نتایج جستجو برای: delta f508
تعداد نتایج: 54080 فیلتر نتایج به سال:
The role of CFTR in lysosome acidification was examined in CFPAC-1 pancreatic adenocarcinoma cells with the delta F508 mutation that were transduced with a retroviral vector (PLJ-CFPAC) or with the normal CFTR gene (CFTR-CFPAC). Steady-state lysosomal pHi in intact cells was lower in PLJ-CFPAC cells than CFTR-CFPAC cells (3.55 vs 3.80) and was not affected by cAMP or forskolin. Initial rates of...
Van Goor, Fredrick, Kimberly S. Straley, Dong Cao, Jesús González, Sabine Hadida, Anna Hazlewood, John Joubran, Tom Knapp, Lewis R. Makings, Mark Miller, Timothy Neuberger, Eric Olson, Victor Panchenko, James Rader, Ashvani Singh, Jeffrey H. Stack, Roger Tung, Peter D. J. Grootenhuis, and Paul Negulescu. Rescue of F508-CFTR trafficking and gating in human cystic fibrosis airway primary cultures...
DNA diagnostics, the detection of specific DNA sequences, will play an increasingly important role in medicine as the molecular basis of human disease is defined. Here, we demonstrate an automated, nonisotopic strategy for DNA diagnostics using amplification of target DNA segments by the polymerase chain reaction (PCR) and the discrimination of allelic sequence variants by a colorimetric oligon...
Cystic fibrosis is an autosomal recessive disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator gene. This disorder produces a variable phenotype including lung disease, pancreatic insufficiency, and meconium ileus plus bilateral agenesis of the vas deferens causing obstructive azoospermia and male infertility. Preimplantation genetic diagnosis is an alternativ...
The frequency of ∆F508 mutation in the CFTR gene was compared in Gypsy and European samples from 3 different geographical regions of Hungary. The frequency of ∆F508 mutation in a total of 21 Gypsy patients was 43%, with 0.144 homozygosity index. This frequency was 50% with 0.127 homozygosity index in a total of 531 European Hungarian patients. Among the Gypsy patients 52 % had unknown mutations...
Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) chloride channel cause cystic fibrosis. The F508 mutation produces defects in channel gating and cellular processing, whereas the G551D mutation produces primarily a gating defect. To identify correctors of gating, 50,000 diverse small molecules were screened at 2.5 M (with forskolin, 20 M) by an iodide uptake assay in ...
In view of the possible relation between pancreatic function and cystic fibrosis (CF) gene mutations, a detailed study on Italian patients was performed. Seventy pancreatic insufficient and 48 pancreatic sufficient patients were included after very accurate characterisation of their pancreatic and digestive function, all performed in the same CF centre. The CF gene deletion F508 was tested to d...
Background: Cystic fibrosis (CF) results from mutationsin the cystic fibrosis transmembrane conductance regula-tor (CFTR) gene, which encodes a chloride channel local-ized at the plasma membrane of diverse epithelia. Themost common mutation leading to CF, F508, occurs inthe first nucleotide-binding domain (NBD1) of CFTR. TheF508 mutation disrupts protein processing, lead...
Many polymerase chain reaction (PCR)-based methods for diagnosis of minute mutations are suboptimal for automated screening because of their reliance on gel electrophoresis or probe hybridization. In the method reported here, PCR products containing artificial methylation sites are analyzed by measuring incorporation of radiolabeled methyl groups. Primers are designed to amplify the possible mu...
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