Results 11 to 20 of about 39,977 (306)

Ciliary Defects in Inherited Retinal Diseases [PDF]

Advanced Genetics
Inherited retinal diseases (IRDs) are a heterogeneous group of disorders characterized by progressive photoreceptor degeneration that frequently results in severe vision loss. A major cause of IRDs is attributed to structural or functional defects of the
Guizhi Guo, Lin Li, Jun Zhou, Jie Ran
doaj   +2 more sources

Kinase activity of DYRK family members is required for regulating primary cilium length, stability and morphology [PDF]

Communications Biology
The dual-specificity tyrosine-phoshorylation-regulated kinase (DYRK) family are multifunctional enzymes crucial for diverse cellular processes, including signaling through the primary cilium. Their dysregulation has been implicated in various cancers and
Melis D. Arslanhan, Ebru Topçu, Elif Nur Firat-Karalar   +2 more
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Role for the IFT-A Complex in Selective Transport to the Primary Cilium

Cell Reports, 2016
Intraflagellar transport sub-complex A (IFT-A) is known to regulate retrograde IFT in the cilium. To rigorously assess its other possible roles, we knocked out an IFT-A subunit, IFT121/WDR35, in mammalian cells and screened the localization of more than ...
Wenxiang Fu, Sehyun Kim, Ji Li
exaly   +3 more sources

Spectrum of Genetic Variants in a Cohort of 37 Laterality Defect Cases

Frontiers in Genetics, 2022
Laterality defects are defined by the perturbed left–right arrangement of organs in the body, occurring in a syndromal or isolated fashion. In humans, primary ciliary dyskinesia (PCD) is a frequent underlying condition of defective left–right patterning,
Dinu Antony, Dinu Antony, Elif Gulec Yilmaz, Alper Gezdirici, Lennart Slagter, Zeineb Bakey, Zeineb Bakey, Helen Bornaun, Ibrahim Cansaran Tanidir, Tran Van Dinh, Han G. Brunner, Han G. Brunner, Peter Walentek, Peter Walentek, Sebastian J. Arnold, Sebastian J. Arnold, Rolf Backofen, Rolf Backofen, Miriam Schmidts, Miriam Schmidts, Miriam Schmidts   +20 more
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Adenylate Cyclase Type III Is Not a Ubiquitous Marker for All Primary Cilia during Development. [PDF]

PLoS ONE, 2017
Adenylate cyclase type III (AC3) is localized in plasma membrane of neuronal primary cilium and can be used as a marker of this cilium. AC3 has also been detected in some other primary cilia such as those of fibroblasts, synoviocytes or astrocytes ...
Maria Cristina Antal, Karelle Bénardais, Brigitte Samama, Cyril Auger, Valérie Schini-Kerth, Said Ghandour, Nelly Boehm   +6 more
doaj   +1 more source

Strongly Truncated Dnaaf4 Plays a Conserved Role in Drosophila Ciliary Dynein Assembly as Part of an R2TP-Like Co-Chaperone Complex With Dnaaf6

Frontiers in Genetics, 2022
Axonemal dynein motors are large multi-subunit complexes that drive ciliary movement. Cytoplasmic assembly of these motor complexes involves several co-chaperones, some of which are related to the R2TP co-chaperone complex.
Jennifer Lennon, Petra zur Lage, Alex von Kriegsheim, Andrew P. Jarman   +3 more
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Regulation of Primary Cilium Length by O-GlcNAc during Neuronal Development in a Human Neuron Model

Cells, 2023
The primary cilium plays critical roles in the homeostasis and development of neurons. Recent studies demonstrate that cilium length is regulated by the metabolic state of cells, as dictated by processes such as glucose flux and O-GlcNAcylation (OGN ...
Jie L. Tian, Chia-Wei Huang, Farzad Eslami, Michael Philip Mannino, Rebecca Lee Mai, Gerald W. Hart   +5 more
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A Proximity Mapping Journey into the Biology of the Mammalian Centrosome/Cilium Complex

Cells, 2020
The mammalian centrosome/cilium complex is composed of the centrosome, the primary cilium and the centriolar satellites, which together regulate cell polarity, signaling, proliferation and motility in cells and thereby development and homeostasis in ...
Melis Dilara Arslanhan, Dila Gulensoy, Elif Nur Firat-Karalar   +2 more
doaj   +1 more source

Cilium incarnatum externum [PDF]

Digital Journal of Ophthalmology, 2017
A 25-year-old woman presented with a history of a cosmetically bothersome bulge over her left eyelid. She was diagnosed with cilium incarnatum externum. The subcutaneous cilium was surgically removed and examined.
Taru, Dewan, Chetna, Sharma, Harshika, Chawla, Renu, Singhania, Ananya, Chatterjee   +4 more
openaire   +2 more sources

Dendritic cell proliferation by primary cilium in atopic dermatitis

Frontiers in Molecular Biosciences, 2023
Introduction: Atopic dermatitis (AD) is a common allergic eczema that affects up to 10% of adults in developed countries. Immune cells in the epidermis, namely, Langerhans cells (LCs), contribute to the pathogenesis of AD, although their exact role(s) in
Manami Toriyama, Manami Toriyama, Manami Toriyama, Defri Rizaldy, Defri Rizaldy, Defri Rizaldy, Motoki Nakamura, Motoki Nakamura, Yukiko Atsumi, Yukiko Atsumi, Michinori Toriyama, Fumitaka Fujita, Fumitaka Fujita, Fumitaka Fujita, Fumihiro Okada, Fumihiro Okada, Akimichi Morita, Hiroshi Itoh, Ken J. Ishii, Ken J. Ishii   +19 more
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