Results 21 to 30 of about 8,699 (199)
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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A Quarter Century of EHD Protein Research: From Endosomal Recycling to Ciliopathies. [PDF]
TrafficHuman EHD protein subcellular localization. ABSTRACT Eps15 homology domain‐containing proteins comprise a conserved family of membrane‐remodeling ATPases that regulate endocytic trafficking, membrane fission, receptor recycling, primary ciliogenesis and membrane dynamics across eukaryotes. Since the initial identification of EHD1 and its Caenorhabditis
Frisby D +3 more
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Liver involvement in children with ciliopathies
Clinics and Research in Hepatology and Gastroenterology, 2014 Abnormalities in primary cilia lead to diseases called ciliopathies. Multiple organ involvement is the norm since primary cilia are present in most cells. When cholangiocyte cilia are abnormal, ductal plate malformation ensues leading to such conditions as congenital hepatic fibrosis, Caroli disease or syndrome, or other fibrocystic disease.
Rock, Nathalie, Mclin, Valérie Anne
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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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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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The nonmotile ciliopathies [PDF]
Genetics in Medicine, 2009 Over the last 5 years, disorders of nonmotile cilia have come of age and their study has contributed immeasurably to our understanding of cell biology and human genetics. This review summarizes the main features of the ciliopathies, their underlying genetics, and the functions of the proteins involved. We describe some of the key findings in the field,
Jonathan L, Tobin, Philip L, Beales
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Editorial: Advances in cilia and flagella research [PDF]
Frontiers in Cell and Developmental BiologyMaureen Wirschell, Lance Lee, Aimin Liu
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A centriole's subdistal appendages: contributions to cell division, ciliogenesis and differentiation [PDF]
Open Biology, 2021 The centrosome is a highly conserved structure composed of two centrioles surrounded by pericentriolar material. The mother, and inherently older, centriole has distal and subdistal appendages, whereas the daughter centriole is devoid of these appendage ...
Nicole A. Hall, Heidi Hehnly
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Clinical Liver Disease, 2021 Content available: Author Interview and Audio Recording.
Tamir Diamond, Noor Nema, Jessica Wen
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Ocular manifestations of renal ciliopathies
, 2023 Renal ciliopathies are a common cause of kidney failure in children and adults, and this study reviewed their ocular associations. Genes affected in renal ciliopathies were identified from the Genomics England Panels.
Heather Mack +9 more
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