P041 Clinical comparison of cystic fibrosis patients diagnosed through newborn screening in the first year of life with mutation 3849 + 10 kbC->T with homozygotes F508del
نویسندگان
چکیده
منابع مشابه
A Case of Cystic Fibrosis With a Rare Mutation (3849 + 10 kbC > T) and Normal Sweat Chloride Levels
Cystic Fibrosis is an autosomal recessive disorder, which is caused by mutations in CFTR gene on chromosome 7q31.2. The prevalence of CF is approximately 1 in 2500 in Caucasians. In other populations, it has been seen less frequently. Characteristic features include chronic pulmonary disease, pancreatic exocrine insuf-ficiency and secretory systems such as gastro-intestinal and reproductive sys...
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Cystic fibrosis is an autosomal recessive disease caused by a wide spectrum of mutations in the gene encoding for the cystic fibrosis transmembrane conductance regulator protein. These mutations that correlate with different phenotypes, vary in their frequency and distribution in different populations. In this study missense mutation R117H that associated with the different clinical symptoms wa...
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چکیده ندارد.
Restoration of CFTR function in patients with cystic fibrosis carrying the F508del-CFTR mutation
Restoration of BECN1/Beclin 1-dependent autophagy and depletion of SQSTM1/p62 by genetic manipulation or autophagy-stimulatory proteostasis regulators, such as cystamine, have positive effects on mouse models of human cystic fibrosis (CF). These measures rescue the functional expression of the most frequent pathogenic CFTR mutant, F508del, at the respiratory epithelial surface and reduce lung i...
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ژورنال
عنوان ژورنال: Journal of Cystic Fibrosis
سال: 2019
ISSN: 1569-1993
DOI: 10.1016/s1569-1993(19)30336-4