BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

102 related articles for article (PubMed ID: 11832768)

  • 1. The aquaporin-2 water channel in autosomal dominant primary nocturnal enuresis.
    Deen PM; Dahl N; Caplan MJ
    J Urol; 2002 Mar; 167(3):1447-50. PubMed ID: 11832768
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Do aquaporins have a role in nocturnal enuresis?
    Frøkiaer J; Nielsen S
    Scand J Urol Nephrol Suppl; 1997; 183():31-2. PubMed ID: 9165602
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. [From genes to disease: from vasopressin-V2-receptor and aquaporine-2 to nephrogenic diabetes insipidus].
    Knoers NV; Deen PM
    Ned Tijdschr Geneeskd; 2000 Dec; 144(50):2402-4. PubMed ID: 11145096
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Linkage study of a large Danish 4-generation family with urge incontinence and nocturnal enuresis.
    Eiberg H; Shaumburg HL; Von Gontard A; Rittig S
    J Urol; 2001 Dec; 166(6):2401-3. PubMed ID: 11696797
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The genetics of primary nocturnal enuresis: inheritance and suggestion of a second major gene on chromosome 12q.
    Arnell H; Hjälmås K; Jägervall M; Läckgren G; Stenberg A; Bengtsson B; Wassén C; Emahazion T; Annerén G; Pettersson U; Sundvall M; Dahl N
    J Med Genet; 1997 May; 34(5):360-5. PubMed ID: 9152831
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Pili annulati: refinement of the locus on chromosome 12q24.33 to a 2.9-Mb interval and candidate gene analysis.
    Giehl KA; Rogers MA; Radivojkov M; Tosti A; de Berker DA; Weinlich G; Schmuth M; Ruzicka T; Eckstein GN
    Br J Dermatol; 2009 Mar; 160(3):527-33. PubMed ID: 19067701
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Alport syndrome. Molecular genetic aspects.
    Hertz JM
    Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Assignment of dominant inherited nocturnal enuresis (ENUR1) to chromosome 13q.
    Eiberg H; Berendt I; Mohr J
    Nat Genet; 1995 Jul; 10(3):354-6. PubMed ID: 7670476
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Are aquaporin water channels the "holy grail" of primary nocturnal enuresis?
    Davis ID; MacRae Dell K
    J Urol; 2002 Mar; 167(3):1451-2. PubMed ID: 11832769
    [No Abstract]   [Full Text] [Related]  

  • 14. Desmopressin for nocturnal enuresis in nephrogenic diabetes insipidus.
    Müller D; Marr N; Ankermann T; Eggert P; Deen PM
    Lancet; 2002 Feb; 359(9305):495-7. PubMed ID: 11853799
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Closely spaced tandem arrangement of AQP2, AQP5, and AQP6 genes in a 27-kilobase segment at chromosome locus 12q13.
    Ma T; Yang B; Umenishi F; Verkman AS
    Genomics; 1997 Aug; 43(3):387-9. PubMed ID: 9268644
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. A homozygous splice mutation in the HSF4 gene is associated with an autosomal recessive congenital cataract.
    Smaoui N; Beltaief O; BenHamed S; M'Rad R; Maazoul F; Ouertani A; Chaabouni H; Hejtmancik JF
    Invest Ophthalmol Vis Sci; 2004 Aug; 45(8):2716-21. PubMed ID: 15277496
    [TBL] [Abstract][Full Text] [Related]  

  • 19. The genetic basis of inherited primary nocturnal enuresis: A UAE study.
    Bayoumi RA; Eapen V; Al-Yahyaee S; Al Barwani HS; Hill RS; Al Gazali L
    J Psychosom Res; 2006 Sep; 61(3):317-20. PubMed ID: 16938508
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 6.