251 related articles for article (PubMed ID: 7524315)
1. Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene.
van Lieburg AF; Verdijk MA; Knoers VV; van Essen AJ; Proesmans W; Mallmann R; Monnens LA; van Oost BA; van Os CH; Deen PM
Am J Hum Genet; 1994 Oct; 55(4):648-52. PubMed ID: 7524315
[TBL] [Abstract][Full Text] [Related]
2. Aquaporin-2, a vasopressin-sensitive water channel, and nephrogenic diabetes insipidus.
Kuwahara M
Intern Med; 1998 Feb; 37(2):215-7. PubMed ID: 9550615
[TBL] [Abstract][Full Text] [Related]
3. 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 PJ; Konings IB; De Mattia F; Graat MP; Arthus MF; Lonergan M; Fujiwara TM; Knoers NV; Landau D; Balfe WJ; Oksche A; Rosenthal W; Müller D; Van Os CH; Deen PM
J Am Soc Nephrol; 2002 Sep; 13(9):2267-77. PubMed ID: 12191971
[TBL] [Abstract][Full Text] [Related]
4. Water channels encoded by mutant aquaporin-2 genes in nephrogenic diabetes insipidus are impaired in their cellular routing.
Deen PM; Croes H; van Aubel RA; Ginsel LA; van Os CH
J Clin Invest; 1995 May; 95(5):2291-6. PubMed ID: 7537761
[TBL] [Abstract][Full Text] [Related]
5. Mutations in the vasopressin V2 receptor and aquaporin-2 genes in 12 families with congenital nephrogenic diabetes insipidus.
Vargas-Poussou R; Forestier L; Dautzenberg MD; Niaudet P; Déchaux M; Antignac C
J Am Soc Nephrol; 1997 Dec; 8(12):1855-62. PubMed ID: 9402087
[TBL] [Abstract][Full Text] [Related]
6. New mutations in the AQP2 gene in nephrogenic diabetes insipidus resulting in functional but misrouted water channels.
Mulders SM; Knoers NV; Van Lieburg AF; Monnens LA; Leumann E; Wühl E; Schober E; Rijss JP; Van Os CH; Deen PM
J Am Soc Nephrol; 1997 Feb; 8(2):242-8. PubMed ID: 9048343
[TBL] [Abstract][Full Text] [Related]
7. 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
Hum Mol Genet; 1997 Oct; 6(11):1865-71. PubMed ID: 9302264
[TBL] [Abstract][Full Text] [Related]
8. An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex.
Mulders SM; Bichet DG; Rijss JP; Kamsteeg EJ; Arthus MF; Lonergan M; Fujiwara M; Morgan K; Leijendekker R; van der Sluijs P; van Os CH; Deen PM
J Clin Invest; 1998 Jul; 102(1):57-66. PubMed ID: 9649557
[TBL] [Abstract][Full Text] [Related]
9. New autosomal recessive mutations in aquaporin-2 causing nephrogenic diabetes insipidus through deficient targeting display normal expression in Xenopus oocytes.
Leduc-Nadeau A; Lussier Y; Arthus MF; Lonergan M; Martinez-Aguayo A; Riveira-Munoz E; Devuyst O; Bissonnette P; Bichet DG
J Physiol; 2010 Jun; 588(Pt 12):2205-18. PubMed ID: 20403973
[TBL] [Abstract][Full Text] [Related]
10. 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
J Clin Endocrinol Metab; 1998 Sep; 83(9):3205-9. PubMed ID: 9745427
[TBL] [Abstract][Full Text] [Related]
11. 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
Am J Hum Genet; 2001 Oct; 69(4):738-48. PubMed ID: 11536078
[TBL] [Abstract][Full Text] [Related]
12. A novel mechanism in recessive nephrogenic diabetes insipidus: wild-type aquaporin-2 rescues the apical membrane expression of intracellularly retained AQP2-P262L.
de Mattia F; Savelkoul PJ; Bichet DG; Kamsteeg EJ; Konings IB; Marr N; Arthus MF; Lonergan M; van Os CH; van der Sluijs P; Robertson G; Deen PM
Hum Mol Genet; 2004 Dec; 13(24):3045-56. PubMed ID: 15509592
[TBL] [Abstract][Full Text] [Related]
13. An impaired routing of wild-type aquaporin-2 after tetramerization with an aquaporin-2 mutant explains dominant nephrogenic diabetes insipidus.
Kamsteeg EJ; Wormhoudt TA; Rijss JP; van Os CH; Deen PM
EMBO J; 1999 May; 18(9):2394-400. PubMed ID: 10228154
[TBL] [Abstract][Full Text] [Related]
14. Reversed polarized delivery of an aquaporin-2 mutant causes dominant nephrogenic diabetes insipidus.
Kamsteeg EJ; Bichet DG; Konings IB; Nivet H; Lonergan M; Arthus MF; van Os CH; Deen PM
J Cell Biol; 2003 Dec; 163(5):1099-109. PubMed ID: 14662748
[TBL] [Abstract][Full Text] [Related]
15. Heteroligomerization of an Aquaporin-2 mutant with wild-type Aquaporin-2 and their misrouting to late endosomes/lysosomes explains dominant nephrogenic diabetes insipidus.
Marr N; Bichet DG; Lonergan M; Arthus MF; Jeck N; Seyberth HW; Rosenthal W; van Os CH; Oksche A; Deen PM
Hum Mol Genet; 2002 Apr; 11(7):779-89. PubMed ID: 11929850
[TBL] [Abstract][Full Text] [Related]
16. Aquaporin-2 water channel mutations causing nephrogenic diabetes insipidus.
van Os CH; Deen PM
Proc Assoc Am Physicians; 1998; 110(5):395-400. PubMed ID: 9756089
[TBL] [Abstract][Full Text] [Related]
17. Defective aquaporin-2 trafficking in nephrogenic diabetes insipidus and correction by chemical chaperones.
Tamarappoo BK; Verkman AS
J Clin Invest; 1998 May; 101(10):2257-67. PubMed ID: 9593782
[TBL] [Abstract][Full Text] [Related]
18. [Nephrogenic diabetes insipidus].
Ishikawa S
Nihon Rinsho; 1996 Mar; 54(3):819-24. PubMed ID: 8904243
[TBL] [Abstract][Full Text] [Related]
19. Defective processing and trafficking of water channels in nephrogenic diabetes insipidus.
Kamsteeg EJ; Deen PM; van Os CH
Exp Nephrol; 2000; 8(6):326-31. PubMed ID: 11014929
[TBL] [Abstract][Full Text] [Related]
20. Characterization of D150E and G196D aquaporin-2 mutations responsible for nephrogenic diabetes insipidus: importance of a mild phenotype.
Guyon C; Lussier Y; Bissonnette P; Leduc-Nadeau A; Lonergan M; Arthus MF; Perez RB; Tiulpakov A; Lapointe JY; Bichet DG
Am J Physiol Renal Physiol; 2009 Aug; 297(2):F489-98. PubMed ID: 19458121
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]