Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To estimate cystic fibrosis (CF) birth rates in Canada from 1971 to 2000 and to assess the population impact of genetic testing in families with a history of CF, after identification of the CF transmembrane conductance regulator gene in 1989.
|
16182667 |
2005 |
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Cystic fibrosis is an autosomal-recessive disease that is caused by a mutant <i>CFTR</i> (cystic fibrosis transmembrane conductance regulator) gene and is characterized by chronic bacterial lung infections and inflammation.
|
31184507 |
2019 |
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Liver disease is a severe complication in patients with Cystic Fibrosis (CF), a genetic disease caused by mutations in the gene encoding for cystic fibrosis transmembrane conductance regulator (CFTR) channel.
|
30071276 |
2019 |
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
p.W493R-SCNN1A was detected in three female carriers of F508del CFTR who did not show any symptoms of respiratory or intestinal disease that could be interpreted as the manifestation of CF or CFTR-related disorder.
|
21917531 |
2012 |
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
A large deletion in the CFTR gene in CBAVD.
|
16481891 |
2006 |
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The aim of this research was to determine if topical application of gentamicin to the nasal epithelium of patients with cystic fibrosis (CF) carrying stop mutations can express, in vivo, functional CFTR channels.
|
10712334 |
2000 |
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Based on previous studies demonstrating the beneficial effect of ivacaftor for PTC mutations following readthrough in vitro, we hypothesized that ivacaftor may enhance CFTR activity in CF patients expressing W1282X CFTR, and could be further enhanced by readthrough.
|
27707539 |
2017 |
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Cystic fibrosis mutation frequencies in upstate New York.
|
9401006 |
1997 |
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We suggest undertaking molecular studies extensively to annotate CFTR variants that will help Asian CF individuals to benefit from the precision medicine gaining momentum in the Western countries.
|
26437683 |
2015 |
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
As it is the case for F508del-CFTR (the most common CF mutant), low temperature treatment partially rescues a functional A561E-CFTR channel, suggesting that substitution of glutamic acid for alanine at position 561 does not completely abolish CFTR function.
|
14623323 |
2003 |
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We show in two independent CF populations that a lower newborn IRT estimate is associated with higher CFRD risk among individuals with severe CFTR genotypes, and we provide evidence to support a causal relationship.
|
24550193 |
2014 |
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Data on patients diagnosed with CF (N = 283), CFTR genotypes, CF carriers, and birth rate were collected.
|
26258862 |
2015 |
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Cystic fibrosis (CF) is the most common inherited disorder in Caucasian populations, with more than 1000 cystic fibrosis transmembrane conductance regulator (CFTR) mutations presently described.
|
15698945 |
2004 |
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Novel CFTR variants identified during the first 3 years of cystic fibrosis newborn screening in California.
|
23810505 |
2013 |
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
The Spectrum of CFTR Variants in Nonwhite Cystic Fibrosis Patients: Implications for Molecular Diagnostic Testing.
|
26708955 |
2016 |
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Oral glucose tolerance tests, mixed-meal tolerance tests, and glucose-potentiated arginine tests were compared preivacaftor initiation and 16 weeks postivacaftor initiation in CF participants with at least one CFTR gating or conductance mutation.
|
30130412 |
2019 |
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In this review, we provide the latest results and current progress of CFTR modulators for the treatment of cystic fibrosis, focusing on potentiators of CFTR channel gating and Phe508del processing correctors for the Phe508del CFTR mutation.
|
26097168 |
2015 |
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
First study of CF mutations in the CFTR gene of Iranian patients: detection of DeltaF508, G542X, W1282X, A120T, R117H, and R347H mutations.
|
15537723 |
2004 |
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Evidence is accumulating that secondary genetic factors separate from the CFTR locus significantly influence the severity of CF lung disease.
|
12677168 |
2003 |
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Cystic fibrosis (CF) is a genetic inherited disease due to mutations in the gene cystic fibrosis transmembrane conductance regulator (CFTR).
|
29094263 |
2018 |
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we show that a simple cellular CF disease model based on the bronchial epithelial ΔF508 cell line CFBE41o- can be used to validate functional CFTR correction.
|
27526025 |
2016 |
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These observations suggest that CAPN1 constitutes an appealing target for pharmacological intervention, as part of CF combination therapies restoring Phe508del-CFTR function.
|
31324722 |
2019 |
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We did a 24-week, placebo-controlled, double-blind, randomised clinical trial, which enrolled 69 patients with cystic fibrosis aged 6 years and older with Arg117His-CFTR and percentage of predicted forced expiratory volume in 1 s (% predicted FEV1) of at least 40.
|
26070913 |
2015 |
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Cystic fibrosis transmembrane conductance regulator mutations in azoospermic and oligospermic men and their partners.
|
20021716 |
2009 |
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Experimental assessment of splicing variants using expression minigenes and comparison with in silico predictions.
|
25066652 |
2014 |