. "RIV/00216208:11130/09:5340" . . "Azad, AK" . "Jaspers, M." . "Dupont, L." . . "Human Mutation" . "Stanke, F." . "Mutations in the Amiloride-Sensitive Epithelial Sodium Channel in Patients With Cystic Fibrosis-Like Disease" . "1059-7794" . "Rauh, R." . . "US - Spojen\u00E9 st\u00E1ty americk\u00E9" . "Cuppens, H." . "29"^^ . "7" . . "Stuhrmann, M." . "Korbmacher, C." . . "Schwarz, M." . . "Skalick\u00E1, Veronika" . "Ferec, C." . "328105" . "11"^^ . . "De Boeck, K." . . "Tummler, B." . "P(NR9448), Z(MZ0FNM2005)" . . "des Georges, M." . . "11130" . "Korbmacher, J." . . "Vermeulen, F." . . "Bala\u0161\u010Dakov\u00E1, Miroslava" . . "We investigated whether mutations in the genes that code for the different subunits of the amiloride-sensitive epithelial sodium channel (ENaC) might result in cystic fibrosis (CF)-like disease. In a small fraction of the patients, the disease could be potentially explained by an ENaC mutation by a Mendelian mechanism, such as p.V114I and p.F61L in SCNN1A. More importantly, a more than three-fold significant increase in incidence of several rare ENaC polymorphisms was found in the patient group (30% vs. 9% in controls), indicating an involvement of ENaC in some patients by a polygenetic mechanism. Specifically, a significantly higher number of patients carried c.-55+5G > C or p.W493R in SCNN1A in the heterozygous state, with odds ratios (ORs) of 13.5 and 2.7, respectively. The p.W493R-SCNN1A polymorphism was even found to result in a four-fold more active ENaC channel when heterologously expressed in Xenopus laevis oocytes." . . "000267791700009" . "30" . . "[5B6E6A9176E1]" . "Mutations in the Amiloride-Sensitive Epithelial Sodium Channel in Patients With Cystic Fibrosis-Like Disease"@en . "Schwartz, M." . . "Mutations in the Amiloride-Sensitive Epithelial Sodium Channel in Patients With Cystic Fibrosis-Like Disease" . . "RIV/00216208:11130/09:5340!RIV10-MZ0-11130___" . "Cassiman, JJ" . "Boissier, B." . "Mutations in the Amiloride-Sensitive Epithelial Sodium Channel in Patients With Cystic Fibrosis-Like Disease"@en . "Girodon, E." . "We investigated whether mutations in the genes that code for the different subunits of the amiloride-sensitive epithelial sodium channel (ENaC) might result in cystic fibrosis (CF)-like disease. In a small fraction of the patients, the disease could be potentially explained by an ENaC mutation by a Mendelian mechanism, such as p.V114I and p.F61L in SCNN1A. More importantly, a more than three-fold significant increase in incidence of several rare ENaC polymorphisms was found in the patient group (30% vs. 9% in controls), indicating an involvement of ENaC in some patients by a polygenetic mechanism. Specifically, a significantly higher number of patients carried c.-55+5G > C or p.W493R in SCNN1A in the heterozygous state, with odds ratios (ORs) of 13.5 and 2.7, respectively. The p.W493R-SCNN1A polymorphism was even found to result in a four-fold more active ENaC channel when heterologously expressed in Xenopus laevis oocytes."@en . . . "Lebecque, P." . . . "Castellani, C." . . "Bassinet, L." . "1"^^ . . . . "Claustres, M." . "Fichou, Y." . "CF; CFTR; ENaC; SCNN1A; transmembrane conductance regulator; beta-subunit; pseudohypoaldosteronism type-1; congenital absence; liddles syndrome; cftr mutations; alpha-subunit; lung-disease; vas-deferens; na+ channel"@en . . "de Monestrol, I." . "Radojkovic, D." . . "Hjelte, L." .