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https://www.readbyqxmd.com/read/29675454/cftr-and-the-regulation-of-crypt-cell-proliferation
#1
EDITORIAL
Deborah C Rubin
No abstract text is available yet for this article.
March 2018: Cellular and Molecular Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/29675451/cftr-modulates-wnt-%C3%AE-catenin-signaling-and-stem-cell-proliferation-in-murine-intestine
#2
Ashlee M Strubberg, Jinghua Liu, Nancy M Walker, Casey D Stefanski, R John MacLeod, Scott T Magness, Lane L Clarke
Background & Aims: Cystic fibrosis (CF) patients and CF mouse models have increased risk for gastrointestinal tumors. CF mice show augmented intestinal proliferation of unknown etiology and an altered intestinal environment. We examined the role of the cystic fibrosis transmembrane conductance regulator (Cftr) in Wnt/β-catenin signaling, stem cell proliferation, and its functional expression in the active intestinal stem cell (ISC) population. Dysregulation of intracellular pH (pHi ) in CF ISCs was investigated for facilitation of Wnt/β-catenin signaling...
March 2018: Cellular and Molecular Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/29673202/assembly-and-functional-analysis-of-an-s-mar-based-episome-with-the-cystic-fibrosis-transmembrane-conductance-regulator-gene
#3
Davide De Rocco, Barbara Pompili, Stefano Castellani, Elena Morini, Luca Cavinato, Giuseppe Cimino, Maria A Mariggiò, Simone Guarnieri, Massimo Conese, Paola Del Porto, Fiorentina Ascenzioni
Improving the efficacy of gene therapy vectors is still an important goal toward the development of safe and efficient gene therapy treatments. S/MAR (scaffold/matrix attached region)-based vectors are maintained extra-chromosomally in numerous cell types, which is similar to viral-based vectors. Additionally, when established as an episome, they show a very high mitotic stability. In the present study we tested the idea that addition of an S/MAR element to a CFTR (cystic fibrosis transmembrane conductance regulator) expression vector, may allow the establishment of a CFTR episome in bronchial epithelial cells...
April 17, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29669939/cystic-fibrosis-related-diabetes-is-caused-by-islet-loss-and-inflammation
#4
Nathaniel J Hart, Radhika Aramandla, Gregory Poffenberger, Cody Fayolle, Ariel H Thames, Austin Bautista, Aliya F Spigelman, Jenny Aurielle B Babon, Megan E DeNicola, Prasanna K Dadi, William S Bush, Appakalai N Balamurugan, Marcela Brissova, Chunhua Dai, Nripesh Prasad, Rita Bottino, David A Jacobson, Mitchell L Drumm, Sally C Kent, Patrick E MacDonald, Alvin C Powers
Cystic fibrosis-related (CF-related) diabetes (CFRD) is an increasingly common and devastating comorbidity of CF, affecting approximately 35% of adults with CF. However, the underlying causes of CFRD are unclear. Here, we examined cystic fibrosis transmembrane conductance regulator (CFTR) islet expression and whether the CFTR participates in islet endocrine cell function using murine models of β cell CFTR deletion and normal and CF human pancreas and islets. Specific deletion of CFTR from murine β cells did not affect β cell function...
April 19, 2018: JCI Insight
https://www.readbyqxmd.com/read/29669347/combined-pancreatic-islet-lung-liver-transplantation-in-a-pediatric-patient-with-cystic-fibrosis-related-diabetes
#5
Philippe Klee, Mirjam Dirlewanger, Vanessa Lavallard, Valerie A McLin, Anne Mornand, Nadine Pernin, Laetitia-Marie Petit, Paola M Soccal, Barbara E Wildhaber, Urs Zumsteg, Jean-Louis Blouin, Thierry Berney, Valerie M Schwitzgebel
BACKGROUND: Cystic fibrosis-related diabetes (CFRD) is the most frequent extrapulmonary complication of cystic fibrosis (CF). METHODS: We report the first combined pancreatic islet-lung-liver transplantation in a 14-year-old adolescent. CFTR was analyzed by Sanger sequencing. Further genes were analyzed by high-throughput sequencing. RESULTS: The patient was diagnosed with CF at the age of 14 months. Nine years later, after diagnosis of CFRD, the patient's BMI and lung function began to decline...
April 18, 2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29664060/specialized-pro-resolving-mediators-regulate-alveolar-fluid-clearance-during-acute-respiratory-distress-syndrome
#6
REVIEW
Qian Wang, Song-Fan Yan, Yu Hao, Sheng-Wei Jin
Objective: Acute respiratory distress syndrome (ARDS) is an acute and lethal clinical syndrome that is characterized by the injury of alveolar epithelium, which impairs active fluid transport in the lung, and impedes the reabsorption of edema fluid from the alveolar space. This review aimed to discuss the role of pro-resolving mediators on the regulation of alveolar fluid clearance (AFC) in ARDS. Data Sources: Articles published up to September 2017 were selected from the PubMed, with the keywords of "alveolar fluid clearance" or "lung edema" or "acute lung injury" or "acute respiratory distress syndrome", and "specialized pro-resolving mediators" or "lipoxin" or "resolvin" or "protectin" or "maresin" or "alveolar epithelial cells" or "aspirin-triggered lipid mediators" or "carbon monoxide and heme oxygenase" or "annexin A1"...
April 20, 2018: Chinese Medical Journal
https://www.readbyqxmd.com/read/29662080/involvement-of-amp-activated-protein-kinase-ampk-in-regulation-of-cell-membrane-potential-in-a-gastric-cancer-cell-line
#7
Lin Zhu, Xiao-Jian Yu, Sheng Xing, Feng Jin, Wei-Jun Yang
Membrane potential (Vmem ) is a key bioelectric property of non-excitable cells that plays important roles in regulating cell proliferation. However, the regulation of Vmem itself remains largely unexplored. We found that, under nutrient starvation, during which cell division is inhibited, MKN45 gastric cancer cells were in a hyperpolarized state associated with a high intracellular chloride concentration. AMP-activated protein kinase (AMPK) activity increased, and expression of cystic fibrosis transmembrane conductance regulator (CFTR) decreased, in nutrient-starved cells...
April 16, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29661510/cftr-rescue-with-vx-809-and-vx-770-favors-the-repair-of-primary-airway-epithelial-cell-cultures-from-patients-with-class-ii-mutations-in-the-presence-of-pseudomonas-aeruginosa-exoproducts
#8
Damien Adam, Claudia Bilodeau, Laura Sognigbé, Émilie Maillé, Manon Ruffin, Emmanuelle Brochiero
BACKGROUND: Progressive airway damage due to bacterial infections, especially with Pseudomonas aeruginosa remains the first cause of morbidity and mortality in CF patients. Our previous work revealed a repair delay in CF airway epithelia compared to non-CF. This delay was partially prevented after CFTR correction (with VRT-325) in the absence of infection. Our goals were now to evaluate the effect of the Orkambi combination (CFTR VX-809 corrector + VX-770 potentiator) on the repair of CF primary airway epithelia, in infectious conditions...
April 13, 2018: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
https://www.readbyqxmd.com/read/29657614/acute-pancreatitis-in-children
#9
Urszula Grzybowska-Chlebowczyk, Martyna Jasielska, Anna Flak-Wancerz, Sabina Więcek, Katarzyna Gruszczyńska, Wojciech Chlebowczyk, Halina Woś
Introduction: The acute pancreatitis is a rare disease, but it has started to be diagnosed more often in children. Aim: The aim of the study was single-centre, retrospective analysis of the incidence, aetiology, and clinical course of acute pancreatitis in children. Material and methods: We analysed the medical records of patients with acute pancreatitis hospitalised in the Gastroenterology Unit of the Paediatrics Department, Medical University of Silesia from Jan 2004 to Dec 2013...
2018: Przegla̜d Gastroenterologiczny
https://www.readbyqxmd.com/read/29627168/cystic-fibrosis-papers-of-the-year-2017
#10
REVIEW
Iolo Doull
The number of published articles on Cystic Fibrosis (CF) continues to increase year on year. The evidence base for small molecule therapies in CF has continued to expand, with evidence for lumacaftor/ivacaftor in younger patients and longer-term evidence in adults, and pivotal studies on tezacaftor/ivacaftor. There were reports on emerging CFTR mutation agnostic therapies, and new evidence for long standing therapies.
March 15, 2018: Paediatric Respiratory Reviews
https://www.readbyqxmd.com/read/29624923/neutrophil-elastase-correlates-with-increased-sphingolipid-content-in-cystic-fibrosis-sputum
#11
Sophia Karandashova, Apparao Kummarapurugu, Shuo Zheng, Le Kang, Shumei Sun, Bruce K Rubin, Judith A Voynow
INTRODUCTION: Sphingolipids are associated with the regulation of pulmonary inflammation. Although sphingolipids have been investigated in the context of cystic fibrosis (CF), the focus has been on loss of CF transmembrane conductance regulator (CFTR) function in mice, and in CF human lung epithelial cell lines. The sphingolipid content of CF sputum and the potential link between ceramide and airway inflammation in CF remain relatively unexplored. METHODS: Fifteen patients with CF provided two spontaneously expectorated sputum samples, one collected during a hospitalization for an acute pulmonary exacerbation and one from an outpatient visit at a time of clinical stability...
April 6, 2018: Pediatric Pulmonology
https://www.readbyqxmd.com/read/29618585/correctors-of-the-major-cystic-fibrosis-mutant-interact-through-membrane-spanning-domains
#12
Onofrio Laselva, Steven Molinski, Valeria Casavola, Christine E Bear
The most common Cystic Fibrosis causing mutation is deletion of phenylalanine 508 (F508del), a mutation that leads to protein misassembly with defective processing. Small molecule correctors compounds: VX-809 or Corr-4a (C4) partially restore processing of the major mutant. These two prototypical corrector compounds cause an additive effect on F508del-CFTR processing and hence were proposed to act through distinct mechanisms: VX-809 stabilizing the first membrane spanning domain 1 (MSD1) and C4, acting on the second half of the molecule (consisting of MSD2 and/or nucleotide binding domain 2 (NBD2))...
April 4, 2018: Molecular Pharmacology
https://www.readbyqxmd.com/read/29616088/retrospective-screening-of-microarray-data-to-identify-candidate-ifn-inducible-genes-in-a-htlv-1-transformed-model
#13
Alaa Refaat, Mohamed Owis, Sherif Abdelhamed, Ikuo Saiki, Hiroaki Sakurai
HuT-102 cells are considered one of the most representable human T-lymphotropic virus 1 (HTLV-1)-infected cell lines for studying adult T-cell lymphoma (ATL). In our previous studies, genome-wide screening was performed using the GeneChip system with Human Genome Array U133 Plus 2.0 for transforming growth factor-β-activated kinase 1 (TAK1)-, interferon regulatory factor 3 (IRF3)- and IRF4-regulated genes to demonstrate the effects of interferon-inducible genes in HuT-102 cells. Our previous findings demonstrated that TAK1 induced interferon inducible genes via an IRF3-dependent pathway and that IRF4 has a counteracting effect...
April 2018: Oncology Letters
https://www.readbyqxmd.com/read/29613853/non-invasive-prenatal-diagnosis-of-paternally-inherited-disorders-from-maternal-plasma-detection-of-nf1-and-cftr-mutations-using-droplet-digital-pcr
#14
Aurélia Gruber, Mathilde Pacault, Laila Allach El Khattabi, Nicolas Vaucouleur, Lucie Orhant, Thierry Bienvenu, Emmanuelle Girodon, Dominique Vidaud, France Leturcq, Catherine Costa, Franck Letourneur, Olivia Anselem, Vassilis Tsatsaris, François Goffinet, Géraldine Viot, Michel Vidaud, Juliette Nectoux
BACKGROUND: To limit risks of miscarriages associated with invasive procedures of current prenatal diagnosis practice, we aim to develop a personalized medicine-based protocol for non-invasive prenatal diagnosis (NIPD) of monogenic disorders relying on the detection of paternally inherited mutations in maternal blood using droplet digital PCR (ddPCR). METHODS: This study included four couples at risk of transmitting paternal neurofibromatosis type 1 (NF1) mutations and four couples at risk of transmitting compound heterozygous CFTR mutations...
April 25, 2018: Clinical Chemistry and Laboratory Medicine: CCLM
https://www.readbyqxmd.com/read/29611353/intra-individual-biological-variation-in-sweat-chloride-concentrations-in-cf-cftr-dysfunction-and-healthy-pediatric-subjects
#15
Natalia Cirilli, Valeria Raia, Ilaria Rocco, Fabiola De Gregorio, Antonella Tosco, Laura Salvadori, Angela Ornella Sepe, Roberto Buzzetti, Nadia Minicuci, Giuseppe Castaldo
BACKGROUND: The sweat test is one of the main diagnostic tools used in newborn screening programs and as a confirmatory test, in case of suspect of Cystic Fibrosis (CF). Since sweat chloride (Cl) concentration is also considered an appropriate parameter to explore the efficacy of CFTR modulators in clinical trials, it is crucial to evaluate the biological variability of this test in healthy and pathological conditions. The aim of this pilot study was to determine the intra-individual biological variability of sweat Cl, both in healthy individuals and CF patients and to assess its correlation with diet, season, and menstrual cycle...
April 2, 2018: Pediatric Pulmonology
https://www.readbyqxmd.com/read/29607278/molecular-dynamics-simulation-study-on-the-structural-instability-of-the-most-common-cystic-fibrosis-associated-mutant-%C3%AE-f508-cftr
#16
Mitsuhiko Odera, Tadaomi Furuta, Yoshiro Sohma, Minoru Sakurai
Cystic fibrosis transmembrane conductance regulator (CFTR) is an anion channel that belongs to the ATP binding cassette protein superfamily. Deletion of phenylalanine at position 508 (ΔF508) is the most common CF-associated mutation and is present in nearly 90% of CF patients. Currently, atomistic level studies are insufficient for understanding the mechanism by which the deletion of a single amino acid causes greatly reduced folding as well as trafficking and gating defects. To clarify this mechanism, we first constructed an atomic model of the inward-facing ΔF508-CFTR and performed allatom molecular dynamics (MD) simulations of the protein in a membrane environment...
2018: Biophysics and Physicobiology
https://www.readbyqxmd.com/read/29595119/cytochrome-p450-3a4-induction-lumacaftor-versus-ivacaftor-potentially-resulting-in-significantly-reduced-plasma-concentration-of-ivacaftor
#17
Elena K Schneider
Since release of ivacaftor-lumacaftor several red-flags have been raised that highlight the clinical efficacy of this combination strategy may be be limited due to antagonistic drug-drug interactions. </p><p> Method: The effect of ivacaftor, its major metabolites M1 and M6, lumacaftor and the novel cystic fibrosis transmembrane conductance regulator (CFTR) modulator tezacaftor at 10 µg/mL on the enzymatic activity of the major xenobiotic metabolizing enzymes CYP1A2 and CYP3A4 as well as the minor enzymes CYP2B6 and CYP2C9 was assayed...
March 27, 2018: Drug Metabolism Letters
https://www.readbyqxmd.com/read/29589582/spectrum-of-cftr-gene-sequence-variants-in-a-northern-portugal-population
#18
A Grangeia, S Alves, L Gonçalves, I Gregório, A C Santos, H Barros, A Barros, F Carvalho, C Moura
In Portugal, the spectrum of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene variants is not known. The main objective of this work was to determine the type and frequency of CFTR variants in a sample from northern Portugal by the complete analysis of the CFTR coding sequencing performed in 512 Portuguese children. A total of 30 different CFTR sequence variants, already reported as cystic fibrosis (CF) or CFTR related disorders variants, were detected. Ninety-two children (18.0%; 95%CI: 14.7-21...
January 2018: Pulmonology
https://www.readbyqxmd.com/read/29588456/inhalational-anesthetics-induce-neuronal-protein-aggregation-and-affect-er-trafficking
#19
Matthew Coghlan, Elizabeth Richards, Sadiq Shaik, Pablo Rossi, Ramesh Babu Vanama, Saumel Ahmadi, Christelle Petroz, Mark Crawford, Jason T Maynes
Anesthetic agents have been implicated in the causation of neurological and cognitive deficits after surgery, the exacerbation of chronic neurodegenerative disease, and were recently reported to promote the onset of the neurologic respiratory disease Congenital Central Hypoventilation Syndrome (CCHS), related to misfolding of the transcription factor Phox2B. To study how anesthetic agents could affect neuronal function through alterations to protein folding, we created neuronal cell models emulating the graded disease severity of CCHS...
March 27, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29587139/quality-before-quantity-inspecting-cftr
#20
Hongmei Mou
CFTR biosynthesis is highly dynamic. In this issue of Developmental Cell, Okiyoneda et al. (2018) show that RFFL serves as a CFTR conformation scrutinizer at the plasma membrane. It recognizes misfolded CFTR proteins and marks them for degradation. This quality control mechanism may be explored to benefit cystic fibrosis patients.
March 26, 2018: Developmental Cell
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