads to a broad spectrum of clinical entities with overlapping yet highly variable phenotypes, collectively called ciliopathies, which include sensory defects and syndromic disorders with multi-organ pathologies. For efficient light detection, photoreceptors in the retina elaborate a modified cilium known as the outer segment, which is packed with membranous discs enriched for components of the phototransduction machinery. Retinopathy phenotype involves dysfunction and/or degeneration of the light sensing photoreceptors and is highly penetrant in ciliopathies. This review will discuss primary cilia biogenesis and ciliopathies, with a focus on the retina, and the role of CP110-CEP290-CC2D2A network. We will also explore how recent technologies can advance our understanding of cilia biology and discuss new paradigms for developing potential therapies of retinal ciliopathies." @default.
- W3046626682 created "2020-08-07" @default.
- W3046626682 creator A5000884606 @default.
- W3046626682 creator A5039510197 @default.
- W3046626682 creator A5050544784 @default.
- W3046626682 creator A5063296047 @default.
- W3046626682 date "2021-02-01" @default.
- W3046626682 modified "2023-10-16" @default.
- W3046626682 title "Primary cilia biogenesis and associated retinal ciliopathies" @default.
- W3046626682 cites W1139420029 @default.
- W3046626682 cites W1483496013 @default.
- W3046626682 cites W1513413810 @default.
- W3046626682 cites W1771227799 @default.
- W3046626682 cites W1778246902 @default.
- W3046626682 cites W1835374993 @default.
- W3046626682 cites W1858547598 @default.
- W3046626682 cites W1863838513 @default.
- W3046626682 cites W1868261797 @default.
- W3046626682 cites W1912159341 @default.
- W3046626682 cites W1912876688 @default.
- W3046626682 cites W1963718985 @default.
- W3046626682 cites W1965755863 @default.
- W3046626682 cites W1967030247 @default.
- W3046626682 cites W1970264904 @default.
- W3046626682 cites W1974550507 @default.
- W3046626682 cites W1974781876 @default.
- W3046626682 cites W1977901488 @default.
- W3046626682 cites W1978324226 @default.
- W3046626682 cites W1978538263 @default.
- W3046626682 cites W1979002070 @default.
- W3046626682 cites W1981682592 @default.
- W3046626682 cites W1982833228 @default.
- W3046626682 cites W1983514209 @default.
- W3046626682 cites W1983575054 @default.
- W3046626682 cites W1986855190 @default.
- W3046626682 cites W1988928475 @default.
- W3046626682 cites W1990436838 @default.
- W3046626682 cites W1991915917 @default.
- W3046626682 cites W1992799596 @default.
- W3046626682 cites W1992858116 @default.
- W3046626682 cites W1993697025 @default.
- W3046626682 cites W1994048440 @default.
- W3046626682 cites W1994617186 @default.
- W3046626682 cites W1997153608 @default.
- W3046626682 cites W2000205353 @default.
- W3046626682 cites W2005026998 @default.
- W3046626682 cites W2006980881 @default.
- W3046626682 cites W2009432227 @default.
- W3046626682 cites W2010358621 @default.
- W3046626682 cites W2011675447 @default.
- W3046626682 cites W2012022940 @default.
- W3046626682 cites W2015234820 @default.
- W3046626682 cites W2015674245 @default.
- W3046626682 cites W2015788406 @default.
- W3046626682 cites W2019012747 @default.
- W3046626682 cites W2019213498 @default.
- W3046626682 cites W2019298465 @default.
- W3046626682 cites W2022160583 @default.
- W3046626682 cites W2023366075 @default.
- W3046626682 cites W2023843317 @default.
- W3046626682 cites W2024971608 @default.
- W3046626682 cites W2028155117 @default.
- W3046626682 cites W2028827939 @default.
- W3046626682 cites W2033799985 @default.
- W3046626682 cites W2034972401 @default.
- W3046626682 cites W2035327107 @default.
- W3046626682 cites W2035630628 @default.
- W3046626682 cites W2036253239 @default.
- W3046626682 cites W2036505824 @default.
- W3046626682 cites W2037566946 @default.
- W3046626682 cites W2041492989 @default.
- W3046626682 cites W2041964741 @default.
- W3046626682 cites W2046008146 @default.
- W3046626682 cites W2046297486 @default.
- W3046626682 cites W2049633713 @default.
- W3046626682 cites W2050281909 @default.
- W3046626682 cites W2051747007 @default.
- W3046626682 cites W2052381976 @default.
- W3046626682 cites W2054954402 @default.
- W3046626682 cites W2059753989 @default.
- W3046626682 cites W2064966510 @default.
- W3046626682 cites W2065349725 @default.
- W3046626682 cites W2066034930 @default.
- W3046626682 cites W2066312160 @default.
- W3046626682 cites W2072058100 @default.
- W3046626682 cites W2072560959 @default.
- W3046626682 cites W2072567708 @default.
- W3046626682 cites W2072895299 @default.
- W3046626682 cites W2073947789 @default.
- W3046626682 cites W2074458710 @default.
- W3046626682 cites W2079588165 @default.
- W3046626682 cites W2081267113 @default.
- W3046626682 cites W2086790354 @default.
- W3046626682 cites W2088135594 @default.
- W3046626682 cites W2091122220 @default.
- W3046626682 cites W2091684557 @default.
- W3046626682 cites W2092513547 @default.
- W3046626682 cites W2093012794 @default.