Results 31 to 40 of about 1,464 (120)
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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Clinical Case Reports, 2023 Key Clinical Message We present the case of a 41‐year‐old man patient diagnosed with solitary left kidney with few cysts. He has a family history of unilateral renal agenesis (URA) but no for autosomal dominant polycystic kidney disease (ADPKD).
Romina Bucci +7 more
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Phosphorylation at the Helm: Kinase‐Mediated Regulation of Primary Cilia Assembly and Disassembly
Cytoskeleton, EarlyView.ABSTRACT The primary cilium serves as an antenna of most vertebrate cells and is important for conveying cues from several signaling pathways into appropriate cellular responses during development and homeostasis. Cilia assembly and disassembly processes are thought to be strictly controlled; however, the precise nature of molecular events underlying ...
Andrea Lacigová, Lukáš Čajánek
wiley +1 more source
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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Dynamics of primary cilia in endothelial and mesenchymal cells throughout mouse lung development
Developmental Dynamics, EarlyView.Abstract Cilia are specialized structures found on a variety of mammalian cells, with variable roles in the transduction of mechanical and biological signals (by primary cilia, PC), as well as in the generation of fluid flow (by motile cilia). Their critical role in the establishment of a left–right axis in early development is well described, as well ...
Stephen Spurgin +8 more
wiley +1 more source
Compound Heterozygous Variants in the IFT140 Gene Associated with Skeletal Ciliopathies
DiagnosticsCiliopathies are rare congenital disorders caused by defects in the structure or function of cilia, which can lead to a wide range of clinical manifestations. Among them, a subset known as skeletal ciliopathies exhibits significant phenotypic overlap and
Katia Margiotti +10 more
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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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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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Coordination of IFT20 With Other IFT Components Is Required for Ciliogenesis
Journal of Clinical Laboratory Analysis, EarlyView.Intraflagellar transport is a bidirectional transport system essential for ciliogenesis. Using the IFT20 knockout cell lines established in this study, we found that IFT20 deficiency significantly impaired ciliogenesis and reduced cilium length. Further investigation revealed that IFT20 interacted with other IFT proteins and regulated their levels and ...
Weishu Wang +6 more
wiley +1 more source
Primary cilia and actin regulatory pathways in renal ciliopathies
Frontiers in NephrologyCiliopathies are a group of rare genetic disorders caused by defects to the structure or function of the primary cilium. They often affect multiple organs, leading to brain malformations, congenital heart defects, and anomalies of the retina or skeletal ...
Rita Kalot +6 more
doaj +1 more source