نتایج جستجو برای: cystic fibrosis transmembrane conductance regulator protein

تعداد نتایج: 1434055  

Journal: :The European respiratory journal 2015
Lorenzo Guerra Maria Favia Stefano Castellani Giovanna Barbuti Pasqualina Montemurro Anna Diana Teresa Santostasi Angela M Polizzi Maria A Mariggiò Stephan J Reshkin Antonio Manca Valeria Casavola Massimo Conese

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...

Journal: :The Journal of Cell Biology 1999
Peter J. Mohler Silvia M. Kreda Richard C. Boucher Marius Sudol M. Jackson Stutts Sharon L. Milgram

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...

Journal: :The Journal of Physiology 2021

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...

Journal: :Journal of medical genetics 1996
S J Tebbutt A Harris D F Hill

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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