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https://www.readbyqxmd.com/read/29221674/the-relationship-between-sweat-chloride-levels-and-mortality-in-cystic-fibrosis-varies-by-individual-genotype
#1
Julia C Espel, Hannah L Palac, Ankit Bharat, Joanne Cullina, Michelle Prickett, Marc Sala, Susanna A McColley, Manu Jain
RATIONALE: The association between CFTR genotype, sweat chloride and mortality has been inconsistent, but no previous analyses have examined the association stratified by individual genotypes. OBJECTIVES: To evaluate the genotype-specific association between sweat chloride and mortality. METHODS: The CFF Patient Registry was assessed and included all patients in the registry between 1996 and 2012 with at least one F508del allele. We excluded patients without a documented genotype or plausible sweat chloride level...
December 5, 2017: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
https://www.readbyqxmd.com/read/29216777/the-long-and-winding-road-stem-cells-for-cystic-fibrosis
#2
Massimo Conese, Elisa Beccia, Stefano Castellani, Sante Di Gioia, Carla Colombo, Antonella Angiolillo, Annalucia Carbone
Cystic fibrosis (CF) is a genetic syndrome with a high mortality rate due to severe lung disease. Despite having several drugs targeting specific mutated CFTR proteins already in clinical trials, new therapies, based on stem cells, are also emerging to treat those patients. Areas covered: The authors review the main sources of stem cells, including embryonic stem cells (ESCs), induced-pluripotent stem cells (iPSCs), gestational stem cells, and adult stem cells, such as mesenchymal stem cells (MSCs) in the context of CF...
December 8, 2017: Expert Opinion on Biological Therapy
https://www.readbyqxmd.com/read/29216686/congenital-bilateral-absence-of-the-vas-deferens-as-an-atypical-form-of-cystic-fibrosis-reproductive-implications-and-genetic-counseling
#3
REVIEW
D A S de Souza, F R Faucz, L Pereira-Ferrari, V S Sotomaior, S Raskin
Congenital bilateral absence of the vas deferens (CBAVD) is found in 1% to 2% of males with infertility and is present in 6% of obstructive azoospermia cases. Nearly 95% of men with cystic fibrosis (CF, an autosomal recessive disorder) have CBAVD. There are genetic links between CBAVD and CF. Some mutations in the gene encoding cystic fibrosis transmembrane conductance regulator (CFTR) can lead to CBAVD as a monosymptomatic form of CF. With the use of assisted reproductive techniques (ART), especially testicular or epididymal sperm aspiration, intracytoplasmic sperm injection, and in vitro fertilization, it is possible that men with CBAVD can produce offspring...
December 7, 2017: Andrology
https://www.readbyqxmd.com/read/29215541/pancreatic-insufficiency-in-cystic-fibrosis-influence-of-inflammatory-response-genes
#4
Fernando Augusto Lima Marson, Carmen Sílvia Bertuzzo, Tânia Kawasaki de Araujo, Taís Daiene Russo Hortencio, Antônio Fernando Ribeiro, José Dirceu Ribeiro
OBJECTIVE: Pancreatic insufficiency (PI) in cystic fibrosis (CF) patients is a crucial clinical marker for severity and disease progression. In our study, 125 modifier genes and their SNPs were associated between CF patients with PI or pancreatic sufficiency. METHODS: We prospectively evaluated 214 CF patients admitted at 1 hospital for a 2-year period. The PI status was associated with clinical variables and SNPs related with inflammatory response considering CFTR mutations...
December 5, 2017: Pancreas
https://www.readbyqxmd.com/read/29211365/oral-cavity-health-among-cystic-fibrosis-patients-literature-overview
#5
REVIEW
Katarzyna Herman, Małgorzata Kowalczyk-Zając, Tomasz Pytrus
Cystic fibrosis is a genetic disorder in which the mutation of the Cystis Fibrosis Transmembrane Conductance Regulator (CFTR) gene that codes the protein forming a chloride channel of epithelial cells results in its distorted functioning. The manifestations of the disorder are mainly observed in the respiratory and digestive system. Accumulation of sticky and thick mucus is the dominant clinical symptom; it leads to chronic infections and gradual tissue destruction. Although cystic fibrosis remains incurable, it is currently feasible to extend patients' life expectancy thanks to modern therapy possibilities...
October 2017: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
https://www.readbyqxmd.com/read/29208182/complexity-of-phenotypes-induced-by-p-asn1303lys-cftr-correlates-with-difficulty-to-rescue-and-activate-this-protein
#6
Raëd Farhat, Ayman El-Seedy, Caroline Norez, Hugo Talbot, Marie-Claude Pasquet, Catherine Adolphe, Alain Kitzis, Véronique Ladevèze
Cystic Fibrosis is the most common recessive autosomal rare disease found in Caucasian. It is caused by mutations on the Cystic Fibrosis Transmembrane Conductance Regulator gene (CFTR) that encodes for a protein located on the apical membrane of epithelial cells. c.3909C>G (p.Asn1303Lys) is one of the most common worldwide mutations located in nucleotide binding domain 2. The effect of the p.Asn1303Lys mutation on misprocessing was studied by immunofluorescence and western blotting analysis in presence and absence of treatment...
November 30, 2017: Cellular and Molecular Biology
https://www.readbyqxmd.com/read/29206667/total-pancreatectomy-with-intraportal-islet-autotransplantation-as-a-treatment-of-chronic-pancreatitis-in-patients-with-cftr-mutations
#7
Kristin P Colling, Melena D Bellin, Sarah J Schwarzenberg, Louise Berry, Joshua J Wilhelm, Ty Dunn, Timothy L Pruett, David E R Sutherland, Srinath Chinnakotla, Jordan M Dunitz, Greg J Beilman
OBJECTIVES: Chronic pancreatitis (CP) is an infrequent but debilitating complication associated with CFTR mutations. Total pancreatectomy with islet autotransplantation (TPIAT) is a treatment option for CP that provides pain relief and preserves β-cell mass, thereby minimizing the complication of diabetes mellitus. We compared outcomes after TPIAT for CP associated with CFTR mutations to CP without CTFR mutations. METHODS: All TPIATs performed between 2002 and 2014 were retrospectively reviewed: identifying 20 CFTR homozygotes (cystic fibrosis [CF] patients), 19 CFTR heterozygotes, and 20 age-/sex-matched controls without CFTR mutations...
December 5, 2017: Pancreas
https://www.readbyqxmd.com/read/29204121/abnormal-cftr-affects-glucagon-production-by-islet-%C3%AE-cells-in-cystic-fibrosis-and-polycystic-ovarian-syndrome
#8
Wen Qing Huang, Jing Hui Guo, Chun Yuan, Yu Gui Cui, Fei Yang Diao, Mei Kuen Yu, Jia Yin Liu, Ye Chun Ruan, Hsiao Chang Chan
Glucagon, produced by islet α cells, functions to increase blood glucose. Abnormal glucose levels are often seen in cystic fibrosis (CF), a systematic disease caused by mutations of the CF transmembrane conductance regulator (CFTR), and in polycystic ovarian syndrome (PCOS), an endocrine disorder featured with hyperandrogenism affecting 5-10% women of reproductive age. Here, we explored the role of CFTR in glucagon production in α cells and its possible contribution to glucagon disturbance in CF and PCOS...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/29202459/nasospheroids-permit-measurements-of-cftr-dependent-fluid-transport
#9
Jennifer S Guimbellot, Justin M Leach, Imron G Chaudhry, Nancy L Quinney, Susan E Boyles, Michael Chua, Inmaculada Aban, Ilona Jaspers, Martina Gentzsch
Expansion of novel therapeutics to all patients with cystic fibrosis (CF) requires personalized CFTR modulator therapy. We have developed nasospheroids, a primary cell culture-based model derived from individual CF patients and healthy subjects by a minimally invasive nasal biopsy. Confocal microscopy was utilized to measure CFTR activity by analyzing changes in cross-sectional area over time that resulted from CFTR-mediated ion and fluid movement. Both the rate of change over time and AUC were calculated. Non-CF nasospheroids with active CFTR-mediated ion and fluid movement showed a reduction in cross-sectional area, whereas no changes were observed in CF spheroids...
November 16, 2017: JCI Insight
https://www.readbyqxmd.com/read/29198838/another-step-in-the-journey-from-cftr-mutation-to-sweat-chloride-concentration-to-survival
#10
EDITORIAL
D R VanDevanter, N Mayer-Hamblett
No abstract text is available yet for this article.
November 30, 2017: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
https://www.readbyqxmd.com/read/29198829/generation-of-induced-progenitor-like-cells-from-mature-epithelial-cells-using-interrupted-reprogramming
#11
Li Guo, Golnaz Karoubi, Pascal Duchesneau, Maria V Shutova, Hoon-Ki Sung, Peter Tonge, Christine Bear, Ian Rogers, Andras Nagy, Thomas K Waddell
A suitable source of progenitor cells is required to attenuate disease or affect cure. We present an "interrupted reprogramming" strategy to generate "induced progenitor-like (iPL) cells" using carefully timed expression of induced pluripotent stem cell reprogramming factors (Oct4, Sox2, Klf4, and c-Myc; OSKM) from non-proliferative Club cells. Interrupted reprogramming allowed controlled expansion yet preservation of lineage commitment. Under clonogenic conditions, iPL cells expanded and functioned as a bronchiolar progenitor-like population to generate mature Club cells, mucin-producing goblet cells, and cystic fibrosis transmembrane conductance regulator (CFTR)-expressing ciliated epithelium...
November 27, 2017: Stem Cell Reports
https://www.readbyqxmd.com/read/29193105/correlations-between-cystic-fibrosis-genotype-and-sinus-disease-severity-in-chronic-rhinosinusitis
#12
Waleed M Abuzeid, Changeun Song, Judd H Fastenberg, Christina H Fang, Noel Ayoub, Elina Jerschow, Paul K Mohabir, Peter H Hwang
OBJECTIVE: Cystic fibrosis (CF) patients commonly develop chronic rhinosinusitis (CRS). The impact of the most common cystic fibrosis transmembrane conductance regulator (CFTR) mutation, F508del, on the severity of sinonasal disease remains inconclusive. The objective of this study is to evaluate the impact of CFTR genotype functional classification on sinonasal disease severity in patients with CRS. METHODS: Retrospective chart review of patients with CF who underwent endoscopic sinus surgery for chronic rhinosinusitis from 1998 to 2015...
November 29, 2017: Laryngoscope
https://www.readbyqxmd.com/read/29190650/reduced-bone-length-growth-plate-thickness-bone-content-and-igf-i-as-a-model-for-poor-growth-in-the-cftr-deficient-rat
#13
Michael S Stalvey, Viktoria Havasi, Katherine L Tuggle, Dezhi Wang, Susan Birket, Steve M Rowe, Eric J Sorscher
BACKGROUND: Reduced growth and osteopenia are common in individuals with cystic fibrosis (CF). Additionally, improved weight and height are associated with better lung function and overall health in the disease. Mechanisms for this reduction in growth are not understood. We utilized a new CFTR knockout rat to evaluate growth in young CF animals, via femur length, microarchitecture of bone and growth plate, as well as serum IGF-I concentrations. METHODS: Femur length was measured in wild-type (WT) and SD-CFTRtm1sage (Cftr-/-) rats, as a surrogate marker for growth...
2017: PloS One
https://www.readbyqxmd.com/read/29179179/naringenin-regulates-cftr-activation-and-expression-in-airway-epithelial-cells
#14
Rui Shi, Zi-Ting Xiao, Yi-Jun Zheng, Yi-Lin Zhang, Jia-Wen Xu, Jie-Hong Huang, Wen-Liang Zhou, Pei-Bo Li, Wei-Wei Su
BACKGROUND/AIMS: Sputum symptoms are commonly seen in the elderly. This study aimed to identify an efficacious expectorant treatment stratagem through evaluating the secretion-promoting activation and cystic fibrosis transmembrane conductance regulator (CFTR) expression of the bioactive herbal monomer naringenin. METHODS: Vectorial Cl- transport was determined by measuring short-circuit current (ISC) in rat airway epithelium. cAMP content was measured by ELISA in primary cultured epithelial cells and Calu-3 cells...
November 27, 2017: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/29178639/spectrum-of-cftr-gene-mutations-in-ecuadorian-cystic-fibrosis-patients-the-second-report-of-the-p-h609r-mutation
#15
Sofía C Ortiz, Santiago J Aguirre, Sofía Flores, Claudio Maldonado, Juan Mejía, Lilian Salinas
BACKGROUND: High heterogeneity in the CFTR gene mutations disturbs the molecular diagnosis of cystic fibrosis (CF). In order to improve the diagnosis of CF in our country, the present study aims to define a panel of common CFTR gene mutations by sequencing 27 exons of the gene in Ecuadorian Cystic Fibrosis patients. METHODS: Forty-eight Ecuadorian individuals with suspected/confirmed CF diagnosis were included. Twenty-seven exons of CFTR gene were sequenced to find sequence variations...
November 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29177135/quorum-sensing-down-regulation-counteracts-the-negative-impact-of-pseudomonas-aeruginosa-on-cftr-channel-expression-function-and-rescue-in-human-airway-epithelial-cells
#16
Émilie Maillé, Manon Ruffin, Damien Adam, Hatem Messaoud, Shantelle L Lafayette, Geoffrey McKay, Dao Nguyen, Emmanuelle Brochiero
The function of cystic fibrosis transmembrane conductance regulator (CFTR) channels is crucial in human airways. However unfortunately, chronic Pseudomonas aeruginosa infection has been shown to impair CFTR proteins in non-CF airway epithelial cells (AEC) and to alter the efficiency of new treatments with CFTR modulators designed to correct the basic CFTR default in AEC from cystic fibrosis (CF) patients carrying the F508del mutation. Our aim was first to compare the effect of laboratory strains, clinical isolates, engineered and natural mutants to determine the role of the LasR quorum sensing system in CFTR impairment, and second, to test the efficiency of a quorum sensing inhibitor to counteract the deleterious impact of P...
2017: Frontiers in Cellular and Infection Microbiology
https://www.readbyqxmd.com/read/29174009/guidelines-for-the-clinical-management-and-follow-up-of-infants-with-inconclusive-cystic-fibrosis-diagnosis-through-newborn-screening
#17
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) can detect infants with elevated immunoreactive trypsinogen (IRT) levels and inconclusive sweat tests and/or CFTR DNA results. These cases of uncertain diagnosis are defined by (1) either the presence of at most one CF-associated cystic fibrosis transmembrane conductance regulator (CFTR) mutation with sweat chloride values between 30 and 59mmol/L or (2) two CFTR mutations with at least one of unknown pathogenic potential and a sweat chloride concentration below 60mmol/L...
November 21, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/29173301/targeted-gene-next-generation-sequencing-in-chinese-children-with-chronic-pancreatitis-and-acute-recurrent-pancreatitis
#18
Yuan Xiao, Wentao Yuan, Bo Yu, Yan Guo, Xu Xu, Xinqiong Wang, Yi Yu, Yi Yu, Biao Gong, Chundi Xu
OBJECTIVE: To identify causal mutations in certain genes in children with acute recurrent pancreatitis (ARP) or chronic pancreatitis (CP). STUDY DESIGN: After patients were enrolled (CP, 55; ARP, 14) and their clinical characteristics were investigated, we performed next-generation sequencing to detect nucleotide variations among the following 10 genes: cationic trypsinogen protease serine 1 (PRSS1), serine protease inhibitor, Kazal type 1 (SPINK1), cystic fibrosis transmembrane conductance regulator gene (CFTR), chymotrypsin C (CTRC), calcium-sensing receptor (CASR), cathepsin B (CTSB), keratin 8 (KRT8), CLAUDIN 2 (CLDN2), carboxypeptidase A1 (CPA1), and ATPase type 8B member 1 (ATP8B1)...
December 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/29172645/a-homogeneous-cell-based-halide-sensitive-yellow-fluorescence-protein-assay-to-identify-modulators-of-the-cystic-fibrosis-transmembrane-conductance-regulator-ion-channel
#19
Emery Smith, Kenneth A Giuliano, Justin Shumate, Pierre Baillargeon, Brigid McEwan, Matthew D Cullen, John P Miller, Lawrence Drew, Louis Scampavia, Timothy P Spicer
Cystic fibrosis (CF), an inherited genetic disease, is caused by mutation of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene, which encodes an ion channel involved in hydration maintenance by anion homeostasis. Ninety percent of CF patients possess one or more copies of the F508del CFTR mutation. This mutation disrupts trafficking of the protein to the plasma membrane and diminishes function of mature CFTR. Identifying small molecule modulators of mutant CFTR activity or biosynthesis may yield new tools for discovering novel CF treatments...
November 27, 2017: Assay and Drug Development Technologies
https://www.readbyqxmd.com/read/29169695/immunohistochemical-analysis-of-the-distribution-of-molecules-involved-in-ionic-and-ph-regulation-in-the-lancelet-branchiostoma-floridae-hubbs-1922
#20
Ivan Cuoghi, Clara Lazzaretti, Mauro Mandrioli, Lucrezia Mola, Aurora Pederzoli
The aim of present work is to analyse the distribution of carbonic anhydrase II (CAII), cystic fibrosis transmembrane regulator (CFTR), vacuolar-type H(+)-ATPase (V-H(+)-ATPase), Na(+)/K(+) ATPase, Na(+)/H(+) exchanger (NHE) and SLC26A6 (solute carrier family 26, member 6), also known as pendrin protein, in the lancelet Branchiostoma floridae in order to go in depth in the evolution of osmoregulation and pH regulation in Chordates. In view of their phylogenetic position, lancelets may indeed provide a critical point of reference for studies on osmoregulation evolution in Chordates...
November 20, 2017: Acta Histochemica
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