BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

273 related articles for article (PubMed ID: 11929850)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. Importance of aquaporin-2 expression levels in genotype -phenotype studies in nephrogenic diabetes insipidus.
    Kamsteeg EJ; Deen PM
    Am J Physiol Renal Physiol; 2000 Oct; 279(4):F778-84. PubMed ID: 10997928
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Lack of arginine vasopressin-induced phosphorylation of aquaporin-2 mutant AQP2-R254L explains dominant nephrogenic diabetes insipidus.
    de Mattia F; Savelkoul PJ; Kamsteeg EJ; Konings IB; van der Sluijs P; Mallmann R; Oksche A; Deen PM
    J Am Soc Nephrol; 2005 Oct; 16(10):2872-80. PubMed ID: 16120822
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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 Int; 2003 Jul; 64(1):2-10. PubMed ID: 12787389
    [TBL] [Abstract][Full Text] [Related]  

  • 11. p.R254Q mutation in the aquaporin-2 water channel causing dominant nephrogenic diabetes insipidus is due to a lack of arginine vasopressin-induced phosphorylation.
    Savelkoul PJ; De Mattia F; Li Y; Kamsteeg EJ; Konings IB; van der Sluijs P; Deen PM
    Hum Mutat; 2009 Oct; 30(10):E891-903. PubMed ID: 19585583
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. Functionality of aquaporin-2 missense mutants in recessive nephrogenic diabetes insipidus.
    Marr N; Kamsteeg EJ; van Raak M; van Os CH; Deen PM
    Pflugers Arch; 2001 Apr; 442(1):73-7. PubMed ID: 11374071
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Missorting of the Aquaporin-2 mutant E258K to multivesicular bodies/lysosomes in dominant NDI is associated with its monoubiquitination and increased phosphorylation by PKC but is due to the loss of E258.
    Kamsteeg EJ; Savelkoul PJ; Hendriks G; Konings IB; Nivillac NM; Lagendijk AK; van der Sluijs P; Deen PM
    Pflugers Arch; 2008 Mar; 455(6):1041-54. PubMed ID: 17965877
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Detection of aquaporin-2 in the plasma membranes of oocytes: a novel isolation method with improved yield and purity.
    Kamsteeg EJ; Deen PM
    Biochem Biophys Res Commun; 2001 Apr; 282(3):683-90. PubMed ID: 11401515
    [TBL] [Abstract][Full Text] [Related]  

  • 20. The proteasome is involved in the degradation of different aquaporin-2 mutants causing nephrogenic diabetes insipidus.
    Hirano K; Zuber C; Roth J; Ziak M
    Am J Pathol; 2003 Jul; 163(1):111-20. PubMed ID: 12819016
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.