Results 21 to 30 of about 9,758 (194)
Primary cilia as a molecular convergence hub linking neurodevelopment and autism spectrum disorder [PDF]
Frontiers in Cellular NeuroscienceThe primary cilium, a highly conserved microtubule-based organelle, orchestrates a broad repertoire of signal transduction cascades required for embryonic development, tissue homeostasis and cellular communication.
Arianna Boscato +3 more
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Post‐Translational Modifications in Cilia and Ciliopathies
Advanced ScienceCilia are microtubule‐based organelles that extend from the surface of most vertebrate cells, and they play important roles in diverse cellular processes during embryonic development and tissue homeostasis.
Jie Ran, Jun Zhou
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Mechanisms of Nephronophthisis and Related Ciliopathies [PDF]
Nephron Experimental Nephrology, 2010 An emerging group of human genetic diseases termed ‘ciliopathies’ are caused by dysfunction of two functionally and physically associated organelles, the centrosome and cilium. These organelles are central to perception of the physical environment through detection of a diverse variety of extracellular signals such as growth factors, chemicals, light ...
Toby W, Hurd, Friedhelm, Hildebrandt
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Compound Heterozygous Variants in the IFT140 Gene Associated with Skeletal Ciliopathies [PDF]
DiagnosticsCiliopathies are rare congenital disorders caused by defects in the structure or function of cilia, which can lead to a wide range of clinical manifestations. Among them, a subset known as skeletal ciliopathies exhibits significant phenotypic overlap and
Katia Margiotti +10 more
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Within the broad and growing spectrum of human ciliopathies is a range of linked and overlapping disorders that present with skeletal features. These have been coined the skeletal ciliopathies.
Isabella Collins, Angus K. T. Wann
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Ciliary Membrane Lipid Homeostasis in Health and Disease. [PDF]
Adv Sci (Weinh)This review systematically delineates the distinct lipid landscapes of ciliary membranes, including the spatial organization of phosphoinositides, cholesterol, and sphingolipids. It elucidates how these lipids orchestrate ciliogenesis, signal transduction, and membrane dynamics in cilia beating, and highlights how their dysregulation drives ...
Huang Z, Liu YY, Sun H, Liu P.
europepmc +2 more sources
CiliaMiner: an integrated database for Ciliopathy Genes and Ciliopathies
Database, 2022 Abstract Cilia are found in eukaryotic species ranging from single-celled organisms, such as Chlamydomonas reinhardtii , to humans, but not in plants. The ability to respond to repellents and/or attractants, regulate cell proliferation and differentiation, and provide cellular ...
Merve Gül Turan +3 more
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EBioMedicine, 2021 Background: Ciliary dysfunction underlies a range of genetic disorders collectively termed ciliopathies, for which there are no treatments available. Bardet-Biedl syndrome (BBS) is characterised by multisystemic involvement, including rod-cone dystrophy ...
Jonathan Eintracht +3 more
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Cold Spring Harbor Perspectives in Biology, 2016 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 exceptions, ciliopathies are inherited in an autosomal recessive manner, and affected individuals manifest early during childhood or adolescence.
Daniela A, Braun, Friedhelm, Hildebrandt
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Editorial: Genetics and Mechanism of Ciliopathies
Frontiers in Genetics, 2022 Brian Hon Yin Chung
exaly +3 more sources