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
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
  • [1] Aquaporin-2 water channel mutations causing nephrogenic diabetes insipidus
    van Os, CH
    Deen, PMT
    PROCEEDINGS OF THE ASSOCIATION OF AMERICAN PHYSICIANS, 1998, 110 (05) : 395 - 400
  • [2] Mutations of aquaporin-2, chaperones and nephrogenic diabetes insipidus
    Prié, D
    NEPHROLOGIE, 1999, 20 (02): : 88 - 89
  • [3] AUTOSOMAL NEPHROGENIC DIABETES-INSIPIDUS CAUSED BY MUTATIONS IN THE AQUAPORIN-2 WATER CHANNEL GENE
    VANLIEBURG, AF
    VERDIJK, MAJ
    KNOERS, VVAM
    VANOOST, BA
    MONNENS, LAH
    VANOS, CH
    DEEN, PMT
    JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 1994, 5 (03): : 639 - 639
  • [4] Identification and characterization of aquaporin-2 water channel mutations causing nephrogenic diabetes insipidus with partial vasopressin response
    Canfield, MC
    Tamarappoo, BK
    Moses, AM
    Verkman, AS
    Holtzman, EJ
    HUMAN MOLECULAR GENETICS, 1997, 6 (11) : 1865 - 1871
  • [5] PATIENTS WITH AUTOSOMAL NEPHROGENIC DIABETES-INSIPIDUS HOMOZYGOUS FOR MUTATIONS IN THE AQUAPORIN-2 WATER-CHANNEL GENE
    VANLIEBURG, AF
    VERDIJK, MAJ
    KNOERS, VVAM
    VANESSEN, AJ
    PROESMANS, W
    MALLMANN, R
    MONNENS, LAH
    VANOOST, BA
    VANOS, CH
    DEEN, PMT
    AMERICAN JOURNAL OF HUMAN GENETICS, 1994, 55 (04) : 648 - 652
  • [6] Misfolding of mutant aquaporin-2 water channels in nephrogenic diabetes insipidus
    Tamarappoo, BK
    Yang, BX
    Verkman, AS
    JOURNAL OF BIOLOGICAL CHEMISTRY, 1999, 274 (49) : 34825 - 34831
  • [7] Novel mutations in aquaporin-2 gene in female siblings with nephrogenic diabetes insipidus: Evidence of disrupted water channel function
    Goji, K
    Kuwahara, M
    Gu, Y
    Matsuo, M
    Marumo, F
    Sasaki, S
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1998, 83 (09): : 3205 - 3209
  • [8] Pathogenesis of nephrogenic diabetes insipidus by aquaporin-2 C-terminus mutations
    Asai, T
    Kuwahara, M
    Kurihara, H
    Sakai, T
    Terada, Y
    Marumo, F
    Sasaki, S
    KIDNEY INTERNATIONAL, 2003, 64 (01) : 2 - 10
  • [9] Vasopressin type-2 receptor and aquaporin-2 water channel mutants in nephrogenic diabetes insipidus
    Deen, PMT
    Knoers, NVAM
    AMERICAN JOURNAL OF THE MEDICAL SCIENCES, 1998, 316 (05): : 300 - 309
  • [10] Redirection of the wild-type Aquaporin-2 water channel to lysosomes by an Aquaporin-2 mutant explains dominant Nephrogenic Diabetes Insipidus
    Marr, N
    Bichet, DG
    Oksche, A
    Lonergan, M
    Arthus, MF
    van Os, CH
    Deen, PMT
    FASEB JOURNAL, 2001, 15 (04): : A138 - A138