GENETIC ANALYSIS IN DENT DISEASE AND FUNCTIONAL STUDIES OF CLCN5 MUTATIONS IN PATIENTS' KIDNEY BIOPSIES

被引：0
|
作者：
Ceol, Monica [1 ]
Gianesello, Lisa [1 ]
Priante, Giovanna [1 ]
Del Prete, Dorella [1 ]
Anglani, Franca [1 ]
机构：
[1] Univ Padua, Dept Med, Padua, Italy
来源：
NEPHROLOGY DIALYSIS TRANSPLANTATION | 2019年 / 34卷
关键词：
D O I：
暂无
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：
FO069
引用
收藏
页码：30 / 31
页数：2
相关论文
共 50 条
  • [1] Genetic Analyses in Dent Disease and Characterization of CLCN5 Mutations in Kidney Biopsies
    Gianesello, Lisa
    Ceol, Monica
    Bertoldi, Loris
    Terrin, Liliana
    Priante, Giovanna
    Murer, Luisa
    Peruzzi, Licia
    Giordano, Mario
    Paglialonga, Fabio
    Cantaluppi, Vincenzo
    Musetti, Claudio
    Valle, Giorgio
    Del Prete, Dorella
    Anglani, Franca
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2020, 21 (02)
  • [2] Functional analysis of CLCN5 mutations in patients with Dent's disease
    Grand, Teddy
    Teulon, Jacques
    Lourdel, Stephane
    FASEB JOURNAL, 2012, 26
  • [3] Genetic Analysis of Dent's Disease and Functional Research of CLCN5 Mutations
    Zhang, Ya
    Fang, Xiaoyan
    Xu, Hong
    Shen, Qian
    DNA AND CELL BIOLOGY, 2017, 36 (12) : 1151 - 1158
  • [4] Functional and Transport Analysis of CLCN5 Mutations Found in Dent Disease Patients
    Chang, MinHwang
    Brown, Matthew
    Tang, Xiaojing
    Lieske, John
    Romero, Michael
    FASEB JOURNAL, 2015, 29
  • [5] Clinical and genetic studies of CLCN5 mutations in Japanese families with Dent's disease
    Igarashi, T
    Inatomi, J
    Ohara, T
    Kuwahara, T
    Shimadzu, M
    Thakker, RV
    KIDNEY INTERNATIONAL, 2000, 58 (02) : 520 - 527
  • [6] Functional and transport analyses of CLCN5 genetic changes identified in Dent disease patients
    Tang, Xiaojing
    Brown, Matthew R.
    Cogal, Andrea G.
    Gauvin, Daniel
    Harris, Peter C.
    Lieske, John C.
    Romero, Michael F.
    Chang, Min-Hwang
    PHYSIOLOGICAL REPORTS, 2016, 4 (08):
  • [7] Nephrolithiasis, kidney failure and bone disorders in Dent disease patients with and without CLCN5 mutations
    Anglani, Franca
    D'Angelo, Angela
    Bertizzolo, Luisa Maria
    Tosetto, Enrica
    Ceol, Monica
    Cremasco, Daniela
    Bonfante, Luciana
    Addis, Maria Antonietta
    Del Prete, Dorella
    SPRINGERPLUS, 2015, 4
  • [8] Mutational analysis of CLCN5 and OCRL in patients with Dent disease
    Perdomo-Ramirez, A.
    Ramos-Trujillo, E.
    Suarez-Artiles, L.
    Pinero-Hernandez, J. A.
    Claverie-Martin, F.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 855 - 855
  • [9] Renal chloride channel, CLCN5, mutations in Dent's disease
    Cox, JPD
    Yamamoto, K
    Christie, PT
    Wooding, C
    Feest, T
    Flinter, FA
    Goodyer, PR
    Leumann, E
    Neuhaus, T
    Reid, C
    Williams, PF
    Wrong, O
    Thakker, RV
    JOURNAL OF BONE AND MINERAL RESEARCH, 1999, 14 (09) : 1536 - 1542
  • [10] Functional characterization of renal chloride channel, CLCN5, mutations associated with Dent'sJapan disease
    Igarashi, T
    Günther, W
    Sekine, T
    Inatomi, J
    Shiraga, H
    Takahashi, S
    Suzuki, J
    Tsuru, N
    Yanagihara, T
    Shimazu, M
    Jentsch, TJ
    Thakker, RV
    KIDNEY INTERNATIONAL, 1998, 54 (06) : 1850 - 1856
12345