Autosomal dominant polycystic kidney disease: identification of two polymorphisms

被引：1
作者：
Sahnoun, Safa [1 ]
Barbouch, Samia [2 ]
Fredj, Sondess Hadj [1 ]
Khedher, Adel [2 ]
Messaoud, Taieb [1 ]
机构：
[1] Hop Enfant, Lab Biochim & Biol Mol, Tunis, Tunisia
[2] Serv Nephrol & Med A, Tunis, Tunisia
来源：
ANNALES DE BIOLOGIE CLINIQUE | 2015年 / 73卷 / 02期
关键词：
polycystic kidney disease; Tunisian ADPKD patient; polymorphisms; PKD1; GENE; MUTATION; PROTEIN; CELLS;
D O I：
10.1684/abc.2015.1036
中图分类号：
R446 [实验室诊断]; R-33 [实验医学、医学实验];
学科分类号：
1001 ;
摘要：
The identification of polymorphism A4059V associated with the 12276 A>G at exon 45 of the PKD1 gene in a Tunisian polycystic patient.
引用
收藏
页码：181 / 183
页数：3
相关论文
共 50 条
  • [31] Rat models of autosomal dominant polycystic kidney disease
    Gretz, N
    Kranzlin, B
    Pey, R
    Schieren, G
    Bach, J
    Obermuller, N
    Ceccherini, I
    Kloting, I
    Rohmeiss, P
    Bachmann, S
    Hafner, M
    NEPHROLOGY DIALYSIS TRANSPLANTATION, 1996, 11 : 46 - 51
  • [32] Vascular complications in autosomal dominant polycystic kidney disease
    Perrone, Ronald D.
    Malek, Adel M.
    Watnick, Terry
    NATURE REVIEWS NEPHROLOGY, 2015, 11 (10) : 589 - 598
  • [33] Spleen phenotype in autosomal dominant polycystic kidney disease
    Yin, X.
    Prince, W. K.
    Blumenfeld, J. D.
    Zhang, W.
    Donahue, S.
    Bobb, W. O.
    Rennert, H.
    Askin, G.
    Barash, I
    Prince, M. R.
    CLINICAL RADIOLOGY, 2019, 74 (12) : 975.e17 - 975.e24
  • [34] Molecular basis of autosomal dominant polycystic kidney disease
    Al-Bhalal, L
    Akhtar, M
    ADVANCES IN ANATOMIC PATHOLOGY, 2005, 12 (03) : 126 - 133
  • [35] Mineral bone disease in autosomal dominant polycystic kidney disease
    Gitomer, Berenice
    Pereira, Renata
    Salusky, Isidro B.
    Stoneback, Jason W.
    Isakova, Tamara
    Cai, Xuan
    Dalrymple, Lorien S.
    Ofsthun, Norma
    You, Zhiying
    Malluche, Harmut H.
    Maddux, Franklin
    George, Diana
    Torres, Vicente
    Chapman, Arlene
    Steinman, Theodore I.
    Wolf, Myles
    Chonchol, Michel
    KIDNEY INTERNATIONAL, 2021, 99 (04) : 977 - 985
  • [36] Targeted Therapies for Autosomal Dominant Polycystic Kidney Disease
    Stayner, Cherie
    Brooke, Darby G.
    Bates, Michael
    Eccles, Michael R.
    CURRENT MEDICINAL CHEMISTRY, 2019, 26 (17) : 3081 - 3102
  • [37] Soluble Klotho and Autosomal Dominant Polycystic Kidney Disease
    Pavik, Ivana
    Jaeger, Philippe
    Ebner, Lena
    Poster, Diane
    Krauer, Fabienne
    Kistler, Andreas D.
    Rentsch, Katharina
    Andreisek, Gustav
    Wagner, Carsten A.
    Devuyst, Olivier
    Wuethrich, Rudolf P.
    Schmid, Christoph
    Serra, Andreas L.
    CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2012, 7 (02): : 248 - 257
  • [38] A new diet for autosomal dominant polycystic kidney disease
    Taylor, Jacob
    Hamilton-Reeves, Jill
    Sullivan, Debra
    Ptomey, Lauren
    Gibson, Cheryl
    Wesson, Donald
    Gratham, Jared
    FASEB JOURNAL, 2014, 28 (01)
  • [39] Predictors of progression in autosomal dominant and autosomal recessive polycystic kidney disease
    Benz, Eric G.
    Hartung, Erum A.
    PEDIATRIC NEPHROLOGY, 2021, 36 (09) : 2639 - 2658
  • [40] Hereditary cystic kidney diseases: autosomal dominant and autosomal recessive polycystic kidney disease (ADPKD and ARPKD)
    Haumann, Sophie
    Burgmaier, Kathrin
    Bergmann, Carsten
    Mueller, Roman Ulrich
    Liebau, Max C.
    MEDIZINISCHE GENETIK, 2018, 30 (04): : 422 - 428
12345