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https://www.readbyqxmd.com/read/29786190/-identification-of-a-new-mutation-of-the-nphp1-gene
#1
Antonella La Russa, Rosa Anna Cifarelli, Anna Perri, Angelo Saracino, Giovanni Santarsia, Renzo Bonofiglio
Kidney cystic diseases are inherited disorders causing chronic renal failure. According to the genetic defect they are classified as diseases of the primary ciliary complex and uromodulin-associated diseases. Mutations in genes coding for ciliary proteins are the basis of a broad category of genetic diseases, called ciliopathies. To date, three important ciliopathies are known: the autosomal dominant form and the recessive shape of the polycystic kidney and the nephronophthisis (NPHP). Juvenile Nephronophthisis (NPHP) is a progressive renal tubulo-interstitial disorder with a form of autosomal recessive inheritance that progresses inexorably towards terminal renal failure...
May 2018: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
https://www.readbyqxmd.com/read/29780936/clinical-and-pathological-correlation-of-cotton-wool-spots-in-secondary-angle-closure-glaucoma
#2
Anand Bhatt, Christine Nguyen, Sameh Mosaed, Don Minckler
Purpose: Cotton Wool Spots (CWS) are a commonly described retinal finding in the posterior segment associated with an extensive number of systemic diseases. The appearance of a CWS in the setting of glaucoma has rarely been reported and has not been correlated with pathology to localized loss of the nerve fiber layer previously. In this case report, we augment a previous report of an 18 year old female with a diagnosis of low grade ciliary body melanoma. This patient experienced eventual mechanical angle closure with a CWS appearing in the posterior pole in the setting of acute elevation of intraocular pressure (IOP)...
June 2018: American Journal of Ophthalmology Case Reports
https://www.readbyqxmd.com/read/29765944/uveal-melanoma-5-year-update-on-incidence-treatment-and-survival-seer-1973-2013
#3
Mary E Aronow, Allan K Topham, Arun D Singh
Purpose: To analyze trends in incidence, treatment, and survival of uveal melanoma in the United States from 1973 to 2013 using the Surveillance, Epidemiology, and End Results database. Materials and Methods: Patients were identified using International Classification of Disease for Oncology codes: C69.3 (choroid), C69.4 (ciliary body and iris), and C69.2 (retina). Trends in age-adjusted incidence, treatment (surgery or radiation), and 5-year relative survival were calculated...
April 2018: Ocular Oncology and Pathology
https://www.readbyqxmd.com/read/29754569/toward-personalized-medicine-in-bardet-biedl-syndrome
#4
Joanna Kenny, Elizabeth Forsythe, Philip Beales, Chiara Bacchelli
Personalized medicine is becoming routine in the treatment of common diseases such as cancer, but has lagged behind in the field of rare diseases. It is currently in the early stages for the treatment of Bardet-Biedl syndrome. Advances in the understanding of ciliary biology and diagnostic techniques have opened up the prospect of treating BBS in a patient-specific manner. Owing to their structure and function, cilia provide an attractive therapeutic target and genetic therapies are being explored in ciliopathy treatment...
September 2017: Personalized Medicine
https://www.readbyqxmd.com/read/29748385/activation-of-airway-epithelial-bitter-taste-receptors-by-pseudomonas-aeruginosa-quinolones-modulates-calcium-cyclic-amp-and-nitric-oxide-signaling
#5
Jenna R Freund, Corrine J Mansfield, Laurel J Doghramji, Nithin D Adappa, James N Palmer, David W Kennedy, Danielle R Reed, Peihua Jiang, Robert J Lee
Bitter taste receptors (T2Rs), discovered in many tissues outside the tongue, have recently become potential therapeutic targets. We showed previously that airway epithelial cells express several T2Rs that activate innate immune responses that may be important for treatment of airway diseases such as chronic rhinosinusitis. It is imperative to more clearly understand what compounds activate airway T2Rs as well as their full range of functions. T2R isoforms in airway motile cilia (T2Rs 4, 14, 16, and 38) produce bactericidal levels of nitric oxide (NO) that also increase ciliary beating, promoting clearance of mucus and trapped pathogens...
May 10, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29743676/reconstitution-reveals-motor-activation-for-intraflagellar-transport
#6
Mohamed A A Mohamed, Willi L Stepp, Zeynep Ökten
The human body represents a notable example of ciliary diversification. Extending from the surface of most cells, cilia accomplish a diverse set of tasks. Predictably, mutations in ciliary genes cause a wide range of human diseases such as male infertility and blindness. In Caenorhabditis elegans sensory cilia, this functional diversity appears to be traceable to the differential regulation of the kinesin-2-powered intraflagellar-transport (IFT) machinery. Here we reconstituted the first, to our knowledge, functional multi-component IFT complex that is deployed in the sensory cilia of C...
May 9, 2018: Nature
https://www.readbyqxmd.com/read/29742019/the-e3-ubiquitin-ligase-ubr5-regulates-centriolar-satellite-stability-and-primary-cilia
#7
Robert F Shearer, Kari-Anne Myrum Frikstad, Jessie McKenna, Rachael A McCloy, Niantao Deng, Andrew Burgess, Trond Stokke, Sebastian Patzke, Darren N Saunders
Primary cilia are crucial for signal transduction in a variety of pathways, including Hedgehog and Wnt. Disruption of primary cilia formation (ciliogenesis) is linked to numerous developmental disorders (known as ciliopathies) and diseases, including cancer. The Ubiquitin-Proteasome System (UPS) component UBR5 was previously identified as a putative positive regulator of ciliogenesis in a functional genomics screen. UBR5 is an E3 Ubiquitin ligase that is frequently deregulated in tumours, but its biological role in cancer is largely uncharacterised, partly due to a lack of understanding of interacting proteins and pathways...
May 9, 2018: Molecular Biology of the Cell
https://www.readbyqxmd.com/read/29727693/mutations-in-c11orf70-cause-primary-ciliary-dyskinesia-with-randomization-of-left-right-body-asymmetry-due-to-defects-of-outer-and-inner-dynein-arms
#8
Inga M Höben, Rim Hjeij, Heike Olbrich, Gerard W Dougherty, Tabea Nöthe-Menchen, Isabella Aprea, Diana Frank, Petra Pennekamp, Bernd Dworniczak, Julia Wallmeier, Johanna Raidt, Kim G Nielsen, Maria C Philipsen, Francesca Santamaria, Laura Venditto, Israel Amirav, Huda Mussaffi, Freerk Prenzel, Kaman Wu, Zeineb Bakey, Miriam Schmidts, Niki T Loges, Heymut Omran
Primary ciliary dyskinesia (PCD) is characterized by chronic airway disease, male infertility, and randomization of the left/right body axis as a result of defects of motile cilia and sperm flagella. We identified loss-of-function mutations in the open-reading frame C11orf70 in PCD individuals from five distinct families. Transmission electron microscopy analyses and high-resolution immunofluorescence microscopy demonstrate that loss-of-function mutations in C11orf70 cause immotility of respiratory cilia and sperm flagella, respectively, as a result of the loss of axonemal outer (ODAs) and inner dynein arms (IDAs), indicating that C11orf70 is involved in cytoplasmic assembly of dynein arms...
May 3, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29727692/c11orf70-mutations-disrupting-the-intraflagellar-transport-dependent-assembly-of-multiple-axonemal-dyneins-cause-primary-ciliary-dyskinesia
#9
Mahmoud R Fassad, Amelia Shoemark, Pierrick le Borgne, France Koll, Mitali Patel, Mellisa Dixon, Jane Hayward, Charlotte Richardson, Emily Frost, Lucy Jenkins, Thomas Cullup, Eddie M K Chung, Michel Lemullois, Anne Aubusson-Fleury, Claire Hogg, David R Mitchell, Anne-Marie Tassin, Hannah M Mitchison
Primary ciliary dyskinesia (PCD) is a genetically and phenotypically heterogeneous disorder characterized by destructive respiratory disease and laterality abnormalities due to randomized left-right body asymmetry. PCD is mostly caused by mutations affecting the core axoneme structure of motile cilia that is essential for movement. Genes that cause PCD when mutated include a group that encode proteins essential for the assembly of the ciliary dynein motors and the active transport process that delivers them from their cytoplasmic assembly site into the axoneme...
May 3, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29724910/retromer-associates-with-the-cytoplasmic-amino-terminus-of-polycystin-2
#10
Frances C Tilley, Matthew Gallon, Chong Luo, Chris M Danson, Jing Zhou, Peter J Cullen
Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic human disease, with around 12.5 million people affected worldwide. ADPKD results from mutations in either PKD1 or PKD2 , which encode the atypical G-protein coupled receptor polycystin-1 (PC1) and the transient receptor potential channel polycystin-2 (PC2) respectively. Although altered intracellular trafficking of PC1 and PC2 appear as an underlying feature of ADPKD, the mechanisms which govern vesicular transport of the polycystins through the biosynthetic and endosomal membrane networks remain to be fully elucidated...
May 3, 2018: Journal of Cell Science
https://www.readbyqxmd.com/read/29722436/cigarette-smoke-upregulates-pde3-and-pde4-to-decrease-camp-in-airway-cells
#11
Haoxiao Zuo, Bing Han, Wilfred J Poppinga, Lennard Ringnalda, Loes E M Kistemaker, Andrew J Halayko, Reinoud Gosens, Viacheslav O Nikolaev, Martina Schmidt
BACKGROUND AND PURPOSE: 3', 5'-cyclic adenosine monophosphate (cAMP) is a central second messenger that broadly regulates cell function and can underpin pathophysiology. In chronic obstructive pulmonary disease (COPD), a lung disease primarily provoked by cigarette smoke (CS), the induction of cAMP-dependent pathways, via inhibition of hydrolyzing phosphodiesterases (PDEs), is a prime therapeutic strategy. Mechanisms that disrupt cAMP signaling in airway cells, in particular regulation of endogenous PDEs are poorly understood...
May 3, 2018: British Journal of Pharmacology
https://www.readbyqxmd.com/read/29721984/more-than-meets-the-eye-current-understanding-of-rpgr-function
#12
Hemant Khanna
This article summarizes the recent advances in our understanding of a major retinal disease gene RPGR (retinitis pigmentosa GTPase regulator), mutations in which are associated with majority of X-linked forms of retinal degenerations. A great deal of work has been done to uncover the ciliary localization of RPGR and its interacting proteins in the retina. However, the molecular mechanisms of action of RPGR in the photoreceptors are still unclear. Recent studies have begun to shed light on the intracellular pathways in which RPGR is likely involved...
2018: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29718797/cep250-mutations-associated-with-mild-cone-rod-dystrophy-and-sensorineural-hearing-loss-in-a-japanese-family
#13
Daiki Kubota, Kiyoko Gocho, Sachiko Kikuchi, Keiichiro Akeo, Masahiro Miura, Kunihiko Yamaki, Hiroshi Takahashi, Shuhei Kameya
BACKGROUND: CEP250 encodes the C-Nap1 protein which belongs to the CEP family of proteins. C-Nap1 has been reported to be expressed in the photoreceptor cilia and is known to interact with other ciliary proteins. Mutations of CEP250 cause atypical Usher syndrome which is characterized by early-onset sensorineural hearing loss (SNHL) and a relatively mild retinitis pigmentosa. This study tested the hypothesis that the mild cone-rod dystrophy (CRD) and SNHL in a non-consanguineous Japanese family was caused by CEP250 mutations...
May 2, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29718757/arl2bp-a-protein-linked-to-retinitis-pigmentosa-is-needed-for-normal-photoreceptor-cilia-doublets-and-outer-segment-structure
#14
Abigail R Moye, Ratnesh Singh, Victoria A Kimler, Tanya L Dilan, Daniella Munezero, Thamaraiselvi Saravanan, Andrew F X Goldberg, Visvanathan Ramamurthy
The outer segment (OS) of photoreceptor cells is an elaboration of a primary cilium with organized stacks of membranous discs that contain the proteins needed for phototransduction and vision. Though cilia formation and function has been well characterized, little is known about the role of cilia in the development of photoreceptor OS. Nevertheless, progress has been made by studying mutations in ciliary proteins which often result in malformed outer segments and lead to blinding diseases. To investigate how ciliary proteins contribute to outer segment formation, we generated a knockout mouse model for ARL2BP, a ciliary protein linked to Retinitis Pigmentosa...
May 2, 2018: Molecular Biology of the Cell
https://www.readbyqxmd.com/read/29717060/cell-cell-communication-via-ciliary-extracellular-vesicles-clues-from-model-systems
#15
REVIEW
Juan Wang, Maureen M Barr
In this short review, we will focus on the uniqueness of ciliary extracellular vesicles (EVs). In particular, we will review what has been learned regarding EVs produced by cilia of model organisms. Model systems including Chlamydomonas, Caenorhabditis elegans , and mouse revealed the fundamental biology of cilia and flagella and provide a paradigm to understand the roles of cilia and flagella in human development, health, and disease. Likewise, we propose that general principles learned from model systems regarding ciliary EV biogenesis and functions may provide a framework to explore the roles of ciliary EVs in human development, health, and disease...
May 1, 2018: Essays in Biochemistry
https://www.readbyqxmd.com/read/29710740/a-comparative-study-to-determine-the-optimal-intravitreal-injection-angle-to-the-eye-a-computational-fluid-structure-interaction-model
#16
Alireza Karimi, Reza Razaghi, Hasan Biglari, Hamideh Sabbaghi, Toshihiro Sera, Susumu Kudo
This study was aimed at investigating the role of IVI angle on the induced stresses and deformations among the components of the eye. Thereafter, the most optimal angle of IVI to minimize the complications of post IVI at the injection site on a basis of the computed stresses via a Fluid-Structure Interaction (FSI) computational model was proposed. IntraVitreal Injection (IVI) is broadly employed as a principal treatment of vascular vitro-retinal diseases. So far, there have been reports regarding the complications of post IVI and determine them as severe uveitis, tractional retinal detachment, IntraOcular Pressure (IOP) elevation as well as ocular haemorrhage...
April 20, 2018: Technology and Health Care: Official Journal of the European Society for Engineering and Medicine
https://www.readbyqxmd.com/read/29676620/interleukin-13-stimulation-reveals-the-cellular-and-functional-plasticity-of-the-airway-epithelium
#17
Max A Seibold
About 50% of patients with asthma exhibit chronic airway inflammation driven by the type 2 cytokines interleukin (IL)-4, IL-5, and IL-13. These patients with type 2-high asthma experience more allergic symptoms, greater airway hyperresponsiveness, and more severe mucus obstruction than patients with type 2-low asthma. Mouse models of asthma have shown that much of the airway dysfunction in these models can be generated by IL-13 stimulation of the airway epithelium alone. Both in vivo mouse model studies and in vitro studies of human mucociliary airway epithelial cultures have shown that IL-13 induces cellular remodeling of the airway epithelium through proliferation-independent transdifferentiation processes...
April 2018: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/29658880/crystal-structure-of-intraflagellar-transport-protein-80-reveals-a-homo-dimer-required-for-ciliogenesis
#18
Michael Taschner, Anna Lorentzen, André Mourão, Toby Collins, Grace M Freke, Dale Moulding, Jerome Basquin, Dagan Jenkins, Esben Lorentzen
Oligomeric assemblies of intraflagellar transport (IFT) particles build cilia through sequential recruitment and transport of ciliary cargo proteins within cilia. Here we present the 1.8Å resolution crystal structure of the Chlamydomonas IFT-B protein IFT80, which reveals the architecture of two N-terminal b-propellers followed by an a-helical extension. The N-terminal b-propeller tethers IFT80 to the IFT-B complex via IFT38 whereas the second b-propeller and the C-terminal a-helical extension result in IFT80 homo-dimerization...
April 16, 2018: ELife
https://www.readbyqxmd.com/read/29653013/-progress-of-research-on-bardet-biedl-syndrome
#19
Peng Zeng, Tao Shen
Bardet-Biedl syndrome (BBS) is a rare genetic disease caused by ciliary structure abnormality or dysfunction. To date, more than 21 BBS genes (BBS1 - 21) have been reported to independently cause the disorder. Although the cellular functions of BBS proteins are not yet fully understood, model organisms have revealed that such proteins are involved in ciliary functions and intracellular transport. Among the 21 BBS genes, BBS7 is unique in that its product is a subunit of the BBSome and can directly interact with the BBS chaperonin complex...
April 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29650680/cell-type-specific-regulation-of-ciliary-transition-zone-assembly-in-vertebrates
#20
Antonia Wiegering, Renate Dildrop, Lisa Kalfhues, André Spychala, Stefanie Kuschel, Johanna Maria Lier, Thomas Zobel, Stefanie Dahmen, Tristan Leu, Andreas Struchtrup, Flora Legendre, Christine Vesque, Sylvie Schneider-Maunoury, Sophie Saunier, Ulrich Rüther, Christoph Gerhardt
Ciliopathies are life-threatening human diseases caused by defective cilia. They can often be traced back to mutations of genes encoding transition zone (TZ) proteins demonstrating that the understanding of TZ organisation is of paramount importance. The TZ consists of multimeric protein modules that are subject to a stringent assembly hierarchy. Previous reports place Rpgrip1l at the top of the TZ assembly hierarchy in Caenorhabditis elegans By performing quantitative immunofluorescence studies in RPGRIP1L-/- mouse embryos and human embryonic cells, we recognise a different situation in vertebrates in which Rpgrip1l deficiency affects TZ assembly in a cell type-specific manner...
April 12, 2018: EMBO Journal
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