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 |
Generally, p.Arg117His-5T patients had more severe CF disease.
|
30279124 |
2019 |
rs78655421
|
|
|
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 |
rs78655421
|
|
|
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 |
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 |
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 |
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 |
Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR.
|
25981758 |
2015 |
rs78655421
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Human Genetics Society of Australasia position statement: population-based carrier screening for cystic fibrosis.
|
25431289 |
2014 |
rs78655421
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
The relative frequency of CFTR mutation classes in European patients with cystic fibrosis.
|
24440181 |
2014 |
rs78655421
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors.
|
24014130 |
2014 |
rs78655421
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.
|
23974870 |
2013 |
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 |
Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders.
|
22475884 |
2012 |
rs78655421
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis.
|
21422883 |
2011 |
rs78655421
|
|
|
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 |
rs78655421
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Cystic fibrosis pulmonary guidelines: pulmonary complications: hemoptysis and pneumothorax.
|
20675678 |
2010 |
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 |
UNIPROT |
Guidelines on the early management of infants diagnosed with cystic fibrosis following newborn screening.
|
20605539 |
2010 |
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 |
UNIPROT |
Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis.
|
19914445 |
2009 |
rs78655421
|
|
|
0.900 |
GeneticVariation |
BEFREE |
These results suggest that R117H should be withdrawn from CF mutation panels used for screening programmes.
|
19880712 |
2009 |
rs78655421
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Cystic Fibrosis Foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond.
|
19914443 |
2009 |
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
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders.
|
19092437 |
2008 |