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https://www.readbyqxmd.com/read/28805948/pathogenic-role-of-adgrg2-in-cbavd-patients-replicated-in-chinese-population
#1
B Yang, J Wang, W Zhang, H Pan, T Li, B Liu, H Li, B Wang
Congenital bilateral absence of the vas deferens (CBAVD) is an important cause of obstructive azoospermia and male infertility worldwide. Cystic fibrosis transmembrane conductance regulator (CFTR) mutations are the main pathogenic cause, although a proportion of cases are still unexplained. Recently, adhesion G protein-coupled receptor G2 (ADGRG2) gene, a novel pathogenic gene for CBAVD was identified. We did a single population replication study in Chinese CBAVD patients to replicate its role in CBAVD developing...
August 14, 2017: Andrology
https://www.readbyqxmd.com/read/28805732/the-mechanistic-links-between-insulin-and-cystic-fibrosis-transmembrane-conductance-regulator-cftr-cl-channel
#2
REVIEW
Yoshinori Marunaka
The cystic fibrosis transmembrane conductance regulator (CFTR) Cl(-) channel belongs to the ATP-binding cassette (ABC) transporter superfamily and regulates Cl(-) secretion in epithelial cells for water secretion. Loss-of-function mutations to the CFTR gene cause dehydrated mucus on the apical side of epithelial cells and increase the susceptibility of bacterial infection, especially in the airway and pulmonary tissues. Therefore, research on the molecular properties of CFTR, such as its gating mechanism and subcellular trafficking, have been intensively pursued...
August 14, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28802235/steviol-stabilizes-polycystin-1-expression-and-promotes-lysosomal-degradation-of-cftr-and-%C3%AE-catenin-proteins-in-renal-epithelial-cells
#3
Chaowalit Yuajit, Chatchai Muanprasat, Sureeporn Homvisasevongsa, Varanuj Chatsudthipong
Malfunction of polycystin 1 (PC1) is linked to abnormally high epithelial cell proliferation and fluid secretion, eventually leading to renal cyst development and declined renal function as found in autosomal dominant polycystic kidney disease (ADPKD). Currently, there is no effective therapy for ADPKD. Recent studies report PC1 regulates CFTR chloride channels and β-catenin levels in normal renal epithelial cells. Concurrently, our previous study found steviol retarded renal cyst enlargement in an in vitro and in an in vivo models by reducing CFTR expression and activity...
August 9, 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/28801929/validation-and-application-of-a-novel-integrated-genetic-screening-method-to-a-cohort-of-1-112-men-with-idiopathic-azoospermia-or-severe-oligozoospermia
#4
Manon S Oud, Liliana Ramos, Moira K O'Bryan, Robert I McLachlan, Özlem Okutman, Stephane Viville, Petra F de Vries, Dominique F C M Smeets, Dorien Lugtenberg, Jayne Y Hehir-Kwa, Christian Gilissen, Maartje van de Vorst, Lisenka E L M Vissers, Alexander Hoischen, Aukje M Meijerink, Kathrin Fleischer, Joris A Veltman, Michiel J Noordam
Microdeletions of the Y chromosome (YCMs), Klinefelter syndrome (47,XXY) and CFTR mutations are known genetic causes of severe male infertility, but the majority of cases remain idiopathic. Here we describe a novel method using single molecule Molecular Inversion Probes (smMIPs), to screen infertile men for mutations and copy number variations (CNVs) affecting known disease genes. We designed a set of 4,525 smMIPs targeting the coding regions of causal (n = 6) and candidate (n = 101) male infertility genes...
August 11, 2017: Human Mutation
https://www.readbyqxmd.com/read/28800122/increased-expression-of-plasma-induced-abcc1-mrna-in-cystic-fibrosis
#5
Justin E Ideozu, Xi Zhang, Amy Pan, Zainub Ashrafi, Katherine J Woods, Martin J Hessner, Pippa Simpson, Hara Levy
The ABCC1 gene is structurally and functionally related to the cystic fibrosis transmembrane conductance regulator gene (CFTR). Upregulation of ABCC1 is thought to improve lung function in patients with cystic fibrosis (CF); the mechanism underlying this effect is unknown. We analyzed the ABCC1 promoter single nucleotide polymorphism (SNP rs504348), plasma-induced ABCC1 mRNA expression levels, and ABCC1 methylation status and their correlation with clinical variables among CF subjects with differing CFTR mutations...
August 11, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28795233/bicarbonate-transport-during-enamel-maturation
#6
REVIEW
Kaifeng Yin, Michael L Paine
Amelogenesis (tooth enamel formation) is a biomineralization process consisting primarily of two stages (secretory stage and maturation stage) with unique features. During the secretory stage, the inner epithelium of the enamel organ (i.e., the ameloblast cells) synthesizes and secretes enamel matrix proteins (EMPs) into the enamel space. The protein-rich enamel matrix forms a highly organized architecture in a pH-neutral microenvironment. As amelogenesis transitions to maturation stage, EMPs are degraded and internalized by ameloblasts through endosomal-lysosomal pathways...
August 9, 2017: Calcified Tissue International
https://www.readbyqxmd.com/read/28794469/targeting-the-pi3k-akt-mtor-signalling-pathway-in-cystic-fibrosis
#7
R Reilly, M S Mroz, E Dempsey, K Wynne, S J Keely, E F McKone, C Hiebel, C Behl, J A Coppinger
Deletion of phenylalanine 508 of the cystic fibrosis transmembrane conductance regulator (ΔF508 CFTR) is a major cause of cystic fibrosis (CF), one of the most common inherited childhood diseases. ΔF508 CFTR is a trafficking mutant that is retained in the endoplasmic reticulum (ER) and unable to reach the plasma membrane. Efforts to enhance exit of ΔF508 CFTR from the ER and improve its trafficking are of utmost importance for the development of treatment strategies. Using protein interaction profiling and global bioinformatics analysis we revealed mammalian target of rapamycin (mTOR) signalling components to be associated with ∆F508 CFTR...
August 9, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28790180/pseudomonas-aeruginosa-lasb-protease-impairs-innate-immunity-in-mice-and-humans-by-targeting-a-lung-epithelial-cystic-fibrosis-transmembrane-regulator-il-6-antimicrobial-repair-pathway
#8
Vinciane Saint-Criq, Bérengère Villeret, Fabien Bastaert, Saadé Kheir, Aurélie Hatton, Aurélie Cazes, Zhou Xing, Isabelle Sermet-Gaudelus, Ignacio Garcia-Verdugo, Aleksander Edelman, Jean-Michel Sallenave
BACKGROUND: Pseudomonas aeruginosa lung infections are a huge problem in ventilator-associated pneumonia, cystic fibrosis (CF) and in chronic obstructive pulmonary disease (COPD) exacerbations. This bacterium secretes virulence factors that may subvert host innate immunity. OBJECTIVE: We evaluated the effect of P. aeruginosa elastase LasB, an important virulence factor secreted by the type II secretion system, on ion transport, innate immune responses and epithelial repair, both in vitro and in vivo...
August 8, 2017: Thorax
https://www.readbyqxmd.com/read/28780053/association-between-f508-deletion-in-cftr-and-chronic-pancreatitis-risk
#9
REVIEW
Dong Zhao, Yanzhen Xu, Jiatong Li, Shien Fu, Feifan Xiao, Xiaowei Song, Zhibin Xie, Min Jiang, Yan He, Chengwu Liu, Qiongxian Wen, Xiaoli Yang
BACKGROUND: The cystic fibrosis transmembrane conductance regulator (CFTR) has been reported to influence individual susceptibility to chronic pancreatitis (CP), but the results of previous studies are controversial. AIMS: We performed a study to demonstrate the relationship between CFTR and CP. METHODS: We searched PubMed, Scopus, and Embase for studies of patients with CP. Seven studies from 1995 to 2016 were identified, and included 64,832 patients...
July 1, 2017: Digestive and Liver Disease
https://www.readbyqxmd.com/read/28777004/whole-exome-sequencing-identify-the-6q12-q16-linkage-region-and-a-candidate-gene-ttk-for-pulmonary-nontuberculous-mycobacterial-disease
#10
Fei Chen, Eva P Szymanski, Kenneth N Olivier, Xinyue Liu, Hervé Tettelin, Steven M Holland, Priya Duggal
RATIONALE: Pulmonary nontuberculous mycobacterial (PNTM) disease often affects white postmenopausal women, with a tall and lean body habitus and higher rates of scoliosis, pectus excavatum, mitral valve prolapse, and mutations in the CFTR gene. These clinical features and the familial clustering of the disease suggest an underlying genetic mechanism. OBJECTIVES: To map the genes associated with PNTM, whole-exome sequencing (WES) was conducted in 12 PNTM families and 57 sporadic cases recruited at the NIH Clinical Center during 2001-2013...
August 4, 2017: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/28776713/the-cftr-gene-mild-variants-poly-t-tg-repeats-and-m470v-detection-in-indian-men-with-congenital-bilateral-absence-of-vas-deferens
#11
A Gaikwad, S Khan, S Kadam, K Kadam, V Dighe, R Shah, V Kulkarni, R Kumaraswamy, R Gajbhiye
The aim of the study was to detect the frequency of the CFTR gene variants poly-T, TG repeats and c.1408A>G p.Met470Val (M470V) in Indian men with congenital bilateral absence of the vas deferens (CBAVD). Men diagnosed with CBAVD (n = 76), their female partners (n = 76) and healthy men from general population (n = 50) were recruited. Genomic DNA was isolated and the polymorphic regions of IVS9- c.1210-12T [5] and M470V were amplified using specific primers followed by Sanger's DNA sequencing. A statistically significant increase in the frequency of heterozygous IVS9- c...
August 3, 2017: Andrologia
https://www.readbyqxmd.com/read/28775098/influenza-virus-infection-alters-ion-channel-function-of-airway-and-alveolar-cells-mechanisms-and-physiological-sequelae
#12
James D Londino, Ahmed Lazrak, James F Collawn, Zsuzsanna Bebok, Kevin S Harrod, Sadis Matalon
The cystic fibrosis transmembrane conductance regulator (CFTR) and the amiloride-sensitive epithelial sodium channels (ENaC) are located in the apical membranes of airway and alveolar epithelial cells. These transporters play an important role in the regulation of lung fluid balance across airway and alveolar epithelia by being the conduits for chloride (Cl(-)) and bicarbonate (HCO3(-)) secretion and sodium (Na(+)) ion absorption, respectively. The functional role of these channels in the respiratory tract is to maintain the optimum volume and ionic composition of the bronchial pericilary fluid (PCL) and alveolar lining fluid (ALF) layers...
August 3, 2017: American Journal of Physiology. Lung Cellular and Molecular Physiology
https://www.readbyqxmd.com/read/28774558/molecular-dynamics-of-the-cryo-em-cftr-structure
#13
Hedvig Tordai, Ibolya Leveles, Tamás Hegedűs
Cystic fibrosis (CF), a lethal monogenic disease, is caused by mutant variants of the CF transmembrane conductance regulator (CFTR). Recent advances in single molecule cryo-EM methods enabled structural determination of full-length human and zebrafish CFTR, achieving an important milestone for CF drug development. To relate these structures to the gating cycle, we examined its dynamic features using molecular dynamics simulations. Our results show that the nucleotide binding domains (NBDs) in this bottom-open apo conformation exhibit motions related to dimerization and the bottom-closed apo CFTR model indicates opening of NBDs in contrast to transporters...
July 31, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28771972/a-new-insight-into-cftr-allele-frequency-in-brazil-through-next-generation-sequencing
#14
Luisa M Nunes, Roberto Ribeiro, Vivian D T Niewiadonski, Ester Sabino, Guilherme L Yamamoto, Débora R Bertola, Nelson Gaburo, Luiz Vicente R F da Silva Filho
BACKGROUND: As of 2013, fewer than 20% of patients in the Brazilian CF Registry had two CFTR mutations identified. The aim of this study was to sequence the coding region of the CFTR in Brazilian CF patients and determine the frequency of mutations in this cohort. METHODS: Patients with CF and those with suspected atypical CF or CFTR-related disorders were invited to enroll. Total DNA was extracted from blood samples, quantified, and purified. Library preparation was performed using Ion Xpress™ Plus gDNA and Amplicon Library preparation kits (Life Technologies), as well as sequencing using the Ion Torrent platform (Life Technologies)...
August 3, 2017: Pediatric Pulmonology
https://www.readbyqxmd.com/read/28771736/characterization-of-primary-rat-nasal-epithelial-cultures-in-cftr-knockout-rats-as-a-model-for-cf-sinus-disease
#15
Kiranya E Tipirneni, Do-Yeon Cho, Daniel F Skinner, Shaoyan Zhang, Calvin Mackey, Dong-Jin Lim, Bradford A Woodworth
OBJECTIVE: The objectives of the current experiments were to develop and characterize primary rat nasal epithelial cultures and evaluate their usefulness as a model of cystic fibrosis (CF) sinonasal transepithelial transport and CF transmembrane conductance regulator (CFTR) function. STUDY DESIGN: Laboratory in vitro and animal studies. METHODS: CFTR(+/+) and CFTR(-/-) rat nasal septal epithelia (RNSE) were cultured on semipermeable supports at an air-liquid interface to confluence and full differentiation...
August 3, 2017: Laryngoscope
https://www.readbyqxmd.com/read/28771236/the-cubicon-method-for-concentrating-membrane-proteins-in-the-cubic-mesophase
#16
Pikyee Ma, Dietmar Weichert, Luba A Aleksandrov, Timothy J Jensen, John R Riordan, Xiangyu Liu, Brian K Kobilka, Martin Caffrey
The lipid cubic phase (in meso) method is an important approach for generating crystals and high-resolution X-ray structures of integral membrane proteins. However, as a consequence of instability, it can be impossible-using traditional methods-to concentrate certain membrane proteins and complexes to values suitable for in meso crystallization and structure determination. The cubicon method described here exploits the amphiphilic nature of membrane proteins and their natural tendency to partition preferentially into lipid bilayers from aqueous solution...
September 2017: Nature Protocols
https://www.readbyqxmd.com/read/28767725/dna-mutation-motifs-in-the-genes-associated-with-inherited-diseases
#17
Michal Růžička, Petr Kulhánek, Lenka Radová, Andrea Čechová, Naďa Špačková, Lenka Fajkusová, Kamila Réblová
Mutations in human genes can be responsible for inherited genetic disorders and cancer. Mutations can arise due to environmental factors or spontaneously. It has been shown that certain DNA sequences are more prone to mutate. These sites are termed hotspots and exhibit a higher mutation frequency than expected by chance. In contrast, DNA sequences with lower mutation frequencies than expected by chance are termed coldspots. Mutation hotspots are usually derived from a mutation spectrum, which reflects particular population where an effect of a common ancestor plays a role...
2017: PloS One
https://www.readbyqxmd.com/read/28762521/sperm-cystic-fibrosis-transmembrane-conductance-regulator-expression-level-is-relevant-to-fecundity-of-healthy-couples
#18
P-B Sun, H-M Xu, K Li, H-C Li, A-J Chen, M-J Chen, H-T Dai, Y Ni
Cystic fibrosis transmembrane conductance regulator (CFTR) is relevant to sperm quality, sperm capacitation and male fertility. However, it is still unknown whether CFTR can be a potential parameter for fecundity prediction in healthy couples. In this study, 135 healthy couples were divided into groups according to their fertility. We demonstrated that the sperm CFTR expression level of healthy males who never impregnated their partners (49 cases, 38.68 ± 2.71%) was significantly lower than that of fertile men (86 cases, 46...
August 1, 2017: Andrologia
https://www.readbyqxmd.com/read/28756021/association-of-clinical-severity-of-cystic-fibrosis-with-variants-in-the-slc-gene-family-slc6a14-slc26a9-slc11a1-and-slc9a3
#19
Stéphanie Villa-Nova Pereira, José Dirceu Ribeiro, Carmen Sílvia Bertuzzo, Fernando Augusto Lima Marson
INTRODUCTION: Cystic fibrosis (CF) manifests with clinical and histopathological variability depending on environmental and genetic factors. Moreover, the genes encoding ion channels[rs3788766(SLC6A14), rs7512462(SLC26A9), rs17235416(SLC11A1) and rs17563161(SLC9A3)] have been insufficiently studied as modifier genes. Then, our objective was associate the variants in the genes of SLC family with 43 CF severity markers. METHODS: The variants were identified by real-time-PCR in 188 CF patients considering the CFTR genotype...
July 26, 2017: Gene
https://www.readbyqxmd.com/read/28751295/pseudo-bartter-syndrome-as-the-sole-manifestation-of-cystic-fibrosis-in-a-child-with-711-g-t-ivs8-5t-mutation-a-new-face-of-an-old-disease
#20
Faten Tinsa, Sondes Hadj Fredj, Imen Bel Hadj, Fatma Khalsi, Sonia Abdelhak, Khadija Boussetta, Taieb Messaoud
Pseudo-Bartter syndrome (PBS) describes an uncommon complication of cystic fibrosis leading to hypochloraemic, hypokalaemic metabolic alkalosis. PBS as the sole manifestation of cystic fibrosis in children is extremely rare and has never been described in patients carrying 5T variant. We report a clinical, biochemical and genetic study of a four year-old boy presenting a pseudo-Bartter syndrome as the sole manifestation of cystic fibrosis. All 27 exons and the flanking intron regions of the CFTR gene were analysed by PCR and direct sequencing...
August 1, 2017: Annales de Biologie Clinique
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