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The specific effects on the proteome observed here can be attributed to the basic defect in NBS, defective DNA repair [14].
Kolbe, E. W. et al. CLCA4 variants determine the manifestation of the cystic fibrosis basic defect in the intestine.
Ritzka, M. et al. The CLCA gene locus as a modulator of the gastrointestinal basic defect in cystic fibrosis.
Ivacaftor is the first drug to treat the basic defect in cystic fibrosis, but only provides a response in a small number of patients.
And, while this drug targets a very specific form of cystic fibrosis that occurs in only four per cent of patients, the fact that similar drugs — which are also intended to address the basic defect in the faulty CFTR protein and which have shown promising results in initial laboratory trials — are being developed by Vertex and other companies seems to signal a new treatment paradigm.
And, while this drug targets a very specific form of cystic fibrosis that occurs in only four per cent of patients, the fact that similar drugs which are also intended to address the basic defect in the faulty CFTR protein and which have shown promising results in initial laboratory trials are being developed by Vertex and other companies seems to signal a new treatment paradigm.
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"While it is unlikely that any one treatment will cure heart failure, understanding the basic defects in failing hearts should pave the way for multiple new forms of treatment". The research was supported by grants from the National Institutes of Health, the American Heart Association, the Whitaker Foundation, and the Richard and Lynne Kaiser Family Foundation.
Prof Stuart Elborn, who led the European part of the trial from Queen's University Belfast, told the BBC News website: "This is very exciting and it really demonstrates that we can correct the basic defects in cystic fibrosis.
Results are reported of first principles VASP supercell calculations of basic defect migration in UN nuclear fuels.
"Starting in children may prevent the disease process developing if we correct the basic defect early in life.
Apart from the diagnostic sweat test and transepithelial nasal potential difference measurement, intestinal current measurement (ICM) can be used to characterize the CF basic defect ex vivo in excised rectal suction biopsies.
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