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16 in total

1. High frequency of SLC22A12 variants causing renal hypouricemia 1 in the Czech and Slovak Roma population; simple and rapid detection method by allele-specific polymerase chain reaction.

Authors: Dana Gabrikova; Jarmila Bernasovska; Jitka Sokolova; Blanka Stiburkova
Journal: Urolithiasis Date: 2015-06-02 Impact factor: 3.436

2. Diagnostic tests for primary renal hypouricemia.

Authors: Ivan Sebesta; Blanka Stiburkova; Josef Bartl; Kimiyoshi Ichida; Makoto Hosoyamada; Judy Taylor; Anthony Marinaki
Journal: Nucleosides Nucleotides Nucleic Acids Date: 2011-12 Impact factor: 1.381

3. Depletion of Uric Acid Due to SLC22A12 (URAT1) Loss-of-Function Mutation Causes Endothelial Dysfunction in Hypouricemia.

Authors: Shinobu Sugihara; Ichiro Hisatome; Masanari Kuwabara; Koichiro Niwa; Nani Maharani; Masahiko Kato; Kazuhide Ogino; Toshihiro Hamada; Haruaki Ninomiya; Yukihito Higashi; Kimiyoshi Ichida; Kazuhiro Yamamoto
Journal: Circ J Date: 2015-02-23 Impact factor: 2.993

4. Molecular identification of a renal urate anion exchanger that regulates blood urate levels.

Authors: Atsushi Enomoto; Hiroaki Kimura; Arthit Chairoungdua; Yasuhiro Shigeta; Promsuk Jutabha; Seok Ho Cha; Makoto Hosoyamada; Michio Takeda; Takashi Sekine; Takashi Igarashi; Hirotaka Matsuo; Yuichi Kikuchi; Takashi Oda; Kimiyoshi Ichida; Tatsuo Hosoya; Kaoru Shimokata; Toshimitsu Niwa; Yoshikatsu Kanai; Hitoshi Endou
Journal: Nature Date: 2002-04-14 Impact factor: 49.962

5. Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis.

Authors: Blanka Stiburkova; Ivan Sebesta; Kimiyoshi Ichida; Makiko Nakamura; Helena Hulkova; Vladimir Krylov; Lenka Kryspinova; Helena Jahnova
Journal: Eur J Hum Genet Date: 2013-02-06 Impact factor: 4.246

6. A high prevalence of renal hypouricemia caused by inactive SLC22A12 in Japanese.

Authors: Naoharu Iwai; Yukari Mino; Makoto Hosoyamada; Naomi Tago; Yoshihiro Kokubo; Hitoshi Endou
Journal: Kidney Int Date: 2004-09 Impact factor: 10.612

7. Functional analysis of novel allelic variants in URAT1 and GLUT9 causing renal hypouricemia type 1 and 2.

Authors: Andrea Mancikova; Vladimir Krylov; Olha Hurba; Ivan Sebesta; Makiko Nakamura; Kimiyoshi Ichida; Blanka Stiburkova
Journal: Clin Exp Nephrol Date: 2015-10-24 Impact factor: 2.801

Review 8. Xanthine oxidoreductase and cardiovascular disease: molecular mechanisms and pathophysiological implications.

Authors: Cristine E Berry; Joshua M Hare
Journal: J Physiol Date: 2003-12-23 Impact factor: 5.182

9. SLC2A9 influences uric acid concentrations with pronounced sex-specific effects.

Authors: Angela Döring; Christian Gieger; Divya Mehta; Henning Gohlke; Holger Prokisch; Stefan Coassin; Guido Fischer; Kathleen Henke; Norman Klopp; Florian Kronenberg; Bernhard Paulweber; Arne Pfeufer; Dieter Rosskopf; Henry Völzke; Thomas Illig; Thomas Meitinger; H-Erich Wichmann; Christa Meisinger
Journal: Nat Genet Date: 2008-03-09 Impact factor: 38.330

10. Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia.

Authors: Hirotaka Matsuo; Toshinori Chiba; Shushi Nagamori; Akiyoshi Nakayama; Hideharu Domoto; Kanokporn Phetdee; Pattama Wiriyasermkul; Yuichi Kikuchi; Takashi Oda; Junichiro Nishiyama; Takahiro Nakamura; Yuji Morimoto; Keiko Kamakura; Yutaka Sakurai; Shigeaki Nonoyama; Yoshikatsu Kanai; Nariyoshi Shinomiya
Journal: Am J Hum Genet Date: 2008-11-20 Impact factor: 11.025