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Astrocyte-Specific Inhibition of the Primary Cilium Suppresses C3 Expression in Reactive Astrocyte
C3-positive reactive astrocytes play a neurotoxic role in various neurodegenerative diseases. However, the mechanisms controlling C3-positive...
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Inpp5e Regulated the Cilium-Related Genes Contributing to the Neural Tube Defects Under 5-Fluorouracil Exposure
Primary cilia are crucial for neurogenesis, and cilium-related genes are involved in the closure of neural tubes. Inositol...
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Hypothalamic primary cilium: A hub for metabolic homeostasis
Obesity is a global health problem that is associated with adverse consequences such as the development of metabolic disorders, including...
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Reduced expression of TAZ inhibits primary cilium formation in renal glomeruli
Renal primary cilia are antenna-like organelles that maintain cellular homeostasis via multiple receptors clustered along their membranes. Recent...
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Enhanced primary ciliogenesis via mitochondrial oxidative stress activates AKT to prevent neurotoxicity in HSPA9/mortalin-depleted SH-SY5Y cells
The primary cilium, an antenna-like structure on the cell surface, acts as a mechanical and chemical sensory organelle. Primary cilia play critical...
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Targeting the photoreceptor cilium for the treatment of retinal diseases
Photoreceptors, as polarised sensory neurons, are essential for light sensation and phototransduction, which are highly dependent on the...
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Primary cilia as dynamic and diverse signalling hubs in development and disease
Primary cilia, antenna-like sensory organelles protruding from the surface of most vertebrate cell types, are essential for regulating signalling...
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Utilization of automated cilia analysis to characterize novel INPP5E variants in patients with non-syndromic retinitis pigmentosa
INPP5E encodes inositol polyphosphate-5-phosphatase E, an enzyme involved in regulating the phosphatidylinositol (PIP) makeup of the primary cilium...
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LIPUS regulates the progression of knee osteoarthritis in mice through primary cilia-mediated TRPV4 channels
Osteoarthritis (OA) is a common disease in middle-aged and elderly people. An imbalance in calcium ion homeostasis will contribute to chondrocyte...
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Joubert syndrome-derived induced pluripotent stem cells show altered neuronal differentiation in vitro
Joubert syndrome (JS) is a recessively inherited congenital ataxia characterized by hypotonia, psychomotor delay, abnormal ocular movements,...
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A role for primary cilia in coral calcification?
Cilia are evolutionarily conserved organelles that extend from the surface of cells and are found in diverse organisms from protozoans to...
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Potassium Channel KCNH1 Activating Variants Cause Altered Functional and Morphological Ciliogenesis
The primary cilium is a non-motile sensory organelle that extends from the surface of most vertebrate cells and transduces signals regulating...
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Joubert syndrome causing mutation in C2 domain of CC2D2A affects structural integrity of cilia and cellular signaling molecules
Cilia are organelles extend from cells to sense external signals for tuning intracellular signaling for optimal cellular functioning. They have...
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A Ciliary Branched Actin Network Drives Photoreceptor Disc Morphogenesis
The light-detecting organelle of the photoreceptor cell is a modified primary cilium, called the outer segment. The outer segment houses hundreds of...
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Non-syndromic Retinal Degeneration Caused by Pathogenic Variants in Joubert Syndrome Genes
Inherited retinal degenerations (IRDs) are a group of genetic disorders characterized by progressive dysfunction and loss of photoreceptors. IRDs are...
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Whole genome sequencing in the diagnosis of primary ciliary dyskinesia
BackgroundIt is estimated that 1–13% of cases of bronchiectasis in adults globally are attributable to primary ciliary dyskinesia (PCD) but many...
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Abnormal accumulation of extracellular vesicles in hippocampal dystrophic axons and regulation by the primary cilia in Alzheimer’s disease
Dystrophic neurites (DNs) are abnormal axons and dendrites that are swollen or deformed in various neuropathological conditions. In Alzheimer’s...
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1-Indanone retards cyst development in ADPKD mouse model by stabilizing tubulin and down-regulating anterograde transport of cilia
Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease. Cyst development in ADPKD involves abnormal...
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Supporting Evidence of Human Enteric Nervous System Adult Neurogenesis: Presence of Primary Cilia and Adult Neurogenesis Markers
Adult neurogenesis has been profusely studied in central nervous system. However, its presence in enteric nervous system remains elusive although it...
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Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance
BackgroundCongenital hydrocephalus is characterized by ventriculomegaly, defined as a dilatation of cerebral ventricles, and thought to be due to...
