Literature DB >> 19720813

Combination of ENaC and CFTR mutations may predispose to cystic fibrosis-like disease.

I Fajac, M Viel, N Gaitch, D Hubert, T Bienvenu.   

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Year:  2009        PMID： 19720813     DOI： 10.1183/09031936.00057309

Source DB:  PubMed          Journal:  Eur Respir J        ISSN： 0903-1936            Impact factor:   16.671


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  9 in total

1.  Allosteric inhibition of the epithelial Na+ channel through peptide binding at peripheral finger and thumb domains.

Authors:  Ossama B Kashlan; Cary R Boyd; Christos Argyropoulos; Sora Okumura; Rebecca P Hughey; Michael Grabe; Thomas R Kleyman
Journal:  J Biol Chem       Date:  2010-09-03       Impact factor: 5.157

2.  Novel mutation in the epithelial sodium channel causing type I pseudohypoaldosteronism in a patient misdiagnosed with cystic fibrosis.

Authors:  Francisco Mora-Lopez; Manuel Bernal-Quiros; Alfonso M Lechuga-Sancho; Jose Luis Lechuga-Campoy; Nestor Hernandez-Trujillo; Antonio Nieto
Journal:  Eur J Pediatr       Date:  2012-02-28       Impact factor: 3.183

3.  Whole-gene CFTR sequencing combined with digital RT-PCR improves genetic diagnosis of cystic fibrosis.

Authors:  Letizia Straniero; Giulia Soldà; Lucy Costantino; Manuela Seia; Paola Melotti; Carla Colombo; Rosanna Asselta; Stefano Duga
Journal:  J Hum Genet       Date:  2016-08-04       Impact factor: 3.172

Review 4.  Pathophysiology and Genetics of Bronchiectasis Unrelated to Cystic Fibrosis.

Authors:  Aleksandra Nikolic
Journal:  Lung       Date:  2018-05-12       Impact factor: 2.584

Review 5.  The cystic fibrosis gene: a molecular genetic perspective.

Authors:  Lap-Chee Tsui; Ruslan Dorfman
Journal:  Cold Spring Harb Perspect Med       Date:  2013-02-01       Impact factor: 6.915

6.  Association Between Cystic Fibrosis Severity Markers and CFTR Genotypes in Turkish Children.

Authors:  Abdurrahman Erdem Başaran; Ayşen Başaran; Dilara Fatma Kocacik Uygun; Elanur Yılmaz; Asef Moballegh; Latife Öz; Özgül Alper; Ayşen Bingöl
Journal:  Turk Thorac J       Date:  2021-11

7.  Oxidized Glutathione Increases Delta-Subunit Expressing Epithelial Sodium Channel Activity in Xenopus laevis Oocytes.

Authors:  Garett J Grant; Camila Coca; Xing-Ming Zhao; My N Helms
Journal:  Emed Res       Date:  2020-05-25

8.  Next-generation sequencing for identifying genetic mutations in adults with bronchiectasis.

Authors:  Wei-Jie Guan; Jia-Cheng Li; Fang Liu; Jian Zhou; Ya-Ping Liu; Chao Ling; Yong-Hua Gao; Hui-Min Li; Jing-Jing Yuan; Yan Huang; Chun-Lan Chen; Rong-Chang Chen; Xue Zhang; Nan-Shan Zhong
Journal:  J Thorac Dis       Date:  2018-05       Impact factor: 2.895

9.  Clinical and molecular characterization of the R751L-CFTR mutation.

Authors:  Iram J Haq; Mike Althaus; Aaron Ions Gardner; Hui Ying Yeoh; Urjita Joshi; Vinciane Saint-Criq; Bernard Verdon; Jennifer Townshend; Christopher O'Brien; Mahfud Ben-Hamida; Matthew Thomas; Stephen Bourke; Peter van der Sluijs; Ineke Braakman; Chris Ward; Michael A Gray; Malcolm Brodlie
Journal:  Am J Physiol Lung Cell Mol Physiol       Date:  2020-12-09       Impact factor: 5.464
  9 in total

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