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Statements

Subject Item
n2:RIV%2F00216208%3A11130%2F09%3A5340%21RIV10-MZ0-11130___
rdf:type
n3:Vysledek skos:Concept
dcterms:description
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. 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.
dcterms:title
Mutations in the Amiloride-Sensitive Epithelial Sodium Channel in Patients With Cystic Fibrosis-Like Disease Mutations in the Amiloride-Sensitive Epithelial Sodium Channel in Patients With Cystic Fibrosis-Like Disease
skos:prefLabel
Mutations in the Amiloride-Sensitive Epithelial Sodium Channel in Patients With Cystic Fibrosis-Like Disease Mutations in the Amiloride-Sensitive Epithelial Sodium Channel in Patients With Cystic Fibrosis-Like Disease
skos:notation
RIV/00216208:11130/09:5340!RIV10-MZ0-11130___
n4:aktivita
n13:P n13:Z
n4:aktivity
P(NR9448), Z(MZ0FNM2005)
n4:cisloPeriodika
7
n4:dodaniDat
n11:2010
n4:domaciTvurceVysledku
n5:1421840
n4:druhVysledku
n10:J
n4:duvernostUdaju
n17:S
n4:entitaPredkladatele
n12:predkladatel
n4:idSjednocenehoVysledku
328105
n4:idVysledku
RIV/00216208:11130/09:5340
n4:jazykVysledku
n6:eng
n4:klicovaSlova
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
n4:klicoveSlovo
n9:CF n9:lung-disease n9:congenital%20absence n9:vas-deferens n9:alpha-subunit n9:pseudohypoaldosteronism%20type-1 n9:transmembrane%20conductance%20regulator n9:liddles%20syndrome n9:na%2B%20channel n9:CFTR n9:cftr%20mutations n9:SCNN1A n9:beta-subunit n9:ENaC
n4:kodStatuVydavatele
US - Spojené státy americké
n4:kontrolniKodProRIV
[5B6E6A9176E1]
n4:nazevZdroje
Human Mutation
n4:obor
n19:EB
n4:pocetDomacichTvurcuVysledku
1
n4:pocetTvurcuVysledku
29
n4:projekt
n15:NR9448
n4:rokUplatneniVysledku
n11:2009
n4:svazekPeriodika
30
n4:tvurceVysledku
Azad, AK Jaspers, M. Dupont, L. Stanke, F. Rauh, R. Cuppens, H. Stuhrmann, M. Korbmacher, C. Schwarz, M. Skalická, Veronika Ferec, C. De Boeck, K. Tummler, B. des Georges, M. Korbmacher, J. Vermeulen, F. Balaščaková, Miroslava Schwartz, M. Cassiman, JJ Boissier, B. Girodon, E. Lebecque, P. Castellani, C. Bassinet, L. Claustres, M. Fichou, Y. de Monestrol, I. Radojkovic, D. Hjelte, L.
n4:wos
000267791700009
n4:zamer
n18:MZ0FNM2005
s:issn
1059-7794
s:numberOfPages
11
n14:organizacniJednotka
11130