نتایج جستجو برای: cystic fibrosis transmembrane conductance regulator protein
تعداد نتایج: 1434055 فیلتر نتایج به سال:
Cystic fibrosis (CF) is the most common life-shortening genetic disorder in the Caucasian population and is due to mutations at the CF transmembrane conductance regulator (CFTR) gene leading to dysfunction of the protein, which normally acts as a chloride channel. This basic defect is associated with a progressive and lethal lung disease [1]. Opportunistic respiratory infections are common in C...
We recently showed that the COOH terminus of the cystic fibrosis transmembrane conductance regulator associates with the submembranous scaffolding protein EBP50 (ERM-binding phosphoprotein 50 kD; also called Na(+)/H(+) exchanger regulatory factor). Since EBP50 associates with ezrin, this interaction links the cystic fibrosis transmembrane conductance regulator (CFTR) to the cortical actin cytos...
This review summarizes the newly discovered molecular mechanism of secretin-stimulated urine HCO3– excretion and role cystic fibrosis transmembrane conductance regulator (CFTR) in renal excretion. The secretin receptor is functionally expressed basolateral membrane HCO3–-secreting β-intercalated cells collecting duct. Here it activates a fast efficient secretion into serving to normalize metabo...
This report describes a DNA variant in the ovine cystic fibrosis transmembrane conductance regulator (CFTR) gene that has been previously reported as a putative cystic fibrosis causing mutation in humans. The variant is a guanine to adenine base change at position 1019 of the ovine CFTR cDNA, corresponding to an arginine (R) to glutamine (Q) amino acid substitution at position 297 in the predic...
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