Search Results - "Stiburkova, B."

Hereditary xanthinuria is not so rare disorder of purine metabolism by Sebesta, I., Stiburkova, B., Krijt, J.

“…Hereditary xanthinuria (type I) is caused by an inherited deficiency of the xanthine oxidorectase (XDH/XO), and is characterized by very low concentration of…”
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Correction to: Trans-ancestral dissection of urate- and gout-associated major loci SLC2A9 and ABCG2 reveals primate-specific regulatory effects by Takei, Riku, Cadzow, Murray, Markie, David, Bixley, Matt, Phipps-Green, Amanda, Major, Tanya J, Li, Changgui, Choi, Hyon K, Li, Zhiqiang, Hu, Hua, Guo, Hui, He, Meian, Shi, Yongyong, Stamp, Lisa K, Dalbeth, Nicola, Merriman, Tony R, Wei, Wen-Hua

“…An amendment to this paper has been published and can be accessed via a link at the top of the paper…”
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Familial Juvenile Hyperuricemic Nephropathy: Localization of the Gene on Chromosome 16p11.2—and Evidence for Genetic Heterogeneity by Stibůrková, Blanka, Majewski, Jacek, Šebesta, Ivan, Zhang, Wenyong, Ott, Jurg, Kmoch, Stanislav

“…Familial juvenile hyperuricemic nephropathy (FJHN), is an autosomal dominant renal disease characterized by juvenile onset of hyperuricemia, gouty arthritis,…”
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Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome by Vylet'al, P., Kublová, M., Kalbáčová, M., Hodaňová, K., Barešová, V., Stibůrková, B., Sikora, J., Hůlková, H., živný, J., Majewski, J., Simmonds, A., Fryns, J.-P., Venkat-Raman, G., Elleder, M., Kmoch, S.

“…Autosomal dominant hyperuricemia, gout, renal cysts, and progressive renal insufficiency are hallmarks of a disease complex comprising familial juvenile…”
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Human adenylosuccinate lyase (ADSL), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients by KMOCH, S, HARTMANNOVA, H, STIBURKOVA, B, KRIJT, J, ZIKANOVA, M, SEBESTA, I

“…Adenylosuccinate lyase (ADSL) is a bifunctional enzyme acting in de novo purine synthesis and purine nucleotide recycling. ADSL deficiency is a selectively…”
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The impact of dysfunctional variants of ABCG2 on hyperuricemia and gout in pediatric-onset patients by Stiburkova, Blanka, Pavelcova, Katerina, Pavlikova, Marketa, Ješina, Pavel, Pavelka, Karel

“…ABCG2 is a high-capacity urate transporter that plays a crucial role in renal urate overload and extra-renal urate underexcretion. Previous studies have…”
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Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genes by STIBURKOVA, Blanka, MAJEWSKI, Jacek, MATTHIJS, Gert, FRYNS, Jean-Pierre, TORRES, Rosa, GARCIA PUIG, Juan, OTT, Jurg, KMOCH, Stanislav, HODANOVA, Katerina, ONDROVA, Lenka, JERAHBKOVA, Markéta, ZIKANOVA, Marie, VYLET'AL, Petr, SEBESTA, Ivan, MARINAKI, Anthony, SIMMONDS, Anne

“…Familial juvenile hyperuricaemic nephropathy (FJHN) is an autosomal dominant renal disease characterised by juvenile onset of hyperuricaemia, gouty arthritis,…”
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Functional non-synonymous variants of ABCG2 and gout risk by Stiburkova, Blanka, Pavelcova, Katerina, Zavada, Jakub, Petru, Lenka, Simek, Pavel, Cepek, Pavel, Pavlikova, Marketa, Matsuo, Hirotaka, Merriman, Tony R, Pavelka, Karel

“…Common dysfunctional variants of ATP binding cassette subfamily G member 2 (Junior blood group) (ABCG2), a high-capacity urate transporter gene, that result in…”
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Complement C4 gene copy number variations and polymorphisms, autoantibodies, and clinical manifestations of juvenile dermatomyositis– a multi-center study by Coss, Samantha Lynn, Aziz, Rabheh Abdul, Zhou, Danlei, Zhou, Bi, Miller, Katherine, Wu, Yee Ling, Ardoin, Stacy, Oberle, Edward, Driest, Kyla, Al Ahmed, Ohoud, Patwardhan, Anjali, Akoghlanian, Shoghik, Sivaraman, Vidya, Barbar-Smiley, Fatima, Drew, Joanne, Spencer, Charles, Pachman, Lauren, Morgan, Gabrielle, Mamyrova, Gulnara, Curiel, Rodolfo, Jones, Olcay, O’Hanlon, Terry, Rider, Lisa, Miller, Frederick, Padyukov, Leonid, Lundberg, Ingrid, Notarnicola, Antonella, Vencovský, Jiří, Stibůrková, Blanka, Kryštůfková, Olga, Yu, Chack-Yung

“…Abstract Juvenile dermatomyositis (JDM) is an autoimmune myopathy characterized by rash and muscle weakness. Complement C4 gene copy number (GCN) variation is…”
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469 DIAGNOSTIC APPROACH TO HEREDITARY RENAL HYPOURICEMIA by Sebesta, I, Stiburkova, B

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Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females by Zikánová, Marie, Wahezi, Dawn, Hay, Arielle, Stibůrková, Blanka, Pitts, Charles, Mušálková, Dita, Škopová, Václava, Barešová, Veronika, Součková, Olga, Hodaňová, Kateřina, Živná, Martina, Stránecký, Viktor, Hartmannová, Hana, Hnízda, Ales, Bleyer, Anthony J, Kmoch, Stanislav

“…Abstract Objectives Phosphoribosylpyrophosphate synthetase (PRPS1) superactivity is an X-linked disorder characterized by urate overproduction Online Mendelian…”
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Trans-ancestral dissection of urate- and gout-associated major loci SLC2A9 and ABCG2 reveals primate-specific regulatory effects by Takei, Riku, Cadzow, Murray, Markie, David, Bixley, Matt, Phipps-Green, Amanda, Major, Tanya J, Li, Changgui, Choi, Hyon K, Li, Zhiqiang, Hu, Hua, Guo, Hui, He, Meian, Shi, Yongyong, Stamp, Lisa K, Dalbeth, Nicola, Merriman, Tony R, Wei, Wen-Hua

“…Gout is a complex inflammatory arthritis affecting ~20% of people with an elevated serum urate level (hyperuricemia). Gout and hyperuricemia are essentially…”
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Unusual Presentation of Kelley-Seegmiller Syndrome by Sebesta, I., StibÅrková, B., Dvorakova, L., Hrebicek, M., Minks, J., Stolnaja, L., Vernerova, Z., Rychlik, I.

“…Female carriers of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency have somatic cell mosaicism of HPRT activity and are healthy. We report a…”
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Multiple common and rare variants of ABCG2 cause gout by Higashino, Toshihide, Takada, Tappei, Nakaoka, Hirofumi, Toyoda, Yu, Stiburkova, Blanka, Miyata, Hiroshi, Ikebuchi, Yuki, Nakashima, Hiroshi, Shimizu, Seiko, Kawaguchi, Makoto, Sakiyama, Masayuki, Nakayama, Akiyoshi, Akashi, Airi, Tanahashi, Yuki, Kawamura, Yusuke, Nakamura, Takahiro, Wakai, Kenji, Okada, Rieko, Yamamoto, Ken, Hosomichi, Kazuyoshi, Hosoya, Tatsuo, Ichida, Kimiyoshi, Ooyama, Hiroshi, Suzuki, Hiroshi, Inoue, Ituro, Merriman, Tony R, Shinomiya, Nariyoshi, Matsuo, Hirotaka

“…ObjectivePrevious studies have suggested an association between gout susceptibility and common dysfunctional variants in ATP-binding cassette transporter…”
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Tobacco cotyledons: A novel system for testing mutagenicity in plants by Babůrek, Ivan, Stibůrkovaá, Blanka, Levy, Avi, Angelis, Karel J.

“…The study of mutagenesis and DNA repair in plants lags behind studies of other organisms mainly because very few repair mutants are available…”
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Analysis of patients with renal hypouricemia in Czech population by Stiburkova, B., Sebesta, I., Ichida, K., Hosoyamada, M.

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Analysis of Excretion Fraction of Uric Acid by Stibůrková, B., Pospíšilová, E., Kmoch, S., Šebesta, I.

“…Excretion fraction of uric acid (EF UA ), is one of the most important hallmarks for diagnosis of familial juvenile hyperuricemic nephropathy (FJHN) and…”
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Genetic diseases by Inazu, T., Kawahara, T., Endou, H., Anzai, N., Sebesta, I., Stiburkova, B., Ichida, K., Hosoyamada, M., Testa, A., Leonardis, D., Catalano, F., Pisano, A., Mafrica, A., Spoto, B., Sanguedolce, M. C., Parlongo, R. M., Tripepi, G., Postorino, M., Enia, G., Zoccali, C., Mallamaci, F., Working Group, M., Luque de Pablos, A., Garcia-Nieto, V., Lopez-Menchero, J. C., Ramos-Trujillo, E., Gonzalez-Acosta, H., Claverie-Martin, F., Arsali, M., Demosthenous, P., Papazachariou, L., Athanasiou, Y., Voskarides, K., Deltas, C., Pierides, A., Lee, S., Jeong, K. H., Ihm, C., Lee, T. W., Lee, S. H., Moon, J. Y., Wi, J. G., Lee, H. J., Kim, E. Y., Rogacev, K., Friedrich, A., Hummel, B., Berg, J., Zawada, A., Fliser, D., Geisel, J., Heine, G. H., Brabcova, I., Dusilova-Sulkova, S., Krejcik, Z., Stranecky, V., Lipar, K., Marada, T., Stepankova, J., Viklicky, O., Buraczynska, M., Zukowski, P., Zaluska, W., Kuczmaszewska, A., Ksiazek, A., Gaggl, M., Weidner, S., Hofer, M., Kleinert, J., Fauler, G., Wallner, M., Kotanko, P., Sunder-Plassmann, G., Paschke, E., Heguilen, R., Albarracin, L., Politei, J., Liste, A. A., Bernasconi, A., Kusano, E., Russo, R., Pisani, A., Messalli, G., Imbriaco, M., Prikhodina, L., Ryzhkova, O., Polyakov, V., Lipkowska, K., Ostalska-Nowicka, D., Smiech, M., Jaroniec, M., Zaorska, K., Szaflarski, W., Nowicki, M., Zachwieja, J., D'arrigo, G., Moskowitz, J., Piret, S., Tashman, A., Velez, E.

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Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41 by Hodaňová, Kateřina, Majewski, Jacek, Kublová, Martina, Vyleťal, Petr, Kalbáčová, Marie, Stibůrková, Blanka, Hůlková, Helena, Chagnon, Yvon C., Lanouette, Christian-Marc, Marinaki, Anthony, Fryns, Jean-Pierre, Venkat-Raman, Gopalakrishnan, Kmoch, Stanislav

“…Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41. Autosomal-dominant juvenile hyperuricemia, gouty…”
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Diagnostic aspects of familial juvenile hyperuriceamic nephropathy by Stibůrková, B, Sebesta, I, Kmoch, S

“…BACKGROUND; Familial juvenile hyperuricemic nephropathy (FJHN) is a genetic disorder with the autosomal dominant mode of hereditability; characterized with…”
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