Results 21 to 30 of about 9,546 (191)
Golgi Dysfunctions in Ciliopathies
Cells, 2022 The Golgi apparatus (GA) is essential for intracellular sorting, trafficking and the targeting of proteins to specific cellular compartments. Anatomically, the GA spreads all over the cell but is also particularly enriched close to the base of the ...
Justine Masson, Vincent El Ghouzzi
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Mouse models of ciliopathies: the state of the art [PDF]
Disease Models & Mechanisms, 2012 The ciliopathies are an apparently disparate group of human diseases that all result from defects in the formation and/or function of cilia. They include disorders such as Meckel-Grüber syndrome (MKS), Joubert syndrome (JBTS), Bardet-Biedl syndrome (BBS)
Dominic P. Norris, Daniel T. Grimes
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Primary cilia-associated protein IFT172 in ciliopathies [PDF]
Frontiers in Cell and Developmental Biology, 2023 Cilium is a highly conserved antenna-like structure protruding from the surface of the cell membrane, which is widely distributed on most mammalian cells. Two types of cilia have been described so far which include motile cilia and immotile cilia and the
Nan-Xi Zheng +7 more
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Tectonic Proteins Are Important Players in Non-Motile Ciliopathies [PDF]
Cellular Physiology and Biochemistry, 2018 Primary cilium is a ubiquitous, tiny organelle on the apex of the mammalian cells. Non-motile (primary) ciliopathies are diseases caused by the dysfunction of the primary cilium and they are characterized by diverse clinical and genetic heterogeneity. To
Siyi Gong +5 more
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Primary cilia and actin regulatory pathways in renal ciliopathies
Frontiers in NephrologyCiliopathies are a group of rare genetic disorders caused by defects to the structure or function of the primary cilium. They often affect multiple organs, leading to brain malformations, congenital heart defects, and anomalies of the retina or skeletal ...
Elena Torban
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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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Broadening horizons: Pathogenesis and therapeutics of renal ciliopathies. [PDF]
J Cell Commun SignalThis review elucidates the molecular mechanisms and aberrant signaling pathways in renal ciliopathies, links genetic heterogeneity to clinical phenotypes, and lays a theoretical basis for prenatal diagnosis and novel therapies. Abstract Renal ciliopathies encompass a spectrum of genetic disorders arising from structural or functional impairments of ...
Zhang Q +7 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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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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