Results 41 to 50 of about 9,546 (191)
Reversal of ciliary mechanisms of disassembly rescues olfactory dysfunction in ciliopathies
JCI Insight, 2022 Ciliopathies are a class of genetic diseases resulting in cilia dysfunction in multiple organ systems, including the olfactory system. Currently, there are no available curative treatments for olfactory dysfunction and other symptoms in ciliopathies. The
Chao Xie +6 more
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ALMS1 Regulates TGF-β Signaling and Morphology of Primary Cilia
Frontiers in Cell and Developmental Biology, 2021 In this study, we aimed to evaluate the role of ALMS1 in the morphology of primary cilia and regulation of cellular signaling using a knockdown model of the hTERT-RPE1 cell line.
María Álvarez-Satta +12 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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Ciliary Genes in Renal Cystic Diseases
Cells, 2020 Cilia are microtubule-based organelles, protruding from the apical cell surface and anchoring to the cytoskeleton. Primary (nonmotile) cilia of the kidney act as mechanosensors of nephron cells, responding to fluid movements by triggering signal ...
Anna Adamiok-Ostrowska +1 more
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Basal body stability and ciliogenesis requires the conserved component Poc1 [PDF]
, 2009 Centrioles are the foundation for centrosome and cilia formation. The biogenesis of centrioles is initiated by an assembly mechanism that first synthesizes the ninefold symmetrical cartwheel and subsequently leads to a stable cylindrical microtubule ...
Thomas H. Giddings +9 more
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Frontiers in Genetics, 2021 Variants in the GLIS family zinc finger protein 2 (GLIS2) are a rare cause of nephronophthisis-related ciliopathies (NPHP-RC). A reduction in urinary concentration and a progressive chronic tubulointerstitial nephropathy with corticomedullary cysts are ...
Intisar Al Alawi +10 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 ...
Friedhelm, Hildebrandt, Weibin, Zhou
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口腔疾病防治, 2022 Fibroblast growth factor 8 (FGF8) is a kind of secretory polypeptide that has crucial roles in the development of various tissues and organs. Current studies have found that FGF8 can regulate the differentiation of cranial neural crest cells by ...
CAO Xiaoling, XIE Jing, ZHOU Xuedong
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Zebrafish Assays of Ciliopathies [PDF]
, 2011 In light of the growing list of human disorders associated with their dysfunction, primary cilia have recently come to attention as being important regulators of developmental signaling pathways and downstream processes. These organelles, present on nearly every vertebrate cell type, are highly conserved structures allowing for study across a range of ...
Norann A, Zaghloul, Nicholas, Katsanis
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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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