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Ciliary disease

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https://www.readbyqxmd.com/read/28236036/functional-diversity-of-ciliary-proteins-in-bone-development-and-disease
#1
REVIEW
Masaru Kaku, Yoshihiro Komatsu
PURPOSE OF REVIEW: The primary cilium is a non-motile microtubule-based organelle that senses a diverse range of extracellular signals. While recent studies highlight the importance of ciliary-dependent developmental signals, including Hedgehog, Wnt, and platelet-derived growth factor, it is not well understood whether and how bone morphogenetic protein (BMP) signaling, a key regulator of skeletogenesis, is involved in cilia-related bone developmental aspects and in the etiology of skeletal disorders...
February 24, 2017: Current Osteoporosis Reports
https://www.readbyqxmd.com/read/28231402/ex-vivo-visualization-of-human-ciliated-epithelium-and-quantitative-analysis-of-induced-flow-dynamics-by-using-optical-coherence-tomography
#2
Yuye Ling, Xinwen Yao, Ute A Gamm, Emilio Arteaga-Solis, Charles W Emala, Michael A Choma, Christine P Hendon
BACKGROUND AND OBJECTIVE: Cilia-driven mucociliary clearance is an important self-defense mechanism of great clinical importance in pulmonary research. Conventional light microscopy possesses the capability to visualize individual cilia and its beating pattern but lacks the throughput to assess the global ciliary activities and flow dynamics. Optical coherence tomography (OCT), which provides depth-resolved cross-sectional images, was recently introduced to this area. MATERIALS AND METHODS: Fourteen de-identified human tracheobronchial tissues are directly imaged by two OCT systems: one system centered at 1,300 nm with 6...
February 23, 2017: Lasers in Surgery and Medicine
https://www.readbyqxmd.com/read/28221333/idiopathic-bilateral-profound-hypotony-in-an-unknown-progressive-neurodegenerative-disorder
#3
Lorraine M Provencher, Pamela C Carter, Wallace L M Alward
PURPOSE: To present a unique case of idiopathic bilateral hypotony in a patient with progressive, undiagnosed neurological decline, possibly due to mitochondrial disease, and to explore mechanisms of disease and potential treatment options. METHODS: This is a case report. PATIENT: A 17-year-old boy with a history of chronic progressive bilateral vision loss and hypotony in the setting of progressive gait abnormalities, lower extremity spasticity, nystagmus, and urinary retention starting around age 8...
February 17, 2017: Journal of Glaucoma
https://www.readbyqxmd.com/read/28203054/uveal-melanoma-epidemiology-etiology-and-treatment-of-primary-disease
#4
REVIEW
Benjamin A Krantz, Nikita Dave, Kimberly M Komatsubara, Brian P Marr, Richard D Carvajal
Uveal melanoma (UM) is the most common intraocular malignancy and arises from melanocytes in the iris, ciliary body, or choroid. Early diagnosis and local treatment is crucial, as survival correlates with primary tumor size. However, approximately 50% of patients will develop metastatic disease with 6-12 months' survival from metastatic diagnosis. Genomic analyses have led to the development of gene-expression profiles that effectively predict metastatic progression; unfortunately, no adjuvant therapy has been shown to prolong survival to date...
2017: Clinical Ophthalmology
https://www.readbyqxmd.com/read/28199173/accuracy-of-immunofluorescence-in-the-diagnosis-of-primary-ciliary-dyskinesia
#5
Amelia Shoemark, Emily Frost, Mellisa Dixon, Sarah Ollosson, Kate Kilpin, Mitali Patel, Juliet Scully, Andrew V Rogers, Hannah M Mitchison, Andrew Bush, Claire Hogg
Rationale The standard approach to diagnosis of primary ciliary dyskinesia (PCD) in the UK consists of assessing ciliary function by high-speed-microscopy and ultrastructure by election microscopy, but equipment and expertise is not widely available internationally. The identification of bi-allelic disease causing mutations is also diagnostic, but many disease causing genes are unknown, and testing is not widely available outside the USA. Fluorescent antibodies to ciliary proteins are used to validate research genetic studies, but diagnostic utility in this disease has not been systematically evaluated...
February 15, 2017: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/28180024/ciliopathies-genetics-in-pediatric-medicine
#6
REVIEW
Machteld M Oud, Ideke J C Lamers, Heleen H Arts
Ciliary disorders, which are also referred to as ciliopathies, are a group of hereditary disorders that result from dysfunctional cilia. The latter are cellular organelles that stick up from the apical plasma membrane. Cilia have important roles in signal transduction and facilitate communications between cells and their surroundings. Ciliary disruption can result in a wide variety of clinically and genetically heterogeneous disorders with overlapping phenotypes. Because cilia occur widespread in our bodies many organs and sensory systems can be affected when they are dysfunctional...
March 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28159874/cilia-and-ciliopathies-in-congenital-heart-disease
#7
Nikolai T Klena, Brian C Gibbs, Cecilia W Lo
A central role for cilia in congenital heart disease (CHD) was recently identified in a large-scale mouse mutagenesis screen. Although the screen was phenotype-driven, the majority of genes recovered were cilia-related, suggesting that cilia play a central role in CHD pathogenesis. This partly reflects the role of cilia as a hub for cell signaling pathways regulating cardiovascular development. Consistent with this, many cilia-transduced cell signaling genes were also recovered, and genes regulating vesicular trafficking, a pathway essential for ciliogenesis and cell signaling...
February 3, 2017: Cold Spring Harbor Perspectives in Biology
https://www.readbyqxmd.com/read/28158906/reduced-primary-cilia-length-and-altered-arl13b-expression-are-associated-with-deregulated-chondrocyte-hedgehog-signalling-in-alkaptonuria
#8
Stephen D Thorpe, Silvia Gambassi, Clare L Thompson, Charmilie Chandrakumar, Annalisa Santucci, Martin M Knight
Alkaptonuria (AKU) is a rare inherited disease resulting from a deficiency of the enzyme homogentisate 1,2-dioxygenase which leads to the accumulation of homogentisic acid (HGA). AKU is characterised by severe cartilage degeneration, similar to that observed in osteoarthritis. Previous studies suggest that AKU is associated with alterations in cytoskeletal organisation which could modulate primary cilia structure/function. This study investigated whether AKU is associated with changes in chondrocyte primary cilia and associated Hedgehog signalling which mediates cartilage degradation in osteoarthritis...
February 3, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/28157424/a-rho-associated-kinase-inhibitor-protects-permeability-in-a-cell-culture-model-of-ocular-disease-and-reduces-aqueous-flare-in-anterior-uveitis
#9
Hiroshi Yamada, Masahiko Yoneda, Shingo Inaguma, Masahiko Gosho, Yusuke Murasawa, Zenzo Isogai, Masahiro Zako
PURPOSE: Recent clinical and experimental studies have reported favorable results when using Rho-associated kinase (ROCK) inhibitors for ocular disease, and in cell culture. Disruption of the human, nonpigmented ciliary epithelial cells (HNPCECs) that comprise the blood-aqueous barrier (BAB) induces anterior uveitis; these cells therefore provide a useful cell model of ocular disease. In this study, we examined the effects of ROCK inhibitors in anterior uveitis and in HNPCECs. METHODS: Aqueous flare values and intraocular pressures (IOPs) were determined in patients with anterior uveitis, 2 weeks after administration of ripasudil hydrochloride hydrate, a commercial ROCK inhibitor used to treat glaucoma or ocular hypertension...
February 3, 2017: Journal of Ocular Pharmacology and Therapeutics
https://www.readbyqxmd.com/read/28154160/tubby-family-proteins-are-adapters-for-ciliary-trafficking-of-integral-membrane-proteins
#10
Hemant B Badgandi, Sun-Hee Hwang, Issei S Shimada, Evan Loriot, Saikat Mukhopadhyay
The primary cilium is a paradigmatic organelle for studying compartmentalized signaling; however, unlike soluble protein trafficking, processes targeting integral membrane proteins to cilia are poorly understood. In this study, we determine that the tubby family protein TULP3 functions as a general adapter for ciliary trafficking of structurally diverse integral membrane cargo, including multiple reported and novel rhodopsin family G protein-coupled receptors (GPCRs) and the polycystic kidney disease-causing polycystin 1/2 complex...
February 2, 2017: Journal of Cell Biology
https://www.readbyqxmd.com/read/28152038/exome-sequencing-covers-98-of-mutations-identified-on-targeted-next-generation-sequencing-panels
#11
Holly LaDuca, Kelly D Farwell, Huy Vuong, Hsiao-Mei Lu, Wenbo Mu, Layla Shahmirzadi, Sha Tang, Jefferey Chen, Shruti Bhide, Elizabeth C Chao
BACKGROUND: With the expanded availability of next generation sequencing (NGS)-based clinical genetic tests, clinicians seeking to test patients with Mendelian diseases must weigh the superior coverage of targeted gene panels with the greater number of genes included in whole exome sequencing (WES) when considering their first-tier testing approach. Here, we use an in silico analysis to predict the analytic sensitivity of WES using pathogenic variants identified on targeted NGS panels as a reference...
2017: PloS One
https://www.readbyqxmd.com/read/28134340/kif13b-establishes-a-cav1-enriched-microdomain-at-the-ciliary-transition-zone-to-promote-sonic-hedgehog-signalling
#12
Kenneth B Schou, Johanne B Mogensen, Stine K Morthorst, Brian S Nielsen, Aiste Aleliunaite, Andrea Serra-Marques, Nicoline Fürstenberg, Sophie Saunier, Albane A Bizet, Iben R Veland, Anna Akhmanova, Søren T Christensen, Lotte B Pedersen
Ciliary membrane composition is controlled by transition zone (TZ) proteins such as RPGRIP1, RPGRIPL and NPHP4, which are vital for balanced coordination of diverse signalling systems like the Sonic hedgehog (Shh) pathway. Activation of this pathway involves Shh-induced ciliary accumulation of Smoothened (SMO), which is disrupted by disease-causing mutations in TZ components. Here we identify kinesin-3 motor protein KIF13B as a novel member of the RPGRIP1N-C2 domain-containing protein family and show that KIF13B regulates TZ membrane composition and ciliary SMO accumulation...
January 30, 2017: Nature Communications
https://www.readbyqxmd.com/read/28122863/alternative-inert-gas-washout-outcomes-in-patients-with-primary-ciliary-dyskinesia
#13
Sylvia Nyilas, Anne Schlegtendal, Florian Singer, Myrofora Goutaki, Claudia E Kuehni, Carmen Casaulta, Philipp Latzin, Cordula Koerner-Rettberg
The lung clearance index (LCI) derived from a nitrogen multiple breath washout test (N2-MBW) is a promising tool to assess small airways disease in primary ciliary dyskinesia, but it is difficult to apply in routine clinical settings because of its long measuring time. In this study, we aimed to assess alternative indices derived from shorter washout protocols.49 patients with primary ciliary dyskinesia (mean age 14.7±6.6 years) and 37 controls (mean age 14.3±1.4 years) performed N2-MBW and double-tracer gas (DTG) single-breath washout tests...
January 2017: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/28121955/childhood-recurrent-pneumonia-caused-by-endobronchial-sutures-a-case-report
#14
Yiheng Zan, Hanmin Liu, Lin Zhong, Li Qiu, Qingfen Tao, Lina Chen
BACKGROUND: Recurrent pneumonia is defined as more than two episodes of pneumonia in one year or three or more episodes anytime in life. Common clinical scenarios leading to recurrent pneumonia include anatomical abnormalities of respiratory tract, immunodeficiency, congenital heart diseases, primary ciliary dyskinesia, etc. CASE REPORT: A school-aged girl suffered from 1-2 episodes of pneumonia each year after trachea connection and lung repair operation resulted from an accident of car crash...
January 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28118936/etiology-of-bronchiectasis-in-a-cohort-of-2047-patients-an-analysis-of-the-spanish-historical-bronchiectasis-registry
#15
Casilda Olveira, Alicia Padilla, Miguel-Ángel Martínez-García, David de la Rosa, Rosa-María Girón, Montserrat Vendrell, Luis Máiz, Luis Borderías, Eva Polverino, Eva Martínez-Moragón, Olga Rajas, Francisco Casas, Rosa Cordovilla, Javier de Gracia
INTRODUCTION: Bronchiectasis is caused by many diseases. Establishing its etiology is important for clinical and prognostic reasons. The aim of this study was to evaluate the etiology of bronchiectasis in a large patient sample and its possible relationship with demographic, clinical or severity factors, and to analyze differences between idiopathic disease, post-infectious disease, and disease caused by other factors. METHODS: Multicenter, cross-sectional study of the SEPAR Spanish Historical Registry (RHEBQ-SEPAR)...
January 21, 2017: Archivos de Bronconeumología
https://www.readbyqxmd.com/read/28108847/airway-mucus-inflammation-and-remodeling-emerging-links-in-the-pathogenesis-of-chronic-lung-diseases
#16
REVIEW
Zhe Zhou-Suckow, Julia Duerr, Matthias Hagner, Raman Agrawal, Marcus A Mall
Airway mucus obstruction is a hallmark of many chronic lung diseases including rare genetic disorders such as cystic fibrosis (CF) and primary ciliary dyskinesia, as well as common lung diseases such as asthma and chronic obstructive pulmonary disease (COPD), which have emerged as a leading cause of morbidity and mortality worldwide. However, the role of excess airway mucus in the in vivo pathogenesis of these diseases remains poorly understood. The generation of mice with airway-specific overexpression of epithelial Na(+) channels (ENaC), exhibiting airway surface dehydration (mucus hyperconcentration), impaired mucociliary clearance (MCC) and mucus plugging, led to a model of muco-obstructive lung disease that shares key features of CF and COPD...
January 20, 2017: Cell and Tissue Research
https://www.readbyqxmd.com/read/28096734/chest-ct-features-of-cystic-fibrosis-in-korea-comparison-with-non-cystic-fibrosis-diseases
#17
So Yeon Yang, Kyung Soo Lee, Min Jae Cha, Tae Jung Kim, Tae Sung Kim, Hyun Jung Yoon
OBJECTIVE: Cystic fibrosis (CF) is a rare congenital disease in Korea, and its clinical and imaging findings are unclear. The objective of our study was to describe the clinical and CT features of CF in Korea and compare its features with those of other diseases mimicking CF. MATERIALS AND METHODS: From November 1994 to December 2014, a presumptive diagnosis of CF was made in 23 patients based on clinical or radiological examination. After the exclusion of 10 patients without diagnostic confirmation, 13 patients were included in the study...
January 2017: Korean Journal of Radiology: Official Journal of the Korean Radiological Society
https://www.readbyqxmd.com/read/28096286/diagnosis-of-primary-ciliary-dyskinesia-potential-options-for-resource-limited-countries
#18
REVIEW
Nisreen Rumman, Claire Jackson, Samuel Collins, Patricia Goggin, Janice Coles, Jane S Lucas
Primary ciliary dyskinesia is a genetic disease of ciliary function leading to chronic upper and lower respiratory tract symptoms. The diagnosis is frequently overlooked because the symptoms are nonspecific and the knowledge about the disease in the primary care setting is poor. Additionally, none of the available tests is accurate enough to be used in isolation. These tests are expensive, and need sophisticated equipment and expertise to analyse and interpret results; diagnosis is therefore only available at highly specialised centres...
January 2017: European Respiratory Review: An Official Journal of the European Respiratory Society
https://www.readbyqxmd.com/read/28095645/what-we-can-learn-from-a-tadpole-about-ciliopathies-and-airway-diseases-using-systems-biology-in-xenopus-to-study-cilia-and-mucociliary-epithelia
#19
REVIEW
Peter Walentek, Ian K Quigley
Over the past years, the Xenopus embryo has emerged as an incredibly useful model organism for studying the formation and function of cilia and ciliated epithelia in vivo. This has led to a variety of findings elucidating the molecular mechanisms of ciliated cell specification, basal body biogenesis, cilia assembly, and ciliary motility. These findings also revealed the deep functional conservation of signaling, transcriptional, post-transcriptional, and protein networks employed in the formation and function of vertebrate ciliated cells...
January 2017: Genesis: the Journal of Genetics and Development
https://www.readbyqxmd.com/read/28095050/the-expressions-of-klotho-family-genes-in-human-ocular-tissues-and-in-anterior-lens-capsules-of-age-related-cataract
#20
Yu Zhang, Liya Wang, Zhong Wu, Xiaolin Yu, Xiaofeng Du, Xiaohua Li
PURPOSE: Klotho genes are expressed in limited tissues and have been found to be a pathogenic factor of age-related diseases in mammals, but their expressions and functions in human eyes are yet to be defined. This study was performed to investigate the expression of Klotho family genes in human ocular tissues and anterior lens capsules of age-related cataract. METHODS: Individual tissues were isolated from human eyeballs collected from Henan Eye Bank. Human anterior lens capsules were collected from cortical cataract patients during phacoemulsification with the informed consent...
January 17, 2017: Current Eye Research
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