Works matching DE "CYSTIC fibrosis transmembrane conductance regulator genetics"

Results: 16

Endogenous surface expression of ΔF508-CFTR mediates cAMP-stimulated Cl<sup>−</sup> current in CFTR<sup>ΔF508/ΔF508</sup> pig thyroid epithelial cells.

Published in:

Experimental Physiology, 2012, v. 97, n. 1, p. 115, doi. 10.1113/expphysiol.2011.060756

By:

Li, Yonghai;
Ganta, Suhasini;
Fong, Peying

Publication type:

Article

Gene Mutation in MicroRNA Target Sites of CFTR Gene: A Novel Pathogenetic Mechanism in Cystic Fibrosis?

Published in:

PLoS ONE, 2013, v. 8, n. 3, p. 1, doi. 10.1371/journal.pone.0060448

By:

Amato, Felice;
Seia, Manuela;
Giordano, Sonia;
Elce, Ausilia;
Zarrilli, Federica;
Castaldo, Giuseppe;
Tomaiuolo, Rossella

Publication type:

Article

Insulin-Like Growth Factor 1 (IGF-1) Enhances the Protein Expression of CFTR.

Published in:

PLoS ONE, 2013, v. 8, n. 3, p. 1, doi. 10.1371/journal.pone.0059992

By:

Lee, Ha Won;
Cheng, Jie;
Kovbasnjuk, Olga;
Donowitz, Mark;
Guggino, William B.

Publication type:

Article

Functional Modifications of Acid-Sensing Ion Channels by Ligand-Gated Chloride Channels.

Published in:

PLoS ONE, 2011, v. 6, n. 7, p. 1, doi. 10.1371/journal.pone.0021970

By:

Xuanmao Chen;
Paul Whissell;
Orser, Beverley A.;
MacDonald, John F.

Publication type:

Article

Cystic fibrosis transmembrane conductance regulator gene mutations and glutathione S-transferase null genotypes in cystic fibrosis patients in Brazil.

Published in:

Brazilian Journal of Pulmonology / Jornal Brasileiro de Pneumologia, 2012, v. 38, n. 1, p. 50, doi. 10.1590/S1806-37132012000100008

By:

Lima, Carmen Silvia Passos;
Ortega, Manoela Marques;
Marson, Fernando Augusto Lima;
Zulli, Roberto;
Ribeiro, Antônio Fernando;
Bertuzzo, Carmen Silvia

Publication type:

Article

CFTR Gene Mutations in the Egyptian Population: Current and Future Insights for Genetic Screening Strategy.

Published in:

Frontiers in Genetics, 2017, v. 8, p. 1, doi. 10.3389/fgene.2017.00037

By:

El-Seedy, Ayman S.;
Shafiek, Hanaa;
Kitzis, Alain;
Ladevèze, Véronique

Publication type:

Article

The CFTR-Associated Ligand Arrests the Trafficking of the Mutant ΔF508 CFTR Channel in the ER Contributing to Cystic Fibrosis.

Published in:

Cellular Physiology & Biochemistry (Karger AG), 2018, v. 45, n. 2, p. 639, doi. 10.1159/000487120

By:

Bergbower, Emily;
Boinot, Clement;
Sabirzhanova, Inna;
Guggino, William;
Cebotaru, Liudmila

Publication type:

Article

A new compound heterozygous CFTR mutation in a Chinese family with cystic fibrosis.

Published in:

Clinical Respiratory Journal, 2017, v. 11, n. 6, p. 696, doi. 10.1111/crj.12401

By:

Xie, Yingjun;
Huang, Xueqiong;
Liang, Yujian;
Xu, Lingling;
Pei, Yuxin;
Cheng, Yucai;
Zhang, Lidan;
Tang, Wen

Publication type:

Article

Impaired defenses of neonatal mouse alveolar macrophage with cftr deletion are modulated by glutathione and TGFβ1.

Published in:

Physiological Reports, 2017, v. 5, n. 6, p. 1, doi. 10.14814/phy2.13086

By:

Gauthier, Theresa W.;
Grunwell, Jocelyn R.;
Xiao-Du Ping;
Harris, Frank L.;
Brown, Lou Ann S.

Publication type:

Article

Exon 10 CFTR gene mutation in male infertility.

Published in:

Iranian Journal of Reproductive Medicine, 2012, v. 10, n. 4, p. 315

By:

Hojati, Zohreh;
Heidari, Somaye;
Motovali-Bashi, Majid

Publication type:

Article

Screening of ΔF508 mutation and IVS8-poly T polymorphism in CFTR gene in Tunisian infertile men without CBAVD.

Published in:

Andrologia, 2012, v. 44, p. 376, doi. 10.1111/j.1439-0272.2011.01193.x

By:

Ghorbel, M.;
Baklouti-Gargouri, S.;
Keskes, R.;
Sellami-Ben Hamida, A.;
Feki-Chakroun, N.;
Bahloul, A.;
Fakhfakh, F.;
Ammar-Keskes, L.

Publication type:

Article

Clinical expression of cystic fibrosis in a large cohort of Italian siblings.

Published in:

2018

By:

Terlizzi, Vito;
Lucarelli, Marco;
Salvatore, Donatello;
Angioni, Adriano;
Bisogno, Arianna;
Braggion, Cesare;
Buzzetti, Roberto;
Carnovale, Vincenzo;
Casciaro, Rosaria;
Castaldo, Giuseppe;
Cirilli, Natalia;
Collura, Mirella;
Colombo, Carla;
Di Lullo, Antonella Miriam;
Elce, Ausilia;
Lucidi, Vincenzina;
Madarena, Elisa;
Padoan, Rita;
Quattrucci, Serena;
Raia, Valeria

Publication type:

journal article

The ΔF508 Mutation in the Cystic Fibrosis Transmembrane Conductance Regulator Is Associated With Progressive Insulin Resistance and Decreased Functional β-Cell Mass in Mice.

Published in:

2015

By:

Fontés, Ghislaine;
Ghislain, Julien;
Benterki, Isma;
Zarrouki, Bader;
Trudel, Dominique;
Berthiaume, Yves;
Poitout, Vincent

Publication type:

journal article

Insights Into a Possible Influence on Gut Microbiota and Intestinal Barrier Function During Chronic Exposure of Mice to Imazalil.

Published in:

Toxicological Sciences, 2018, v. 162, n. 1, p. 113, doi. 10.1093/toxsci/kfx227

By:

Jin, Cuiyuan;
Xia, Jizhou;
Wu, Sisheng;
Tu, Wenqing;
Pan, Zihong;
Fu, Zhengwei;
Wang, Yueyi;
Jin, Yuanxiang

Publication type:

Article

A potentiator induces conformational changes on the recombinant CFTR nucleotide binding domains in solution.

Published in:

Cellular & Molecular Life Sciences, 2012, v. 69, n. 21, p. 3701, doi. 10.1007/s00018-012-1049-7

By:

Galfrè, Elena;
Galeno, Lauretta;
Moran, Oscar

Publication type:

Article

Transmembrane helical interactions in the CFTR channel pore.

Published in:

PLoS Computational Biology, 2017, v. 13, n. 6, p. 1, doi. 10.1371/journal.pcbi.1005594

By:

Das, Jhuma;
Aleksandrov, Andrei A.;
Cui, Liying;
He, Lihua;
Riordan, John R.;
Dokholyan, Nikolay V.

Publication type:

Article