Contribution of genetic factors other than CFTR to disease severity in cystic fibrosis

Hull, Jeremy; Thomson, Anne H.; Hull, J; Thomson, A H
December 1998
Thorax;Dec1998, Vol. 53 Issue 12, p1018
Academic Journal
journal article
No abstract available.


Related Articles

  • Activation of the epithelial Na+ channel (ENaC) requires CFTR CI- channel function. Reddy; Light, M.M. // Nature;11/18/1999, Vol. 402 Issue 6759, p301 

    Examines the ion channel regulation in the genetic disease cystic fibrosis. Dependence of epithelial Na+ channel on CFTR activity; Primary defect in Cl- channel permeability in cystic fibrosis; Factors in the reduced salt absorption in cystic fibrosis.

  • Association of CFTR gene mutation with bronchial asthma. Maurya, Nutan; Awasthi, Shally; Dixit, Pratibha // Indian Journal of Medical Research;Apr2012, Vol. 135 Issue 4, p469 

    Mutation on both the copies of cystic fibrosis transmembrane conductance regulator (CFTR) gene results in cystic fibrosis (CF), which is a recessively transmitted genetic disorder. It is hypothesized that individuals heterozygous for CFTR gene mutation may develop obstructive pulmonary diseases...

  • Variant Cystic Fibrosis Phenotypes in the Absence of CFTR Mutations. Groman, Joshua D.; Meyer, Michelle E.; Wilmott, Robert W.; Zeitlin, Pamela L.; Cutting, Garry R. // New England Journal of Medicine;8/8/2002, Vol. 347 Issue 6, p401 

    Background: Cystic fibrosis is a life-limiting autosomal recessive disorder with a highly variable clinical presentation. The classic form involves characteristic findings in the respiratory tract, gastrointestinal tract, male reproductive tract, and sweat glands and is caused by...

  • Finding Genetic Modifiers of Cystic Fibrosis. Haston, Christina K.; Hudson, Thomas J. // New England Journal of Medicine;10/6/2005, Vol. 353 Issue 14, p1509 

    Considers the identification of gene modifiers and their interactions in cystic fibrosis and other diseases. Suggestion that susceptibility genes and modifier genes are two biologic phenomena that few clinicians should ignore in the genome era; Report from the Gene Modifier Study group in the...

  • Cellular localization of the cystic fibrosis transmembrane conductance regulator in mouse intestinal tract. Ameen, Nadia; Alexis, John; Salas, Pedro // Histochemistry & Cell Biology;Jul2000, Vol. 114 Issue 1, p69 

    The cystic fibrosis transmembrane conductance regulator (CFTR) is a cAMP and cGMP-regulated chloride channel critical to the regulation of intestinal fluid, chloride, and bicarbonate secretion. In cystic fibrosis (CF), mutations in CFTR result in downregulation of CFTR function and small...

  • Complete cystic fibrosis transmembrane conductance regulator gene sequencing in patients with idiopathic chronic pancreatitis and controls. Weiss, F. U.; Simon, P.; Bogdanova, N.; Mayerle, J.; Dworniczak, B.; Horst, J.; Lerch, M. M. // Gut;Oct2005, Vol. 54 Issue 10, p1456 

    Background: Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene-many of which cause cystic fibrosis-have also been reported in patients with chronic pancreatitis. The authors examine whether mild or severe CFTR mutations, homozygous or compound heterozygous CFTR...

  • CFTR and male fertility--Impact beyond cystic fibrosis. Hsiao Chang Chan // Spermatogenesis;Jul-Sep2013, Vol. 3 Issue 3, p1 

    The article discusses research on the role of cystic fibrosis transmembrane conductance regulator (CFTR) in male sperm function. Several studies claimed that there is a common genetic basis between CF and congenital bilateral absence of the vas deferens (CBAVD). Another research revealed the...

  • A yeast phenomic model for the gene interaction network modulating CFTR-ΔF508 protein biogenesis. Louie, Raymond J.; Jingyu Guo; Rodgers, John W.; White, Rick; Shah, Najaf A.; Pagant, Silvere; Kim, Peter; Livstone, Michael; Dolinski, Kara; McKinney, Brett A.; Hong, Jeong; Sorscher, Eric J.; Bryan, Jennifer; Miller, Elizabeth A.; Hartman IV, John L. // Genome Medicine;2012, Vol. 4 Issue 12, p1 

    Background: The overall influence of gene interaction in human disease is unknown. In cystic fibrosis (CF) a single allele of the cystic fibrosis transmembrane conductance regulator (CFTR-ΔF508) accounts for most of the disease. In cell models, CFTR-ΔF508 exhibits defective protein...

  • Non-specific activation of the epithelial sodium channel by the CFTR chloride channel. Nagel, Georg; Szellas, Tanjef; Riordan, John R.; Friedrich, Thomas; Hartung, Klaus // EMBO Reports;Mar2001, Vol. 2 Issue 3, p249 

    The genetic disease cystic fibrosis is caused by mutation of the gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR). Controversial studies reported regulation of the epithelial sodium channel (ENaC) by CFTR. We found that uptake of 22Na+ through ENaC is modulated by...

  • New Therapies in Cystic Fibrosis. Ratjen, Felix; Grasemann, Hartmut // Current Pharmaceutical Design;2/11/2012, Vol. 18 Issue 5, p614 

    Cystic fibrosis is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene that lead to abnormalities in transepithelial ion transport in the airways of affected patients. Lung disease is the major contributor to morbidity and mortality in patients with cystic...


Read the Article


Sign out of this library

Other Topics