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https://www.readbyqxmd.com/read/28935136/coordinating-the-uncoordinated-unc119-trafficking-in-cilia
#1
REVIEW
Francesca Jean, David Pilgrim
Constructing the distinct subcellular environment of the cilium relies in a large part upon intraflagellar transport (IFT) proteins, which traffic cargo both to and within the cilium. However, evidence from the last 10 years suggests that IFT alone is not sufficient to generate the ciliary environment. One essential factor is UNC119, which interacts with known IFT molecular switches to transport ciliary cargos. Despite its apparent importance in ciliary trafficking though, human UNC119 mutations have only rarely been associated with diseases commonly linked with ciliopathies...
September 6, 2017: European Journal of Cell Biology
https://www.readbyqxmd.com/read/28931427/serotonin-5-ht6-receptors-affect-cognition-in-a-mouse-model-of-alzheimer-s-disease-by-regulating-cilia-function
#2
Lili Hu, Bingjie Wang, Yan Zhang
BACKGROUND: Serotonin receptor 5-HT6 is involved in cognition and Alzheimer's disease (AD) development. However, the mechanism of 5-HT6 in AD pathology is not clear. METHODS: Since 5-HT6 is almost exclusively expressed in the primary cilia, using immunostaining we examined the number of cilia in the hippocampus of AD animal model APP/PS1 mice. By overexpressing and knocking down 5-HT6 in the primary cultured hippocampal neurons, we investigated the roles of 5-HT6 in alternating ciliary morphology...
September 20, 2017: Alzheimer's Research & Therapy
https://www.readbyqxmd.com/read/28931065/chlamydomonas-fap265-is-a-tubulin-polymerization-promoting-protein-essential-for-flagellar-reassembly-and-hatching-of-daughter-cells-from-the-sporangium
#3
Damayanti Tammana, Trinadh Venkata Satish Tammana
Tubulin polymerization promoting proteins (TPPPs) belong to a family of neomorphic moon lighting proteins, involved in various physiological and pathological conditions. In physiological conditions, TPPPs play an important role in microtubule dynamics regulating mitotic spindle assembly and in turn cell proliferation. In pathological situations, TPPPs interact with α-synuclein and β-amyloid and promote their aggregation leading to Parkinson's disease and multiple system atrophy. Orthologs of TPPP family proteins were identified in ciliary proteomes from various organisms including Chlamydomonas but their role in ciliogenesis was not known...
2017: PloS One
https://www.readbyqxmd.com/read/28925789/motile-cilia-defects-in-diseases-other-than-primary-ciliary-dyskinesia-the-contemporary-diagnostic-and-research-role-for-transmission-electron-microscopy
#4
Hannah M Mitchison, Amelia Shoemark
Ultrastructural studies have underpinned the cell biological and clinical investigations of the varied roles of motile cilia in health and disease, with a long history since the 1950s. Recent developments from transmission electron microscopy (TEM; cryo-electron microscopy, electron tomography) have yielded higher resolution and fresh insights into the structure and function of these complex organelles. Microscopy in ciliated organisms, disease models, and in patients with ciliopathy diseases has dramatically expanded our understanding of the ubiquity, multisystem involvement, and importance of cilia in normal human development...
September 19, 2017: Ultrastructural Pathology
https://www.readbyqxmd.com/read/28915071/transcriptional-response-of-respiratory-epithelium-to-nontuberculous-mycobacteria
#5
Masashi Matsuyama, Andrew J Martins, Shamira Shallom, Olena Kamenyeva, Anuj Kashyap, Elizabeth P Sampaio, Juraj Kabat, Kenneth N Olivier, Adrian M Zelazny, John S Tsang, Steven M Holland
RATIONALE: The incidence of pulmonary nontuberculous mycobacterial (PNTM) disease is increasing, but host responses in respiratory epithelium infected with NTM are not fully understood. OBJECTIVE: We aimed to identify infection-relevant gene expression signatures of NTM infection of the respiratory epithelium. METHODS: We infected air-liquid interface (ALI) primary respiratory epithelial cell cultures with Mycobacterium avium subsp. avium (MAC) or Mycobacterium abscessuss subsp...
September 15, 2017: American Journal of Respiratory Cell and Molecular Biology
https://www.readbyqxmd.com/read/28915070/value-of-transmission-electron-microscopy-for-primary-ciliary-dyskinesia-diagnosis-in-the-era-of-molecular-medicine-genetic-defects-with-normal-and-non-diagnostic-ciliary-ultrastructure
#6
Adam J Shapiro, Margaret W Leigh
Primary ciliary dyskinesia (PCD) is a genetic disorder causing chronic oto-sino-pulmonary disease. No single diagnostic test will detect all PCD cases. Transmission electron microscopy (TEM) of respiratory cilia was previously considered the gold standard diagnostic test for PCD, but 30% of all PCD cases have either normal ciliary ultrastructure or subtle changes which are non-diagnostic. These cases are identified through alternate diagnostic tests, including nasal nitric oxide measurement, high-speed videomicroscopy analysis, immunofluorescent staining of axonemal proteins, and/or mutation analysis of various PCD causing genes...
September 15, 2017: Ultrastructural Pathology
https://www.readbyqxmd.com/read/28894478/diagnosis-of-primary-ciliary-dyskinesia-summary-of-the-ers-task-force-report
#7
Claudia E Kuehni, Jane S Lucas
KEY POINTS: Primary ciliary dyskinesia (PCD) is a genetically and clinically heterogeneous disease characterised by abnormal motile ciliary function.There is no "gold standard" diagnostic test for PCD.The European Respiratory Society (ERS) Task Force Guidelines for diagnosing PCD recommend that patients should be referred for diagnostic testing if they have several of the following features: persistent wet cough; situs anomalies; congenital cardiac defects; persistent rhinitis; chronic middle ear disease with or without hearing loss; or a history, in term infants, of neonatal upper and lower respiratory symptoms or neonatal intensive care admission...
September 2017: Breathe
https://www.readbyqxmd.com/read/28883651/the-role-of-transcriptional-factor-p63-in-regulation-of-epithelial-barrier-and-ciliogenesis-of-human-nasal-epithelial-cells
#8
Yakuto Kaneko, Takayuki Kohno, Takuya Kakuki, Ken-Ichi Takano, Noriko Ogasawara, Ryo Miyata, Shin Kikuchi, Takumi Konno, Tsuyoshi Ohkuni, Ryoto Yajima, Akito Kakiuchi, Shin-Ichi Yokota, Tetsuo Himi, Takashi Kojima
Disruption of nasal epithelial tight junctions (TJs) and ciliary dysfunction are found in patients with chronic rhinosinusitis (CRS) and nasal polyps (NPs), along with an increase of p63-positive basal cells and histone deacetylase (HDAC) activity. To investigate these mechanisms, primary cultures of HNECs transfected with human telomerase reverse transcriptase (hTERT-HNECs) were transfected with siRNAs of TAp63 and ΔNp63, treated with the NF-kB inhibitor curucumin and inhibitors of HDACs, and infected with respiratory syncytial virus (RSV)...
September 7, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28880986/association-of-disease-location-and-treatment-with-survival-in-diffuse-large-b-cell-lymphoma-of-the-eye-and-ocular-adnexal-region
#9
Aseef H Ahmed, C Stephen Foster, Carol L Shields
Importance: Primary diffuse large B-cell lymphoma (DLBCL) of the ocular region is rare, and the utility of surgery and radiation therapy remains unresolved. Objective: To explore the clinical characteristics and determine factors associated with overall survival in primary vitreoretinal lymphoma (PVRL) and ocular adnexal (OA)-uveal DLBCL. Design, Setting, and Participants: This retrospective analysis included 396 patients with ophthalmic DLBCL from January 1, 1973, through December 31, 2014, using the Surveillance, Epidemiology, and End Results database...
September 7, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/28877972/clinical-care-for-primary-ciliary-dyskinesia-current-challenges-and-future-directions
#10
REVIEW
Bruna Rubbo, Jane S Lucas
Primary ciliary dyskinesia (PCD) is a rare genetic disease that affects the motility of cilia, leading to impaired mucociliary clearance. It is estimated that the vast majority of patients with PCD have not been diagnosed as such, providing a major obstacle to delivering appropriate care. Challenges in diagnosing PCD include lack of disease-specific symptoms and absence of a single, "gold standard", diagnostic test. Management of patients is currently not based on high-level evidence because research findings are mostly derived from small observational studies with limited follow-up period...
September 30, 2017: European Respiratory Review: An Official Journal of the European Respiratory Society
https://www.readbyqxmd.com/read/28876961/vitamin-d-replacement-improves-tear-osmolarity-in-patients-with-vitamin-d-deficiency
#11
Muhammed Kizilgul, Seyfullah Kan, Ozgur Ozcelik, Selvihan Beysel, Mahmut Apaydin, Bekir Ucan, Erman Cakal
BACKGROUND: Vitamin D deficiency is a common health problem worldwide. Many parts of the human eye, including the epithelium of the cornea, lens, ciliary body, and retinal pigment epithelium, as well as the corneal endothelium, ganglion cell layer, and retinal photoreceptors, contain vitamin D receptor (VDR). Dry eye is also a common health problem. An adequate tear film is required for maintaining health and function of the eye. Tear hyperosmolarity is considered to be the cause of ocular surface inflammation, symptoms, and tissue damage...
September 6, 2017: Seminars in Ophthalmology
https://www.readbyqxmd.com/read/28874459/protease-activated-receptor-2-activates-airway-apical-membrane-chloride-permeability-and-increases-ciliary-beating
#12
Derek B McMahon, Alan D Workman, Michael A Kohanski, Ryan M Carey, Jenna R Freund, Benjamin M Hariri, Bei Chen, Laurel J Doghramji, Nithin D Adappa, James N Palmer, David W Kennedy, Robert J Lee
Mucociliary clearance, driven by the engine of ciliary beating, is the primary physical airway defense against inhaled pathogens and irritants. A better understanding of the regulation of ciliary beating and mucociliary transport is necessary for identifying new receptor targets to stimulate improved clearance in airway diseases, such as cystic fibrosis and chronic rhinosinusitis. In this study, we examined the protease-activated receptor (PAR)-2, a GPCR previously shown to regulate airway cell cytokine and mucus secretion, and transepithelial Cl(-) current...
September 5, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/28868284/eye-salvage-with-combination-of-intravitreal-and-intracameral-melphalan-injection-for-recurrent-retinoblastoma-with-anterior-chamber-involvement-report-of-a-case
#13
Nathalie Cassoux, Isabelle Aerts, Livia Lumbroso-Le Rouic, Paul Freneaux, Laurence Desjardins
AIMS: Herein we report successful eye salvage following combined intravitreal and intracameral administration of melphalan for anterior chamber recurrence of retinoblastoma. METHODS: A 12-month-old boy was referred with a sporadic bilateral retinoblastoma staged as group D and V in the right eye and group E and V in the left eye. Treatment initially involved 6 cycles of 3 drugs followed by focal treatments. The left eye was enucleated. Three months after the end of systemic chemotherapy, multiple recurrent lesions were noted in the ciliary body and the anterior chamber...
July 2017: Ocular Oncology and Pathology
https://www.readbyqxmd.com/read/28862184/ocular-distribution-of-antioxidant-enzyme-paraoxonase-its-alteration-in-cataractous-lens-diabetic-retina
#14
Subramaniam Rajesh Bharathidevi, Kannadasan Anand Babu, Nishit Jain, Sivashanmugam Muthukumaran, Vetrivel Umashankar, J Biswas, Narayanasamy Angayarkanni
BACKGROUND & OBJECTIVES: The enzyme paraoxonase (PON), an antioxidant enzyme that has both arylesterase and thiolactonase activity, is well studied in cardiovascular diseases. Although a few studies have shown altered PON activity in ocular diseases such as age-related macular degeneration and diabetic retinopathy, but the tissue-wise expression of PON in its three gene forms has not been studied. This study was conducted to see the ocular distribution of PON for any altered expression in ocular pathologies such as in cataract and diabetes mellitus...
April 2017: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/28843978/primary-cilia-cell-and-molecular-mechanosensors-directing-whole-tissue-function
#15
REVIEW
Milos Spasic, Christopher R Jacobs
Primary cilia are immotile, microtubule-based organelles extending from the surface of nearly every mammalian cell. Mechanical stimulation causes deflection of the primary cilium, initiating downstream signaling cascades to the rest of the cell. The cilium forms a unique subcellular microdomain, and defects in ciliary protein composition or physical structure have been associated with a myriad of human pathologies. In this review, we discuss the importance of ciliary mechanotransduction at the cell and tissue level, and how furthering our molecular understanding of primary cilia mechanobiology may lead to therapeutic strategies to treat human diseases...
August 24, 2017: Seminars in Cell & Developmental Biology
https://www.readbyqxmd.com/read/28842217/cytoskeleton-related-regulation-of-primary-cilia-shortening-mediated-by-melanin-concentrating-hormone-receptor-1
#16
Sakura Tomoshige, Yuki Kobayashi, Kosuke Hosoba, Akie Hamamoto, Tatsuo Miyamoto, Yumiko Saito
Primary cilia are specialized microtubule-based organelles. Their importance is highlighted by the gamut of ciliary diseases associated with various syndromes including diabetes and obesity. Primary cilia serve as signaling hubs through selective interactions with ion channels and conventional G-protein-coupled receptors (GPCRs). Melanin-concentrating hormone (MCH) receptor 1 (MCHR1), a key regulator of feeding, is selectively expressed in neuronal primary cilia in distinct regions of the mouse brain. We previously found that MCH acts on ciliary MCHR1 and induces cilia shortening through a Gi/o-dependent Akt pathway with no cell cycle progression...
August 23, 2017: General and Comparative Endocrinology
https://www.readbyqxmd.com/read/28819309/visualization-and-detection-of-ciliary-beating-pattern-and-frequency-in-the-upper-airway-using-phase-resolved-doppler-optical-coherence-tomography
#17
Joseph C Jing, Jason J Chen, Lidek Chou, Brian J F Wong, Zhongping Chen
Ciliary motion plays a critical role in the overall respiratory health of the upper airway. These cilia beat at a native frequency and in a synchronized pattern to continuously transport foreign particulate trapped in a layer of mucous out of the upper airway. Disruption of ciliary motion can lead to severe respiratory diseases and compromised respiratory function. Currently, the study of cilia requires expensive high speed cameras and high powered microscopes which is unsuitable for in vivo imaging and diagnosis...
August 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28814779/the-beach-protein-lrba-promotes-the-localization-of-the-heterotrimeric-g-protein-golf-to-olfactory-cilia
#18
Stefan Kurtenbach, Andreas Gießl, Siv Strömberg, Jan Kremers, Jenny Atorf, Sebastian Rasche, Eva M Neuhaus, Denis Hervé, Johann Helmut Brandstätter, Esther Asan, Hanns Hatt, Manfred W Kilimann
BEACH domain proteins are involved in membrane protein traffic and human diseases, but their molecular mechanisms are not understood. The BEACH protein LRBA has been implicated in immune response and cell proliferation, and human LRBA mutations cause severe immune deficiency. Here, we report a first functional and molecular phenotype outside the immune system of LRBA-knockout mice: compromised olfaction, manifesting in reduced electro-olfactogram response amplitude, impaired food-finding efficiency, and smaller olfactory bulbs...
August 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28808008/mathematical-model-reveals-role-of-nucleotide-signaling-in-airway-surface-liquid-homeostasis-and-its-dysregulation-in-cystic-fibrosis
#19
Conner I Sandefur, Richard C Boucher, Timothy C Elston
Mucociliary clearance is composed of three components (i.e., mucin secretion, airway surface hydration, and ciliary-activity) which function coordinately to clear inhaled microbes and other foreign particles from airway surfaces. Airway surface hydration is maintained by water fluxes driven predominantly by active chloride and sodium ion transport. The ion channels that mediate electrogenic ion transport are regulated by extracellular purinergic signals that signal through G protein-coupled receptors. These purinoreceptors and the signaling pathways they activate have been identified as possible therapeutic targets for treating lung disease...
August 29, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28800606/whole-exome-sequencing-as-a-diagnostic-tool-for-patients-with-ciliopathy-like-phenotypes
#20
Sheila Castro-Sánchez, María Álvarez-Satta, Mohamed A Tohamy, Sergi Beltran, Sophia Derdak, Diana Valverde
Ciliopathies are a group of rare disorders characterized by a high genetic and phenotypic variability, which complicates their molecular diagnosis. Hence the need to use the latest powerful approaches to faster identify the genetic defect in these patients. We applied whole exome sequencing to six consanguineous families clinically diagnosed with ciliopathy-like disease, and for which mutations in predominant Bardet-Biedl syndrome (BBS) genes had previously been excluded. Our strategy, based on first applying several filters to ciliary variants and using many of the bioinformatics tools available, allowed us to identify causal mutations in BBS2, ALMS1 and CRB1 genes in four families, thus confirming the molecular diagnosis of ciliopathy...
2017: PloS One
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