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Cilia

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https://www.readbyqxmd.com/read/30140428/amyloid-%C3%AE-interrupts-canonical-sonic-hedgehog-signaling-by-distorting-primary-cilia-structure
#1
Anna G Vorobyeva, Aleister J Saunders
Background: Primary cilia are small non-motile microtubule and cell membrane protrusions expressed on most vertebrate cells, including cortical and hippocampal neurons. These small organelles serve as sensory structures sampling the extracellular environment and reprogramming the transcriptional machinery in response to environmental change. Primary cilia are decorated with a variety of receptor proteins and are necessary for specific signaling cascades such as the Sonic hedgehog (Shh) pathway...
2018: Cilia
https://www.readbyqxmd.com/read/30079247/evidence-of-primary-cilia-in-the-developing-rat-heart
#2
Sarbjot Kaur, Sue R McGlashan, Marie-Louise Ward
Background: A transient increase in cytosolic Ca2+ (the "Ca2+ transient") determines the degree and duration of myocyte force development in the heart. However, we have previously observed that, under the same experimental conditions, the Ca2+ transients from isolated cardiac myocytes are reduced in amplitude in comparison to those from multicellular cardiac preparations. We therefore questioned whether the enzymatic cell isolation procedure might remove structures that modulate intracellular Ca2+ in some way...
2018: Cilia
https://www.readbyqxmd.com/read/29713460/sensing-the-cilium-digital-capture-of-ciliary-data-for-comparative-genomics-investigations
#3
Karen R Christie, Judith A Blake
Background: Cilia are specialized, hair-like structures that project from the cell bodies of eukaryotic cells. With increased understanding of the distribution and functions of various types of cilia, interest in these organelles is accelerating. To effectively use this great expansion in knowledge, this information must be made digitally accessible and available for large-scale analytical and computational investigation. Capture and integration of knowledge about cilia into existing knowledge bases, thus providing the ability to improve comparative genomic data analysis, is the objective of this work...
2018: Cilia
https://www.readbyqxmd.com/read/29568513/assaying-sensory-ciliopathies-using-calcium-biosensor-expression-in-zebrafish-ciliated-olfactory-neurons
#4
Judith G M Bergboer, Cameron Wyatt, Christina Austin-Tse, Emre Yaksi, Iain A Drummond
Background: Primary cilia mediate signal transduction by acting as an organizing scaffold for receptors, signalling proteins and ion channels. Ciliated olfactory sensory neurons (OSNs) organize olfactory receptors and ion channels on cilia and generate a calcium influx as a primary signal in odourant detection. In the zebrafish olfactory placode, ciliated OSNs and microvillus OSNs constitute the major OSN cell types with distinct odourant sensitivity. Methods: Using transgenic expression of the calcium biosensor GCaMP5 in OSNs, we analysed sensory cilia-dependent odour responses in live zebrafish, at individual cell resolution...
2018: Cilia
https://www.readbyqxmd.com/read/29177046/the-gene-ontology-of-eukaryotic-cilia-and-flagella
#5
Paola Roncaglia, Teunis J P van Dam, Karen R Christie, Lora Nacheva, Grischa Toedt, Martijn A Huynen, Rachael P Huntley, Toby J Gibson, Jane Lomax
Background: Recent research into ciliary structure and function provides important insights into inherited diseases termed ciliopathies and other cilia-related disorders. This wealth of knowledge needs to be translated into a computational representation to be fully exploitable by the research community. To this end, members of the Gene Ontology (GO) and SYSCILIA Consortia have worked together to improve representation of ciliary substructures and processes in GO. Methods: Members of the SYSCILIA and Gene Ontology Consortia suggested additions and changes to GO, to reflect new knowledge in the field...
2017: Cilia
https://www.readbyqxmd.com/read/28770089/the-rise-and-fall-of-basal-bodies-in-the-nematode-caenorhabditis-elegans
#6
REVIEW
Inna V Nechipurenko, Piali Sengupta
The free-living nematode, Caenorhabditis elegans , is a widely used genetic model organism for investigations into centriole and cilia biology. Only sensory neurons are ciliated in C. elegans ; morphologically diverse cilia in these neurons are nucleated by basal bodies located at the dendritic endings. C. elegans centrioles comprise a central tube with a symmetric array of nine singlet microtubules. These singlet microtubules remodel in a subset of sensory neurons to form the doublet microtubules of the basal bodies...
2017: Cilia
https://www.readbyqxmd.com/read/28560031/nuclear-roles-for-cilia-associated-proteins
#7
REVIEW
Tristan D McClure-Begley, Michael W Klymkowsky
Cilia appear to be derived, evolutionarily, from structures present in the ancestral (pre-ciliary) eukaryote, such as microtubule-based vesicle trafficking and chromosome segregation systems. Experimental observations suggest that the ciliary gate, the molecular complex that mediates the selective molecular movement between cytoplasmic and ciliary compartments, shares features with nuclear pores. Our hypothesis is that this shared transport machinery is at least partially responsible for the observation that a number of ciliary and ciliogenesis-associated proteins are found within nuclei where they play roles in the regulation of gene expression, DNA repair, and nuclear import and export...
2017: Cilia
https://www.readbyqxmd.com/read/28400947/mutations-in-ift-a-satellite-core-component-genes-ift43-and-ift121-produce-short-rib-polydactyly-syndrome-with-distinctive-campomelia
#8
Ivan Duran, S Paige Taylor, Wenjuan Zhang, Jorge Martin, Faisal Qureshi, Suzanne M Jacques, Robert Wallerstein, Ralph S Lachman, Deborah A Nickerson, Michael Bamshad, Daniel H Cohn, Deborah Krakow
BACKGROUND: Skeletal ciliopathies comprise a spectrum of ciliary malfunction disorders that have a profound effect on the skeleton. Most common among these disorders is short rib polydactyly syndrome (SRPS), a recessively inherited perinatal lethal condition characterized by a long narrow chest, markedly shortened long bones, polydactyly and, often, multi-organ system involvement. SRPS shows extensive locus heterogeneity with mutations in genes encoding proteins that participate in cilia formation and/or function...
2017: Cilia
https://www.readbyqxmd.com/read/28367320/basal-body-positioning-and-anchoring-in-the-multiciliated-cell-paramecium-tetraurelia-roles-of-ofd1-and-vfl3
#9
Hakim Bengueddach, Michel Lemullois, Anne Aubusson-Fleury, France Koll
BACKGROUND: The development of a ciliary axoneme requires the correct docking of the basal body at cytoplasmic vesicles or plasma membrane. In the multiciliated cell Paramecium, three conserved proteins, FOR20, Centrin 2, and Centrin 3 participate in this process, FOR20 and Centrin 2 being involved in the assembly of the transition zone. We investigated the function of two other evolutionary conserved proteins, OFD1 and VFL3, likely involved in this process. RESULTS: In Paramecium tetraurelia, a single gene encodes OFD1, while four genes encode four isoforms of VFL3, grouped into two families, VFL3-A and VFL3-B...
2017: Cilia
https://www.readbyqxmd.com/read/28352462/fixation-methods-can-differentially-affect-ciliary-protein-immunolabeling
#10
Kiet Hua, Russell J Ferland
BACKGROUND: Primary cilia are immotile, microtubule-based organelles present on most cells. Defects in primary cilia presence/function result in a category of developmental diseases referred to as ciliopathies. As the cilia field progresses, there is a need to consider both the ciliary and extraciliary roles of cilia proteins. However, traditional fixation methods are not always suitable for examining the full range of localizations of cilia proteins. Here, we tested a variety of fixation methods with commonly used cilia markers to determine the most appropriate fixation method for different cilia proteins...
2017: Cilia
https://www.readbyqxmd.com/read/28344782/la-related-protein-6-controls-ciliated-cell-differentiation
#11
Zarko Manojlovic, Ryan Earwood, Akiko Kato, Diana Perez, Oscar A Cabrera, Ruth Didier, Timothy L Megraw, Branko Stefanovic, Yoichi Kato
BACKGROUND: La-related protein 6 (LARP6) is an evolutionally conserved RNA-binding protein. Vertebrate LARP6 binds the 5' stem-loop found in mRNAs encoding type I collagen to regulate their translation, but other target mRNAs and additional functions for LARP6 are unknown. The aim of this study was to elucidate an additional function of LARP6 and to evaluate the importance of its function during development. METHODS: To uncover the role of LARP6 in development, we utilized Morpholino Oligos to deplete LARP6 protein in Xenopus embryos...
2017: Cilia
https://www.readbyqxmd.com/read/28344781/patient-specific-three-dimensional-explant-spheroids-derived-from-human-nasal-airway-epithelium-a-simple-methodological-approach-for-ex-vivo-studies-of-primary-ciliary-dyskinesia
#12
June Kehlet Marthin, Elizabeth Munkebjerg Stevens, Lars Allan Larsen, Søren Tvorup Christensen, Kim Gjerum Nielsen
BACKGROUND: Three-dimensional explant spheroid formation is an ex vivo technique previously used in studies of airway epithelial ion and water transport. Explanted cells and sheets of nasal epithelium form fully differentiated spheroids enclosing a partly fluid-filled lumen with the ciliated apical surface facing the outside and accessible for analysis of ciliary function. METHODS: We performed a two-group comparison study of ciliary beat pattern and ciliary beat frequency in spheroids derived from nasal airway epithelium in patients with primary ciliary dyskinesia (PCD) and in healthy controls...
2017: Cilia
https://www.readbyqxmd.com/read/28344780/abnormal-glycosylation-in-joubert-syndrome-type-10
#13
Megan S Kane, Mariska Davids, Michelle R Bond, Christopher J Adams, Megan E Grout, Ian G Phelps, Diana R O'Day, Jennifer C Dempsey, Xeuli Li, Gretchen Golas, Gilbert Vezina, Meral Gunay-Aygun, John A Hanover, Dan Doherty, Miao He, May Christine V Malicdan, William A Gahl, Cornelius F Boerkoel
BACKGROUND: The discovery of disease pathogenesis requires systematic agnostic screening of multiple homeostatic processes that may become deregulated. We illustrate this principle in the evaluation and diagnosis of a 5-year-old boy with Joubert syndrome type 10 (JBTS10). He carried the OFD1 mutation p.Gln886Lysfs*2 (NM_003611.2: c.2656del) and manifested features of Joubert syndrome. METHODS: We integrated exome sequencing, MALDI-TOF mass spectrometry analyses of plasma and cultured dermal fibroblasts glycomes, and full clinical evaluation of the proband...
2017: Cilia
https://www.readbyqxmd.com/read/28293419/cilia-before-and-after
#14
REVIEW
Peter Satir
This is a history of cilia research before and after the discovery of intraflagellar transport (IFT) and the link between primary cilia ciliogenesis and polycystic kidney disease (PKD). Before IFT, ca. the beginning of the new millennium, although sensory and primary cilia were well described, research was largely focused on motile cilia, their structure, movement, and biogenesis. After IFT and the link to PKD, although work on motile cilia has continued to progress, research on primary cilia has exploded, leading to new insights into the role of cilia in cell signaling and development...
2017: Cilia
https://www.readbyqxmd.com/read/27602205/using-sea-urchin-gametes-and-zygotes-to-investigate-centrosome-duplication
#15
REVIEW
Greenfield Sluder
Centriole structure and function in the sea urchin zygote parallel those in mammalian somatic cells. Here, I briefly introduce the properties and attributes of the sea urchin system that make it an attractive platform for the study of centrosome and centriole duplication. These attributes apply to all echinoderms readily available from commercial suppliers: sea urchins, sand dollars, and starfish. I list some of the practical aspects of the system that make it a cost- and time-effective system for experimental work and then list properties that are a "tool kit" that can be used to conduct studies that would not be practical, or in some cases not possible, with mammalian somatic cells...
2016: Cilia
https://www.readbyqxmd.com/read/27493724/the-in-out-assay-a-new-tool-to-study-ciliogenesis
#16
Ira Kukic, Felix Rivera-Molina, Derek Toomre
BACKGROUND: Nearly all cells have a primary cilia on their surface, which functions as a cellular antennae. Primary cilia assembly begins intracellularly and eventually emerges extracellularly. However, current ciliogenesis assays, which detect cilia length and number, do not monitor ciliary stages. METHODS: We developed a new assay that detects antibody access to a fluorescently tagged ciliary transmembrane protein, which revealed three ciliary states: classified as 'inside,' 'outside,' or 'partial' cilia...
2016: Cilia
https://www.readbyqxmd.com/read/27382461/drosophila-melanogaster-as-a-model-for-basal-body-research
#17
REVIEW
Swadhin Chandra Jana, Mónica Bettencourt-Dias, Bénédicte Durand, Timothy L Megraw
The fruit fly, Drosophila melanogaster, is one of the most extensively studied organisms in biological research and has centrioles/basal bodies and cilia that can be modelled to investigate their functions in animals generally. Centrioles are nine-fold symmetrical microtubule-based cylindrical structures required to form centrosomes and also to nucleate the formation of cilia and flagella. When they function to template cilia, centrioles transition into basal bodies. The fruit fly has various types of basal bodies and cilia, which are needed for sensory neuron and sperm function...
2016: Cilia
https://www.readbyqxmd.com/read/27379179/eight-unique-basal-bodies-in-the-multi-flagellated-diplomonad-giardia-lamblia
#18
REVIEW
Shane G McInally, Scott C Dawson
Giardia lamblia is an intestinal parasitic protist that causes significant acute and chronic diarrheal disease worldwide. Giardia belongs to the diplomonads, a group of protists in the supergroup Excavata. Diplomonads are characterized by eight motile flagella organized into four bilaterally symmetric pairs. Each of the eight Giardia axonemes has a long cytoplasmic region that extends from the centrally located basal body before exiting the cell body as a membrane-bound flagellum. Each basal body is thus unique in its cytological position and its association with different cytoskeletal features, including the ventral disc, axonemes, and extra-axonemal structures...
2016: Cilia
https://www.readbyqxmd.com/read/27335639/ciliogenesis-and-the-dna-damage-response-a-stressful-relationship
#19
REVIEW
Colin A Johnson, Spencer J Collis
Both inherited and sporadic mutations can give rise to a plethora of human diseases. Through myriad diverse cellular processes, sporadic mutations can arise through a failure to accurately replicate the genetic code or by inaccurate separation of duplicated chromosomes into daughter cells. The human genome has therefore evolved to encode a large number of proteins that work together with regulators of the cell cycle to ensure that it remains error-free. This is collectively known as the DNA damage response (DDR), and genome stability mechanisms involve a complex network of signalling and processing factors that ensure redundancy and adaptability of these systems...
2016: Cilia
https://www.readbyqxmd.com/read/27293550/the-cilia-regulated-proteasome-and-its-role-in-the-development-of-ciliopathies-and-cancer
#20
REVIEW
Christoph Gerhardt, Tristan Leu, Johanna Maria Lier, Ulrich Rüther
The primary cilium is an essential structure for the mediation of numerous signaling pathways involved in the coordination and regulation of cellular processes essential for the development and maintenance of health. Consequently, ciliary dysfunction results in severe human diseases called ciliopathies. Since many of the cilia-mediated signaling pathways are oncogenic pathways, cilia are linked to cancer. Recent studies demonstrate the existence of a cilia-regulated proteasome and that this proteasome is involved in cancer development via the progression of oncogenic, cilia-mediated signaling...
2016: Cilia
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