Search Results - "Stekrova, J"

SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Léri–Weill dyschondrosteosis by Hirschfeldova, K., Solc, R., Baxova, A., Zapletalova, J., Kebrdlova, V., Gaillyova, R., Prasilova, S., Soukalova, J., Mihalova, R., Lnenicka, P., Florianova, M., Stekrova, J.

“…The aim of the study was to analyze frequency of SHOX gene defects and selected dysmorphic signs in patients of both idiopathic short stature (ISS) and…”
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DNA analysis of renal electrolyte transporter genes among patients suffering from Bartter and Gitelman syndromes: summary of mutation screening by Urbanova, M, Reiterova, J, Stekrova, J, Lnenicka, P, Rysava, R

“…Patients with renal diseases associated with salt-losing tubulopathies categorized as Gitelman and classic form of Bartter syndrome have undergone genetic…”
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The influence of two megsin polymorphisms on the progression of IgA nephropathy by Maixnerová, D, Merta, M, Reiterová, J, Stekrová, J, Rysavá, R, Viklický, O, Obeidová, H, Tesar, V

“…The clinical course of chronic renal diseases and their progression to ESRD is highly variable. The strongest predictors of poor outcome of IgAN involve…”
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Influence of endothelin-1 gene polymorphisms on the progression of autosomal dominant polycystic kidney disease by Reiterová, J, Merta, M, Stekrová, J, Cabartová, Z, Cibulka, R, Maixnerová, D, Rysavá, R, Ríhová, Z, Tesar, V, Motán, J

“…A significant phenotypical variability is observed in autosomal dominant polycystic kidney disease (ADPKD). The variability cannot be fully explained by the…”
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The influence of three endothelin-1 polymorphisms on the progression of IgA nephropathy by Maixnerová, D, Merta, M, Reiterová, J, Stekrová, J, Rysavá, R, Obeidová, H, Viklický, O, Potmĕsil, P, Tesar, V

“…The clinical course of chronic renal diseases and their progression to ESRF is highly variable. Different candidate gene polymorphisms have been advocated as…”
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The influence of the endothelin-converting enzyme-1 gene polymorphism on the progression of autosomal dominant polycystic kidney disease by Reiterová, J, Merta, M, Stekrová, J, Tesar, V, Kmentová, D, Ríhová, Z, Rysavá, R, Viklický, O

“…BACKGROUND; A significant phenotypical variability is observed in autosomal dominant polycystic kidney disease (ADPKD), the most common renal hereditary…”
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PKD2 mutations in a Czech population with autosomal dominant polycystic kidney disease by Štekrová, Jitka, Reiterová, Jana, Merta, Miroslav, Damborský, Jirt, Židovská, Jana, Kebrdlová, Vera, Kohoutová, Milada

“…Background. Autosomal dominant polycystic kidney disease (ADPKD) is genetically heterogeneous and caused by mutations in at least three different loci. Based…”
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Influence of the alpha-adducin and ACE gene polymorphism on the progression of autosomal-dominant polycystic kidney disease by Merta, M, Reiterová, J, Stekrová, J, Rysava, R, Rihová, Z, Tesar, V, Viklický, O, Kmentova, D

“…A significant phenotypical variability is observed in autosomal dominant polycystic kidney disease (ADPKD). The variability can not be fully explained by the…”
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Molecular analysis of the APC and MYH genes in Czech families affected by FAP or multiple adenomas: 13 novel mutations by Vandrovcová, J., Štekrová, J., Kebrdlová, V., Kohoutová, M.

“…Familial adenomatous polyposis (FAP) is an autosomal dominant predisposition to colorectal cancer and is caused by germline mutations in the adenomatous…”
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TRPC6 gene variants in Czech adult patients with focal segmental glomerulosclerosis and minimal change disease by Obeidová, L, Reiterová, J, Lněnička, P, Štekrová, J, Šafránková, H, Kohoutová, M, Tesař, V

“…Blood filtration and formation of primary urine in the kidney glomerulus is provided by a specialized membrane called slit diaphragm located between…”
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Mutational analysis of the NPHS2 gene in Czech patients with idiopathic nephrotic syndrome by Reiterová, J, Safránková, H, Obeidová, L, Stěkrová, J, Maixnerová, D, Merta, M, Tesař, V

“…Focal segmental glomerulosclerosis and minimal change disease represent frequent histological patterns of renal injury in patients with nephrotic syndrome. Few…”
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Mutation analysis of the MYH gene in unrelated Czech APC mutation-negative polyposis patients by Šulová, M, Zı´dková, K, Kleibl, Z, Štekrová, J, Kebrdlová, V, Bortlı´k, M, Lukáš, M, Kohoutová, M

“…Abstract Some of the APC negative FAP and AFAP cases have recently been found to be attributable to MYH associated polyposis (MAP). MAP is an autosomal…”
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Familial adenomatous polyposis as a precancerosis of colon cancer by Vavra, P, Dostalik, J, Martinek, L, Zonca, P, Plevova, P, Kohoutova, M, Stekrova, J

“…Familial adenomatous polyposis is a genetic disorder caused by mutations of the adenomatous polyposis coli gene. This gene is localized on chromosome 5q21. The…”
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Mutational analysis of ACTN4, encoding α-actinin 4, in patients with focal segmental glomerulosclerosis using HRM method by Safaříková, M, Reiterová, J, Safránková, H, Stekrová, J, Zidková, A, Obeidová, L, Kohoutová, M, Tesař, V

“…α-Actinin 4, encoded by ACTN4, is an F-actin crosslinking protein which belongs to the spectrin gene superfamily. It has a head-to-tail homodimer structure…”
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Mutational Analysis of ACTN4, Encoding [alpha]-Actinin 4, in Patients with Focal Segmental Glomerulosclerosis Using HRM Method by Safaríková, M, Reiterová, J, Safránková, H, Stekrová, J, Zidková, A, Obeidová, L, Kohoutová, M, Tesar, V

“…α-Actinin 4, encoded by ACTN4, is an F-actin crosslinking protein which belongs to the spectrin gene superfamily. It has a head-to-tail homodimer structure…”
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The influence of vascular endothelial growth factor (VEGF) polymorphism on the progression of chronic glomerulonephritides by Safránková, H, Merta, M, Reiterová, J, Stekrová, J, Maixnerová, D, Ryšavá, R, Skibová, J, Tesař, V

“…Vascular endothelial growth factor is an important mediator in maintaining normal kidney functions. In addition, several lines of evidence show that…”
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Bilineal inheritance of pathogenic PKD1 and PKD2 variants in a Czech family with autosomal dominant polycystic kidney disease - a case report by Elisakova, Veronika, Merta, Miroslav, Reiterova, Jana, Baxova, Alica, Kotlas, Jaroslav, Hirschfeldova, Katerina, Obeidova, Lena, Tesar, Vladimir, Stekrova, Jitka

“…Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disorder, leading to end stage renal failure and kidney…”
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Influence of VEGF polymorphism on progression of autosomal dominant polycystic kidney disease by Reiterová, J, Obeidová, H, Lenícek, M, Stekrová, J, Merta, M, Maixnerová, D, Vítek, L, Viklický, O, Tesar, V

“…Significant phenotypical variability is observed in autosomal dominant polycystic kidney disease (ADPKD). Dysregulation of vascular endothelial growth factor…”
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DNA diagnosis and clinical manifestations of autosomal dominant polycystic kidney disease by Merta, M, Stekrová, J, Zidovská, J, Vorsilková, M, Walterová, J, Kapras, J, Alánová, M, Rasková, D, Gaillyová, R, Archmanová, E, Rysavá, R

“…At least 2 genes, detectable by DNA methods, encode autosomal dominant polycystic kidney disease (ADPKD), which remains the most frequent and serious…”
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Four novel mutations of the PKD2 gene in czech families with autosomal dominant polycystic kidney disease by Reiterová, J., Štekrová, J., Peters, D.J.M., Kapras, J., Kohoutová, M., Merta, M., Židovská, J.

“…Autosomal dominant polycystic kidney disease (ADPKD) is a genetically heterogeneous disease caused by mutations in at least three different loci. Mutations in…”
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