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https://www.readbyqxmd.com/read/28340353/molecular-structure-of-the-human-cftr-ion-channel
#1
Fangyu Liu, Zhe Zhang, László Csanády, David C Gadsby, Jue Chen
The cystic fibrosis transmembrane conductance regulator (CFTR) is an ATP-binding cassette (ABC) transporter that uniquely functions as an ion channel. Here, we present a 3.9 Å structure of dephosphorylated human CFTR without nucleotides, determined by electron cryomicroscopy (cryo-EM). Close resemblance of this human CFTR structure to zebrafish CFTR under identical conditions reinforces its relevance for understanding CFTR function. The human CFTR structure reveals a previously unresolved helix belonging to the R domain docked inside the intracellular vestibule, precluding channel opening...
March 23, 2017: Cell
https://www.readbyqxmd.com/read/28325787/impaired-defenses-of-neonatal-mouse-alveolar-macrophage-with-cftr-deletion-are-modulated-by-glutathione-and-tgf%C3%AE-1
#2
Theresa W Gauthier, Jocelyn R Grunwell, Xiao-Du Ping, Frank L Harris, Lou Ann S Brown
Our understanding of the intrinsic effects of cystic fibrosis (CF) transmembrane conductance regulator (cftr) deletion on resident neonatal alveolar macrophage (AM) remains limited. We previously demonstrated that diminished glutathione (GSH) or excessive AM transforming growth factor beta one (TGFβ1) contributes to AM dysfunction in a variety of disease states. In this study, using a gut-corrected cftr neonatal knockout (KO) mouse model and a siRNA-manipulated macrophage-like cell line (THP-1 cell), we hypothesized (1) that cftr mutation alone increases neonatal AM oxidant stress and cellular TGFβ1 signaling via altered GSH, thereby impairing cellular function, and (2) that exogenous GSH attenuates AM alterations and dysfunction in the KO AM In neonatal KO mice, the baseline bronchoalveolar lavage fluid demonstrated a near doubling in mixed disulfides (P ≤ 0...
March 2017: Physiological Reports
https://www.readbyqxmd.com/read/28325531/real-life-initiation-of-lumacaftor-ivacaftor-combination-in-adults-with-cystic-fibrosis-homozygous-for-the-phe508del-cftr-mutation-and-severe-lung-disease
#3
Dominique Hubert, Raphaël Chiron, Boubou Camara, Dominique Grenet, Anne Prévotat, Laurence Bassinet, Stéphane Dominique, Gilles Rault, Julie Macey, Isabelle Honoré, Reem Kanaan, Sylvie Leroy, Nadine Desmazes Dufeu, Pierre-Régis Burgel
OBJECTIVE: To investigate the short-term adverse events and effectiveness of lumacaftor/ivacaftor combination treatment in adults with cystic fibrosis (CF) and severe lung disease in a real life setting. METHODS: A multicentre observational study investigated adverse events, treatment discontinuation, FEV1 and body mass index (BMI) one month and three months after lumacaftor/ivacaftor initiation in adults with CF and FEV1 below 40% predicted. RESULTS: Respiratory adverse events (AEs) were reported by 27 of 53 subjects (51%) and 16 (30%) discontinued treatment...
March 15, 2017: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
https://www.readbyqxmd.com/read/28320629/is-acute-recurrent-pancreatitis-in-children-a-precursor-of-chronic-pancreatitis-a-long-term-follow-up-study-of-93-cases
#4
Ujjal Poddar, Surender K Yachha, Vibhor Borkar, Anshu Srivastava
BACKGROUND/AIMS: In view of paucity of literature we analyzed our experience of acute recurrent pancreatitis (ARP) to study clinical profile and long-term outcome. METHODS: Over 13 years, 93 consecutive children (≤18 years) diagnosed to have ARP were included in this study. Magnetic resonance cholangiopancreatography was done at baseline and on follow-up. Common mutations for serine-protease-inhibitor (SPINK1 N34S), protease inhibitor (PRSS1 R122S) and cystic fibrosis transmembrane conductance regulator (CFTR deltaF508, 5T) were studied in 22 idiopathic cases...
March 6, 2017: Digestive and Liver Disease
https://www.readbyqxmd.com/read/28314540/technological-advances-shed-light-on-left-ventricular-cardiac-disturbances-in-cystic-fibrosis
#5
REVIEW
Zahra N Sayyid, Zachary M Sellers
Cystic fibrosis (CF), the most common autosomal recessive lethal disease in Caucasians, causes chronic pulmonary disease and can lead to cor pulmonale with right ventricular dysfunction. The presence of the cystic fibrosis transmembrane conductance regulator (CFTR) in cardiac myocardia has prompted debate regarding possible defective ion channel-induced cardiomyopathy. Clinical heart disease in CF is considered rare and is restricted to case reports. It has been unclear if this is due to the lack of physiological importance of CFTR in the heart, the relatively short lifespan of those with CF, or a technical inability to detect subclinical disease...
March 14, 2017: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
https://www.readbyqxmd.com/read/28300821/impact-of-cftr-modulation-on-intestinal-ph-motility-and-clinical-outcomes-in-patients-with-cystic-fibrosis-and-the-g551d-mutation
#6
Daniel Gelfond, Sonya Heltshe, Changxing Ma, Steven M Rowe, Carla Frederick, Ahmet Uluer, Leonard Sicilian, Michael Konstan, Elizabeth Tullis, R N Christine Roach, Katherine Griffin, Elizabeth Joseloff, Drucy Borowitz
OBJECTIVES: A defect in bicarbonate secretion contributes to the pathophysiology of gastrointestinal complications in patients with cystic fibrosis (CF). We measured gastrointestinal pH, clinical outcomes, and intestinal transit profiles in patients with the G551D mutation before and after treatment with ivacaftor, a CF transmembrane regulator channel (CFTR) potentiator. METHODS: Observational studies of ivacaftor effectiveness were conducted in the United States and Canada...
March 16, 2017: Clinical and Translational Gastroenterology
https://www.readbyqxmd.com/read/28293191/an-exploration-of-charge-compensating-ion-channels-across-the-phagocytic-vacuole-of-neutrophils
#7
Juliet R Foote, Philippe Behe, Mathew Frampton, Adam P Levine, Anthony W Segal
Neutrophils phagocytosing bacteria and fungi exhibit a burst of non-mitochondrial respiration that is required to kill and digest the engulfed microbes. This respiration is accomplished by the movement of electrons across the wall of the phagocytic vacuole by the neutrophil NADPH oxidase, NOX2. In this study, we have attempted to identify the non-proton ion channels or transporters involved in charge compensation by examining the effect of inhibitors on vacuolar pH and cross-sectional area, and on oxygen consumption...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28289476/dna-methylation-at-modifier-genes-of-lung-disease-severity-is-altered-in-cystic-fibrosis
#8
Milena Magalhães, Isabelle Rivals, Mireille Claustres, Jessica Varilh, Mélodie Thomasset, Anne Bergougnoux, Laurent Mely, Sylvie Leroy, Harriet Corvol, Loïc Guillot, Marlène Murris, Emmanuelle Beyne, Davide Caimmi, Isabelle Vachier, Raphaël Chiron, Albertina De Sario
BACKGROUND: Lung disease progression is variable among cystic fibrosis (CF) patients and depends on DNA mutations in the CFTR gene, polymorphic variations in disease modifier genes, and environmental exposure. The contribution of genetic factors has been extensively investigated, whereas the mechanism whereby environmental factors modulate the lung disease is unknown. In this project, we hypothesized that (i) reiterative stress alters the epigenome in CF-affected tissues and (ii) DNA methylation variations at disease modifier genes modulate the lung function in CF patients...
2017: Clinical Epigenetics
https://www.readbyqxmd.com/read/28289144/staphylococcus-aureus-survives-in-cystic-fibrosis-macrophages-forming-a-reservoir-for-chronic-pneumonia
#9
Cao Li, Yuqing Wu, Andrea Riehle, Jie Ma, Markus Kamler, Erich Gulbins, Heike Grassmé
Staphylococcus aureus (S. aureus) plays an important role in sepsis, pneumonia, wound infections and cystic fibrosis (CF), which is caused by mutations of the cystic fibrosis transmembrane conductance regulator (Cftr). Pulmonary S. aureus infections in CF often occur very early and prior to colonization with other pathogens, in particular Pseudomonas aeruginosa Here, we demonstrate that CF mice are highly susceptible to pulmonary infections with S. aureus and fail to clear the pathogen during infection. S. aureus is internalized by Cftr-deficient macrophages in the lung, but these macrophages are unable to kill intracellular bacteria...
March 13, 2017: Infection and Immunity
https://www.readbyqxmd.com/read/28287550/forskolin-induced-swelling-in-intestinal-organoids-an-in-vitro-assay-for-assessing-drug-response-in-cystic-fibrosis-patients
#10
Sylvia F Boj, Annelotte M Vonk, Marvin Statia, Jinyi Su, Robert R G Vries, Jeffrey M Beekman, Hans Clevers
Recently-developed cystic fibrosis transmembrane conductance regulator (CFTR)-modulating drugs correct surface expression and/or function of the mutant CFTR channel in subjects with cystic fibrosis (CF). Identification of subjects that may benefit from these drugs is challenging because of the extensive heterogeneity of CFTR mutations, as well as other unknown factors that contribute to individual drug efficacy. Here, we describe a simple and relatively rapid assay for measuring individual CFTR function and response to CFTR modulators in vitro...
February 11, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28284527/feasibility-of-placebo-controlled-trial-designs-for-new-cftr-modulator-evaluation
#11
Donald R VanDevanter, Nicole Mayer-Hamblett, Michael Boyle
BACKGROUND: New CFTR modulators are in development that sponsors anticipate will be comparable or superior to approved modulators. Testing these agents for efficacy will require either placebo-controlled or active-comparator trials. METHODS: We surveyed US CF physicians and their patients eligible to receive approved modulators or their families for willingness to participate in placebo-controlled modulator trials of varying duration. RESULTS: Interest in placebo-controlled trials of short duration (2-4weeks) was greatest, with few respondents, particularly among patient respondents, willing to consider 6month studies...
March 8, 2017: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
https://www.readbyqxmd.com/read/28283067/transporters-revealed
#12
Jyh-Yeuan Lee, Daniel M Rosenbaum
The subfamily C ATP-binding cassette (ABCC) transporters mediate multidrug resistance and ion conductance regulation. Recent atomic or near-atomic resolution structures of three physiologically significant ABCC transporters (MRP1, SUR1, and CFTR), determined by using single-particle cryo-electron microscopy (cryo-EM), reveal structural details that help explain the wide functional diversity of this ABC transporter subfamily.
March 9, 2017: Cell
https://www.readbyqxmd.com/read/28279152/the-altered-gut-microbiota-in-adults-with-cystic-fibrosis
#13
D G Burke, F Fouhy, M J Harrison, M C Rea, P D Cotter, O O'Sullivan, C Stanton, C Hill, F Shanahan, B J Plant, R P Ross
BACKGROUND: Cystic Fibrosis (CF) is an autosomal recessive disease that affects the function of a number of organs, principally the lungs, but also the gastrointestinal tract. The manifestations of cystic fibrosis transmembrane conductance regulator (CFTR) dysfunction in the gastrointestinal tract, as well as frequent antibiotic exposure, undoubtedly disrupts the gut microbiota. To analyse the effects of CF and its management on the microbiome, we compared the gut microbiota of 43 individuals with CF during a period of stability, to that of 69 non-CF controls using 454-pyrosequencing of the 16S rRNA gene...
March 9, 2017: BMC Microbiology
https://www.readbyqxmd.com/read/28276824/clinical-profile-and-treatment-outcome-of-chronic-pancreatitis-in-children-a-long-term-follow-up-study-of-156-cases
#14
Ujjal Poddar, Surender Kumar Yachha, Vibhor Borkar, Anshu Srivastava, Vivek A Saraswat
AIM: There is a paucity of literature in pediatric chronic pancreatitis (CP) and most information is derived from adult literature. We, therefore, analyzed our experience of CP to look for clinical profile and long-term outcome. METHODS: From January 2003 to December 2015, 156 consecutive children (≤18 years) diagnosed as CP were included. Their clinical profile, management, and follow-up data were retrieved. Genetic markers (PRSS1, SPINK1, and CFTR) were studied in 40 idiopathic cases...
March 1, 2017: Scandinavian Journal of Gastroenterology
https://www.readbyqxmd.com/read/28273890/cftr-is-involved-in-the-regulation-of-glucagon-secretion-in-human-and-rodent-alpha-cells
#15
Anna Edlund, Morten Gram Pedersen, Andreas Lindqvist, Nils Wierup, Malin Flodström-Tullberg, Lena Eliasson
Glucagon is the main counterregulatory hormone in the body. Still, the mechanism involved in the regulation of glucagon secretion from pancreatic alpha cells remains elusive. Dysregulated glucagon secretion is common in patients with Cystic Fibrosis (CF) that develop CF related diabetes (CFRD). CF is caused by a mutation in the Cl(-) channel Cystic fibrosis transmembrane conductance regulator (CFTR), but whether CFTR is present in human alpha cells and regulate glucagon secretion has not been investigated in detail...
December 2017: Scientific Reports
https://www.readbyqxmd.com/read/28270008/gene-delivery-to-the-lungs-pulmonary-gene-therapy-for-cystic-fibrosis
#16
Ilia Villate-Beitia, Jon Zarate, Gustavo Puras, José Luis Pedraz
Cystic fibrosis (CF) is a monogenic autosomal recessive disorder where the defective gene, the cystic fibrosis transmembrane conductance regulator (CFTR), is well identified. Moreover, the respiratory tract can be targeted through noninvasive aerosolized formulations for inhalation. Therefore, gene therapy is considered a plausible strategy to address this disease. Conventional gene therapy strategies rely on the addition of a correct copy of the CFTR gene into affected cells in order to restore the channel activity...
March 7, 2017: Drug Development and Industrial Pharmacy
https://www.readbyqxmd.com/read/28264886/cftr-gating-invisible-transitions-made-visible
#17
László Csanády
No abstract text is available yet for this article.
March 6, 2017: Journal of General Physiology
https://www.readbyqxmd.com/read/28262570/peripheral-muscle-abnormalities-in-cystic-fibrosis-etiology-clinical-implications-and-response-to-therapeutic-interventions
#18
Mathieu Gruet, Thierry Troosters, Samuel Verges
Peripheral muscle dysfunction is an important systemic consequence of cystic fibrosis (CF) with major clinical implications, such as exercise intolerance and reduced quality of life. Evidence is now accumulating that lack of physical activity is unlikely to be the sole explanation for peripheral muscle dysfunction of patients with CF. Particularly, the demonstration of CFTR expression in both murine and human skeletal muscle suggests the potential implication of intrinsic CF-related factors. By combining data from both human and animal models, this review describes CF peripheral muscle abnormalities and critically reviews the advances in understanding the impact of the underlying mechanisms...
March 2, 2017: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
https://www.readbyqxmd.com/read/28258861/-management-of-infants-whose-diagnosis-is-inconclusive-at-neonatal-screening-for-cystic-fibrosis
#19
I Sermet-Gaudelus, J Brouard, M-P Audrézet, L Couderc Kohen, L Weiss, N Wizla, S Vrielynck, K LLerena, M Le Bourgeois, E Deneuville, N Remus, T Nguyen-Khoa, C Raynal, M Roussey, E Girodon
Neonatal screening for cystic fibrosis (CF) may detect infants with elevated immunoreactive trypsinogen (IRT) levels but with inconclusive sweat tests and/or DNA results. This includes cases associating (1) either the presence of at most one CF-causing mutation and sweat chloride values between 30 and 59mmol/L or (2) two CFTR mutations with at least one of unknown pathogenicity and a sweat chloride below 60mmol/L. This encompasses different clinical situations whose progression cannot be predicted. These cases require redoing the sweat test at 12 months and if possible at 6 and 24 months of life...
March 1, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28258579/water-transport-mediated-by-other-membrane-proteins
#20
Boyue Huang, Hongkai Wang, Baoxue Yang
Water transport through membrane is so intricate that there are still some debates. (Aquaporins) AQPs are entirely accepted to allow water transmembrane movement depending on osmotic gradient. Cotransporters and uniporters , however, are also concerned in water homeotatsis. Urea transporter B (UT-B) has a single-channel water permeability that is similar to AQP1. Cystic fibrosis transmembrane conductance regulator (CFTR ) was initially thought as a water channel but now not believed to transport water directly...
2017: Advances in Experimental Medicine and Biology
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