Kết quả tìm kiếm - Stibůrková, Blanka
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Complex Analysis of Urate Transporters SLC2A9, SLC22A12 and Functional Characterization of Non-Synonymous Allelic Variants of GLUT9 in the Czech Population: No Evidence of Effect o... Bằng Hurba, Olha, Mancikova, Andrea, Krylov, Vladimir, Pavlikova, Marketa, Pavelka, Karel, Stibůrková, Blanka
Được phát hành 2014Text -
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Evaluation of the Influence of Genetic Variants of SLC2A9 (GLUT9) and SLC22A12 (URAT1) on the Development of Hyperuricemia and Gout Bằng Pavelcova, Katerina, Bohata, Jana, Pavlikova, Marketa, Bubenikova, Eliska, Pavelka, Karel, Stiburkova, Blanka
Được phát hành 2020Text -
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Functional Characterization of Rare Variants in OAT1/SLC22A6 and OAT3/SLC22A8 Urate Transporters Identified in a Gout and Hyperuricemia Cohort Bằng Vávra, Jiří, Mančíková, Andrea, Pavelcová, Kateřina, Hasíková, Lenka, Bohatá, Jana, Stibůrková, Blanka
Được phát hành 2022Text -
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Interaction of the p.Q141K Variant of the ABCG2 Gene with Clinical Data and Cytokine Levels in Primary Hyperuricemia and Gout Bằng Horváthová, Veronika, Bohatá, Jana, Pavlíková, Markéta, Pavelcová, Kateřina, Pavelka, Karel, Šenolt, Ladislav, Stibůrková, Blanka
Được phát hành 2019Text -
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Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis Bằng Stiburkova, Blanka, Sebesta, Ivan, Ichida, Kimiyoshi, Nakamura, Makiko, Hulkova, Helena, Krylov, Vladimir, Kryspinova, Lenka, Jahnova, Helena
Được phát hành 2013Text -
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Identification of Two Dysfunctional Variants in the ABCG2 Urate Transporter Associated with Pediatric-Onset of Familial Hyperuricemia and Early-Onset Gout Bằng Toyoda, Yu, Pavelcová, Kateřina, Bohatá, Jana, Ješina, Pavel, Kubota, Yu, Suzuki, Hiroshi, Takada, Tappei, Stiburkova, Blanka
Được phát hành 2021Text -
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Renal Hypouricemia 1: Rare Disorder as Common Disease in Eastern Slovakia Roma Population Bằng Stiburkova, Blanka, Bohatá, Jana, Pavelcová, Kateřina, Tasic, Velibor, Plaseska-Karanfilska, Dijana, Cho, Sung-Kweon, Potočnaková, Ludmila, Šaligová, Jana
Được phát hành 2021Text -
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Analysis of Purine Metabolism to Elucidate the Pathogenesis of Acute Kidney Injury in Renal Hypouricemia Bằng Miyamoto, Daisuke, Sato, Nana, Nagata, Koji, Sakai, Yukinao, Sugihara, Hitoshi, Ohashi, Yuki, Stiburkova, Blanka, Sebesta, Ivan, Ichida, Kimiyoshi, Okamoto, Ken
Được phát hành 2022Text -
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Functional Characterization of Clinically-Relevant Rare Variants in ABCG2 Identified in a Gout and Hyperuricemia Cohort Bằng Toyoda, Yu, Mančíková, Andrea, Krylov, Vladimír, Morimoto, Keito, Pavelcová, Kateřina, Bohatá, Jana, Pavelka, Karel, Pavlíková, Markéta, Suzuki, Hiroshi, Matsuo, Hirotaka, Takada, Tappei, Stiburkova, Blanka
Được phát hành 2019Text -
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Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females Bằng 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
Được phát hành 2018Text -
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Uric acid, an important screening tool to detect inborn errors of metabolism: a case series Bằng Jasinge, Eresha, Kularatnam, Grace Angeline Malarnangai, Dilanthi, Hewa Warawitage, Vidanapathirana, Dinesha Maduri, Jayasena, Kandana Liyanage Subhashinie Priyadarshika Kapilani Menike, Chandrasiri, Nambage Dona Priyani Dhammika, Indika, Neluwa Liyanage Ruwan, Ratnayake, Pyara Dilani, Gunasekara, Vindya Nandani, Fairbanks, Lynette Dianne, Stiburkova, Blanka
Được phát hành 2017Text -
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A homozygous deletion in the SLC19A1 gene as a cause of folate-dependent recurrent megaloblastic anemia Bằng Svaton, Michael, Skvarova Kramarzova, Karolina, Kanderova, Veronika, Mancikova, Andrea, Smisek, Petr, Jesina, Pavel, Krijt, Jakub, Stiburkova, Blanka, Dobrovolny, Robert, Sokolova, Jitka, Bakardjieva-Mihaylova, Violeta, Vodickova, Elena, Rackova, Marketa, Stuchly, Jan, Kalina, Tomas, Stary, Jan, Trka, Jan, Fronkova, Eva, Kozich, Viktor
Được phát hành 2020Text -
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Multiple common and rare variants of ABCG2 cause gout Bằng 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
Được phát hành 2017Text -
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GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes Bằng Nakayama, Akiyoshi, Nakaoka, Hirofumi, Yamamoto, Ken, Sakiyama, Masayuki, Shaukat, Amara, Toyoda, Yu, Okada, Yukinori, Kamatani, Yoichiro, Nakamura, Takahiro, Takada, Tappei, Inoue, Katsuhisa, Yasujima, Tomoya, Yuasa, Hiroaki, Shirahama, Yuko, Nakashima, Hiroshi, Shimizu, Seiko, Higashino, Toshihide, Kawamura, Yusuke, Ogata, Hiraku, Kawaguchi, Makoto, Ohkawa, Yasuyuki, Danjoh, Inaho, Tokumasu, Atsumi, Ooyama, Keiko, Ito, Toshimitsu, Kondo, Takaaki, Wakai, Kenji, Stiburkova, Blanka, Pavelka, Karel, Stamp, Lisa K, Dalbeth, Nicola, Sakurai, Yutaka, Suzuki, Hiroshi, Hosoyamada, Makoto, Fujimori, Shin, Yokoo, Takashi, Hosoya, Tatsuo, Inoue, Ituro, Takahashi, Atsushi, Kubo, Michiaki, Ooyama, Hiroshi, Shimizu, Toru, Ichida, Kimiyoshi, Shinomiya, Nariyoshi, Merriman, Tony R, Matsuo, Hirotaka
Được phát hành 2017Text -
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Genome-wide association study revealed novel loci which aggravate asymptomatic hyperuricaemia into gout Bằng Kawamura, Yusuke, Nakaoka, Hirofumi, Nakayama, Akiyoshi, Okada, Yukinori, Yamamoto, Ken, Higashino, Toshihide, Sakiyama, Masayuki, Shimizu, Toru, Ooyama, Hiroshi, Ooyama, Keiko, Nagase, Mitsuo, Hidaka, Yuji, Shirahama, Yuko, Hosomichi, Kazuyoshi, Nishida, Yuichiro, Shimoshikiryo, Ippei, Hishida, Asahi, Katsuura-Kamano, Sakurako, Shimizu, Seiko, Kawaguchi, Makoto, Uemura, Hirokazu, Ibusuki, Rie, Hara, Megumi, Naito, Mariko, Takao, Mikiya, Nakajima, Mayuko, Iwasawa, Satoko, Nakashima, Hiroshi, Ohnaka, Keizo, Nakamura, Takahiro, Stiburkova, Blanka, Merriman, Tony R, Nakatochi, Masahiro, Ichihara, Sahoko, Yokota, Mitsuhiro, Takada, Tappei, Saitoh, Tatsuya, Kamatani, Yoichiro, Takahashi, Atsushi, Arisawa, Kokichi, Takezaki, Toshiro, Tanaka, Keitaro, Wakai, Kenji, Kubo, Michiaki, Hosoya, Tatsuo, Ichida, Kimiyoshi, Inoue, Ituro, Shinomiya, Nariyoshi, Matsuo, Hirotaka
Được phát hành 2019Text