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Protein misfolding causes a wide spectrum of human disease, and therapies that target misfolding are transforming the clinical care of cystic fibrosis. Despite this success, however, very little is known about how disease-causing mutations affect the de novo folding landscape. Here we show that in...
Objective(s):More than 1500 registered mutations in cystic fibrosis transmembrane regulator (CFTR) gene are responsible for dysfunction of an ion channel protein and a wide spectrum of clinical manifestations in patients with cystic fibrosis (CF). This study was performed to investigate the frequency...
Although there have been numerous reports from around the world of mutations in the gene of chromosome 7 known as CFTR (cystic fibrosis transmembrane conductance regulator), little attention has been given to integrating these mutant alleles into a global understanding of the population molecular geneti...
(PCR)and subsequently studied with Sanger sequencing.Mutations/variationswere identified and compared with the control sequence searched in the NCBI database.ResultsHomozygous 5T mutation at the splicing site ahead of exon 10 of the CFTR gene was identified in bothbrothers in association with 13TG ...
(AZFregion)connectedwitholigospermiaorazoospermiaaswellasmutationsofthecysticfibrosistransmembraneconductanceregulator(CFTR)gene,whichisconnectedwithazoospermiaandcongenitalbilateralabsenceoftheVasdeferens(CBAVD).CBAVDaccountsfor1-2%ofthepopulationoftheinfertile,butotherwisehealthymalesandupto25%ofthosewithobstructive...
Considering better genetic counseling, CFTR gene detection and Preimplantation genetic diagnosis(PGD) are suggested for CBAVD couples who seek for reproductive assistance. KEYWORDS: Urogenital abnormalities, congenital bilateral absence of vas deferens;Azoospermia;Cystic fibrosis transmembrane conductance regulator...
Genetic testing of the cystic fibrosis transmembrane conductance (CFTR) gene is currently performed in patients with congenital bilateral absence of vas deferens (CBAVD). This study was conducted to investigate the role of mutations in the CFTR gene in CBAVD-dependent male infertility. 73 Chinese pat...
摘要: The key defect in cystic fibrosis is loss of chloride conductance, but mutations of the cystic fibrosis gene product, the CFTR, have multiple effects on cell physiology; new results help to reconcile these facts.关键词: vasoactive intestinal peptide VIP, hybrid antagonist hybrid peptides ...