These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

204 related articles for article (PubMed ID: 12787389)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 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. 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]  

  • 10. 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]  

  • 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. Diffusion in the endoplasmic reticulum of an aquaporin-2 mutant causing human nephrogenic diabetes insipidus.
    Levin MH; Haggie PM; Vetrivel L; Verkman AS
    J Biol Chem; 2001 Jun; 276(24):21331-6. PubMed ID: 11297561
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. cDNA and genomic cloning of mouse aquaporin-2: functional analysis of an orthologous mutant causing nephrogenic diabetes insipidus.
    Yang B; Ma T; Xu Z; Verkman AS
    Genomics; 1999 Apr; 57(1):79-83. PubMed ID: 10191086
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. Molecular characterization of an aquaporin-2 mutation causing a severe form of nephrogenic diabetes insipidus.
    Saglar Ozer E; Moeller HB; Karaduman T; Fenton RA; Mergen H
    Cell Mol Life Sci; 2020 Mar; 77(5):953-962. PubMed ID: 31302751
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Pathogenesis and treatment of autosomal-dominant nephrogenic diabetes insipidus caused by an aquaporin 2 mutation.
    Sohara E; Rai T; Yang SS; Uchida K; Nitta K; Horita S; Ohno M; Harada A; Sasaki S; Uchida S
    Proc Natl Acad Sci U S A; 2006 Sep; 103(38):14217-22. PubMed ID: 16968783
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Functional analysis of aquaporin-2 mutants associated with nephrogenic diabetes insipidus by yeast expression.
    Shinbo I; Fushimi K; Kasahara M; Yamauchi K; Sasaki S; Marumo F
    Am J Physiol; 1999 Nov; 277(5):F734-41. PubMed ID: 10564236
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 11.