Functional Analysis of NPHS1 Gene Mutations with Japanese Patients Suffering from Congenital Nephrotic Syndrome (CNS)

被引:0
|
作者
Miyai, T. [1 ]
Aya, K. [1 ]
Takaiwa, M. [1 ]
Yan, K. [2 ]
Sado, Y. [3 ]
Tanaka, H. [4 ]
Morishima, T. [1 ]
机构
[1] Okayama Univ, Sch Med, Okayama 700, Japan
[2] Kyorin Univ, Sch Med, Mitaka, Tokyo 181, Japan
[3] Shigei Med Res Inst, Okayama, Japan
[4] Okayama Saiseikai Gen Hosp, Okayama, Japan
关键词
D O I
暂无
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
613
引用
收藏
页码:1917 / 1918
页数:2
相关论文
共 50 条
  • [1] NPHS1 gene mutation in Japanese patients with congenital nephrotic syndrome
    Aya, Kunihiko
    Shimizu, Junya
    Ohtomo, Yoshiyuki
    Satomura, Kenichi
    Suzuki, Hoshiro
    Yan, Kunimasa
    Sado, Yoshikazu
    Morishima, Tsuneo
    Tanaka, Hiroyuki
    NEPHROLOGY DIALYSIS TRANSPLANTATION, 2009, 24 (08) : 2411 - 2414
  • [2] Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS)
    Schoeb, Dominik S.
    Chernin, Gil
    Heeringa, Saskia F.
    Matejas, Verena
    Held, Susanne
    Vega-Warner, Virginia
    Bockenhauer, Detlef
    Vlangos, Christopher N.
    Moorani, Khemchand N.
    Neuhaus, Thomas J.
    Kari, Jameela A.
    MacDonald, James
    Saisawat, Pawaree
    Ashraf, Shazia
    Ovunc, Bugsu
    Zenker, Martin
    Hildebrandt, Friedhelm
    NEPHROLOGY DIALYSIS TRANSPLANTATION, 2010, 25 (09) : 2970 - 2976
  • [3] Functional analysis of NPHS1 mutations in Japanese patients
    Miyai, Takayuki
    Aya, Kunihiko
    Takaiwa, Masanori
    Yan, Kunimasa
    Sado, Yoshikazu
    Tanaka, Hiroyuki
    Morishima, Tsuneo
    HISTOLOGY AND HISTOPATHOLOGY, 2014, 29 (02) : 279 - 284
  • [4] Novel NPHS1 gene mutations in a Chinese family with congenital nephrotic syndrome
    Yang, Fengjie
    Chen, Yaxian
    Zhang, Yu
    Qiu, Liru
    Chen, Yu
    Zhou, Jianhua
    JOURNAL OF GENETICS, 2016, 95 (01) : 161 - 166
  • [5] Novel NPHS1 gene mutations in a Chinese family with congenital nephrotic syndrome
    FENGJIE YANG
    YAXIAN CHEN
    YU ZHANG
    LIRU QIU
    YU CHEN
    JIANHUA ZHOU
    Journal of Genetics, 2016, 95 : 161 - 166
  • [6] Mutations in NPHS1 in a Chinese child with congenital nephrotic syndrome
    Yu, Z. H.
    Wang, D. J.
    Meng, D. C.
    Huang, J.
    Nie, X. J.
    GENETICS AND MOLECULAR RESEARCH, 2012, 11 (02) : 1460 - 1464
  • [7] Novel NPHS1 Gene Mutations in two Chinese Infants with Congenital Nephrotic Syndrome
    Li, Peng
    INDIAN JOURNAL OF PEDIATRICS, 2017, 84 (06): : 489 - 490
  • [8] Structure of the gene for congenital nephrotic syndrome of the Finnish type (NPHS1) and characterization of mutations
    Lenkkeri, U
    Männikkö, M
    McCready, P
    Lamerdin, J
    Gribouval, O
    Niaudet, P
    Antignac, C
    Kashtan, CE
    Holmberg, C
    Olsen, A
    Kestilä, M
    Tryggvason, K
    AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 64 (01) : 51 - 61
  • [9] Congenital nephrotic syndrome (NPHS1):: Features resulting from different mutations in Finnish patients
    Patrakka, J
    Kestilä, M
    Wartiovaara, J
    Ruotsalainen, V
    Tissari, P
    Lenkkeri, U
    Männikkö, M
    Visapää, I
    Holmberg, C
    Rapola, J
    Tryggvason, K
    Jalanko, H
    KIDNEY INTERNATIONAL, 2000, 58 (03) : 972 - 980
  • [10] Novel NPHS1 Gene Mutations in two Chinese Infants with Congenital Nephrotic Syndrome
    Peng Li
    The Indian Journal of Pediatrics, 2017, 84 : 489 - 490