Better correctors are needed to repair cystic fibrosis transmembrane conductance regulator (CFTR) processing mutants that cause cystic fibrosis. Determining where the correctors bind to CFTR would aid in the development of new correctors. A recent study reported that the second nucleotide-binding domain (NBD2) was involved in binding of bithiazole correctors. Here, we show that bithiazole corre...

Executive Summary The lumacaftor and ivacaftor fixed dose combination oral tablet (OrkambiTM, Vertex Pharmaceuticals, Inc.) is the second Food and Drug Administration (FDA) approved member of a new pharmacologic class of drugs termed cystic fibrosis transmembrane conductance regulator (CFTR) modulators.[1] CFTR modulators target the underlying defect (reduced CFTR function) that causes disease ...

Cystic fibrosis (CF) is the most common fatal autosomal recessive disorder in the white population with a frequency of 1 in 2500 live births. Inherited defects in the cystic fibrosis transmembrane conductance regulator (CFTR) gene result in abnormal regulation of salt and water movement across membranes. The overall feature of CF is that secretions are dehydrated due to water deprivation of lum...

Since 1989 when the gene responsible for cystic fibrosis was cloned and designated the cystic fibrosis transmembrane conductance regulator (CFTR) gene, considerable progress has been made in the development of gene therapy for this disease. Clinical trials have already been performed using cationic liposome and adenoviral based gene transfer systems, measuring the safety and efficacy of this ne...

Celebrating the 25th anniversary of identifying the genetic cause of cystic fibrosis (CF), tremendous progress has been made in the understanding and the treatment of this complex, but still fatal disease [1]. Despite advances, several key questions about the pathomechanisms of CF remain poorly understood. For instance, the precise genetic and epigenetic mechanisms that regulate expression and ...

cystic fibrosis (cf) is a life-limiting autosomal recessive disorder affecting principally respiratory and digestive system . it is caused by cystic fibrosis transmembrane conductance regulator (cftr) gene mutation. the aim of this study was to determine the extent of repeat numbers and the degree of heterozygosity for c.3499+200ta(7_56) and d7s523 located in intron 17b and 1 cm proximal to the...


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 The inform non-binding recommendations that help guide decisions Canada's federal, provincial, territorial governments, with exception Quebec.
 This review assesses ELX-TEZ-IVA (Trikafta) ELX 100 mg, TEZ 50 IVA...

Cystic fibrosis (CF) is the most common severe autosomal recessive disorder caused by a wide spectrum of mutations in the gene encoding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The frequencies, types and distributions of mutations vary widely between different populations and ethnic groups. The aim of this study was to perform a comprehensive analysis of the C...

Background: Cystic fibrosis (CF) is a common autosomal recessive disorder that affects many body systems and is produced by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. CF is also the most frequently inherited disorder in the West. The aim of this study was to detect the mutations in the CFTR gene in two Iranian families with CF. Methods: After DNA extractio...