Results 11 to 20 of about 9,301 (255)
Joubert Syndrome, A Ciliopathy
Pediatric Neurology Briefs, 2013 Investigators at Neurogenetics Unit, Mendel Laboratory, Rome, and University of Salerno, Italy, review the clinical features and genetic basis of Joubert syndrome, overlap with other ciliopathies, and the multifaceted roles of primary cilia in CNS ...
J Gordon Millichap
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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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Combatting renal ciliopathies [PDF]
Cilia, 2012 A hallmark of many ciliopathies are renal cysts, ultimately disrupting kidney architecture and resulting in end-stage renal disease as the most common cause of mortality. Yet despite being the largest demand for renal replacement therapy (ie. dialysis, kidney transplantation) in young patients, the exact etiology of nephronophthisis (NPHP) and ...
Rachel H. Giles
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Ciliopathies: The Trafficking Connection [PDF]
Traffic, 2014 The primary cilium (PC) is a very dynamic hair‐like membrane structure that assembles/disassembles in a cell‐cycle‐dependent manner and is present in almost every cell type. Despite being continuous with the plasma membrane, a diffusion barrier located at the ciliary base confers the PC properties of a separate organelle with very specific ...
Kayalvizhi Madhivanan +1 more
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CiliaMiner: an integrated database for ciliopathy genes and ciliopathies. [PDF]
Database (Oxford), 2023 AbstractCilia are found in eukaryotic species ranging from single-celled organisms, such asChlamydomonas reinhardtii, to humans, but not in plants. The ability to respond to repellents and/or attractants, regulate cell proliferation and differentiation, and provide cellular mobility are just a few examples of how crucial cilia are to cells and ...
Turan MG, Orhan ME, Cevik S, Kaplan OI.
europepmc +3 more sources
Ciliopathies and the Kidney: A Review [PDF]
American Journal of Kidney Diseases, 2021 Primary cilia are specialized sensory organelles that protrude from the apical surface of most cell types. During the past 2 decades, they have been found to play important roles in tissue development and signal transduction, with mutations in ciliary-associated proteins resulting in a group of diseases collectively known as ciliopathies. Many of these
McConnachie, Dominique J. +2 more
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CYSTIC DISEASE AND CILIOPATHIES [PDF]
Nephrology Dialysis Transplantation, 2014 Junichi Hoshino +45 more
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Nature Reviews Disease Primers, 2020 Motile cilia are highly complex hair-like organelles of epithelial cells lining the surface of various organ systems. Genetic mutations (usually with autosomal recessive inheritance) that impair ciliary beating cause a variety of motile ciliopathies, a heterogeneous group of rare disorders. The pathogenetic mechanisms, clinical symptoms and severity of
Wallmeier, Julia +6 more
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CPLANE Complex and Ciliopathies
Biomolecules, 2022 Primary cilia are non-motile organelles associated with the cell cycle, which can be found in most vertebrate cell types. Cilia formation occurs through a process called ciliogenesis, which involves several mechanisms including planar cell polarity (PCP) and the Hedgehog (Hh) signaling pathway.
Jesús Eduardo Martín-Salazar +1 more
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