نتایج جستجو برای: cystic fibrosis transmembrane conductance regulator protein
تعداد نتایج: 1434055 فیلتر نتایج به سال:
Introduction: Cystic Fibrosis (CF) is a progressive genetic disease that causes the production of thick mucus in lungs. A mutation cystic fibrosis transmembrane conductance regulator (CFTR) gene leads to malfunction CFTR protein. Current therapies for treat symptoms rather but not source. This study proposes using prime editing combination with mesenchymal stem cell-derived exosomes (MSCEs) as ...
A a Abstract. Cystic fibrosis (CF) is a common and serious condition with autosomal recessive inheritance. It is caused by mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR). The frequencies of mutations vary according to the ethnic origin of populations. We describe in this study a patient with cystic fibrosis. She was homozygous for a new nonsense mutation identi...
Cystic fibrosis (CF) is an autosomal recessive disorder and caused by variants in the Fibrosis Transmembrane Conductance Regulator (CFTR) gene. We aimed to study frequency of F508del variant, most common variant worldwide, patients with CF from Paraguay. The Paraguayan a clinical diagnosis was assessed using polymerase chain reaction followed sequencing PCR products. 43 86 (50%) were homozygous...
INTRODUCTION Recent studies suggest an important role of the cystic fibrosis transmembrane conductance regulator gene in the development of pancreatitis. It occurs approximately in 20% of patients with cystic fibrosis and almost exclusively in pancreatic sufficient people. Newborn screening and improved panels of deoxyribonucleic acid mutation analysis techniques are revealing more rare and non...
Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations in the cystic fibrosis transmembrane conductance regulator gene. This gene encodes a protein involved in epithelial anion channel. Cystic fibrosis is the most common life-limiting genetic disorder in Caucasians; it also affects other ethnic groups like the Blacks and the Native Americans. Cystic fibrosis is considered to...
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