(Feb. 1 issue)1 furthers the evaluation of the ΔF508 mutation, which is associated with some cases of cystic fibrosis. Although its real effect may be to help in documenting the substantial clinical variation that can occur among persons who possess the same small genetic deletion, the ...
Multiple studies have shown a linkage exists between patients with chronic sinusitis and a single cystic fibrosis (CF) gene mutation, who do not meet diagnostic criteria for CF. This mutation occurs in the CFTR gene. We present a series of five patients (3M&2F), age 1-18, with a ...
Cystic fibrosis (CF) is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) Cl(-) channel. The mutations G551D and G1349D, which affect the nucleotide-binding domains (NBDs) of CFTR protein, reduce channel activity. This defect can be corrected pharmacologically...
CONTEXT: Chronic rhinosinusitis (CRS) is a common condition in the US general population, yet little is known about its underlying molecular cause. Chronic rhinosinusitis is a consistent feature of the autosomal recessive disorder cystic fibrosis (CF). OBJECTIVE: To determine whether mutations in the...
Cystic fibrosis (CF) is a common autosomal recessive disorder among people of European origin. With the localisation of the gene locus to chromosome 7q31 and the identification of closely linked polymorphic markers in 1985, it became possible to offer prenatal testing to couples at risk of having...
Cystic fibrosis, an autosomal recessive disease of epithelial chloride transport, can be caused by more than 1000 mutations in the gene encoding ... PB Davis - 《New England Journal of Medicine》 被引量: 20发表: 2015年 [Mucoviscidosis: CFTR mutation-specific therapy: a ray of sunshine in ...
Many patients with chronic pulmonary disease similar to that seen in cystic fibrosis have normal (or nondiagnostic) sweat chloride values. It has been difficult to make the diagnosis of cystic fibrosis in these patients because no associated mutation in the cystic fibrosis transmembrane conductance reg...
in patient-derived organoids (Fig.1f). These included common mutations causing cystic fibrosis (CFTRF508delandCFTRG542X) that are difficult to edit without the use of prime editors with flexible PAM recognition. In addition, we corrected mutations causing progressive familial intrahepatic cholestasis ...
DNA testing demonstrated homozygosity for the 3849+10kb C > T cystic fibrosis (CF) allele. This is the first description of homozygous expression of this allele in a male patient. Confirmation of fertility was established by demonstrating that his children were carriers of this allele. This ...
Mutation, an alteration in the genetic material (the genome) of a cell of a living organism or of a virus that is more or less permanent and that can be transmitted to the cell’s or the virus’s descendants. The genomes of organisms are all composed of