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CEP290 and the Primary Cilium

2014
The protein CEP290 has recently emerged as a major player in the biology of the cilium and as a causative protein in a number of human syndromic diseases, most of which are associated with the devastating blinding disease Leber congenital amaurosis. (Coppieters et al., Hum Mutat 31, 2010, 1097-1108) CEP290 is known to be an important component of the ...
Jean Bennett, Theodore G. Drivas
openaire   +3 more sources

Depletion of primary cilium in acral melanoma

Journal of Cutaneous Pathology, 2019
AbstractBackgroundA eukaryotic cell's primary cilium (PC) is critical for cell signaling, migration and homeostasis. Primary cilium dysfunction has been demonstrated in several malignancies, but whether primary cilia loss occurs in acral melanoma has remained unknown.
Nick R. Love   +3 more
openaire   +2 more sources

The vertebrate primary cilium is a sensory organelle

Current Opinion in Cell Biology, 2003
The primary cilium is a generally non-motile cilium that occurs singly on most cells in the vertebrate body. The function of this organelle, which has been the subject of much speculation but little experimentation, has been unknown. Recent findings reveal that the primary cilium is an antenna displaying specific receptors and relaying signals from ...
Pazour, Gregory J., Witman, George B.
openaire   +4 more sources

Routes and machinery of primary cilium biogenesis

Cellular and Molecular Life Sciences, 2017
Primary cilia are solitary, microtubule-based protrusions of the cell surface that play fundamental roles as photosensors, mechanosensors and biochemical sensors. Primary cilia dysfunction results in a long list of developmental and degenerative disorders that combine to give rise to a large spectrum of human diseases affecting almost any major body ...
Miguel Bernabé-Rubio, Miguel A. Alonso
openaire   +3 more sources

Vertebrate Smoothened functions at the primary cilium

Nature, 2005
The unanticipated involvement of several intraflagellar transport proteins in the mammalian Hedgehog (Hh) pathway has hinted at a functional connection between cilia and Hh signal transduction. Here we show that mammalian Smoothened (Smo), a seven-transmembrane protein essential for Hh signalling, is expressed on the primary cilium.
Jeremy F. Reiter   +5 more
openaire   +3 more sources

Primary Cilium in CO25 Cell Line

2003
A few variety of cell type contain a primary cilium. Also the biological function(s) of primary cilia within such cell types are largely unknown. CO25 myoblast cell lines were cultured then they were stained with anti Glu- and Tyr- tubulin in this study. Glu-tubulin rich microtubules were only rarely seen in the cells.
Zeytinoğlu, Melih, Ocak, HY
openaire   +3 more sources

The primary cilium and lipophagy translate mechanical forces to direct metabolic adaptation of kidney epithelial cells

Nature Cell Biology, 2020
Caterina Miceli   +12 more
semanticscholar   +1 more source

Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells

Nature Genetics, 2003
S. Nauli   +11 more
semanticscholar   +1 more source

Pharmacological Regulation of Primary Cilium Formation Affects the Mechanosensitivity of Osteocytes

Calcified Tissue International, 2020
Dong Ding   +6 more
semanticscholar   +1 more source

Assembly of the primary cilium

Reactome - a curated knowledgebase of biological pathways, 2014
openaire   +1 more source

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