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
  • [41] Locus heterogeneity of Dent’s disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations
    Enrica Tosetto
    Maria Addis
    Gianluca Caridi
    Cristiana Meloni
    Francesco Emma
    Gianluca Vergine
    Gilda Stringini
    Teresa Papalia
    Giancarlo Barbano
    Gian Marco Ghiggeri
    Laura Ruggeri
    Nunzia Miglietti
    Angela D′Angelo
    Maria Antonietta Melis
    Franca Anglani
    Pediatric Nephrology, 2009, 24 : 1967 - 1973
  • [42] Locus heterogeneity of Dent's disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations
    Tosetto, Enrica
    Addis, Maria
    Caridi, Gianluca
    Meloni, Cristiana
    Emma, Francesco
    Vergine, Gianluca
    Stringini, Gilda
    Papalia, Teresa
    Barbano, Giancarlo
    Ghiggeri, Gian Marco
    Ruggeri, Laura
    Miglietti, Nunzia
    D'Angelo, Angela
    Melis, Maria Antonietta
    Anglani, Franca
    PEDIATRIC NEPHROLOGY, 2009, 24 (10) : 1967 - 1973
  • [43] An atypical Dent's disease phenotype caused by co-inheritance of mutations at CLCN5 and OCRL genes
    Addis, Maria
    Meloni, Cristiana
    Tosetto, Enrica
    Ceol, Monica
    Cristofaro, Rosalba
    Melis, Maria Antonietta
    Vercelloni, Paolo
    Del Prete, Dorella
    Marra, Giuseppina
    Anglani, Franca
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2013, 21 (06) : 687 - 690
  • [44] An atypical Dent’s disease phenotype caused by co-inheritance of mutations at CLCN5 and OCRL genes
    Maria Addis
    Cristiana Meloni
    Enrica Tosetto
    Monica Ceol
    Rosalba Cristofaro
    Maria Antonietta Melis
    Paolo Vercelloni
    Dorella Del Prete
    Giuseppina Marra
    Franca Anglani
    European Journal of Human Genetics, 2013, 21 : 687 - 690
  • [45] Clinical features and genetic analysis of nine Chinese children with Dent disease and identification of three novel CLCN5 and OCRL variants
    Jiang, Xinyi
    Lin, Hongzhou
    Zhu, Qifan
    Chen, Huihui
    Huang, Yutong
    Huang, Xiu-Feng
    Wang, Dexuan
    RENAL FAILURE, 2025, 47 (01)
  • [46] Functional analysis of suspected splicing variants in CLCN5 gene in Dent disease 1 (vol 24, pg 606, 2020)
    Inoue, Tomohiko
    Nagano, China
    Matsuo, Masafumi
    Yamamura, Tomohiko
    Sakakibara, Nana
    Horinouchi, Tomoko
    Shibagaki, Yugo
    Ichikawa, Daisuke
    Aoto, Yuya
    Ishiko, Shinya
    Ishimori, Shingo
    Rossanti, Rini
    Iijima, Kazumoto
    Nozu, Kandai
    CLINICAL AND EXPERIMENTAL NEPHROLOGY, 2021, 25 (05) : 564 - 564
  • [47] LRP2 VARIANTS IN DENT DISEASE PATIENTS WITH NO DETECTABLE MUTATION IN CLCN5 AND OCRL GENES
    Terrin, Liliana
    Bertoldi, Loris
    Ceol, Monica
    Gianesello, Lisa
    Priante, Giovanna
    Del Prete, Dorella
    Valle, Giorgio
    Anglani, Franca
    NEPHROLOGY DIALYSIS TRANSPLANTATION, 2017, 32 : 75 - +
  • [48] Renal Expression of CLC-5 and Megalin/Cubilin in Dent-1 Disease With Nonsense Mutations of CLCN5 Gene
    Zhai, Panpan
    Lv, Weigang
    Yang, Xiaoqing
    Huang, Yanjie
    Zhai, Wensheng
    Ren, Xianqing
    Zhang, Xia
    Yang, Meng
    Zhang, Jian
    Guo, Ting
    Bai, Minghui
    Yang, Yueli
    Ding, Ying
    Huang, Yanshi
    PEDIATRIC AND DEVELOPMENTAL PATHOLOGY, 2022, 25 (04) : 397 - 403
  • [49] Atypical cases of Dent's disease presenting as asymtomatic proteinuria and focal glomerulosclerosis and identification of new CLCN5 mutations
    Ramos-Trujillo, E.
    Gonzalez-Acosta, H.
    Fons, J.
    Ariceta, G.
    Valenciano, B.
    Garcia-Ramirez, M.
    Muley-Alonso, R. L.
    Vara, J.
    Garcia-Nieto, V.
    Claverie-Martin, F.
    PEDIATRIC NEPHROLOGY, 2011, 26 (09) : 1639 - 1639
  • [50] Dent disease 1-linked novel CLCN5 mutations result in aberrant location and reduced ion currents
    Wang, Yan
    Xu, Lizhen
    Zhang, Ying
    Fu, Haidong
    Gao, Langping
    Guan, Yuelin
    Gu, Weizhong
    Sun, Jingmiao
    Chen, Xiangjun
    Yang, Fan
    Lai, EnYin
    Wang, Jingjing
    Jin, Yanyan
    Kou, Ziqi
    Qiu, Xingyu
    Mao, Jianhua
    Hu, Lidan
    INTERNATIONAL JOURNAL OF BIOLOGICAL MACROMOLECULES, 2024, 257
12345