Examples of using Cftr in English and their translations into Polish
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Colloquial
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Ecclesiastic
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Ecclesiastic
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Official/political
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Programming
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Computer
Cystic fibrosis is caused by mutations in the CFTR gene.
Year experience of CFTR/AZF analysis in azoospermic men.
CFTR mutations lead to the development of cystic fibrosis CF.
The F508del mutation is the most common CFTR mutation worldwide.
Ivacaftor helps certain abnormal CFTR proteins open more often to improve chloride movement in and out of the cell.
Study 3: study in patients with CF with the F508del mutation in the CFTR gene.
Does the(tg)13(t)6 variant of cftr gene contributes to male infertility?
In 155 men(13.25%) we identified at least one mutation or IVS8-5T variant in CFTR gene.
Clinical efficacy in patients with the G970R mutation of the CFTR gene could not be established see section 5.1.
CF is an autosomal recessive disorder, which means, that only a person,who has two mutations in both allels of the CFTR gene is sick.
In your situation, if in the sick child both mutations in CFTR gene were detected, one should check, if the second child has the same mutations.
The most common causes of pancreatitis in children are gene mutations PRSS1, CFTR, SPINK1, CTRC.
Twenty-six patients out of the 34 enrolled(76.5%) had a CFTR genotype G551D/F508del with only 2 patients with a non-G551D mutation S549N.
The efficacy of Kalydeco in patients less than 18 years of age with an R117H mutation in the CFTR gene has not been established.
Study results suggest no direct relation between PRSS1,SPINK1 and CFTR genes and pancreatic cancer development but an increased risk of pancreatitis, which in turn increases the risk of pancreatic cancer.
Kalydeco is used to treat cystic fibrosis in patients aged 2 years andabove who have one of nine mutations in the gene for the protein called‘cystic fibrosis transmembrane conductance regulator' CFTR.
The exact mechanism leading ivacaftor to potentiate the gating activity of normal and some mutant CFTR forms in this system has not been completely elucidated.
If the patient's genotype is unknown, an accurate and validated genotyping method should be performed before starting treatment to confirm the presence of one of the above-listed gating(class III) mutations oran R117H mutation in at least one allele of the CFTR gene.
In situation, when parents are two carriers(both parents“produce” gametes with mutation of CFTR gene), distribution of the disease in offspring is compatibile with Mendelian inheritance.
Ivacaftor is a potentiator of the CFTR protein, i.e., in vitro ivacaftor increases CFTR channel gating to enhance chloride transport in specified gating mutations(as listed in section 4.1) with reduced channel-open probability compared to normal CFTR.
Kalydeco granules are indicated for the treatment of children with cystic fibrosis(CF) aged 2 years and older andweighing less than 25 kg who have one of the following gating mutations in the CFTR gene: G551D, G1244E, G1349D, G178R, G551S, S1251N, S1255P, S549N or S549R.
In study 6 in patients aged 6 years orolder with CF who had an R117H mutation in the CFTR gene, the treatment difference in mean change in sweat chloride from baseline through 24 weeks of treatment was -24 mmol/L 95% CI -28, -20.
The efficacy of Kalydeco has been evaluated in two Phase 3 randomised, double-blind, placebo-controlled,multi-centre studies of clinically stable patients with CF who had the G551D mutation in the CFTR gene on at least 1 allele and had FEV1≥40% predicted.
Ivacaftor acts at the level of the cystic fibrosis transmembrane conductance regulator(CFTR), a protein that forms a channel at the cell surface that allows the movement of particles such as chloride in and out of the cell.
In study 5,part 1 in patients who had a non-G551D gating mutation in the CFTR gene, treatment with ivacaftor led to a rapid(15 days) and substantial mean change from baseline in sweat chloride of -49 mmol/L(95% CI -57, -41) through 8 weeks of treatment.