Cystic Fibrosis - a very common genetic disease among the population - a general review
Journal of Education, Health and Sport, 2023 Cystic fibrosis is the most common genetic disease inherited in an autosomal recessive manner occurring among populations of Caucasian descent. It is an incurable, multi-composition monogenic disease caused by mutations in the gene encoding the CFTR ...
Julia Rutkowska +9 more
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Pancreatitis in A Patient with Cystic Fibrosis Taking Ivacaftor
Children, 2020 Pancreatitis is rare in pancreatic insufficient cystic fibrosis patients. While pancreatic insufficiency has been considered irreversible until now, in the current era of new therapies with modulators of the Cystic Fibrosis Transmembrane Regulator CFTR ...
Argyri Petrocheilou +2 more
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Medicine Science, 2021 Cystic fibrosis (CF, OMIM: #219700), caused by biallelic pathogenic variations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, is the most common monogenic disease.
Ayberk Turkyilmaz, Oguzhan Yarali
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Targeted therapies to improve CFTR function in cystic fibrosis [PDF]
, 2015 Cystic fibrosis is the most common genetically determined, life-limiting disorder in populations of European ancestry. The genetic basis of cystic fibrosis is well established to be mutations in the cystic fibrosis transmembrane conductance regulator ...
Brodlie, M +3 more
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Current Pharmaceutical Design, 2013 The cystic fibrosis transmembrane conductance regulator (CFTR) protein is a cAMP-regulated Cl- channel whose major function is to facilitate epithelial fluid secretion. Loss-of-function mutations in CFTR cause the genetic disease cystic fibrosis. CFTR is required for transepithelial fluid transport in certain secretory diarrheas, such as cholera, and ...
Verkman, Alan S +4 more
openaire +4 more sources
Physiological parameters of Brazilian silverside, Atherinella brasiliensis, embryos exposed to different salinities [PDF]
Neotropical IchthyologyInformation regarding organism changes due to the variation of abiotic factors such as salinity are essential in both ecotoxicological and environmental monitoring studies. For this reason, the Brazilian silverside (Atherinella brasiliensis) embryos were
Carolina Brioschi Delpupo +5 more
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Mechanisms of CFTR Functional Variants That Impair Regulated Bicarbonate Permeation and Increase Risk for Pancreatitis but Not for Cystic Fibrosis [PDF]
, 2014 CFTR is a dynamically regulated anion channel. Intracellular WNK1-SPAK activation causes CFTR to change permeability and conductance characteristics from a chloride-preferring to bicarbonate-preferring channel through unknown mechanisms.
Alkaade, Samer +26 more
core +4 more sources
Elevated Paracellular Glucose Flux across Cystic Fibrosis Airway Epithelial Monolayers Is an Important Factor for Pseudomonas aeruginosa Growth. [PDF]
, 2013 People with cystic fibrosis (CF) who develop related diabetes (CFRD) have accelerated pulmonary decline, increased infection with antibiotic-resistant Pseudomonas aeruginosa and increased pulmonary exacerbations.
AA Pezzulo +37 more
core +7 more sources
DIAGNOSTIC PROBLEMS OF MUCOVISCIDOSIS AND WAYS OF SOLUTION IN RUSSIA
Педиатрическая фармакология, 2014 Mucoviscidosis is a monogenic autosomal recessive caused by the CFTR gene mutations and characterized by pronounced genetic heterogeneity and clinical polymorphism, which emphasizes the need in comprehensive diagnosis and molecular-genetic verification ...
A. A. Baranov +10 more
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A conserved WXXE motif is an apical delivery determinant of ABC transporter C subfamily isoforms
Cell Structure and Function, 2023 ATP-binding cassette transporter isoform C7 (ABCC7), also designated as cystic fibrosis transmembrane conductance regulator (CFTR), is exclusively targeted to the apical plasma membrane of polarized epithelial cells.
Md Shajedul Haque +2 more
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