Cystic Fibrosis
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Cystic fibrosis (CF) is a genetic disease caused by mutations in the cystic fibrosis transmembrane regulator (CFTR) gene resulting in absent or deficient expression and function of CFTR protein.
|
19642903 |
2009 |
Cystic Fibrosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Cystic fibrosis (CF) is the most common genetic disorder that causes a significant damage in secretory epithelial cells due to the defective ion flux across the cystic fibrosis transmembrane conductance regulator (CFTR) Cl<sup>-</sup> channel.
|
30618777 |
2018 |
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 |
AlteredExpression
|
disease |
LHGDN |
Protein kinase C epsilon-dependent regulation of cystic fibrosis transmembrane regulator involves binding to a receptor for activated C kinase (RACK1) and RACK1 binding to Na+/H+ exchange regulatory factor.
|
11956211 |
2002 |
Cystic Fibrosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
We previously selected AAV2.5T, a novel capsid that apically transduces CF human airway epithelia and efficiently restores CFTR function.
|
30962536 |
2019 |
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 |
Biomarker
|
disease |
BEFREE |
Dual therapy with tez/iva has paved the way for triple CFTR modulation currently in clinical trials with an ultimate view to provide modulation therapy to the majority of CF genotypes in the future.
|
31626570 |
2020 |
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 |
Biomarker
|
disease |
BEFREE |
CaCC is enhanced in cystic fibrosis (CF) epithelial cells lacking Cl(-) transport by the CF transmembrane conductance regulator (CFTR).
|
21907281 |
2011 |
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 |
CausalMutation
|
disease |
CLINVAR |
Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 mutations account for only 78% of CF chromosomes.
|
7513293 |
1994 |
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Cystic fibrosis mutation frequencies in upstate New York.
|
9401006 |
1997 |
Cystic Fibrosis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations?
|
15287992 |
2004 |
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 |
Biomarker
|
disease |
BEFREE |
In the present study, CF epithelial cells (sigmaCFTE29ó) were transduced with the retroviral vector MP1m encoding Pgp, and thus, a stable Pgp-overexpressing CF cell line (sigmaCFTE29óPgp) was established and used for studies of hypothesized CFTR complementation.
|
15964250 |
2005 |
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 |