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 ...

The CFTR gene encodes a transmembrane conductance regulator, which is dysfunctional in patients with cystic fibrosis (CF). The mechanism by which defective CFTR (CF transmembrane conductance regulator) leads to undersialylation of plasma membrane glycoconjugates, which in turn promote lung pathology and colonization with Pseudomonas aeruginosa causing lethal bacterial infections in CF, is not k...

We asked whether inclusion of the FLAG epitope in the fourth extracellular loop of the cystic fibrosis transmembrane conductance regulator (M2-901/CFTR), which permits detection of cell surface expression, affected CFTR's biophysical properties or channel regulation by kinases, phosphatases, and nucleotides. Channel activity of M2-901/CFTR was evaluated in numerous cell types and expression sys...

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...

presents a considerable management challenge to healthcare providers. In patients with CF, a defective gene causes a loss of cystic fibrosis transmembrane conductance regulator (CFTR) protein activity, which leads to a buildup of thick, sticky mucus. CF primarily affects the respiratory and digestive systems. Patients often experience progressive lung damage, which results in increased rates of...

For most expression studies focusing on the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) protein, sensitive and specific antibodies (Abs) are critically needed. Several Abs have been produced commercially or by research laboratories for CFTR detection in both cell lines with heterologous or endogenous expression and native cells/tissues. Here, we review the applicability of most A...


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 This review assesses ELX-TEZ-IVA (Trikafta) ELX 100 mg, TEZ 50 IVA...