IDIOPATHIC RENAL HYPOURICEMIA: IDENTIFICATION AND CHARACTERIZATION OF SLC22A12 MUTATIONS IN SPANISH PATIENTS

被引:0
|
作者
Claverie-Martin, Felix [1 ]
Stiburkova, Blanka [2 ,3 ,4 ]
Nakamura, Makiko [5 ]
Gonzalez-Acosta, Hilaria [1 ]
Mancikova, Andrea [6 ]
Trujillo-Suarez, Jorge [1 ]
Krylov, Vladimir [6 ]
机构
[1] Hosp Nuestra Senora de Candelaria, Unidad Invest, Santa Cruz De Tenerife, Spain
[2] Charles Univ Prague, Prague, Czech Republic
[3] Gen Univ Hosp Prague, Inst Inherited Metab Disorders, Prague, Czech Republic
[4] Charles Univ Prague, Inst Rheumatol, Prague, Czech Republic
[5] Tokyo Univ Pharm & Life Sci, Dept Pathophysiol, Tokyo, Japan
[6] Charles Univ Prague, Dept Cell Biol, Prague, Czech Republic
关键词
D O I
10.1093/ndt/gfv187.13
中图分类号
R3 [基础医学]; R4 [临床医学];
学科分类号
1001 ; 1002 ; 100602 ;
摘要
SP013
引用
收藏
页数:1
相关论文
共 50 条
  • [41] Functional cooperation of URAT1 (SLC22A12) and URATv1 (SLC2A9) in renal reabsorption of urate
    Nakanishi, Takeo
    Ohya, Kouhei
    Shimada, Sho
    Anzai, Naohiko
    Tamai, Ikumi
    NEPHROLOGY DIALYSIS TRANSPLANTATION, 2013, 28 (03) : 603 - 611
  • [42] Low Expression Levels of SLC22A12 Indicates a Poor Prognosis and Progresses Clear Cell Renal Cell Carcinoma
    Xu, Jiaju
    Liu, Yuenan
    Liu, Jingchong
    Shou, Yi
    Xiong, Zhiyong
    Xiong, Hairong
    Xu, Tianbo
    Wang, Qi
    Liu, Di
    Liang, Huageng
    Yang, Hongmei
    Yang, Xiong
    Zhang, Xiaoping
    FRONTIERS IN ONCOLOGY, 2021, 11
  • [43] Absence of the SLC22A12 gene mutation in Turkish population with primary gout disease
    Yakut, Sezin
    Cetin, Zafer
    Arman, Mehmet
    Akbas, Halide
    Manguoglu, Ayse E.
    Luleci, Guven
    RHEUMATOLOGY INTERNATIONAL, 2013, 33 (11) : 2921 - 2925
  • [44] Absence of the SLC22A12 gene mutation in Turkish population with primary gout disease
    Sezin Yakut
    Zafer Cetin
    Mehmet Arman
    Halide Akbas
    Ayse E. Manguoglu
    Guven Luleci
    Rheumatology International, 2013, 33 : 2921 - 2925
  • [45] Associations between the SLC22A12 gene and gout susceptibility: a meta-analysis
    Zou, Y.
    Du, J.
    Zhu, Y.
    Xie, X.
    Chen, J.
    Ling, G.
    CLINICAL AND EXPERIMENTAL RHEUMATOLOGY, 2018, 36 (03) : 442 - 447
  • [46] ASSOCIATION ANALYSIS OF URATE TRANSPORTERS SLC22A11 (OAT4) AND SLC22A12 (URAT1) WITH GOUT
    Flynn, T.
    Hollis-Moffatt, J.
    Merriman, M.
    Phipps-Green, A.
    Topless, R.
    Dalbeth, N.
    Gow, P.
    Harrison, A.
    Highton, J.
    Jones, P.
    Stamp, L.
    INTERNAL MEDICINE JOURNAL, 2012, 42 : 2 - 2
  • [47] Contribution of Rare Variants of the SLC22A12 Gene to the Missing Heritability of Serum Urate Levels
    Misawa, Kazuharu
    Hasegawa, Takanori
    Mishima, Eikan
    Jutabha, Promsuk
    Ouchi, Motoshi
    Kojima, Kaname
    Kawai, Yosuke
    Matsuo, Masafumi
    Anzai, Naohiko
    Nagasaki, Masao
    GENETICS, 2020, 214 (04) : 1079 - 1090
  • [48] Genetic Association Between SLC22A12 Variants and Susceptibility to Hyperuricemia: A Meta-Analysis
    Zheng, Qu
    Keliang, Wu
    Hongtao, Qiu
    Xiaosheng, Lin
    GENETIC TESTING AND MOLECULAR BIOMARKERS, 2022, 26 (02) : 81 - 95
  • [49] Idiopathic renal hypouricemia as a rare and easily misdiagnosed disease with mutation in SLC2A9 gene
    Shen, Hunjun
    Feng, Chunyue
    Mao, Jianhua
    Jin, Xia
    Fu, Haidong
    Wang, Xia
    Liu, Ai Min
    Du, Lizhong
    Shu, Qiang
    Gu, Weizhong
    PEDIATRIC NEPHROLOGY, 2013, 28 (08) : 1359 - 1359
  • [50] Polymorphisms of ABCG2 and SLC22A12 Genes Associated with Gout Risk in Vietnamese Population
    Nguyen Thuy Duong
    Nguyen Thy Ngoc
    Nguyen Tran Minh Thang
    Bach Thi Hoai Phuong
    Nguyen Thanh Nga
    Nguyen Doan Tinh
    Do Hai Quynh
    Nguyen Dang Ton
    Nong Van Hai
    MEDICINA-LITHUANIA, 2019, 55 (01):