Results 31 to 40 of about 7,870 (178)
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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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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Zfp423 Regulates Sonic Hedgehog Signaling via Primary Cilium Function.
PLoS Genetics, 2016 Zfp423 encodes a 30-zinc finger transcription factor that intersects several canonical signaling pathways. Zfp423 mutations result in ciliopathy-related phenotypes, including agenesis of the cerebellar vermis in mice and Joubert syndrome (JBTS19) and ...
Chen-Jei Hong, Bruce A Hamilton
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Frontiers in Pediatrics, 2023 BackgroundNeonatal sclerosing cholangitis (NSC) is a rare and severe autosomal recessive inherited liver disease with mutations in DCDC2, commonly requiring liver transplantation (LT) for decompensated biliary cirrhosis in childhood.MethodsThe ...
Xia Wei +6 more
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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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Stem Cell Research, 2018 Joubert Syndrome (JS) is a rare autosomal recessive or X-linked condition characterized by a peculiar cerebellar malformation, known as the molar tooth sign (MTS), associated with other neurological phenotypes and multiorgan involvement.
Jessica Rosati +10 more
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Journal of Pediatric ResearchAim: Ciliopathies are rare genetic diseases referring to a group of syndromic diseases characterized by the deterioration of the structure of the cilia, which may cause kidney failure in childhood.
Sevgin Taner +9 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-
Alba Faus-Pérez +2 more
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CiliaCarta: An integrated and validated compendium of ciliary genes.
PLoS ONE, 2019 The cilium is an essential organelle at the surface of mammalian cells whose dysfunction causes a wide range of genetic diseases collectively called ciliopathies.
Teunis J P van Dam +48 more
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Liver Cirrhosis in Woman with Ciliopathy Syndrome
Acta Medica Indonesiana, 2022 Ciliopathy syndrome is a congenital abnormality of structure and/or function of cilia, which causes pleiotropic disorder, including liver cirrhosis.
Syifa Mustika, Dian Hasanah
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