TRPC6 gene variants in Czech adult patients with focal segmental glomerulosclerosis and minimal change disease

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F12%3A13436" target="_blank" >RIV/00216208:11110/12:13436 - isvavai.cz</a>

Alternative codes found

RIV/00064165:_____/12:13436

Result on the web

<a href="http://fb.cuni.cz/file/5653/FB2012A0026.pdf" target="_blank" >http://fb.cuni.cz/file/5653/FB2012A0026.pdf</a>

DOI - Digital Object Identifier

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Result language

angličtina

Original language name

TRPC6 gene variants in Czech adult patients with focal segmental glomerulosclerosis and minimal change disease

Original language 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 wasfound 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, onthe 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 mutat

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

EB - Genetics and molecular biology

OECD FORD branch

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Project

<a href="/en/project/NS9779" target="_blank" >NS9779: Genetic factors influencing the progression of selected forms of nephrotic syndrome</a><br>

Continuities

Z - Vyzkumny zamer (s odkazem do CEZ)

Publication year

2012

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Folia Biologica

ISSN

0015-5500

e-ISSN

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Volume of the periodical

58

Issue of the periodical within the volume

4

Country of publishing house

CZ - CZECH REPUBLIC

Number of pages

4

Pages from-to

173-176

UT code for WoS article

000308272400006

EID of the result in the Scopus database

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