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Depletion of Uric Acid Due to SLC22A12 (URAT1) Loss-of-Function Mutation Causes Endothelial Dysfunction in Hypouricemia
Sugihara, Shinobu, Hisatome, Ichiro, Kuwabara, Masanari, Niwa, Koichiro, Maharani, Nani, Kato, Masahiko, Ogino, Kazuhide, Hamada, Toshihiro, Ninomiya, Haruaki, Higashi, Yukihito, Ichida, Kimiyoshi, Yamamoto, Kazuhiro
Published in Circulation Journal (2015)
Published in Circulation Journal (2015)
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Contribution of SLC22A12 on hypouricemia and its clinical significance for screening purposes
Cha, Do Hyeon, Gee, Heon Yung, Cachau, Raul, Choi, Jong Mun, Park, Daeui, Jee, Sun Ha, Ryu, Seungho, Kim, Kyeong Kyu, Won, Hong-Hee, Limou, Sophie, Myung, Woojae, Winkler, Cheryl A., Cho, Sung Kweon
Published in Scientific reports (07.10.2019)
Published in Scientific reports (07.10.2019)
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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
Gabrikova, Dana, Bernasovska, Jarmila, Sokolova, Jitka, Stiburkova, Blanka
Published in Urolithiasis (01.10.2015)
Published in Urolithiasis (01.10.2015)
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Two novel homozygous SLC2A9 mutations cause renal hypouricemia type 2
Dinour, D., Gray, N. K., Ganon, L., Knox, A. J. S., Shalev, H., Sela, B.-A., Campbell, S., Sawyer, L., Shu, X., Valsamidou, E., Landau, D., Wright, A. F., Holtzman, E. J.
Published in Nephrology, dialysis, transplantation (01.03.2012)
Published in Nephrology, dialysis, transplantation (01.03.2012)
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Amplicon targeted resequencing for SLC2A9 and SLC22A12 identified novel mutations in hypouricemia subjects
Zhou, Zhaowei, Wang, Ke, Zhou, Juan, Wang, Can, Li, Xinde, Cui, Lingling, Han, Lin, Liu, Zhen, Ren, Wei, Wang, Xuefeng, Zhang, Keke, Li, Zhiqiang, Pan, Dun, Li, Changgui, Shi, Yongyong
Published in Molecular genetics & genomic medicine (01.07.2019)
Published in Molecular genetics & genomic medicine (01.07.2019)
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Novel URAT1 mutations caused acute renal failure after exercise in two Chinese families with renal hypouricemia
Li, Zongzhe, Ding, Hu, Chen, Chen, Chen, Yan, Wang, Dao Wen, Lv, Yongman
Published in Gene (01.01.2013)
Published in Gene (01.01.2013)
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Vitamin D Receptor Gene Alw I, Fok I, Apa I, and Taq I Polymorphisms in Patients With Urinary Stone
Seo, Ill Young, Kang, In-Hong, Chae, Soo-Cheon, Park, Seung Chol, Lee, Young-Jin, Yang, Yun Sik, Ryu, Soo Bang, Rim, Joung Sik
Published in Urology (Ridgewood, N.J.) (01.04.2010)
Published in Urology (Ridgewood, N.J.) (01.04.2010)
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Genetic heritability of urinary stone risk in identical twins
Monga, Manoj, Macias, Brandon, Groppo, Eli, Hargens, Alan
Published in The Journal of urology (01.06.2006)
Published in The Journal of urology (01.06.2006)
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A polymorphism of the osteopontin gene is related to urinary calcium stones
Gao, Bing, Yasui, Takahiro, Okada, Atsushi, Tozawa, Keiichi, Hayashi, Yutaro, Kohri, Kenjiro
Published in The Journal of urology (01.10.2005)
Published in The Journal of urology (01.10.2005)
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Association of the vitamin D receptor gene start codon Fok I polymorphism with calcium oxalate stone disease
Chen, W.‐C., Chen, H.‐Y., Lu, H.‐F., Hsu, C.‐D., Tsai, F.‐J.
Published in BJU international (01.02.2001)
Published in BJU international (01.02.2001)
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The association of androgen‐ and oestrogen‐receptor gene polymorphisms with urolithiasis in men
Chen, W.‐C., Wu, H.‐C., Lin, W.‐C., Wu, M.‐C., Hsu, C.‐D., Tsai, F.‐J.
Published in BJU international (01.09.2001)
Published in BJU international (01.09.2001)
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Familial calcium stone disease: TaqI polymorphism and the vitamin D receptor
Jackman, S V, Kibel, A S, Ovuworie, C A, Moore, R G, Kavoussi, L R, Jarrett, T W
Published in Journal of endourology (01.05.1999)
Published in Journal of endourology (01.05.1999)
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Genes in idiopathic calcium oxalate stone disease
Goodman, Harold O., Brommage, Robert, Assimos, Dean G., Holmes, Ross P.
Published in World journal of urology (01.06.1997)
Published in World journal of urology (01.06.1997)
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Analysis of osteopontin DNA in patients with urolithiasis
Yamate, T., Tsuji, H., Amasaki, N., Iguchi, M., Kurita, T., Kohri, K.
Published in Urolithiasis (01.06.2000)
Published in Urolithiasis (01.06.2000)
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Osteocalcin gene Hind III polymorphism is not correlated with calcium oxalate stone disease
Chen, Wen-Chi, Chen, Huey-Yi, Wu, Jer-Yuarn, Chen, Yng-Tay, Tsai, Fuu-Jen
Published in Urolithiasis (01.04.2001)
Published in Urolithiasis (01.04.2001)
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