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https://www.readbyqxmd.com/read/28650469/a-compartmentalized-phosphoinositide-signaling-axis-at-cilia-is-regulated-by-inpp5e-to-maintain-cilia-and-promote-sonic-hedgehog-medulloblastoma
#1
S E Conduit, V Ramaswamy, M Remke, D N Watkins, B J Wainwright, M D Taylor, C A Mitchell, J M Dyson
Sonic Hedgehog (SHH) signaling at primary cilia drives the proliferation and progression of a subset of medulloblastomas, the most common malignant paediatric brain tumor. Severe side effects associated with conventional treatments and resistance to targeted therapies has led to the need for new strategies. SHH signaling is dependent on primary cilia for signal transduction suggesting the potential for cilia destabilizing mechanisms as a therapeutic target. INPP5E is an inositol polyphosphate 5-phosphatase that hydrolyses PtdIns(4,5)P2 and more potently, the phosphoinositide (PI) 3-kinase product PtdIns(3,4,5)P3...
June 26, 2017: Oncogene
https://www.readbyqxmd.com/read/28649564/primary-ciliary-dyskinesia-an-update-on-clinical-aspects-genetics-diagnosis-and-future-treatment-strategies
#2
REVIEW
Virginia Mirra, Claudius Werner, Francesca Santamaria
Primary ciliary dyskinesia (PCD) is an orphan disease (MIM 244400), autosomal recessive inherited, characterized by motile ciliary dysfunction. The estimated prevalence of PCD is 1:10,000 to 1:20,000 live-born children, but true prevalence could be even higher. PCD is characterized by chronic upper and lower respiratory tract disease, infertility/ectopic pregnancy, and situs anomalies, that occur in ≈50% of PCD patients (Kartagener syndrome), and these may be associated with congenital heart abnormalities...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28643912/mouse-models-for-the-study-of-cranial-base-growth-and-anomalies
#3
REVIEW
S R Vora
The cranial base is a central and integral component of the cranioskeleton, yet little is known about its growth. Despite the dissimilarities between human and murine cranioskeletal form, mouse models are proving instrumental in studying craniofacial growth. The objectives of this review are to summarize recent findings from numerous mouse models that display growth defects in one or more cranial base synchondroses, with accompanying changes in chondrocyte cellular zones. Many of these models also display altered growth of the cranial vault and/or the facial region...
June 2017: Orthodontics & Craniofacial Research
https://www.readbyqxmd.com/read/28640449/polycystic-kidney-disease
#4
Joseph Ghata, Benjamin D Cowley
Renal cysts, which arise from renal tubules, can be seen in a variety of hereditary and nonhereditary entities. Common mechanisms associated with renal cyst formation include increased cell proliferation, epithelial fluid secretion, and extracellular matrix remodeling. Hereditary polycystic kidney disease (PKD) is seen as a component of numerous diseases. Autosomal dominant (AD) PKD is the most common potentially fatal hereditary disease in humans, causes renal failure in approximately 50% of affected individuals, and accounts for approximately 5% of end stage renal disease cases in the United States...
June 18, 2017: Comprehensive Physiology
https://www.readbyqxmd.com/read/28637787/biophysics-and-biofluiddynamics-of-primary-cilia-evidence-for-and-against-the-flow-sensing-function
#5
Subhra Nag, Andrew Resnick
Primary cilia have been called "the forgotten organelle" for over 20 years. As cilia now have their own Journal and several books devoted to their study, perhaps it's time to reconsider the moniker "forgotten organelle". In fact, during the drafting of this review, 12 relevant publications have been issued- we therefore apologize in advance for any relevant work we inadvertently omitted. What purpose is yet another ciliary review? The primary goal of this review is to specifically examine the evidence for and against the hypothesized flow-sensing function of primary cilia expressed by differentiated epithelia within a kidney tubule, bringing together differing disciplines and their respective conceptual and experimental approaches...
June 21, 2017: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/28636018/fluorescence-lifetime-microscopy-reveals-the-biologically-related-photophysical-heterogeneity-of-oxyblepharismin-in-light-adapted-blue-blepharisma-japonicum-cells
#6
G Checcucci, B Storti, F Ghetti, G Signore, R Bizzarri
The step-up photophobic response of the heterotrich ciliate Blepharisma japonicum is mediated by a hypericinic pigment, blepharismin, which is not present in any of the known six families of photoreceptors, namely rhodopsins, phytochromes, xanthopsins, cryptochromes, phototropins, and BLUF proteins. Upon irradiation, native cells become light-adapted (blue) by converting blepharismin into the photochemically stable oxyblepharismin (OxyBP). So far, OxyBP has been investigated mainly from a photophysical point of view in vitro, either alone or complexed with proteins...
June 21, 2017: Photochemical & Photobiological Sciences
https://www.readbyqxmd.com/read/28634892/lung-clearance-index-lci-is-stable-in-most-primary-ciliary-dyskinesia-pcd-patients-managed-in-a-specialist-centre-a-pilot-study
#7
S Irving, S Carr, C Hogg, M Loebinger, A Shoemark, A Bush
Primary ciliary dyskinesia is a condition in which abnormal cilia structure or function leads to reduced mucociliary clearance and obstructive lung disease. Twenty-nine patients had lung clearance index (LCI) measured in 2009 and we attempted to perform a 5-year follow-up. Only 12 patients could be re-recruited, but in this small group LCI was stable over the 5 years, which confirms previous data showing that spirometry is also stable in these patients over the medium term. The two patients with the highest LCI in 2009 had since died, despite one having relatively preserved spirometry at the time...
June 20, 2017: Lung
https://www.readbyqxmd.com/read/28633033/centrosome-assembly-reconstructing-the-core-cartwheel-structure-in%C3%A2-vitro
#8
Gaëlle Marteil, Marco António Dias Louro, Mónica Bettencourt-Dias
Centrioles are microtubule-based cylinders essential for the formation of centrosomes and cilia. A recent study provides a new cell-free assay that reconstitutes the initial structure formed during centriole assembly - the cartwheel - and proposes a new model for its formation and growth.
June 19, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/28632769/combining-omics-and-microscopy-to-visualize-interactions-between-the-asian-citrus-psyllid-vector-and-the-huanglongbing-pathogen-candidatus-liberibacter-asiaticus-in-the-insect-gut
#9
Angela Kruse, Somayeh Fattah-Hosseini, Surya Saha, Richard Johnson, EricaRose Warwick, Kasie Sturgeon, Lukas Mueller, Michael J MacCoss, Robert G Shatters, Michelle Cilia Heck
Huanglongbing, or citrus greening disease, is an economically devastating bacterial disease of citrus. It is associated with infection by the gram-negative bacterium Candidatus Liberibacter asiaticus (CLas). CLas is transmitted by Diaphorina citri, the Asian citrus psyllid (ACP). For insect transmission to occur, CLas must be ingested during feeding on infected phloem sap and cross the gut barrier to gain entry into the insect vector. To investigate the effects of CLas exposure at the gut-pathogen interface, we performed RNAseq and mass spectrometry-based proteomics to analyze the transcriptome and proteome, respectively, of ACP gut tissue...
2017: PloS One
https://www.readbyqxmd.com/read/28630322/tcte1-is-a-conserved-component-of-the-dynein-regulatory-complex-and-is-required-for-motility-and-metabolism-in-mouse-spermatozoa
#10
Julio M Castaneda, Rong Hua, Haruhiko Miyata, Asami Oji, Yueshuai Guo, Yiwei Cheng, Tao Zhou, Xuejiang Guo, Yiqiang Cui, Bin Shen, Zibin Wang, Zhibin Hu, Zuomin Zhou, Jiahao Sha, Renata Prunskaite-Hyyrylainen, Zhifeng Yu, Ramiro Ramirez-Solis, Masahito Ikawa, Martin M Matzuk, Mingxi Liu
Flagella and cilia are critical cellular organelles that provide a means for cells to sense and progress through their environment. The central component of flagella and cilia is the axoneme, which comprises the "9+2" microtubule arrangement, dynein arms, radial spokes, and the nexin-dynein regulatory complex (N-DRC). Failure to properly assemble components of the axoneme leads to defective flagella and in humans leads to a collection of diseases referred to as ciliopathies. Ciliopathies can manifest as severe syndromic diseases that affect lung and kidney function, central nervous system development, bone formation, visceral organ organization, and reproduction...
June 19, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28628154/-morphological-changes-on-cochlear-hair-cells-of-rats-in-simulated-weightlessness-and-inboard-noise
#11
(no author information available yet)
OBJECTIVE: To observe the morphological changes on cochlear hair cells of rats in simulated weightlessness and inboard noise and to investigate the different changes in three turns of hair cells. METHODS: Thirty-two healthy SD rats, all males, were randomly divided into four groups: control group, weightlessness group, noise group and weightlessness+noise groups (n=8). Then rats were exposed to -30° head down tilt as simulated weightlessness and inboard noise including steady-state noise which was (72±2) dB SPL and impulse noise up to 160 dB SPL in spaceship environment...
June 18, 2017: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://www.readbyqxmd.com/read/28627559/a-luminescent-lanthanide-approach-towards-direct-visualization-of-primary-cilia-in-living-cells
#12
Hongguang Li, Rongfeng Lan, Chi-Fai Chan, Guochen Bao, Chen Xie, Pak-Ho Chu, William C S Tai, Shuai Zha, Jing-Xiang Zhang, Ka-Leung Wong
We report a direct imaging tool, HGEu001, for primary cilia in living cells, which is specific, and based on the UV light or near infrared laser (via two-photon excitation) induced long-lived europium luminescence.
June 19, 2017: Chemical Communications: Chem Comm
https://www.readbyqxmd.com/read/28625917/the-cholangiocyte-primary-cilium-in-health-and-disease
#13
REVIEW
Adrian P Mansini, Estanislao Peixoto, Kristen M Thelen, Cesar Gaspari, Sujeong Jin, Sergio A Gradilone
Cholangiocytes, like most cells, express primary cilia extending from their membranes. These organelles function as antennae which detect stimuli from bile and transmit the information into cells regulating several signaling pathways involved in secretion, proliferation and apoptosis. The ability of primary cilia to detect different signals is provided by ciliary associated proteins which are expressed in its membrane. Defects in the structure and/or function of these organelles lead to cholangiociliopathies that result in cholangiocyte hyperproliferation, altered fluid secretion and absorption...
June 15, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28625565/the-cep19-rabl2-gtpase-complex-binds-ift-b-to-initiate-intraflagellar-transport-at-the-ciliary-base
#14
Tomoharu Kanie, Keene Louis Abbott, Nancie Ann Mooney, Edward Douglas Plowey, Janos Demeter, Peter Kent Jackson
Highly conserved intraflagellar transport (IFT) protein complexes direct both the assembly of primary cilia and the trafficking of signaling molecules. IFT complexes initially accumulate at the base of the cilium and periodically enter the cilium, suggesting an as-yet-unidentified mechanism that triggers ciliary entry of IFT complexes. Using affinity-purification and mass spectrometry of interactors of the centrosomal and ciliopathy protein, CEP19, we identify CEP350, FOP, and the RABL2B GTPase as proteins organizing the first known mechanism directing ciliary entry of IFT complexes...
June 14, 2017: Developmental Cell
https://www.readbyqxmd.com/read/28625504/mutations-in-armc9-which-encodes-a-basal-body-protein-cause-joubert-syndrome-in-humans-and-ciliopathy-phenotypes-in-zebrafish
#15
Julie C Van De Weghe, Tamara D S Rusterholz, Brooke Latour, Megan E Grout, Kimberly A Aldinger, Ranad Shaheen, Jennifer C Dempsey, Sateesh Maddirevula, Yong-Han H Cheng, Ian G Phelps, Matthias Gesemann, Himanshu Goel, Ohad S Birk, Talal Alanzi, Rifaat Rawashdeh, Arif O Khan, Michael J Bamshad, Deborah A Nickerson, Stephan C F Neuhauss, William B Dobyns, Fowzan S Alkuraya, Ronald Roepman, Ruxandra Bachmann-Gagescu, Dan Doherty
Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterized by hypotonia, ataxia, abnormal eye movements, and variable cognitive impairment. It is defined by a distinctive brain malformation known as the "molar tooth sign" on axial MRI. Subsets of affected individuals have malformations such as coloboma, polydactyly, and encephalocele, as well as progressive retinal dystrophy, fibrocystic kidney disease, and liver fibrosis. More than 35 genes have been associated with JS, but in a subset of families the genetic cause remains unknown...
June 14, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28624967/routes-and-machinery-of-primary-cilium-biogenesis
#16
REVIEW
Miguel Bernabé-Rubio, Miguel A Alonso
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 organ. Depending on the cell type, primary ciliogenesis is initiated intracellularly, as in fibroblasts, or at the cell surface, as in renal polarized epithelial cells...
June 17, 2017: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/28621423/roles-of-the-cilium-associated-gene-ccdc11-in-left-right-patterning-and-in-laterality-disorders-in-humans
#17
Michal Gur, Enbal Ben-Tal Cohen, Olga Genin, Abraham Fainsod, Zeev Perles, Yuval Cinnamon
Axial determination occurs during early stages of embryogenesis. Flaws in laterality patterning result in abnormal positioning of visceral organs, as manifested in heterotaxy syndrome, or complete left-right inversion as in situs inversus totalis. These malformations are often associated with ciliopathies, as seen in primary ciliary dyskinesia. We have recently described a novel mutation in the Coiled-Coil Domain-Containing 11 (CCDC11) gene associated with laterality disorders in a consanguineous family of Arab-Muslim origin with two affected siblings presenting with diverse phenotypes, one with heterotaxy syndrome and the other with non-primary ciliary dyskinesia situs inversus totalis...
2017: International Journal of Developmental Biology
https://www.readbyqxmd.com/read/28618581/symplectic-and-antiplectic-waves-in-an-array-of-beating-cilia-attached-to-a-closed-body
#18
Aref Ghorbani, Ali Najafi
By taking into account the hydrodynamic interactions in a one dimensional array of model cilia attached to a no-slip cylinderical surface, we investigate their synchronized motion. We show how the emergence of metachronal waves depends on the initial state of the system and investigate the conditions under which the formation of symplectic and antiplectic waves are possible.
May 2017: Physical Review. E
https://www.readbyqxmd.com/read/28616378/primary-ciliary-dyskinesia-presenting-with-spontaneous-pneumothorax-case-report-and-review-of-the-literature
#19
Jia Hou, Yanan Zhang, Ri Gong, Xiwei Zheng, Xia Yang
BACKGROUND: Primary ciliary dyskinesia (PCD) is an autosomal recessive heterogeneous group of conditions with variable clinical findings. CASE PRESENTATION: A 36-year-old nonsmoking Chinese man present to the emergency department of our hospital with acute-onset breathlessness and sudden-onset left-sided chest pain. The patient had 6 years primary infertility and suffered from recurrent episodes of respiratory tract infections since childhood. Chest X-ray was performed, which showed a left-sided pneumothorax with lung collapse...
2017: Respiratory Medicine Case Reports
https://www.readbyqxmd.com/read/28615477/correction-joiner-and-green-et-al-primary-cilia-on-horizontal-basal-cells-regulate-regeneration-of-the-olfactory-epithelium
#20
(no author information available yet)
No abstract text is available yet for this article.
June 14, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
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