endotheliumvascular smooth muscleP2Y-(2) and P2Y(1)-purinoceptor subtypesnitric oxideendothelium-derived hyperpolarizing factorHealthy endothelium provides a nonthrombogenic surface. In this study the authors investigated the effect of arterial flow on the saphenous vein endothelial expression of proteins ...
Most deaths associated with cystic fibrosis result from progressive and end-stage lung disease. In individuals with cystic fibrosis, the lungs are normal in utero, at birth, and after birth, before the onset of infection and inflammation (except possibly for the presence of dilated submucosal gland...
Cystic fibrosis carrier frequency and estimated prevalence of the disease in Morocco. J Cyst Fibros 2008;7:440–443. 40. Quint A, Lerer I, Sagi M, Abeliovich D. Mutation spectrum in Jewish cystic fibrosis patients in Israel: implication to carrier screening. Am J Med Genet A 2005...
Although CF carrier information will be of benefit to some individuals and couples, the inability of conventional prenatal diagnosis to provide definitive diagnostic outcomes to some couples, specifically those couples in which only one partner has a detectable mutation, will make for considerable ...
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 carrier frequency and estimated prevalence of the disease in Morocco. J Cyst Fibros 2008;7:440–443. Article PubMed Google Scholar Quint A, Lerer I, Sagi M, Abeliovich D. Mutation spectrum in Jewish cystic fibrosis patients in Israel: implication to carrier screening. Am J ...
The patient is a 55-year-old male with a history of recurrent pulmonary infections secondary to CF. He is chronically infected and has damage to the left upper lobe. This is resulting in recurrent and chronic pulmonary infections beyond even what we would see with cystic fibrosis. He’s a ...
Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population. Am J Hum Genet. 1992;51:951–6. CAS PubMed PubMed Central Google Scholar Lukacs GL, Durie PR. Pharmacologic approaches to correcting the...
et al. Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genet. Med. 3, 149–154 (2001). Article CAS PubMed Google Scholar Grody, W. W., Cutting, G. R. & Watson, M. S. The cystic fibrosis mutation “arms race”: when less is more. Genet....
4 ⅐ No. 6 editorial Cystic fibrosis carrier screening: Issues in implementation The transition of testing in the cystic fibrosis transmem- brane conductance regulator (CFTR) gene to a prenatal and preconceptional carrier screening program1,2 has been both interesting and informative. The long-...