About: Mutations in the Amiloride-Sensitive Epithelial Sodium Channel in Patients With Cystic Fibrosis-Like Disease

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
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. (en)
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 (en)
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 (en)
skos:notation	RIV/00216208:11130/09:5340!RIV10-MZ0-11130___
http://linked.open...avai/riv/aktivita	P Z
http://linked.open...avai/riv/aktivity	P(NR9448), Z(MZ0FNM2005)
http://linked.open...iv/cisloPeriodika	7
http://linked.open...vai/riv/dodaniDat	2010
http://linked.open...aciTvurceVysledku	Balaščaková, Miroslava
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Univerzita Karlova v Praze / 2. lékařská fakulta
http://linked.open...dnocenehoVysledku	328105
http://linked.open...ai/riv/idVysledku	RIV/00216208:11130/09:5340
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/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 (en)
http://linked.open.../riv/klicoveSlovo	transmembrane conductance regulator CFTR lung-disease CF congenital absence vas-deferens ENaC SCNN1A alpha-subunit beta-subunit cftr mutations liddles syndrome na+ channel pseudohypoaldosteronism type-1
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[5B6E6A9176E1]
http://linked.open...i/riv/nazevZdroje	Human Mutation
http://linked.open...in/vavai/riv/obor	EB
http://linked.open...ichTvurcuVysledku	1 (xsd:int)
http://linked.open...cetTvurcuVysledku	29 (xsd:int)
http://linked.open...vavai/riv/projekt	Polymorphisms in FSH- and androgen receptor genes and in the CFTR gene in the pathogenesis of severe reproductive disorders and in pharmacogenetic prevention of ovarian hyperstimulation syndrome
http://linked.open...UplatneniVysledku	2009
http://linked.open...v/svazekPeriodika	30
http://linked.open...iv/tvurceVysledku	Claustres, M. Ferec, C. Hjelte, L. Tummler, B. des Georges, M. Cuppens, H. Radojkovic, D. Stanke, F. Skalická, Veronika Castellani, C. De Boeck, K. Girodon, E. Schwarz, M. Stuhrmann, M. Balaščaková, Miroslava Azad, AK Cassiman, JJ Lebecque, P. Schwartz, M. Bassinet, L. Boissier, B. Dupont, L. Fichou, Y. Jaspers, M. Korbmacher, C. Korbmacher, J. Rauh, R. Vermeulen, F. de Monestrol, I.
http://linked.open...ain/vavai/riv/wos	000267791700009
http://linked.open...n/vavai/riv/zamer	Zdokonalení časné diagnostiky, prevence a léčby těžkých vrozených vývojových vad a chorob geneticky podmíněných či s genetickou dispozicí v prenatální a postnatální fázi vývoje
issn	1059-7794
number of pages	11 (xsd:int)
http://localhost/t...ganizacniJednotka	11130
is http://linked.open...avai/riv/vysledek of	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 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

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