A FAMILY OF LIDDLES-SYNDROME CAUSED BY MISSENSE MUTATION OF THE BETA-SUBUNIT OF EPITHELIAL SODIUM-CHANNEL (BETA-ENAC)

被引:0
|
作者
TAMURA, H [1 ]
ENOMOTO, N [1 ]
MATSUI, N [1 ]
SASAKI, S [1 ]
MARUMO, F [1 ]
机构
[1] TOKYO MED & DENT UNIV,TOKYO,JAPAN
来源
关键词
D O I
暂无
中图分类号
R5 [内科学]; R69 [泌尿科学(泌尿生殖系疾病)];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:728 / 728
页数:1
相关论文
共 50 条
  • [1] LIDDLES SYNDROME - HERITABLE HUMAN HYPERTENSION CAUSED BY MUTATIONS IN THE BETA-SUBUNIT OF THE EPITHELIAL SODIUM-CHANNEL
    SHIMKETS, RA
    WARNOCK, DG
    BOSITIS, CM
    NELSONWILLIAMS, C
    HANSSON, JH
    SCHAMBELAN, M
    GILL, JR
    ULICK, S
    MILORA, RV
    FINDLING, JW
    CANESSA, CM
    ROSSIER, BC
    LIFTON, RP
    [J]. CELL, 1994, 79 (03) : 407 - 414
  • [3] A Family with Liddle Syndrome Caused by a Novel Missense Mutation in the PY Motif of the Beta-Subunit of the Epithelial Sodium Channel
    Gao, Linggen
    Wang, Linping
    Liu, Yaxin
    Zhou, Xianliang
    Hui, Rutai
    Hu, Aihua
    [J]. JOURNAL OF PEDIATRICS, 2013, 162 (01): : 166 - 170
  • [4] A novel frameshift mutation in the beta-subunit of the epithelial sodium channel gene caused Liddle syndrome
    Peng Fan
    Chaoxia Lu
    Di Zhang
    Kunqi Yang
    Peipei Lu
    Ying Zhang
    Xu Meng
    Yaxin Liu
    Xue Zhang
    Xianliang Zhou
    [J]. 中国循环杂志, 2018, (S1) : 162 - 162
  • [5] Liddle disease caused by a missense mutation of beta subunit of the epithelial sodium channel gene
    Tamura, H
    Schild, L
    Enomoto, N
    Matsui, N
    Marumo, F
    Rossier, BC
    Sasaki, S
    [J]. JOURNAL OF CLINICAL INVESTIGATION, 1996, 97 (07): : 1780 - 1784
  • [6] CLONING AND EXPRESSION OF THE BETA-SUBUNIT AND GAMMA-SUBUNIT OF THE HUMAN EPITHELIAL SODIUM-CHANNEL
    MCDONALD, FJ
    PRICE, MP
    SNYDER, PM
    WELSH, MJ
    [J]. AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY, 1995, 268 (05): : C1157 - C1163
  • [7] A family with Liddle's syndrome caused by a new missense mutation in the β subunit of the epithelial sodium channel
    Inoue, J
    Iwaoka, T
    Tokunaga, H
    Takamune, K
    Naomi, S
    Araki, M
    Takahama, K
    Yamaguchi, K
    Tomita, K
    [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1998, 83 (06): : 2210 - 2213
  • [8] Genetic polymorphisms in the beta-subunit of the epithelial sodium channel (βENaC) gene in the Japanese population
    Suzuki M.
    Sato T.
    Fujiwara T.
    Michimata M.
    Araki T.
    Metoki H.
    Kikuya M.
    Kazama I.
    Hashimoto J.
    Hozawa A.
    Ohkubo T.
    Tsuji I.
    Imai Y.
    Matsubara M.
    [J]. Clinical and Experimental Nephrology, 2002, 6 (3) : 130 - 134
  • [9] A DE-NOVO MISSENSE MUTATION OF THE BETA-SUBUNIT OF THE EPITHELIAL SODIUM-CHANNEL CAUSES HYPERTENSION AND LIDDLE SYNDROME, IDENTIFYING A PROLINE-RICH SEGMENT CRITICAL FOR REGULATION OF CHANNEL ACTIVITY
    HANSSON, JH
    SCHILD, L
    LU, Y
    WILSON, TA
    GAUTSCHI, I
    SHIMKETS, R
    NELSONWILLIAMS, C
    ROSSIER, BC
    LIFTON, RP
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1995, 92 (25) : 11495 - 11499
  • [10] CHARACTERIZATION OF SODIUM-CHANNEL BETA-SUBUNIT ISOFORMS FROM HUMAN TISSUES
    BURGHES, SC
    RAMMOHAN, KW
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1993, 53 (03) : 1608 - 1608