CFTR gene mutation spectrum among 735 Iranian patients with cystic fibrosis: A comprehensive systematic review.
Sign Up to like & getrecommendations! Published in 2021 at "Pediatric pulmonology"
DOI: 10.1002/ppul.25647
Abstract: In this study, the spectrum and frequency of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations previously reported among Iranian cystic fibrosis (CF) patients have been reviewed and discussed. Using the keywords of Cystic Fibrosis,… read more here.
Keywords: cystic fibrosis; iranian patients; cftr gene; spectrum ... See more keywords
Association of M470V polymorphism of CFTR gene with variability of clinical expression of asthma: Case-report study.
Sign Up to like & getrecommendations! Published in 2019 at "Allergologia et immunopathologia"
DOI: 10.1016/j.aller.2018.06.007
Abstract: INTRODUCTION AND OBJECTIVES Asthma is a complex genetic disorder. Several genes have been found associated with asthma. The cystic fibrosis transmembrane conductance regulator (CFTR) gene is one of them. The aim of this study was… read more here.
Keywords: m470v polymorphism; cftr gene; study; report ... See more keywords
Carriers of cystic fibrosis among sperm donors: complete CFTR gene analysis versus CFTR genotyping.
Sign Up to like & getrecommendations! Published in 2020 at "Fertility and sterility"
DOI: 10.1016/j.fertnstert.2020.04.016
Abstract: OBJECTIVE To determine the frequency of cystic fibrosis (CF) carriers among sperm donors in Spain studied through a complete analysis of the CFTR gene and to compare the results with those that would have been… read more here.
Keywords: cystic fibrosis; sperm donors; among sperm; cftr gene ... See more keywords
A novel mutation (-195C>A) in the promoter region of CFTR gene is associated with Chinese Congenital Bilateral Absence of Vas Deferens (CBAVD).
Sign Up to like & getrecommendations! Published in 2019 at "Gene"
DOI: 10.1016/j.gene.2019.144007
Abstract: Congenital bilateral absence of vas deferens (CBAVD), a frequent cause of obstructive azoospermia and male infertility in Chinese, is mainly due to mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. This study aim… read more here.
Keywords: promoter region; gene; cftr gene; region cftr ... See more keywords
Spectrum of CFTR gene sequence variants in a northern Portugal population.
Sign Up to like & getrecommendations! Published in 2018 at "Pulmonology"
DOI: 10.1016/j.pulmoe.2017.12.007
Abstract: In Portugal, the spectrum of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene variants is not known. The main objective of this work was to determine the type and frequency of CFTR variants in a sample… read more here.
Keywords: cftr; spectrum; sequence variants; cftr gene ... See more keywords
Inferred inactivation of the CFTR gene in the duodena of mice exposed to hexavalent chromium (Cr(VI)) in drinking water supports its tumor-suppressor status and implies its potential role in Cr(VI)-induced carcinogenesis of the small intestines.
Sign Up to like & getrecommendations! Published in 2021 at "Toxicology and applied pharmacology"
DOI: 10.1016/j.taap.2021.115773
Abstract: Carcinogenicity of hexavalent chromium [Cr (VI)] has been supported by a number of epidemiological and animal studies; however, its carcinogenic mode of action is still incompletely understood. To identify mechanisms involved in cancer development, we… read more here.
Keywords: cftr; inactivation; hexavalent chromium; cftr gene ... See more keywords
Screening for the Most Common Mutations of CFTR Gene among Egyptian Children with Difficult-to-Treat Asthma.
Sign Up to like & getrecommendations! Published in 2020 at "Journal of pediatric genetics"
DOI: 10.1055/s-0040-1701446
Abstract: Cystic fibrosis (CF) is panethnic autosomal recessive disease that affects the exocrine glands of pancreas, lungs, and intestine. It is often misdiagnosed in developing countries as difficult-to-treat asthma. We enrolled 150 Egyptian families with one… read more here.
Keywords: difficult treat; treat asthma; common mutations; cftr gene ... See more keywords
F508del CFTR gene mutation in patients with allergic bronchopulmonary aspergillosis
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Asthma"
DOI: 10.1080/02770903.2017.1373808
Abstract: ABSTRACT Objective: The F508del mutation occurs in approximately 3.5% of Caucasian population of Northern Europe. Heterozygotes have increased risk for asthma and reduced pulmonary function. Allergic bronchopulmonary aspergillosis (ABPA) is more common in patients with… read more here.
Keywords: f508del; cftr gene; mutation; aspergillosis ... See more keywords
The association between variants in the CFTR gene and nonobstructive male infertility: A meta‐analysis
Sign Up to like & getrecommendations! Published in 2019 at "Andrologia"
DOI: 10.1111/and.13475
Abstract: The association of genetic variants and congenital bilateral absence of the vas deferens (CBAVD) has been well acknowledged. By contrast, the link between nonobstructive azoospermia (NOA) or oligospermia and alterations in the cystic fibrosis transmembrane… read more here.
Keywords: association; cftr gene; male infertility; gene ... See more keywords
Pharmacological and Genomic Approaches in Management of Cystic Fibrosis.
Sign Up to like & getrecommendations! Published in 2020 at "Critical reviews in eukaryotic gene expression"
DOI: 10.1615/critreveukaryotgeneexpr.2020030845
Abstract: Cystic fibrosis (CF) is an inherited recessive autosomal disorder that affects the lungs, the digestive system, and secretory glands. It is a lethal condition caused by a mutation in the gene cystic-fibrosis-transmembrane-conductance- regulator (CFTR), which… read more here.
Keywords: cystic fibrosis; genomic approaches; cftr gene; gene ... See more keywords
Genetic modification of cystic fibrosis with ΔF508 mutation of CFTR gene using the CRISPR system in peripheral blood mononuclear cells
Sign Up to like & getrecommendations! Published in 2021 at "Iranian Journal of Basic Medical Sciences"
DOI: 10.22038/ijbms.2020.50051.11415
Abstract: Objective(s): Cystic fibrosis (CF) is an inherited autosomal recessive disease that is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The present study aimed to investigate the genetic modification of CF… read more here.
Keywords: cystic fibrosis; f508 mutation; cftr gene; mutation cftr ... See more keywords