A systems-biology approach to understanding the ciliopathy disorders. [PDF]
, 2011 'Ciliopathies' are an emerging class of genetic multisystemic human disorders that are caused by a multitude of largely unrelated genes that affect ciliary structure/function.
Gleeson, Joseph G, Lee, Ji Eun
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ARL3 mutations cause Joubert syndrome by disrupting ciliary protein composition [PDF]
, 2018 Joubert syndrome (JBTS) is a genetically heterogeneous autosomal recessive neurodevelopmental ciliopathy. We investigated further the underlying genetic etiology of Joubert syndrome by studying two unrelated families in whom JBTS was not associated ...
Alhashem, Amal +18 more
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Centrobin controls primary ciliogenesis in vertebrates [PDF]
Journal of Cell Biology, 2018 The BRCA2 interactor, centrobin, is a centrosomal protein that has been implicated in centriole duplication and microtubule stability. We used genome editing to ablate CNTROB in hTERT-RPE1 cells and observed an increased frequency of monocentriolar and acentriolar cells.
Yetunde Adesanya Ogungbenro +6 more
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Primary Cilia Formation Does Not Rely on WNT/β-Catenin Signaling
Frontiers in Cell and Developmental Biology, 2021 Primary cilia act as crucial regulators of embryo development and tissue homeostasis. They are instrumental for modulation of several signaling pathways, including Hedgehog, WNT, and TGF-β.
Ondrej Bernatik +4 more
doaj +1 more source
Abnormal photoreceptor outer segment development and early retinal degeneration in kif3a mutant zebrafish [PDF]
, 2016 Photoreceptors are highly specialized sensory neurons that possess a modified primary cilium called the outer segment. Photoreceptor outer segment formation and maintenance require highly active protein transport via a process known as intraflagellar ...
Akhtar +44 more
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Ciliogenesis, Ciliary Function, and Selective Isolation [PDF]
ACS Chemical Biology, 2008 In addition to their classic role in cell motility, certain cilia have sensory or signaling functions. In sea urchin embryos, short motile cilia randomly propel the early embryo, while a group of long, immotile cilia appear later, coincident with directional swimming and localized within a region that gives rise to the larval nervous system.
openaire +2 more sources
Ouabain modulates ciliogenesis in epithelial cells [PDF]
Proceedings of the National Academy of Sciences, 2011 The exchange of substances between higher organisms and the environment occurs across transporting epithelia whose basic features are tight junctions (TJs) that seal the intercellular space, and polarity, which enables cells to transport substances vectorially.
Isabel, Larre +6 more
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Atrioventricular canal defect and genetic syndromes: the unifying role of sonic hedgehog [PDF]
, 2019 The atrioventricular canal defect (AVCD) is a congenital heart defect (CHD) frequently associated with extracardiac anomalies (75%). Previous observations from a personal series of patients with AVCD and "polydactyly syndromes" showed that the distinct ...
Baban, A +9 more
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Compare and contrast the reaction coordinate diagrams for chemical reactions and cytoskeletal force generators. [PDF]
, 2013 Reaction coordinate diagrams are used to relate the free energy changes that occur during the progress of chemical processes to the rate and equilibrium constants of the process.
Scholey, Jonathan M
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Wdpcp, a PCP Protein Required for Ciliogenesis, Regulates Directional Cell Migration and Cell Polarity by Direct Modulation of the Actin Cytoskeleton [PDF]
, 2013 Planar cell polarity (PCP) regulates cell alignment required for collective cell movement during embryonic development. This requires PCP/PCP effector proteins, some of which also play essential roles in ciliogenesis, highlighting the long-standing ...
Adam V. Kwiatkowski +74 more
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