Results 71 to 80 of about 16,795 (294)
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
openaire +2 more sources
Development and disease of the photoreceptor cilium [PDF]
, 2009 Primary cilia are microtubule-rich hair-like extensions protruding from the surface of most post-mitotic cells. They act as sensory organelles that help interpret various environmental cues.
Adams +48 more
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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
doaj +1 more source
Cystic kidney diseases: many ways to form a cyst [PDF]
, 2012 Renal cysts are a common radiological finding in both adults and children. They occur in a variety of conditions, and the clinical presentation, management, and prognosis varies widely.
Loftus, H., Ong, A.C.M.
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Retinal Ciliopathies and Potential Gene Therapies: A Focus on Human iPSC-Derived Organoid Models
International Journal of Molecular SciencesThe human photoreceptor function is dependent on a highly specialised cilium. Perturbation of cilial function can often lead to death of the photoreceptor and loss of vision.
Andrew McDonald, Jan Wijnholds
semanticscholar +1 more source
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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Accelerated age-related olfactory decline among type 1 Usher patients [PDF]
, 2016 Usher Syndrome (USH) is a rare disease with hearing loss, retinitis pigmentosa and, sometimes, vestibular dysfunction. A phenotype heterogeneity is reported.
António, N +6 more
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Ciliogenesis and the DNA damage response: A stressful relationship [PDF]
, 2016 Both inherited and sporadic mutations can give rise to a plethora of human diseases. Through myriad diverse cellular processes, sporadic mutations can arise through a failure to accurately replicate the genetic code or by inaccurate separation of ...
Collis, SJ, Johnson, CA
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eLifeDysfunction of primary cilia leads to genetic disorder, ciliopathies, which shows various malformations in many vital organs such as brain. Multiple tongue deformities including cleft, hamartoma, and ankyloglossia are also seen in ciliopathies, which ...
Maiko Kawasaki +24 more
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Shortened primary cilium length and dysregulated Sonic hedgehog signaling in Niemann-Pick C1 disease [PDF]
, 2017 The Niemann-Pick type C1 (NPC1) disease is a neurodegenerative lysosomal storage disorder due to mutations in the NPC1 gene, encoding a transmembrane protein related to the Sonic hedgehog receptor, Patched, and involved in intracellular trafficking of ...
Canterini, Sonia +7 more
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