Mutations within the CF transmembrane receptor (CFTR) gene produce a variable phenotype, including pulmonary disease, pancreatic insufficiency, meconium ileus and infertility. Screening of antenatal/preconception patients to identify CFTR mutation carriers has been shown to reduce the incidence of CF-...
The N1303K mutation was identified in the second nucleotide binding fold of the cystic fibrosis (CF) gene last year. We have gathered data from laboratories throughout Europe and the United States of America in order to estimate its frequency and to attempt to characterise the clinical manifestat...
Therefore, membrane anchor or the coiled-coil domains of VAPB are not required for the observed stabilization. A mutation within the MSP domain (P56S in VAPB) destabilizes the protein and leads to the development of ALS (31). The mutant VAP retains activity in FFAT binding or UPR ...
Cystic fibrosis (CF) is considered one of the most common genetic diseases, affecting 1 in 2500–3500 live births in Caucasian populations1. Over 1500 mutations have been previously reported in theCFTRgene. Due to the high carrier rates, the American College of Obstetricians and Gynecologists (AC...
To date, little has been reported on the prevalence of cystic fibrosis in the Ecuadorian population where the mutation distribution appears to differ from that of Europe. We present a series of four Ecuadorian patients homozygous for the H609R mutation in the CFTR gene. This is the first ...
and ATP hydrolysis. Mutations in this gene cause cystic fibrosis, the most common lethal genetic disorder in populations of Northern European descent. The most frequently occurring mutation in cystic fibrosis, DeltaF508, results in impaired folding and trafficking of the encoded protein. Multiple pseud...
SPINK1 mutation N34S increases risk of pancreatitis in patients with CF & CFTR-related disorders Since the discovery of the CFTR gene mutations which cause cystic fibrosis (CF) in 1989 the average life expectancy of CF patients has almost doubled and n... CY Ooi,R Dorfman,K Keenan - 《Pe...
Case report of a Thai male cystic fibrosis patient with the 1898+1G>T splicing mutation in the CFTR gene: A review of east Asian cases. Hum Mutat 1998; 12: 361. CAS Google Scholar Wald NJ, Morris JK, Rodeck CH, Haddow JE, Palomaki GE . Cystic fibrosis: selecting the prenatal ...
Cystic fibrosis (CF) is a genetic disease caused by mutations in the CFTR gene that impair synthesis and trafficking of the protein or cause reduced chloride channel activity [3]. The most common defect is deletion of Phe508 (ΔF508 CFTR) in the first nucleotide-binding domain (NBD1). Δ...
Ivacaftor treatment of cystic fibrosis patients with the G551D mutation: a review of the evidence. Cystic fibrosis (CF) is a recessive disorder caused by mutations in the gene that encodes the CF transmembrane conductance regulator (CFTR) protein. CFTR p... Kavitha,Kotha,P John,... - 《The...