|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
Here we describe a case of a patient with CF (R117H/7 T/F508del) who presented with recurrent pancreatitis who was effectively treated with ivacaftor in the absence of respiratory symptoms.
|
31296159 |
2019 |
|
Signs and Symptoms, Respiratory
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here we describe a case of a patient with CF (R117H/7 T/F508del) who presented with recurrent pancreatitis who was effectively treated with ivacaftor in the absence of respiratory symptoms.
|
31296159 |
2019 |
|
Recurrent pancreatitis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here we describe a case of a patient with CF (R117H/7 T/F508del) who presented with recurrent pancreatitis who was effectively treated with ivacaftor in the absence of respiratory symptoms.
|
31296159 |
2019 |
|
Pancreatitis, Chronic
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here we describe a case of a patient with CF (R117H/7 T/F508del) who presented with recurrent pancreatitis who was effectively treated with ivacaftor in the absence of respiratory symptoms.
|
31296159 |
2019 |
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
Use of ivacaftor in late diagnosed cystic fibrosis monozygotic twins heterozygous for F508del and R117H-7T - a case report.
|
30975115 |
2019 |
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
Generally, p.Arg117His-5T patients had more severe CF disease.
|
30279124 |
2019 |
|
Lung diseases
|
|
0.040 |
GeneticVariation
|
BEFREE |
The "mild" gene variant, p.Arg117His in cystic fibrosis (CF) results in highly variable phenotypes ranging from male infertility to severe lung disease.
|
30279124 |
2019 |
|
Bronchiectasis
|
|
0.010 |
GeneticVariation
|
BEFREE |
For those with chest HRCT results available, 75% p.Arg117His-5TCF, 33% p.Arg117His-7TCF and 27% p.Arg117His-7TCFTR patients had bronchiectasis.
|
30279124 |
2019 |
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
We present a non-consanguineous family of three siblings who presented with diabetes mellitus (DM), two of whom had genetically confirmed cystic fibrosis (CF), with one pancreatic-sufficient mutation in the cystic fibrosis transmembrane conductance regulator (<i>CFTR</i>) gene (ΔF508/R117H;IVS8-5T).
|
30269055 |
2019 |
|
Diabetes Mellitus
|
|
0.010 |
GeneticVariation
|
BEFREE |
We present a non-consanguineous family of three siblings who presented with diabetes mellitus (DM), two of whom had genetically confirmed cystic fibrosis (CF), with one pancreatic-sufficient mutation in the cystic fibrosis transmembrane conductance regulator (<i>CFTR</i>) gene (ΔF508/R117H;IVS8-5T).
|
30269055 |
2019 |
|
Acute pancreatitis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Therefore, the aim of our study was to determine the functional importance of common cystic fibrosis transmembrane conductance regulator variations IVS8-poly T, R117H, and M470V for the severity of acute pancreatitis.
|
30132293 |
2019 |
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
We demonstrated that GCC agonism results in functional rescue of murine F508del/F508del and R117H/R117H Cftr and CFTR mutants in CF patient-derived intestinal spheres.
|
28978796 |
2017 |
|
Non-obstructive azoospermia
|
|
0.010 |
GeneticVariation
|
BEFREE |
In conclusion, the polyvariant mutant genes of CFTR: T5 allele and TG12-T5-V470 genotype are correlated with NOA, but F508del and R117H mutations have low possibility to be associated with NOA.
|
28456595 |
2017 |
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
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
|
|
0.900 |
GeneticVariation
|
BEFREE |
In 2014, ivacaftor was approved in the United States as a treatment for CF subjects aged greater than 6 years old with a copy of R117H-CFTR.
|
25698453 |
2015 |
|
Lung diseases
|
|
0.040 |
GeneticVariation
|
BEFREE |
We present a case demonstrating a substantial therapeutic effect of ivacaftor in a CF patient with genotype F508del/R117H and advanced lung disease.
|
25698453 |
2015 |
|
Congenital bilateral aplasia of vas deferens
|
|
0.880 |
GeneticVariation
|
BEFREE |
A total of 60 consecutive infertile males with a diagnosis of CAVD were subjected to CFTR gene analysis which revealed 13 different CFTR gene mutations and 1 intronic variant that led to aberrant splicing. p.Phe508del (n = 16) and p.Arg117His (n = 4) were among the most common severe forms of CFTR mutations identified.
|
24958810 |
2014 |
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
Patients with CBAVD carrying p.Arg117His and a severe CF mutation should benefit from a clinical evaluation and follow-up.
|
23378603 |
2013 |
|
Congenital bilateral aplasia of vas deferens
|
|
0.880 |
GeneticVariation
|
BEFREE |
Patients with CBAVD carrying p.Arg117His and a severe CF mutation should benefit from a clinical evaluation and follow-up.
|
23378603 |
2013 |
|
Congenital bilateral aplasia of vas deferens
|
|
0.880 |
GeneticVariation
|
BEFREE |
In the idiopathic azoospermic patients, the p.F508del, p.G542X, p.N1303K, p.S549N, p.I507del, and p.R117H mutations and those detected in our CBAVD cases were screened.
|
22103471 |
2012 |
|
Congenital bilateral aplasia of vas deferens
|
|
0.880 |
GeneticVariation
|
BEFREE |
Moreover, the common heterozygous F508del/5T and F508del/R117H were observed in 17 and 4% of CBAVD cases respectively, and the allele frequency in CBAVD was 17% for F508del, 25% for 5T and 3% for R117H.
|
22081250 |
2012 |
|
Congenital bilateral aplasia of vas deferens
|
|
0.880 |
GeneticVariation
|
BEFREE |
To evaluate five common cystic fibrosis trans-membrane conductance regulator (CFTR) mutations (ΔF508, G542X, R117H, W1282X and N1303K) in the Iranian infertile men with noncongenital absence of vas deferens (CAVD) obstructive azoospermia.
|
21976147 |
2011 |
|
Obstructive azoospermia
|
|
0.010 |
GeneticVariation
|
BEFREE |
To evaluate five common cystic fibrosis trans-membrane conductance regulator (CFTR) mutations (ΔF508, G542X, R117H, W1282X and N1303K) in the Iranian infertile men with noncongenital absence of vas deferens (CAVD) obstructive azoospermia.
|
21976147 |
2011 |
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
However knowledge about the residual function of R117H-CFTR channels in cystic fibrosis-affected organs, e.g. airways, intestines and sweat glands is presently lacking.
|
21507732 |
2011 |
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
We detected a new [R117L; L997F] CFTR complex allele in the four subjects with the highest sweat test values and CF.
|
20706124 |
2010 |