|
rs78655421
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Only three CBAVD patients were found with more than one CFTR mutation (delta F508/L206W, delta F508/R74W + D1270N, R117H/712-1G --> T), highlighting L206W, R74W/D1270N, and R117H as benign CF mutations.
|
7532150 |
1995 |
|
rs78655421
|
|
|
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 |
|
rs78655421
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The present study reports the genetic analysis of a family with different clinical forms of CF and addresses the difficulty of CF diagnosis in an individual with mutant alleles G542X and R117H because of the variable phenotype associated with R117H mutation.
|
18078365 |
2008 |
|
rs78655421
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Standards and guidelines for CFTR mutation testing.
|
12394352 |
2003 |
|
rs78655421
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Our results also suggest why R117H, R334W and R347P produce less severe clinical disease and have implications for our understanding of cystic fibrosis.
|
7680769 |
1993 |
|
rs78655421
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Cystic fibrosis pulmonary guidelines: pulmonary complications: hemoptysis and pneumothorax.
|
20675678 |
2010 |
|
rs78655421
|
|
|
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 |
|
rs78655421
|
|
|
0.900 |
GeneticVariation |
BEFREE |
This result is thus consistent with the hypothesis that PI and PS in CF are predisposed by the genotype at the CFTR locus; the PS phenotype occurs in patients who have one or two mild CFTR mutations, such as R117H, R334W, R347P, A455E, and P574H, whereas the PI phenotype occurs in patients with two severe alleles, such as delta F508, delta I507, Q493X, G542X, R553X, W1282X, 621 + 1G----T, 1717-1G----A, 556delA, 3659delC, I148T, G480C, V520F, G551D, and R560T.
|
1376016 |
1992 |
|
rs78655421
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis.
|
21422883 |
2011 |
|
rs78655421
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Cystic fibrosis mutational analysis identified seven patients who had the R117H mutation.
|
15997883 |
2005 |
|
rs78655421
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Generally, p.Arg117His-5T patients had more severe CF disease.
|
30279124 |
2019 |
|
rs78655421
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Human Genetics Society of Australasia position statement: population-based carrier screening for cystic fibrosis.
|
25431289 |
2014 |
|
rs78655421
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The three most frequent cystic fibrosis (CF)-causing CFTR mutations in the Dutch population (deltaF508, A455E, and G542X) and the three most frequent CFTR mutations potentially causing congenital bilateral absence of the vas deferens (CBAVD) in the Dutch population (deltaF508, R117H, and IVS8-5T) were analyzed.
|
9591500 |
1998 |
|
rs78655421
|
|
|
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 |
|
rs78655421
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.
|
19888064 |
2009 |
|
rs78655421
|
|
|
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 |
|
rs78655421
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders.
|
22475884 |
2012 |
|
rs78655421
|
|
|
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 |
|
rs78655421
|
|
|
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 |
|
rs78655421
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Laboratory standards and guidelines for population-based cystic fibrosis carrier screening.
|
11280952 |
2001 |
|
rs78655421
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR.
|
25981758 |
2015 |
|
rs78655421
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Delayed diagnosis of cystic fibrosis associated with R117H on a background of 7T polythymidine tract at intron 8.
|
16266832 |
2006 |
|
rs78655421
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The compound heterozygote cystic fibrosis (CF) mutation Phe508del with Arg117His-7T should not necessarily be considered benign in childhood.
|
18394117 |
2008 |
|
rs78655421
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Guidelines on the early management of infants diagnosed with cystic fibrosis following newborn screening.
|
20605539 |
2010 |
|
rs78655421
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In this report, we present an asymptomatic infant, seen for a second opinion, who was given the diagnosis of cystic fibrosis (CF) as a neonate based on the presence of two mutant alleles, DeltaF508 and R117H.
|
10103316 |
1999 |