Functional characterization of gain-of-function mutations of the V2 vasopressin receptor causing to nephrogenic syndrome of inappropriate antidiuresis (NSIAD)

被引:0
|
作者
Ranieri, M. [1 ]
Tamma, G. [1 ]
Vezzi, V. [2 ]
Di Mise, A. [1 ]
Venneri, M. [1 ]
Centrone, M. [1 ]
Cotecchia, S. [1 ]
Valenti, G. [1 ]
机构
[1] Univ Bari, Dept Biosci Biotechnol & Biopharmaceut, Bari, Italy
[2] Ist Super Sanita, Dept Pharmacol, Rome, Italy
关键词
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
55ASM-0110
引用
收藏
页码:126 / 127
页数:2
相关论文
共 50 条
  • [41] CLONING AND CHARACTERIZATION OF A VASOPRESSIN V2 RECEPTOR AND POSSIBLE LINK TO NEPHROGENIC DIABETES-INSIPIDUS
    LOLAIT, SJ
    OCARROLL, AM
    MCBRIDE, OW
    KONIG, M
    MOREL, A
    BROWNSTEIN, MJ
    NATURE, 1992, 357 (6376) : 336 - 339
  • [42] NOVEL MUTATIONS IN THE V2 VASOPRESSIN RECEPTOR GENE IN 2 PEDIGREES WITH CONGENITAL NEPHROGENIC DIABETES-INSIPIDUS
    YUASA, H
    ITO, M
    OISO, Y
    KUROKAWA, M
    WATANABE, T
    ODA, Y
    ISHIZUKA, T
    TANI, N
    ITO, S
    SHIBATA, A
    SAITO, H
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1994, 79 (02): : 361 - 365
  • [43] 2 NOVEL MUTATIONS IN THE VASOPRESSIN V2 RECEPTOR GENE IN PATIENTS WITH CONGENITAL NEPHROGENIC DIABETES-INSIPIDUS
    OKSCHE, A
    DICKSON, J
    SCHULEIN, R
    SEYBERTH, HW
    MULLER, M
    RASCHER, W
    BIRNBAUMER, M
    ROSENTHAL, W
    BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1994, 205 (01) : 552 - 557
  • [44] The V2 vasopressin receptor mutations and fluid homeostasis
    Birnbaumer, M
    CARDIOVASCULAR RESEARCH, 2001, 51 (03) : 409 - 415
  • [45] Functional study of V2 receptor gene mutations responsible for congenital nephrogenic diabetes insipidus
    Morin, D
    Ala, Y
    Vargas, R
    Sabatier, N
    Antignac, C
    Dechaux, M
    Loirat, C
    Broyer, M
    Dumas, R
    Bichet, D
    Jard, S
    Barberis, C
    ARCHIVES DE PEDIATRIE, 1997, 4 : S193 - S194
  • [46] Mutations in the vasopressin V2 receptor and aquaporin-2 genes in 12 families with congenital nephrogenic diabetes insipidus
    VargasPoussou, R
    Forestier, L
    Dautzenberg, MD
    Niaudet, P
    Dechaux, M
    Antignac, C
    JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 1997, 8 (12): : 1855 - 1862
  • [47] MUTATIONS IN THE V2 VASOPRESSIN RECEPTOR GENE ARE ASSOCIATED WITH X-LINKED NEPHROGENIC DIABETES-INSIPIDUS
    PAN, Y
    METZENBERG, A
    DAS, S
    JING, B
    GITSCHIER, J
    NATURE GENETICS, 1992, 2 (02) : 103 - 106
  • [48] FUNCTIONAL-CHARACTERIZATION OF CNDI MUTATIONS IN THE VASOPRESSIN V2 RECEPTOR USING EPITOPE-TAGGED RECEPTORS
    HOLTZMAN, EJ
    KOLAKOWSKI, LF
    STOW, JL
    BROWN, D
    AUSIELLO, DA
    JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 1994, 5 (03): : 273 - 273
  • [49] 2 NOVEL MUTATIONS IN THE VASOPRESSIN V2 RECEPTOR GENE IN UNRELATED JAPANESE KINDREDS WITH NEPHROGENIC DIABETES-INSIPIDUS
    TSUKAGUCHI, H
    MATSUBARA, H
    ARITAKI, S
    KIMURA, T
    ABE, S
    INADA, M
    BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1993, 197 (02) : 1000 - 1010
  • [50] Mutations in the vasopressin V2 receptor and aquaporin-2 genies in twelve families with congenital nephrogenic diabetes insipidus
    Vargas-Poussou, R
    Forestier, L
    Dautzenberg, MD
    Niaudet, P
    Dechaux, M
    Antignac, C
    VASOPRESSIN AND OXYTOCIN: MOLECULAR, CELLULAR, AND CLINICAL ADVANCES, 1998, 449 : 387 - 390