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https://www.readbyqxmd.com/read/29451946/first-experience-in-switzerland-in-phe508del-homozygous-cystic-fibrosis-patients-with-end-stage-pulmonary-disease-enrolled-in-a-lumacaftor-ivacaftor-therapy-trial-preliminary-results
#1
Christian Murer, Lars Christian Huber, Thomas Kurowski, Astrid Hirt, Cécile A Robinson, Urs Bürgi, Christian Benden
AIMS OF THE STUDY: Cystic fibrosis is the most common genetic disorder in Caucasians. The combination of the cystic fibrosis transmembrane conductance regulator (CFTR) corrector lumacaftor / potentiator ivacaftor (LUM/IVA) has been shown to increase forced expiratory volume in 1 second (FEV1) moderately, but predominantly reduce acute exacerbation rate (AER) in Phe508del homozygous cystic fibrosis patients; however, patients with FEV1 <40% predicted were excluded from studies. We used LUM/IVA on a "compassionate use" basis in cystic fibrosis patients with end-stage pulmonary disease...
February 16, 2018: Swiss Medical Weekly
https://www.readbyqxmd.com/read/29449653/cftr-mutation-enhances-dishevelled-degradation-and-results-in-impairment-of-wnt-dependent-hematopoiesis
#2
Huaqin Sun, Yan Wang, Jieting Zhang, Yan Chen, Yanyan Liu, Ziyuan Lin, Mingfeng Liu, Kai Sheng, Huijuan Liao, Kam Sze Tsang, Xiaohu Zhang, Xiaohua Jiang, Wenming Xu, Meng Mao, Hsiao Chang Chan
Mutations of cystic fibrosis transmembrane conductance regulator (CFTR) cause cystic fibrosis (CF) with a multitude of clinical manifestations. Some CF patients develop clinically significant anemia, suggesting that CFTR may regulate hematopoiesis. Here, we report that cftr mutant zebrafish model exhibits primitive and definitive hematopoietic defects with impaired Wnt signaling. Cftr is found to interact, via its PDZ-binding domain (PDZBD), with Dishevelled (Dvl), a key component of Wnt signaling required for hematopoietic progenitor specification, thus protecting Dvl from Dapper1 (Dpr1)-induced lysosomal degradation...
February 15, 2018: Cell Death & Disease
https://www.readbyqxmd.com/read/29444099/airway-ciliary-dysfunction-and-respiratory-symptoms-in-patients-with-transposition-of-the-great-arteries
#3
Maliha Zahid, Abha Bais, Xin Tian, William Devine, Dong Ming Lee, Cyrus Yau, Daniel Sonnenberg, Lee Beerman, Omar Khalifa, Cecilia W Lo
BACKGROUND: Our prior work on congenital heart disease (CHD) with heterotaxy, a birth defect involving randomized left-right patterning, has shown an association of a high prevalence of airway ciliary dysfunction (CD; 18/43 or 42%) with increased respiratory symptoms. Furthermore, heterotaxy patients with ciliary dysfunction were shown to have more postsurgical pulmonary morbidities. These findings are likely a reflection of the common role of motile cilia in both airway clearance and left-right patterning...
2018: PloS One
https://www.readbyqxmd.com/read/29441426/conformational-change-of-the-extracellular-parts-of-the-cftr-protein-during-channel-gating
#4
Alexander Negoda, Elizabeth A Cowley, Yassine El Hiani, Paul Linsdell
Cystic fibrosis can be treated by potentiators, drugs that interact directly with the cystic fibrosis transmembrane conductance regulator (CFTR) Cl-channel to increase its open probability. These substances likely target key conformational changes occurring during channel opening and closing, however, the molecular bases of these conformational changes, and their susceptibility to manipulation are poorly understood. We have used patch clamp recording to identify changes in the three-dimensional organization of the extracellularly accessible parts of the CFTR protein during channel opening and closing...
February 14, 2018: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/29438119/liver-disease-in-patients-with-cystic-fibrosis
#5
Natasha Kamal, Pallavi Surana, Christopher Koh
PURPOSE OF REVIEW: The aim of this study was to provide an overview of the current understanding of the pathophysiology, diagnosis and management of cystic fibrosis-liver disease (CFLD). RECENT FINDINGS: CFLD has a variety of manifestations. Previously, it was thought that patients progressed from mild cholestatic disease to cirrhosis to decompensated cirrhosis with portal hypertension. Newer evidence suggests that some patients may develop cirrhosis while others develop noncirrhotic portal hypertension...
February 12, 2018: Current Opinion in Gastroenterology
https://www.readbyqxmd.com/read/29437784/role-of-iodide-metabolism-in-physiology-and-cancer
#6
Antonio De la Vieja, Pilar Santisteban
Iodide (I-) metabolism is crucial for the synthesis of thyroid hormones (THs) in the thyroid and the subsequent action of these hormones in the organism. I- is principally transported by the sodium iodide symporter (NIS) and by the anion exchanger PENDRIN, and recent studies have demonstrated the direct participation of new transporters including anoctamin 1 (ANO1), cystic fibrosis transmembrane conductance regulator (CFTR) and sodium multivitamin transporter (SMVT). Several of these transporters have been found expressed in various tissues, implicating them in I- recycling...
February 1, 2018: Endocrine-related Cancer
https://www.readbyqxmd.com/read/29434669/copy-number-variation-and-regions-of-homozygosity-analysis-in-patients-with-m%C3%A3-llerian-aplasia
#7
Durkadin Demir Eksi, Yiping Shen, Munire Erman, Lynn P Chorich, Megan E Sullivan, Meric Bilekdemir, Elanur Yılmaz, Guven Luleci, Hyung-Goo Kim, Ozgul M Alper, Lawrence C Layman
Background: Little is known about the genetic contribution to Müllerian aplasia, better known to patients as Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Mutations in two genes (WNT4 and HNF1B) account for a small number of patients, but heterozygous copy number variants (CNVs) have been described. However, the significance of these CNVs in the pathogenesis of MRKH is unknown, but suggests possible autosomal dominant inheritance. We are not aware of CNV studies in consanguineous patients, which could pinpoint genes important in autosomal recessive MRKH...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29427548/multicenter-validation-study-for-the-certification-of-a-cftr-gene-scanning-method-using-next-generation-sequencing-technology
#8
Anne Bergougnoux, Valeria D'Argenio, Stefanie Sollfrank, Fanny Verneau, Antonella Telese, Irene Postiglione, Karl J Lackner, Mireille Claustres, Giuseppe Castaldo, Heidi Rossman, Francesco Salvatore, Caroline Raynal
BACKGROUND: Many European laboratories offer molecular genetic analysis of the CFTR gene using a wide range of methods to identify mutations causative of cystic fibrosis (CF) and CFTR-related disorders (CFTR-RDs). Next-generation sequencing (NGS) strategies are widely used in diagnostic practice, and CE marking is now required for most in vitro diagnostic (IVD) tests in Europe. The aim of this multicenter study, which involved three European laboratories specialized in CF molecular analysis, was to evaluate the performance of Multiplicom's CFTR MASTR Dx kit to obtain CE-IVD certification...
February 10, 2018: Clinical Chemistry and Laboratory Medicine: CCLM
https://www.readbyqxmd.com/read/29425673/structural-stability-of-purified-human-cftr-is-systematically-improved-by-mutations-in-nucleotide-binding-domain-1
#9
Zhengrong Yang, Ellen Hildebrandt, Fan Jiang, Andrei A Aleksandrov, Netaly Khazanov, Qingxian Zhou, Jianli An, Andrew T Mezzell, Bala M Xavier, Haitao Ding, John R Riordan, Hanoch Senderowitz, John C Kappes, Christie G Brouillette, Ina L Urbatsch
The Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) is an ABC transporter containing two transmembrane domains forming a chloride ion channel, and two nucleotide binding domains (NBD1 and NBD2). CFTR has presented a formidable challenge to obtain monodisperse, biophysically stable protein. Here we report a comprehensive study comparing effects of single and multiple NBD1 mutations on stability of both the NBD1 domain alone and on purified full length human CFTR. Single mutations S492P, A534P, I539T acted additively, and when combined with M470V, S495P, and R555K cumulatively yielded an NBD1 with highly improved structural stability...
February 6, 2018: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29423078/molecular-mechanisms-of-calcium-signaling-in-the-modulation-of-small-intestinal-ion-transports-and-bicarbonate-secretion
#10
Xin Yang, Guorong Wen, Biguang Tuo, Fenglian Zhang, Hanxing Wan, Jialin He, Shiming Yang, Hui Dong
Background and Purpose: Although Ca2+ signaling may stimulate small intestinal ion secretion, little is known about its critical role and the molecular mechanisms of Ca2+-mediated biological action. Key Results: Activation of muscarinic receptors by carbachol(CCh) stimulated mouse duodenal Isc, which was significantly inhibited in Ca2+-free serosal solution and by several selective store-operated Ca2+ channels(SOC) blockers added to the serosal side of duodenal tissues...
January 9, 2018: Oncotarget
https://www.readbyqxmd.com/read/29422673/small-molecule-anionophores-promote-transmembrane-anion-permeation-matching-cftr-activity
#11
Elsa Hernando, Valeria Capurro, Claudia Cossu, Michele Fiore, María García-Valverde, Vanessa Soto-Cerrato, Ricardo Pérez-Tomás, Oscar Moran, Olga Zegarra-Moran, Roberto Quesada
Anion selective ionophores, anionophores, are small molecules capable of facilitating the transmembrane transport of anions. Inspired in the structure of natural product prodigiosin, four novel anionophores 1a-d, including a 1,2,3-triazole group, were prepared. These compounds proved highly efficient anion exchangers in model phospholipid liposomes. The changes in the hydrogen bond cleft modified the anion transport selectivity exhibited by these compounds compared to prodigiosin and suppressed the characteristic high toxicity of the natural product...
February 8, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29415998/homocysteine-activates-autophagy-by-inhibition-of-cftr-expression-via-interaction-between-dna-methylation-and-h3k27me3-in-mouse-liver
#12
Anning Yang, Yun Jiao, Songhao Yang, Mei Deng, Xiaoling Yang, Caiyan Mao, Yue Sun, Ning Ding, Nan Li, Minghao Zhang, Shaoju Jin, Huiping Zhang, Yideng Jiang
Elevated homocysteine (Hcy) levels have been reported to be involved in liver injury, and autophagy plays an important role in normal hepatic physiology and pathophysiology, but the mechanism underlying Hcy regulated autophagy is currently unknown. In this study, CBS+/- mice were fed with regular diet for 12 weeks to establish a hyperhomocysteinemia (HHcy) model and HL-7702 cells were treated with Hcy, we found that Hcy increases autophagy and aggravates liver injury by downregulation of cystic fibrosis transmembrane conductance regulator (CFTR) expression in vivo and in vitro...
February 7, 2018: Cell Death & Disease
https://www.readbyqxmd.com/read/29415993/evaluation-of-autophagy-inducers-in-epithelial-cells-carrying-the-%C3%AE-f508-mutation-of-the-cystic-fibrosis-transmembrane-conductance-regulator-cftr
#13
Shaoyi Zhang, Gautier Stoll, José Manuel Bravo San Pedro, Valentina Sica, Allan Sauvat, Florine Obrist, Oliver Kepp, Yousheng Li, Luigi Maiuri, Naoufal Zamzami, Guido Kroemer
Cystic Fibrosis (CF) due to the ΔF508 mutation of cystic fibrosis transmembrane conductance regulator (CFTR) can be treated with a combination of cysteamine and Epigallocatechin gallate (EGCG). Since ECGC is not a clinically approved drug, we attempted to identify other compounds that might favourably interact with cysteamine to induce autophagy and thus rescuing the function of ΔF508 CFTR as a chloride channel in the plasma membrane. For this, we screened a compound library composed by chemically diverse autophagy inducers for their ability to enhance autophagic flux in the presence of cysteamine...
February 7, 2018: Cell Death & Disease
https://www.readbyqxmd.com/read/29415893/thymosin-%C3%AE-1-does-not-correct-f508del-cftr-in-cystic-fibrosis-airway-epithelia
#14
Valeria Tomati, Emanuela Caci, Loretta Ferrera, Emanuela Pesce, Elvira Sondo, Deborah M Cholon, Nancy L Quinney, Susan E Boyles, Andrea Armirotti, Roberto Ravazzolo, Luis Jv Galietta, Martina Gentzsch, Nicoletta Pedemonte
In cystic fibrosis (CF), deletion of phenylalanine 508 (F508del) in the cystic fibrosis transmembrane conductance regulator (CFTR) anion channel causes misfolding and premature degradation. Considering the numerous effects of the F508del mutation on the assembly and processing of CFTR protein, combination therapy with several pharmacological correctors is likely to be required to treat CF patients. Recently, it has been reported that thymosin α-1 (Tα-1) has multiple beneficial effects that could lead to a single-molecule-based therapy for CF patients with F508del...
February 8, 2018: JCI Insight
https://www.readbyqxmd.com/read/29412515/l-methionine-anti-biofilm-activity-against-pseudomonas-aeruginosa-is-enhanced-by-the-cystic-fibrosis-transmembrane-conductance-regulator-potentiator-ivacaftor
#15
Do-Yeon Cho, Dong-Jin Lim, Calvin Mackey, Christopher G Weeks, Jaime A Peña Garcia, Daniel Skinner, Jessica W Grayson, Harrison S Hill, David K Alexander, Shaoyan Zhang, Bradford A Woodworth
BACKGROUND: Biofilms may contribute to refractory chronic rhinosinusitis (CRS), as they lead to antibiotic resistance and failure of effective clinical treatment. l-Methionine is an amino acid with reported biofilm-inhibiting properties. Ivacaftor is a cystic fibrosis transmembrane conductance regulator (CFTR) potentiator with mild antimicrobial activity via inhibition of bacterial DNA gyrase and topoisomerase IV. The objective of this study was to evaluate whether co-treatment with ivacaftor and l-methionine can reduce the formation of Pseudomonas aeruginosa biofilms...
February 7, 2018: International Forum of Allergy & Rhinology
https://www.readbyqxmd.com/read/29411041/cystic-fibrosis-transmembrane-conductance-regulator-emerging-regulator-of-cancer
#16
REVIEW
Jieting Zhang, Yan Wang, Xiaohua Jiang, Hsiao Chang Chan
Mutations of cystic fibrosis transmembrane conductance regulator (CFTR) cause cystic fibrosis, the most common life-limiting recessive genetic disease among Caucasians. CFTR mutations have also been linked to increased risk of various cancers but remained controversial for a long time. Recent studies have begun to reveal that CFTR is not merely an ion channel but also an important regulator of cancer development and progression with multiple signaling pathways identified. In this review, we will first present clinical findings showing the correlation of genetic mutations or aberrant expression of CFTR with cancer incidence in multiple cancers...
February 6, 2018: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/29406823/biomarkers-their-role-in-cftr-modulator-therapies-from-early-development-to-the-clinic
#17
Scott C Bell, Michelle E Wood
No abstract text is available yet for this article.
February 6, 2018: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/29402832/the-cftr-associated-ligand-arrests-the-trafficking-of-the-mutant-%C3%AE-f508-cftr-channel-in-the-er-contributing-to-cystic-fibrosis
#18
Emily Bergbower, Clement Boinot, Inna Sabirzhanova, William Guggino, Liudmila Cebotaru
BACKGROUND/AIMS: The CFTR-Associated Ligand (CAL), a PDZ domain containing protein with two coiled-coil domains, reduces cell surface WT CFTR through degradation in the lysosome by a well-characterized mechanism. However, CAL's regulatory effect on ΔF508 CFTR has remained almost entirely uninvestigated. METHODS: In this study, we describe a previously unknown pathway for CAL by which it regulates the membrane expression of ΔF508 CFTR through arrest of ΔF508 CFTR trafficking in the endoplasmic reticulum (ER) using a combination of cell biology, biochemistry and electrophysiology...
January 29, 2018: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/29393851/gq-activity-and-%C3%AE-arrestin-1-scaffolding-mediated-adgrg2-cftr-coupling-are-required-for-male-fertility
#19
Dao-Lai Zhang, Yu-Jing Sun, Ming-Liang Ma, Yi-Jing Wang, Hui Lin, Rui-Rui Li, Zong-Lai Liang, Yuan Gao, Zhao Yang, Dong-Fang He, Amy Lin, Hui Mo, Yu-Jing Lu, Meng-Jing Li, Wei Kong, Ka Young Chung, Fan Yi, Jian-Yuan Li, Ying-Ying Qin, Jingxin Li, Alex R B Thomsen, Alem W Kahsai, Zi-Jiang Chen, Zhi-Gang Xu, Mingyao Liu, Dali Li, Xiao Yu, Jin-Peng Sun
Luminal fluid reabsorption plays a fundamental role in male fertility. We demonstrated that the ubiquitous GPCR signaling proteins Gq and β-arrestin-1 are essential for fluid reabsorption because they mediate coupling between an orphan receptor ADGRG2 (GPR64) and the ion channel CFTR. A reduction in protein level or deficiency of ADGRG2, Gq or β-arrestin-1 in a mouse model led to an imbalance in pH homeostasis in the efferent ductules due to decreased constitutive CFTR currents. Efferent ductule dysfunction was rescued by the specific activation of another GPCR, AGTR2...
February 2, 2018: ELife
https://www.readbyqxmd.com/read/29388813/the-relationship-between-cftr-genotype-and-exercise-tolerance-in-cystic-fibrosis
#20
David Orenstein
No abstract text is available yet for this article.
February 2018: Annals of the American Thoracic Society
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