Literature DB >> 26428519

Novel dysfunctional variant in ABCG2 as a cause of severe tophaceous gout: biochemical, molecular genetics and functional analysis.

Blanka Stiburkova1, Hiroshi Miyata2, Jakub Závada3, Michal Tomčík3, Karel Pavelka3, Gabriela Storkanova4, Yu Toyoda2, Tappei Takada2, Hiroshi Suzuki2.   

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Year:  2015        PMID： 26428519     DOI： 10.1093/rheumatology/kev350

Source DB:  PubMed          Journal:  Rheumatology (Oxford)        ISSN： 1462-0324            Impact factor:   7.580


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  10 in total

1.  Identification of Febuxostat as a New Strong ABCG2 Inhibitor: Potential Applications and Risks in Clinical Situations.

Authors:  Hiroshi Miyata; Tappei Takada; Yu Toyoda; Hirotaka Matsuo; Kimiyoshi Ichida; Hiroshi Suzuki
Journal:  Front Pharmacol       Date:  2016-12-27       Impact factor: 5.810

2.  Multiple common and rare variants of ABCG2 cause gout.

Authors:  Toshihide Higashino; Tappei Takada; Hirofumi Nakaoka; Yu Toyoda; Blanka Stiburkova; Hiroshi Miyata; Yuki Ikebuchi; Hiroshi Nakashima; Seiko Shimizu; Makoto Kawaguchi; Masayuki Sakiyama; Akiyoshi Nakayama; Airi 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
Journal:  RMD Open       Date:  2017-08-29

3.  Lumbar spinal stenosis attributable to tophaceous gout: case report and review of the literature.

Authors:  Wei Wang; Qingbo Li; Lei Cai; Weijun Liu
Journal:  Ther Clin Risk Manag       Date:  2017-09-28       Impact factor: 2.423

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

Authors:  Yu Toyoda; Andrea Mančíková; Vladimír Krylov; Keito Morimoto; Kateřina Pavelcová; Jana Bohatá; Karel Pavelka; Markéta Pavlíková; Hiroshi Suzuki; Hirotaka Matsuo; Tappei Takada; Blanka Stiburkova
Journal:  Cells       Date:  2019-04-18       Impact factor: 6.600

5.  Cellular expression and function of naturally occurring variants of the human ABCG2 multidrug transporter.

Authors:  Boglárka Zámbó; Orsolya Mózner; Zsuzsa Bartos; György Török; György Várady; Ágnes Telbisz; László Homolya; Tamás I Orbán; Balázs Sarkadi
Journal:  Cell Mol Life Sci       Date:  2019-06-28       Impact factor: 9.261

6.  Identification of Two Dysfunctional Variants in the ABCG2 Urate Transporter Associated with Pediatric-Onset of Familial Hyperuricemia and Early-Onset Gout.

Authors:  Yu Toyoda; Kateřina Pavelcová; Jana Bohatá; Pavel Ješina; Yu Kubota; Hiroshi Suzuki; Tappei Takada; Blanka Stiburkova
Journal:  Int J Mol Sci       Date:  2021-02-16       Impact factor: 5.923

7.  Regulation of the Axillary Osmidrosis-Associated ABCC11 Protein Stability by N-Linked Glycosylation: Effect of Glucose Condition.

Authors:  Yu Toyoda; Tappei Takada; Hiroshi Miyata; Toshihisa Ishikawa; Hiroshi Suzuki
Journal:  PLoS One       Date:  2016-06-09       Impact factor: 3.240

Review 8.  The genetics of gout: towards personalised medicine?

Authors:  Nicola Dalbeth; Lisa K Stamp; Tony R Merriman
Journal:  BMC Med       Date:  2017-05-31       Impact factor: 8.775

9.  Disseminated Cutaneous Tophi in a Patient with Chronic Tophaceous Gout and Renal Impairment: A Case Report of a Rare Manifestation of Gout.

Authors:  Faisal Parlindungan; Bambang Setiyohadi; Riesye Arisanti
Journal:  Am J Case Rep       Date:  2020-04-03

10.  Substantial anti-gout effect conferred by common and rare dysfunctional variants of URAT1/SLC22A12.

Authors:  Yu Toyoda; Yusuke Kawamura; Akiyoshi Nakayama; Hirofumi Nakaoka; Toshihide Higashino; Seiko Shimizu; Hiroshi Ooyama; Keito Morimoto; Naohiro Uchida; Ryuichiro Shigesawa; Kenji Takeuchi; Ituro Inoue; Kimiyoshi Ichida; Hiroshi Suzuki; Nariyoshi Shinomiya; Tappei Takada; Hirotaka Matsuo
Journal:  Rheumatology (Oxford)       Date:  2021-11-03       Impact factor: 7.580
  10 in total

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