This HTML5 document contains 53 embedded RDF statements represented using HTML+Microdata notation.

The embedded RDF content will be recognized by any processor of HTML5 Microdata.

Namespace Prefixes

PrefixIRI
dctermshttp://purl.org/dc/terms/
n17http://linked.opendata.cz/resource/domain/vavai/projekt/
n10http://linked.opendata.cz/resource/domain/vavai/riv/tvurce/
n11http://linked.opendata.cz/resource/domain/vavai/subjekt/
n6http://linked.opendata.cz/ontology/domain/vavai/
n20http://linked.opendata.cz/resource/domain/vavai/zamer/
shttp://schema.org/
n4http://linked.opendata.cz/ontology/domain/vavai/riv/
rdfshttp://www.w3.org/2000/01/rdf-schema#
skoshttp://www.w3.org/2004/02/skos/core#
n2http://linked.opendata.cz/resource/domain/vavai/vysledek/
rdfhttp://www.w3.org/1999/02/22-rdf-syntax-ns#
n8http://linked.opendata.cz/ontology/domain/vavai/riv/klicoveSlovo/
n18http://linked.opendata.cz/ontology/domain/vavai/riv/duvernostUdaju/
xsdhhttp://www.w3.org/2001/XMLSchema#
n15http://linked.opendata.cz/resource/domain/vavai/vysledek/RIV%2F00064165%3A_____%2F12%3A13436%21RIV13-MZ0-00064165/
n14http://linked.opendata.cz/ontology/domain/vavai/riv/aktivita/
n12http://linked.opendata.cz/ontology/domain/vavai/riv/jazykVysledku/
n19http://linked.opendata.cz/ontology/domain/vavai/riv/obor/
n16http://linked.opendata.cz/ontology/domain/vavai/riv/druhVysledku/
n9http://reference.data.gov.uk/id/gregorian-year/

Statements

Subject Item
n2:RIV%2F00064165%3A_____%2F12%3A13436%21RIV13-MZ0-00064165
rdf:type
skos:Concept n6:Vysledek
rdfs:seeAlso
http://fb.cuni.cz/file/5653/FB2012A0026.pdf
dcterms:description
Blood filtration and formation of primary urine in the kidney glomerulus is provided by a specialized membrane called slit diaphragm located between well-branched pedicels of podocytes. Actually, the slit diaphragm is a protein supercomplex, whose disruption can cause failure of renal filtration, and patients usually manifest nephrotic syndrome. Recently, familial forms of nephrotic syndrome have been described which arise from malfunction of mutated proteins making up the slit diaphragm. In 2005 it was found that one of the proteins present in this complex was non-selective cation channel TRPC6. The aim of this work was to screen mutations and polymorphisms of the TRPC6 gene in a group of 64 Czech patients with nephrotic syndrome and subsequently, on the basis of these data, evaluate the role of mutations in the TRPC6 gene in Czech population. The analysis was performed by the PCR method followed by direct sequencing and high-resolution melting method. We have not identified any mutations in our group of patients. Two additional single nucleotide polymorphisms – p.P15S and p.A404V – were detected along with nucleotide changes that did not result in amino acid changes and with a few intronic changes. P.P15S heterozygotes were more frequent in patients with steroid-resistant FSGS than in steroid- sensitive patients (29 % versus 12.1 %). To conclude, we did not find any probable disease-causing mutation in the TRPC6 gene in the cohort of 64 Czech patients. The p.P15S polymorphism might have some influence on the therapeutic response of FSGS patients. Blood filtration and formation of primary urine in the kidney glomerulus is provided by a specialized membrane called slit diaphragm located between well-branched pedicels of podocytes. Actually, the slit diaphragm is a protein supercomplex, whose disruption can cause failure of renal filtration, and patients usually manifest nephrotic syndrome. Recently, familial forms of nephrotic syndrome have been described which arise from malfunction of mutated proteins making up the slit diaphragm. In 2005 it was found that one of the proteins present in this complex was non-selective cation channel TRPC6. The aim of this work was to screen mutations and polymorphisms of the TRPC6 gene in a group of 64 Czech patients with nephrotic syndrome and subsequently, on the basis of these data, evaluate the role of mutations in the TRPC6 gene in Czech population. The analysis was performed by the PCR method followed by direct sequencing and high-resolution melting method. We have not identified any mutations in our group of patients. Two additional single nucleotide polymorphisms – p.P15S and p.A404V – were detected along with nucleotide changes that did not result in amino acid changes and with a few intronic changes. P.P15S heterozygotes were more frequent in patients with steroid-resistant FSGS than in steroid- sensitive patients (29 % versus 12.1 %). To conclude, we did not find any probable disease-causing mutation in the TRPC6 gene in the cohort of 64 Czech patients. The p.P15S polymorphism might have some influence on the therapeutic response of FSGS patients.
dcterms:title
TRPC6 gene variants in Czech adult patients with focal segmental glomerulosclerosis and minimal change disease TRPC6 gene variants in Czech adult patients with focal segmental glomerulosclerosis and minimal change disease
skos:prefLabel
TRPC6 gene variants in Czech adult patients with focal segmental glomerulosclerosis and minimal change disease TRPC6 gene variants in Czech adult patients with focal segmental glomerulosclerosis and minimal change disease
skos:notation
RIV/00064165:_____/12:13436!RIV13-MZ0-00064165
n6:predkladatel
n11:ico%3A00064165
n4:aktivita
n14:P n14:Z
n4:aktivity
P(NS9779), Z(MSM0021620806)
n4:cisloPeriodika
4
n4:dodaniDat
n9:2013
n4:domaciTvurceVysledku
n10:8004773 n10:5925460 n10:6065031 n10:2694964 n10:2136724 n10:5909627 n10:7311982
n4:druhVysledku
n16:J
n4:duvernostUdaju
n18:S
n4:entitaPredkladatele
n15:predkladatel
n4:idSjednocenehoVysledku
175246
n4:idVysledku
RIV/00064165:_____/12:13436
n4:jazykVysledku
n12:eng
n4:klicovaSlova
focal segmental glomerulosclerosis; nephrotic syndrome; TRPC6
n4:klicoveSlovo
n8:nephrotic%20syndrome n8:focal%20segmental%20glomerulosclerosis n8:TRPC6
n4:kodStatuVydavatele
CZ - Česká republika
n4:kontrolniKodProRIV
[340B2532EF44]
n4:nazevZdroje
Folia Biologica
n4:obor
n19:EB
n4:pocetDomacichTvurcuVysledku
7
n4:pocetTvurcuVysledku
7
n4:projekt
n17:NS9779
n4:rokUplatneniVysledku
n9:2012
n4:svazekPeriodika
58
n4:tvurceVysledku
Šafránková, Hana Obeidová, Lena Kohoutová, Milada Lněnička, Petr Tesař, Vladimír Reiterová, Jana Štekrová, Jitka
n4:wos
000308272400006
n4:zamer
n20:MSM0021620806
s:issn
0015-5500
s:numberOfPages
4