检索结果 - Blanka Stibůrková

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  1. 1
    Metabolic Syndrome, Alcohol Consumption and Genetic Factors Are Associated with Serum Uric Acid Concentration

    Metabolic Syndrome, Alcohol Consumption and Genetic Factors Are Associated with Serum Uric Acid Concentration 由 Blanka Stibůrková, Markéta Pavlı́ková, Jitka Sokolová, Viktor Kožich

    出版 2014
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  2. 2
    Circulating microRNA alternations in primary hyperuricemia and gout

    Circulating microRNA alternations in primary hyperuricemia and gout 由 Jana Bohatá, Veronika Horváthová, Markéta Pavlı́ková, Blanka Stibůrková

    出版 2021
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  3. 3
    The impact of dysfunctional variants of ABCG2 on hyperuricemia and gout in pediatric-onset patients

    The impact of dysfunctional variants of ABCG2 on hyperuricemia and gout in pediatric-onset patients 由 Blanka Stibůrková, Kateřina Pavelcová, Markéta Pavlı́ková, Pavel Ješina, Karel Pavelká

    出版 2019
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  4. 4
    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

    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 由 Stanislav Kmoch, Hana Hartmannová, Blanka Stibůrková, Jakub Krijt, Marie Zikánová, Ivan Šebesta

    出版 2000
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  5. 5
    Evaluation of the Influence of Genetic Variants of SLC2A9 (GLUT9) and SLC22A12 (URAT1) on the Development of Hyperuricemia and Gout

    Evaluation of the Influence of Genetic Variants of SLC2A9 (GLUT9) and SLC22A12 (URAT1) on the Development of Hyperuricemia and Gout 由 Kateřina Pavelcová, Jana Bohatá, Markéta Pavlı́ková, Eliška Bubeníková, Karel Pavelká, Blanka Stibůrková

    出版 2020
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  6. 6
    Functional non-synonymous variants of ABCG2 and gout risk

    Functional non-synonymous variants of ABCG2 and gout risk 由 Blanka Stibůrková, Kateřina Pavelcová, Jakub Závada, Lenka Petrů, Pavel Šimek, Pavel Čepek, Markéta Pavlı́ková, Hirotaka Matsuo, Tony R. Merriman, Karel Pavelká

    出版 2017
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  7. 7
    Alterations in lipidome profiles distinguish early-onset hyperuricemia, gout, and the effect of urate-lowering treatment

    Alterations in lipidome profiles distinguish early-onset hyperuricemia, gout, and the effect of urate-lowering treatment 由 Aleš Kvasnička, David Friedecký, Radana Brumarová, Markéta Pavlı́ková, Kateřina Pavelcová, Jana Mašínová, Lenka Hasíková, Jakub Závada, Karel Pavelká, Pavel Ješina, Blanka Stibůrková

    出版 2023
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  8. 8
    Functional Characterization of Clinically-Relevant Rare Variants in ABCG2 Identified in a Gout and Hyperuricemia Cohort

    Functional Characterization of Clinically-Relevant Rare Variants in ABCG2 Identified in a Gout and Hyperuricemia Cohort 由 Yu Toyoda, Andrea Mančíková, Vladimír Krylov, Keito Morimoto, Kateřina Pavelcová, Jana Bohatá, Karel Pavelká, Markéta Pavlı́ková, Hiroshi Suzuki, Hirotaka Matsuo, Tappei Takada, Blanka Stibůrková

    出版 2019
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  9. 9
    Novel Somatic <scp><i>UBA1</i></scp> Variant in a Patient With <scp>VEXAS</scp> Syndrome

    Novel Somatic <scp><i>UBA1</i></scp> Variant in a Patient With <scp>VEXAS</scp> Syndrome 由 Blanka Stibůrková, Kateřina Pavelcová, Monika Beličková, Samuel J. Magaziner, Jason C. Collins, Achim Werner, David B. Beck, Veronika Balajková, Cyril Šálek, Martin Vostrý, H. Mann, Jiří Vencovský

    出版 2023
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  10. 10
    Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome

    Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome 由 Petr Vyleťal, Martina Kublová, Marie Hubálek Kalbáčová, Kateřina Hodaňová, Veronika Barešová, Blanka Stibůrková, Jakub Sikora, Helena Hůlková, J Živný, Jacek Majewski, Anne Simmonds, J. P. Fryns, Gopalakrishnan Venkat‐Raman, M. Elleder, Stanislav Kmoch

    出版 2006
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  11. 11
    Multiple common and rare variants of<i>ABCG2</i>cause gout

    Multiple common and rare variants of<i>ABCG2</i>cause gout 由 Toshihide Higashino, Tappei Takada, Hirofumi Nakaoka, Yu Toyoda, Blanka Stibůrková, Hiroshi Miyata, Yuki Ikebuchi, Hiroshi Nakashima, Seiko Shimizu, Makoto Kawaguchi, Masayuki Sakiyama, Akiyoshi Nakayama, A Akashi, Yuki Tanahashi, Yusuke Kawamura, Takahiro Nakamura, Kenji Wakai, Rieko Okada, Ken Yamamoto, Kazuyoshi Hosomichi, Tatsuo Hosoya, Kimiyoshi Ichida, Hiroshi Ooyama, Hiroshi Suzuki, Ituro Inoue, Tony R. Merriman, Nariyoshi Shinomiya, Hirotaka Matsuo

    出版 2017
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  12. 12
    GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes

    GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes 由 Akiyoshi Nakayama, Hirofumi Nakaoka, Ken Yamamoto, Masayuki Sakiyama, Amara Shaukat, Yu Toyoda, Yukinori Okada, Yoichiro Kamatani, Takahiro Nakamura, Tappei Takada, Katsuhisa Inoue, Tomoya Yasujima, Hiroaki Yuasa, Yuko Shirahama, Hiroshi Nakashima, Seiko Shimizu, Toshihide Higashino, Yusuke Kawamura, Hiraku Ogata, Makoto Kawaguchi, Yasuyuki Ohkawa, Inaho Danjoh, Atsumi Tokumasu, Keiko Ooyama, Toshimitsu Ito, Takaaki Kondo, Kenji Wakai, Blanka Stibůrková, Karel Pavelká, Lisa K. Stamp, Nicola Dalbeth, Yutaka Sakurai, Hiroshi Suzuki, Makoto Hosoyamada, Shin Fujimori, Takashi Yokoo, Tatsuo Hosoya, Ituro Inoue, Atsushi Takahashi, Michiaki Kubo, Hiroshi Ooyama, Toru Shimizu, Kimiyoshi Ichida, Nariyoshi Shinomiya, Tony R. Merriman, Hirotaka Matsuo

    出版 2016
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  13. 13
    Genome-wide association study revealed novel loci which aggravate asymptomatic hyperuricaemia into gout

    Genome-wide association study revealed novel loci which aggravate asymptomatic hyperuricaemia into gout 由 Yusuke Kawamura, Hirofumi Nakaoka, Akiyoshi Nakayama, Yukinori Okada, Ken Yamamoto, Toshihide Higashino, Masayuki Sakiyama, Toru Shimizu, Hiroshi Ooyama, Keiko Ooyama, Mitsuo Nagase, Yuji Hidaka, Yuko Shirahama, Kazuyoshi Hosomichi, Yuichiro Nishida, Ippei Shimoshikiryo, Asahi Hishida, Sakurako Katsuura‐Kamano, Seiko Shimizu, Makoto Kawaguchi, Hirokazu Uemura, Rie Ibusuki, Megumi Hara, Mariko Naito, Mikiya Takao, Mayuko Nakajima, Satoko Iwasawa, Hiroshi Nakashima, Keizo Ohnaka, Takahiro Nakamura, Blanka Stibůrková, Tony R. Merriman, Masahiro Nakatochi, Sahoko Ichihara, Mitsuhiro Yokota, Tappei Takada, Tatsuya Saitoh, Yoichiro Kamatani, Atsushi Takahashi, Kokichi Arisawa, Toshiro Takezaki, Keitaro Tanaka, Kenji Wakai, Michiaki Kubo, Tatsuo Hosoya, Kimiyoshi Ichida, Ituro Inoue, Nariyoshi Shinomiya, Hirotaka Matsuo

    出版 2019
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  14. 14
    Subtype-specific gout susceptibility loci and enrichment of selection pressure on <i>ABCG2</i> and <i>ALDH2</i> identified by subtype genome-wide meta-analyses of clinically defined gout patients

    Subtype-specific gout susceptibility loci and enrichment of selection pressure on <i>ABCG2</i> and <i>ALDH2</i> identified by subtype genome-wide meta-analyses of clinically define... 由 Akiyoshi Nakayama, Masahiro Nakatochi, Yusuke Kawamura, Ken Yamamoto, Hirofumi Nakaoka, Seiko Shimizu, Toshihide Higashino, Teruhide Koyama, Asahi Hishida, Kiyonori Kuriki, Miki Watanabe, Toru Shimizu, Keiko Ooyama, Hiroshi Ooyama, Mitsuo Nagase, Yuji Hidaka, Daisuke Matsui, Takashi Tamura, Takeshi Nishiyama, Chisato Shimanoe, Sakurako Katsuura‐Kamano, Naoyuki Takashima, Yuya Shirai, Makoto Kawaguchi, Mikiya Takao, Ryo Sugiyama, Yuzo Takada, Takahiro Nakamura, Hiroshi Nakashima, Masashi Tsunoda, Inaho Danjoh, Atsushi Hozawa, Kazuyoshi Hosomichi, Yu Toyoda, Yu Kubota, Tappei Takada, Hiroshi Suzuki, Blanka Stibůrková, Tanya J. Major, Tony R. Merriman, Nagato Kuriyama, Haruo Mikami, Toshiro Takezaki, Keitaro Matsuo, Sadao Suzuki, Tatsuo Hosoya, Yoichiro Kamatani, Michiaki Kubo, Kimiyoshi Ichida, Kenji Wakai, Ituro Inoue, Yukinori Okada, Nariyoshi Shinomiya, Hirotaka Matsuo

    出版 2020
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