Aquaporin-2 water channel mutations and nephrogenic diabetes insipidus: new variations on a theme

被引：3
|
作者：
Rutishauser, J [1 ]
Kopp, P [1 ]
机构：
[1] Northwestern Univ, Div Endocrinol Metab & Mol Med, Chicago, IL 60611 USA
来源：
EUROPEAN JOURNAL OF ENDOCRINOLOGY | 1999年 / 140卷 / 02期
关键词：
D O I：
10.1530/eje.0.1400137
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
[No abstract available]
引用
收藏
页码：137 / 139
页数：3
相关论文
共 50 条
  • [31] Structural and functional analysis of aquaporin-2 mutants involved in nephrogenic diabetes insipidus
    Carl Johan Hagströmer
    Jonas Hyld Steffen
    Stefan Kreida
    Tamim Al-Jubair
    Anna Frick
    Pontus Gourdon
    Susanna Törnroth-Horsefield
    Scientific Reports, 13
  • [32] Defective aquaporin-2 trafficking in nephrogenic diabetes insipidus and correction by chemical chaperones
    Tamarappoo, BK
    Verkman, AS
    JOURNAL OF CLINICAL INVESTIGATION, 1998, 101 (10): : 2257 - 2267
  • [33] Structural and functional analysis of aquaporin-2 mutants involved in nephrogenic diabetes insipidus
    Hagstroemer, Carl Johan
    Hyld Steffen, Jonas
    Kreida, Stefan
    Al-Jubair, Tamim
    Frick, Anna
    Gourdon, Pontus
    Toernroth-Horsefield, Susanna
    SCIENTIFIC REPORTS, 2023, 13 (01)
  • [34] Novel Mutation of Aquaporin-2 Gene in a Patient with Congenital Nephrogenic Diabetes Insipidus
    Moon, Seong-Su
    Kim, Han-Jong
    Choi, Yeon-Kyung
    Seo, Hyun-Ae
    Jeon, Jae-Han
    Lee, Jung-Eun
    Lee, Ju-Young
    Kwon, Tae-Hwan
    Kim, Jung-Guk
    Kim, Bo-Wan
    Lee, In-Kyu
    ENDOCRINE JOURNAL, 2009, 56 (07) : 905 - 910
  • [35] Cell-biologic and functional analyses of five new Aquaporin-2 missense mutations that cause recessive nephrogenic diabetes insipidus
    Marr, N
    Bichet, DG
    Hoefs, S
    Savelkoul, PJM
    Konings, IBM
    De Mattia, F
    Graat, MPJ
    Arthus, MF
    Lonergan, M
    Fujiwara, TM
    Knoers, NVAM
    Landau, D
    Balfe, WJ
    Oksche, A
    Rosenthal, W
    Müller, D
    Van Os, CH
    Deen, PMT
    JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2002, 13 (09): : 2267 - 2277
  • [36] Three families with autosomal dominant nephrogenic diabetes insipidus caused by aquaporin-2 mutations in the C-terminus
    Kuwahara, M
    Iwai, K
    Ooeda, T
    Igarashi, T
    Ogawa, E
    Katsushima, Y
    Shinbo, I
    Uchida, S
    Terada, Y
    Arthus, MF
    Lonergan, M
    Fujiwara, TM
    Bichet, DG
    Marumo, F
    Sasaki, S
    AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (04) : 738 - 748
  • [37] Novel autosomal recessive gene mutations in aquaporin-2 in two Chinese congenital nephrogenic diabetes insipidus pedigrees
    Cen, Jing
    Nie, Min
    Duan, Lian
    Gu, Feng
    INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL MEDICINE, 2015, 8 (03): : 3629 - 3639
  • [38] 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
  • [39] 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
  • [40] Novel missense mutations in the aquaporin-2 (AQP2) gene in autosomal recessive nephrogenic diabetes insipidus (NDI).
    Kuwahara, M
    Goji, K
    Gu, Y
    Sasaki, S
    Marumo, F
    JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 1997, 8 : A1810 - A1810
12345