Publications:

---

Pathogenic Variants of SLC22A12 (URAT1) and SLC2A9 (GLUT9) in Spanish Patients with Renal Hypouricemia: Founder Effect of SLC2A9 Variant c.374C>T; p.(T125M).

International Journal Of Molecular Sciences

Perdomo-Ramirez, Ana A; Cordoba-Lanus, Elizabeth E; Trujillo-Frias, Carmen Jane CJ; Gonzalez-Navasa, Carolina C; Ramos-Trujillo, Elena E; Luis-Yanes, Maria Isabel MI; Garcia-Nieto, Victor V; Claverie-Martin, Felix F; ,

Publication Date: 2023-05-08

Variant appearance in text: SLC2A9: R380W

PubMed Link: 37176161

Variant Present in the following documents:

• Main text
• ijms-24-08455.pdf

View BVdb publication page

---

Hypouricemia and Urate Transporters.

Biomedicines

Otani, Naoyuki N; Ouchi, Motoshi M; Misawa, Kazuharu K; Hisatome, Ichiro I; Anzai, Naohiko N

Publication Date: 2022-03-11

Variant appearance in text: SLC2A9: R380W

PubMed Link: 35327453

Variant Present in the following documents:

• Main text
• biomedicines-10-00652.pdf

View BVdb publication page

---

Characterization of a Compound Heterozygous SLC2A9 Mutation That Causes Hypouricemia.

Biomedicines

Yoon, Jaeho J; Cachau, Raul R; David, Victor A VA; Thompson, Mary M; Jung, Wooram W; Jee, Sun-Ha SH; Daar, Ira O IO; Winkler, Cheryl A CA; Cho, Sung-Kweon SK

Publication Date: 2021-09-06

Variant appearance in text: SLC2A9: 1138C>T; Arg380Trp; rs121908321

PubMed Link: 34572357

Variant Present in the following documents:

• Main text
• biomedicines-09-01172.pdf

View BVdb publication page

---

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: SLC2A9: 1138C>T; Arg380Trp; rs121908321

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

---

The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: SLC2A9: 1138C>T; Arg380Trp; rs121908321

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14
• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 15

View BVdb publication page

---

Idiopathic renal hypouricemia: A case report and literature review.

Molecular Medicine Reports

Wang, Cuiyu C; Wang, Jin J; Liu, Song S; Liang, Xinhua X; Song, Yifan Y; Feng, Ling L; Zhong, Lanxin L; Guo, Xiaohua X

Publication Date: 2019-12

Variant appearance in text: SLC2A9: R380W

PubMed Link: 31638209

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Epigenetic modifiers DNMT3A and BCOR are recurrently mutated in CYLD cutaneous syndrome.

Nature Communications

Davies, Helen R HR; Hodgson, Kirsty K; Schwalbe, Edward E; Coxhead, Jonathan J; Sinclair, Naomi N; Zou, Xueqing X; Cockell, Simon S; Husain, Akhtar A; Nik-Zainal, Serena S; Rajan, Neil N

Publication Date: 2019-10-17

Variant appearance in text: SLC2A9: 1138C>T; R380W

PubMed Link: 31624251

Variant Present in the following documents:

• 41467_2019_12746_MOESM4_ESM.xlsx, sheet 4

View BVdb publication page

---

Clinical practice guideline for renal hypouricemia (1st edition).

Human Cell

Nakayama, Akiyoshi A; Matsuo, Hirotaka H; Ohtahara, Akira A; Ogino, Kazuhide K; Hakoda, Masayuki M; Hamada, Toshihiro T; Hosoyamada, Makoto M; Yamaguchi, Satoshi S; Hisatome, Ichiro I; Ichida, Kimiyoshi K; Shinomiya, Nariyoshi N

Publication Date: 2019-04

Variant appearance in text: SLC2A9: R380W; rs121908321

PubMed Link: 30783949

Variant Present in the following documents:

• 13577_2019_239_MOESM1_ESM.pdf

View BVdb publication page

---

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: SLC2A9: R380W; rs121908321

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

---

Large-scale whole-exome sequencing association studies identify rare functional variants influencing serum urate levels.

Nature Communications

Tin, Adrienne A; Li, Yong Y; Brody, Jennifer A JA; Nutile, Teresa T; Chu, Audrey Y AY; Huffman, Jennifer E JE; Yang, Qiong Q; Chen, Ming-Huei MH; Robinson-Cohen, Cassianne C; Macé, Aurélien A; Liu, Jun J; Demirkan, Ayşe A; Sorice, Rossella R; Sedaghat, Sanaz S; Swen, Melody M; Yu, Bing B; Ghasemi, Sahar S; Teumer, Alexanda A; Vollenweider, Peter P; Ciullo, Marina M; Li, Meng M; Uitterlinden, André G AG; Kraaij, Robert R; Amin, Najaf N; van Rooij, Jeroen J; Kutalik, Zoltán Z; Dehghan, Abbas A; McKnight, Barbara B; van Duijn, Cornelia M CM; Morrison, Alanna A; Psaty, Bruce M BM; Boerwinkle, Eric E; Fox, Caroline S CS; Woodward, Owen M OM; Köttgen, Anna A

Publication Date: 2018-10-12

Variant appearance in text: SLC2A9: R380W

PubMed Link: 30315176

Variant Present in the following documents:

• Main text
• 41467_2018_6620_MOESM16_ESM.xlsx, sheet 1

View BVdb publication page

---

Multiple Membrane Transporters and Some Immune Regulatory Genes are Major Genetic Factors to Gout.

The Open Rheumatology Journal

Zhu, Weifeng W; Deng, Yan Y; Zhou, Xiaodong X

Publication Date: 2018

Variant appearance in text: SLC2A9: R380W

PubMed Link: 30123371

Variant Present in the following documents:

• Main text
• TORJ-12-94.pdf

View BVdb publication page

---

Human Mutations in SLC2A9 (Glut9) Affect Transport Capacity for Urate.

Frontiers In Physiology

Ruiz, Anne A; Gautschi, Ivan I; Schild, Laurent L; Bonny, Olivier O

Publication Date: 2018

Variant appearance in text: Glut9: R380W; rs121908321

PubMed Link: 29967582

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Physiology of Hyperuricemia and Urate-Lowering Treatments.

Frontiers In Medicine

Benn, Caroline L CL; Dua, Pinky P; Gurrell, Rachel R; Loudon, Peter P; Pike, Andrew A; Storer, R Ian RI; Vangjeli, Ciara C

Publication Date: 2018

Variant appearance in text: SLC2A9: R380W

PubMed Link: 29904633

Variant Present in the following documents:

• fmed-05-00160.pdf

View BVdb publication page

---

The Single Nucleotide Polymorphism rs1014290 of the SLC2A9 Gene Is Associated with Uric Acid Metabolism in Parkinson's Disease.

Parkinson'S Disease

Miao, Jiangfang J; Liu, Jing J; Xiao, Li L; Zheng, Jiedi J; Liu, Chunfeng C; Zhu, Zufu Z; Li, Kai K; Luo, Weifeng W

Publication Date: 2017

Variant appearance in text: SLC2A9: R380W

PubMed Link: 29158942

Variant Present in the following documents:

• Main text
• PD2017-7184927.pdf

View BVdb publication page

---

Genome-wide association study of clinically defined gout identifies multiple risk loci and its association with clinical subtypes.

Annals Of The Rheumatic Diseases

Matsuo, Hirotaka H; Yamamoto, Ken K; Nakaoka, Hirofumi H; Nakayama, Akiyoshi A; Sakiyama, Masayuki M; Chiba, Toshinori T; Takahashi, Atsushi A; Nakamura, Takahiro T; Nakashima, Hiroshi H; Takada, Yuzo Y; Danjoh, Inaho I; Shimizu, Seiko S; Abe, Junko J; Kawamura, Yusuke Y; Terashige, Sho S; Ogata, Hiraku H; Tatsukawa, Seishiro S; Yin, Guang G; Okada, Rieko R; Morita, Emi E; Naito, Mariko M; Tokumasu, Atsumi A; Onoue, Hiroyuki H; Iwaya, Keiichi K; Ito, Toshimitsu T; Takada, Tappei T; Inoue, Katsuhisa K; Kato, Yukio Y; Nakamura, Yukio Y; Sakurai, Yutaka Y; Suzuki, Hiroshi H; Kanai, Yoshikatsu Y; Hosoya, Tatsuo T; Hamajima, Nobuyuki N; Inoue, Ituro I; Kubo, Michiaki M; Ichida, Kimiyoshi K; Ooyama, Hiroshi H; Shimizu, Toru T; Shinomiya, Nariyoshi N

Publication Date: 2016-04

Variant appearance in text: SLC2A9: Arg380Trp

PubMed Link: 25646370

Variant Present in the following documents:

• Main text
• annrheumdis-2014-206191.pdf

View BVdb publication page

---

Recurrent exercise-induced acute kidney injury by idiopathic renal hypouricemia with a novel mutation in the SLC2A9 gene and literature review.

Bmc Pediatrics

Shen, Huijun H; Feng, Chunyue C; Jin, Xia X; Mao, Jianhua J; Fu, Haidong H; Gu, Weizhong W; Liu, Ai'min A; Shu, Qiang Q; Du, Lizhong L

Publication Date: 2014-03-14

Variant appearance in text: SLC2A9: Arg380Trp

PubMed Link: 24628802

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9 compound heterozygosity.

Bmc Medical Genetics

Jeannin, Guido G; Chiarelli, Nicola N; Gaggiotti, Mario M; Ritelli, Marco M; Maiorca, Paolo P; Quinzani, Stefano S; Verzeletti, Federica F; Possenti, Stefano S; Colombi, Marina M; Cancarini, Giovanni G

Publication Date: 2014-01-07

Variant appearance in text: SLC2A9: 1138C>T; Arg380Trp

PubMed Link: 24397858

Variant Present in the following documents:

• Main text
• 1471-2350-15-3.pdf

View BVdb publication page

---

No association between MTHFR C677T and serum uric acid levels among Japanese with ABCG2 126QQ and SLC22A12 258WW.

Nagoya Journal Of Medical Science

Hinohara, Yukako Y; Naito, Mariko M; Okada, Rieko R; Yin, Guan G; Higashibata, Takahiro T; Tamura, Takashi T; Kawai, Sayo S; Morita, Emi E; Wakai, Kenji K; Matsuo, Hirotaka H; Mori, Atsuyoshi A; Hamajima, Nobuyuki N

Publication Date: 2013-02

Variant appearance in text: SLC2A9: R380W

PubMed Link: 23544272

Variant Present in the following documents:

• Main text
• 2186-3326-75-0093.pdf

View BVdb publication page

---

Clinical and functional characterization of URAT1 variants.

Plos One

Tasic, Velibor V; Hynes, Ann Marie AM; Kitamura, Kenichiro K; Cheong, Hae Il HI; Lozanovski, Vladimir J VJ; Gucev, Zoran Z; Jutabha, Promsuk P; Anzai, Naohiko N; Sayer, John A JA

Publication Date: 2011

Variant appearance in text: SLC2A9: R380W

PubMed Link: 22194875

Variant Present in the following documents:

• Main text
• pone.0028641.pdf

View BVdb publication page

---

Serum uric acid distribution according to SLC22A12 W258X genotype in a cross-sectional study of a general Japanese population.

Bmc Medical Genetics

Hamajima, Nobuyuki N; Naito, Mariko M; Hishida, Asahi A; Okada, Rieko R; Asai, Yatami Y; Wakai, Kenji K

Publication Date: 2011-03-02

Variant appearance in text: SLC2A9: R380W

PubMed Link: 21366895

Variant Present in the following documents:

• Main text
• 1471-2350-12-33.pdf

View BVdb publication page

---