ENaC mutations in patients with CF-like disease
نویسندگان
چکیده
منابع مشابه
Three Novel Mutations in Iranian Patients with Tay-Sachs Disease
Background: Tay-Sachs disease (TSD), or GM2 gangliosidosis, is a lethal autosomal recessive neurodegenerative disorder, which is caused by a deficiency of beta-hexosaminidase A (HEXA), resulting in lysosomal accumulation of GM2 ganglioside. The aim of this study was to identify the TSD-causing mutations in an Iranian population. Methods: In this study, we examined 31 patients for TSD-causing m...
متن کاملCombination of ENaC and CFTR mutations may predispose to cystic fibrosis-like disease.
The epithelial sodium channel (ENaC) is part of the complex protein cystic fibrosis transmembrane conductance regulator (CFTR)-interactome that plays a key role in the composition of the airway surface liquid and the mucociliary clearance in the airways. We have recently screened ENaC beta and gamma genes in 55 patients with diffuse bronchiectasis and with only one or no CFTR mutation/variant a...
متن کاملClass 1 CF Mutations
Since the discovery of the gene that causes Cystic Fibrosis, our knowledge of how mutations in this gene cause the varied pathophysiological manifestations of this disease has increased substantially. This knowledge has led to the possibility of new therapeutic approaches aimed at the basic defect. Class I mutations of CFTR include premature termination codons (PTCs) or stop codons. In the last...
متن کاملthree novel mutations in iranian patients with tay-sachs disease
background: tay-sachs disease (tsd), or gm2 gangliosidosis, is a lethal autosomal recessive neurodegenerative disorder, which is caused by a deficiency of beta-hexosaminidase a (hexa), resulting in lysosomal accumulation of gm2 ganglioside. the aim of this study was to identify the tsd-causing mutations in an iranian population. methods: in this study, we examined 31 patients for tsd-causing mu...
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ژورنال
عنوان ژورنال: Journal of Cystic Fibrosis
سال: 2008
ISSN: 1569-1993
DOI: 10.1016/s1569-1993(08)60003-x