Results 31 to 40 of about 9,758 (194)
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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Broadening horizons: Pathogenesis and therapeutics of renal ciliopathies. [PDF]
J Cell Commun SignalRenal ciliopathies encompass a spectrum of genetic disorders arising from structural or functional impairments of primary cilia, specialized organelles critical for mechanosensation and signal transduction within renal epithelial cells.
Zhang Q +7 more
europepmc +2 more sources
Current insights into renal ciliopathies: what can genetics teach us? [PDF]
, 2012 Ciliopathies are a group of clinically and genetically overlapping disorders whose etiologies lie in defective cilia. These are antenna-like organelles on the apical surface of numerous cell types in a variety of tissues and organs, the kidney included ...
Nine V. A. M. Knoers +3 more
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International Collaboration in Primary Ciliary Dyskinesia. [PDF]
Pediatr PulmonolABSTRACT Primary Ciliary Dyskinesia (PCD) exemplifies how international collaboration can transform the study of a rare disease. Since the identification of the first PCD‐associated genes in 1999–2002, parallel developments in Europe and North America, driven by patient organizations, academic investigators, and coordinated funding initiatives, have ...
Pennekamp P, Manion M, Omran H.
europepmc +2 more sources
Molecular genetics of renal ciliopathies.
, 2021 Renal ciliopathies are a heterogenous group of inherited disorders leading to an array of phenotypes that include cystic kidney disease and renal interstitial fibrosis leading to progressive chronic kidney disease and end-stage kidney disease.
Olinger, Eric +2 more
core +5 more sources
Klinische Monatsblatter fur Augenheilkunde, 2018 Ciliopathies are disorders caused by ciliary dysfunction and can affect an organ system or tissues. Isolated or syndromic retinal dystrophies are the most common ocular manifestation of ciliopathies. The photoreceptor connecting cilium plays a leading role in these ciliopathy-related retinal dystrophies. Dysfunctional photoreceptor cilia cause the most
Fabien Ho, Francis Fortin
openaire +4 more sources
Clinical Liver Disease, 2021 Content available: Author Interview and Audio Recording.
Tamir Diamond, Noor Nema, Jessica Wen
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Developmental disruptions underlying brain abnormalities in ciliopathies [PDF]
, 2015 Primary cilia are essential conveyors of signals underlying major cell functions. Cerebral cortical progenitors and neurons have a primary cilium.
Hirt, Josua +13 more
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Sperm dysfunction and ciliopathy [PDF]
Reproductive Medicine and Biology, 2015 AbstractSperm motility is driven by motile cytoskeletal elements in the tail, called axonemes. The structure of axonemes consists of 9 + 2 microtubules, molecular motors (dyneins), and their regulatory structures. Axonemes are well conserved in motile cilia and flagella through eukaryotic evolution.
Kazuo, Inaba, Katsutoshi, Mizuno
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X-box promoter motif searches: from to humans to novel candidate ciliopathies [PDF]
, 2015 International audienceCiliary defects are known to cause severe genetic disorders, collectively called ciliopathies. We attempt to identify genes involved in human ciliopathies by making use of the evolutionarily conserved X-box promoter motif recognized
G Lauter +23 more
core +1 more source