Cystic fibrosis is caused by a change, or mutation, in a gene called CFTR (cystic fibrosis transmembrane conductance regulator). The protein in this gene controls the flow of salt and fluids in and out of your cells. If the CFTR gene doesn’t work properly, a sticky mucus builds up in ...
Cystic fibrosis (CF) is the most common severe genetic disease of Caucasians. Recent work by several laboratories has resulted in the identification of the CF gene and its major mutation. These findings have greatly facilitated carrier detection and prenatal diagnosis for members of families with a...
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 ...
CFTR is an apical membrane anion channel that regulates fluid homeostasis in many organs including the airways, colon, pancreas and sweat glands. In cystic fibrosis, CFTR dysfunction causes significant morbidity/mortality. Whilst CFTR’s function as an i
The CF gene encodes for a protein the cystic fibrosis transmembrance conductance regulator (CFTR) which is a protein chloride channel that belongs to the family of adenosine triphosphate (ATP)-binding cassette (ABC) transporters. It consists of two membrane-spanning domains (MSD1, MSD2), two ...
(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 ...
Human MutationNunes V, Casals T, Gaona A, Antiñolo G, Ferrer-Calvete J, Pérez-Frías J, Tardío E, Molano J, Estivill X (1992) Cystic fibrosis patients with mutation 1949del84 in exon 13 of the CFTR gene have a similar clinical severity as Δ508 homozygotes. Hum Mut l:375–379...
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 ...
Despite the addition of cystic fibrosis transmembrane conductance regulator (CFTR) modulators to the cystic fibrosis (CF) treatment regimen, patients with CF continue to suffer from chronic bacterial infections that lead to progressive respiratory morbid
Walker, et al., “Production and characterisation of monoclonal and polyclonal antibodies to different regions of the cystic fibrosis transmembrane conductance regulator (CFTR): detection of immunologically related proteins”, Journal of Cell Science, (1995), 106:2433-2444. Wall, et al. “A 31-Mu...