PKD2 recurrent haplotype in ADPKD patients

被引：0
|
作者：
Corradi, Valentina [1 ,2 ]
Caprara, Carlotta [1 ,2 ]
Rigato, Matteo [1 ]
Mancini, Barbara [3 ]
Marzano, Nenzi [2 ]
Giuliani, Anna [1 ]
Perbellini, Omar [3 ]
Gastaldon, Fiorella [1 ]
Ronco, Claudio [2 ]
Zanella, Monica [1 ,2 ]
机构：
[1] AULSS 8 Ber Osped San Bortolo, UOC Nephrol, Vicenza, Italy
[2] Int Renal Res Inst Vicenza IRRIV Fdn, Vicenza, Italy
[3] AULSS 8 Ber Osped San Bortolo, UOSD Genet & Genom Diag, Vicenza, Italy
来源：
NEPHROLOGY DIALYSIS TRANSPLANTATION | 2024年 / 39卷
关键词：
D O I：
10.1093/ndt/gfae069.1194
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：
2498
引用
收藏
页数：1
相关论文
共 50 条
  • [31] PKD2 deficiency suppresses amino acid biosynthesis in ADPKD by impairing the PERK-TBL2-eIF2a-ATF4 pathway
    Zhou, Xingquan
    Xiong, Hui
    Lu, Yi
    Geng, Meijuan
    Lu, Yumei
    Zhang, Lirong
    Zhu, Xu
    BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2021, 561 : 73 - 79
  • [32] Regulation of mesangial cell function by PKD2
    Du, J
    Sours, S
    Ding, M
    Ma, R
    FASEB JOURNAL, 2006, 20 (04): : A339 - A340
  • [33] Novel PKD1 and PKD2 mutations in Taiwanese patients with autosomal dominant polycystic kidney disease
    Ming-Yang Chang
    Hsiao-Mang Chen
    Chang-Chyi Jenq
    Shen-Yang Lee
    Yu-Ming Chen
    Ya-Chung Tian
    Yung-Chang Chen
    Cheng-Chieh Hung
    Ji-Tseng Fang
    Chih-Wei Yang
    Yah-Huei Wu-Chou
    Journal of Human Genetics, 2013, 58 : 720 - 727
  • [34] Polycystic kidney disease-beyond PKD1 and PKD2
    de Faria, Vitoria Paes
    Dias, Joana Pereira
    Bessa, Maria Beatriz
    Martingo, Maria Alexandra
    Lopes, Daniela
    Almeida, Clara
    Gomes, Ana Marta
    NEPHROLOGY DIALYSIS TRANSPLANTATION, 2024, 39 : I394 - I394
  • [35] Polycystic kidney disease-beyond PKD1 and PKD2
    de Faria, Vitoria Paes
    Dias, Joana Pereira
    Bessa, Maria Beatriz
    Martingo, Maria Alexandra
    Lopes, Daniela
    Almeida, Clara
    Gomes, Ana Marta
    NEPHROLOGY DIALYSIS TRANSPLANTATION, 2024, 39
  • [36] Novel PKD1 and PKD2 mutations in Taiwanese patients with autosomal dominant polycystic kidney disease
    Chang, Ming-Yang
    Chen, Hsiao-Mang
    Jenq, Chang-Chyi
    Lee, Shen-Yang
    Chen, Yu-Ming
    Tian, Ya-Chung
    Chen, Yung-Chang
    Hung, Cheng-Chieh
    Fang, Ji-Tseng
    Yang, Chih-Wei
    Wu-Chou, Yah-Huei
    JOURNAL OF HUMAN GENETICS, 2013, 58 (11) : 720 - 727
  • [37] Autosomal dominant polycystic kidney disease (ADPKD, MIM 173900, PKD1 and PKD2 genes, protein products known as polycystin-1 and polycystin-2)
    Boucher, C
    Sandford, R
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2004, 12 (05) : 347 - 354
  • [38] Autosomal dominant polycystic kidney disease (ADPKD, MIM 173900, PKD1 and PKD2 genes, protein products known as polycystin-1 and polycystin-2)
    Catherine Boucher
    Richard Sandford
    European Journal of Human Genetics, 2004, 12 : 347 - 354
  • [39] Mouse Pkd2, chromosomal localization and expression.
    Babakhanlou, H
    Lu, W
    Geng, L
    Pavlova, A
    Beier, D
    Zhou, J
    JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 1997, 8 : A1707 - A1707
  • [40] Overexpression of PKD2 in the mouse is associated with renal tubulopathy
    Burtey, Stephane
    Riera, Marta
    Ribe, Emilie
    Pennekamp, Petra
    Passage, Edith
    Rance, Roselyne
    Dworniczak, Bernd
    Fontes, Michel
    NEPHROLOGY DIALYSIS TRANSPLANTATION, 2008, 23 (04) : 1157 - 1165
12345