The positional cloning of the gene responsible for cystic fibrosis (CF) was the important first
step in understanding the basic defect and pathophysiology of the disease. This study aims …

Non-coding RNAs (ncRNAs) are an abundant class of RNAs that include small ncRNAs,
long non-coding RNAs (lncRNA) and pseudogenes. The human ncRNA atlas includes …

Extensive phenotypic variability is commonly observed in individuals with Mendelian
disorders, even among those with identical genotypes in the disease-causing gene. To …

Purpose: Although 97–99% of CFTR mutations have been identified, great efforts must be
made to detect yet-unidentified mutations. Methods: We developed a small-scale next …

Background Actually, about 2000 sequence variations have been documented in the CFTR
gene requiring extensive and multi-step genetic testing in the diagnosis of cystic fibrosis and …

Cystic fibrosis (CF) is an autosomal recessive disorder characterized by the accumulation of
sticky and heavy mucus that can damage several organs. CF shows variable expressivity in …

Cystic fibrosis (CF) is one of the most common recessive conditions among whites, with an
estimated carrier frequency of 1 in 25 in the United States. Population-based CF carrier …

This study combines a clinical approach and multiple level cellular analyses to determine
the physiopathological consequences of the c. 1392G> T (p. Lys464Asn) CFTR exon 10 …

Cystic Fibrosis is the most frequent rare disease in the Caucasian population. This severe
hereditary recessive disease is caused by mutations in the Cystic Fibrosis transmembrane …

CFTR exon 10 and its flanking regions are duplicated in the human genome. These
duplications present mutations compared to the normal exon 10 sequence. Due to the …