ADPKD and collagen genes (COL4A3, COL4A4, COL4A5)

被引：0
|
作者：
Caprara, Carlotta [1 ]
Corradi, Valentina [1 ]
Rigato, Matteo [1 ]
Mancini, Barbara [2 ]
Marzano, Nenzi [3 ]
Perbellini, Omar [2 ]
Gastaldon, Fiorella [1 ]
Ronco, Claudio [3 ]
Zanella, Monica [1 ]
机构：
[1] San Bortolo Hosp, Nephrol Dep, Vicenza, Italy
[2] Genet & Genom Diagnost San Bortolo Hosp, UOSD, Vicenza, Italy
[3] IRRIV Fdn, Vicenza, Italy
来源：
NEPHROLOGY DIALYSIS TRANSPLANTATION | 2024年 / 39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：
2438
引用
收藏
页码：I1962 / I1962
页数：1
相关论文
共 50 条
  • [1] ADPKD and collagen genes (COL4A3, COL4A4, COL4A5)
    Caprara, Carlotta
    Corradi, Valentina
    Rigato, Matteo
    Mancini, Barbara
    Marzano, Nenzi
    Perbellini, Omar
    Gastaldon, Fiorella
    Ronco, Claudio
    Zanella, Monica
    NEPHROLOGY DIALYSIS TRANSPLANTATION, 2024, 39
  • [2] Novel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome
    Liu, Jian-Hong
    Wei, Xiu-Xiu
    Li, Ang
    Cui, Ying-Xia
    Xia, Xin-Yi
    Qin, Wei-Song
    Zhang, Ming-Chao
    Gao, Er-Zhi
    Sun, Jun
    Gao, Chun-Lin
    Liu, Feng-Xia
    Wu, Qiu-Yue
    Li, Wei-Wei
    Asan
    Liu, Zhi-Hong
    Li, Xiao-Jun
    PLOS ONE, 2017, 12 (05):
  • [3] Four novel mutations identified in the COL4A3, COL4A4 and COL4A5 genes in 10 families with Alport syndrome
    Wang, Duocai
    Pan, Meize
    Li, Hang
    Li, Minchun
    Li, Ping
    Xiong, Fu
    Xiao, Hongbo
    BMC MEDICAL GENOMICS, 2024, 17 (01)
  • [4] Trigenic COL4A3/COL4A4/COL4A5 Pathogenic Variants in Alport Syndrome: A Case Report
    Rao, Dipti
    Maas, Rutger J.
    Cornelissen, Elisabeth A.
    Wetzels, Jack F.
    van Geel, Michel
    JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2022, 33 (11): : 443 - 443
  • [5] Identification of 27 Novel Variants in Genes COL4A3, COL4A4, and COL4A5 in Lithuanian Families With Alport Syndrome
    Cerkauskaite, Agne
    Savige, Judy
    Janonyte, Karolina
    Jeremiciute, Ieva
    Miglinas, Marius
    Kazenaite, Edita
    Laurinavicius, Arvydas
    Strupaite-Sileikiene, Rasa
    Vainutiene, Vija
    Burnyte, Birute
    Jankauskiene, Augustina
    Rolfs, Arndt
    Bauer, Peter
    Schroeder, Sabine
    Cerkauskiene, Rimante
    FRONTIERS IN MEDICINE, 2022, 9
  • [6] Trigenic COL4A3/COL4A4/COL4A5 Pathogenic Variants in Alport Syndrome: A Case Report
    Rao, Dipti
    Maas, Rutger
    Cornelissen, Marlies
    Wetzels, Jack
    van Geel, Michel
    NEPHRON, 2024, 148 (10)
  • [7] Polymorphisms in COL4A3 and COL4A4 genes associated with keratoconus
    Stabuc-Silih, Mirna
    Ravnik-Glavac, Metka
    Glavac, Damjan
    Hawlina, Marko
    Strazisar, Mojca
    MOLECULAR VISION, 2009, 15 (300-01): : 2848 - 2859
  • [8] Alport综合征家系COL4A3、COL4A4、COL4A5基因突变分析
    何威
    李文成
    孙丽娟
    邱桂霞
    徐建峰
    马媛媛
    王伟光
    国际医药卫生导报, 2019, (23) : 3823 - 3826
  • [9] Insertional mutation of the collagen genes Col4a3 and Col4a4 in a mouse model of Alport syndrome
    Lu, W
    Phillips, CL
    Killen, PD
    Hlaing, T
    Harrison, WR
    Elder, FFB
    Miner, JH
    Overbeek, PA
    Meisler, MH
    GENOMICS, 1999, 61 (02) : 113 - 124
  • [10] Novel mutations of COL4A3, COL4A4, and COL4A5 genes in Chinese patients with Alport Syndrome using next generation sequence technique
    Zhao, Xuechao
    Chen, Chen
    Wei, Yanfu
    Zhao, Ganye
    Liu, Lina
    Wang, Conghui
    Zhang, Junjun
    Kong, Xiangdong
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2019, 7 (06):
12345