Results 41 to 50 of about 11,057 (243)
Clinical Liver Disease, 2021 Content available: Author Interview and Audio Recording.
Jessica Wen +3 more
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Journal of Medical Genetics, 2022 Background The 100 000 Genomes Project (100K) recruited National Health Service patients with eligible rare diseases and cancer between 2016 and 2018.
Sunayna Best +18 more
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Mouse models of ciliopathies: the state of the art
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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Clinical and genetic heterogeneity of primary ciliopathies (Review)
International Journal of Molecular Medicine, 2021 Ciliopathies comprise a group of complex disorders, with involvement of the majority of organs and systems. In total, >180 causal genes have been identified and, in addition to Mendelian inheritance, oligogenicity, genetic modifications, epistatic ...
I. Focșa +2 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.
Katsutoshi Mizuno +2 more
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Tectonic Proteins Are Important Players in Non-Motile Ciliopathies
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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Insights Gained From Zebrafish Models for the Ciliopathy Joubert Syndrome
Frontiers in Genetics, 2022 Cilia are quasi-ubiquitous microtubule-based sensory organelles, which play vital roles in signal transduction during development and cell homeostasis.
Tamara D. S. Rusterholz +5 more
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Pediatrics Research International Journal, 2015 Cilia are hair-like organelles that extend from the surface of almost all human cells. Nine doublet microtubule pairs make up the core of each cilium, known as the axoneme. Cilia are classified as motile or immotile; non motile or primary cilia are involved in sensing the extracellular environment. These organelles mediate perception of chemo-, mechano-
Pilar Codoñer-Franch +2 more
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Ciliopathies: Coloring outside of the lines [PDF]
American Journal of Medical Genetics Part A, 2020 AbstractCiliopathy syndromes are a diverse spectrum of disease characterized by a combination of cystic kidney disease, hepatobiliary disease, retinopathy, skeletal dysplasia, developmental delay, and brain malformations. Though generally divided into distinct disease categories based on the pattern of system involvement, ciliopathy syndromes are known
Hakon Hakonarson +18 more
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Nephronophthisis-Associated Ciliopathies [PDF]
Journal of the American Society of Nephrology, 2007 Nephronophthisis (NPHP), an autosomal recessive cystic kidney disease, represents the most frequent genetic cause of end-stage kidney disease in the first three decades of life. Contrary to polycystic kidney disease, NPHP shows normal or diminished kidney size, cysts are concentrated at the corticomedullary junction, and tubulointerstitial fibrosis is ...
Weibin Zhou, Friedhelm Hildebrandt
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