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136 related items for PubMed ID: 37448274

  • 1. [Clinical and laboratory characteristics of arginine vasopressin resistance, caused by a new homozygous mutation p.R113C in AQP2].
    Makretskaya NA, Nanzanova US, Hamaganova IR, Eremina ER, Tiulpakov AN.
    Probl Endokrinol (Mosk); 2023 May 12; 69(2):75-79. PubMed ID: 37448274
    [Abstract] [Full Text] [Related]

  • 2. Genetic forms of nephrogenic diabetes insipidus (NDI): Vasopressin receptor defect (X-linked) and aquaporin defect (autosomal recessive and dominant).
    Bichet DG, Bockenhauer D.
    Best Pract Res Clin Endocrinol Metab; 2016 Mar 12; 30(2):263-76. PubMed ID: 27156763
    [Abstract] [Full Text] [Related]

  • 3. AQP2: Mutations Associated with Congenital Nephrogenic Diabetes Insipidus and Regulation by Post-Translational Modifications and Protein-Protein Interactions.
    Gao C, Higgins PJ, Zhang W.
    Cells; 2020 Sep 26; 9(10):. PubMed ID: 32993088
    [Abstract] [Full Text] [Related]

  • 4. Nephrogenic diabetes insipidus.
    Bichet DG.
    Adv Chronic Kidney Dis; 2006 Apr 26; 13(2):96-104. PubMed ID: 16580609
    [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 26; 8(12):1855-62. PubMed ID: 9402087
    [Abstract] [Full Text] [Related]

  • 6. Physiopathology and diagnosis of nephrogenic diabetes insipidus.
    Devuyst O.
    Ann Endocrinol (Paris); 2012 Apr 26; 73(2):128-9. PubMed ID: 22503803
    [Abstract] [Full Text] [Related]

  • 7. Hereditary Nephrogenic Diabetes Insipidus: Pathophysiology and Possible Treatment. An Update.
    Milano S, Carmosino M, Gerbino A, Svelto M, Procino G.
    Int J Mol Sci; 2017 Nov 10; 18(11):. PubMed ID: 29125546
    [Abstract] [Full Text] [Related]

  • 8. Novel mutation of aquaporin-2 gene in a patient with congenital nephrogenic diabetes insipidus.
    Moon SS, Kim HJ, Choi YK, Seo HA, Jeon JH, Lee JE, Lee JY, Kwon TH, Kim JG, Kim BW, Lee IK.
    Endocr J; 2009 Nov 10; 56(7):905-10. PubMed ID: 19461158
    [Abstract] [Full Text] [Related]

  • 9. Two novel mutations in the aquaporin 2 gene in a girl with congenital nephrogenic diabetes insipidus.
    Cheong HI, Cho SJ, Zheng SH, Cho HY, Ha IS, Choi Y.
    J Korean Med Sci; 2005 Dec 10; 20(6):1076-8. PubMed ID: 16361827
    [Abstract] [Full Text] [Related]

  • 10. V2R mutations and nephrogenic diabetes insipidus.
    Bichet DG.
    Prog Mol Biol Transl Sci; 2009 Dec 10; 89():15-29. PubMed ID: 20374732
    [Abstract] [Full Text] [Related]

  • 11. Nephrogenic diabetes insipidus.
    Bichet DG.
    Am J Med; 1998 Nov 10; 105(5):431-42. PubMed ID: 9831428
    [Abstract] [Full Text] [Related]

  • 12. Severe congenital nephrogenic diabetes insipidus in a compound heterozygote with a new large deletion of the AQP2 gene. A case report.
    Peces R, Mena R, Peces C, Santos-Simarro F, Fernández L, Afonso S, Lapunzina P, Selgas R, Nevado J.
    Mol Genet Genomic Med; 2019 Apr 10; 7(4):e00568. PubMed ID: 30784238
    [Abstract] [Full Text] [Related]

  • 13. A female with X-linked Nephrogenic diabetes insipidus in a family with inherited central diabetes Insipidus: Case report and review of the literature.
    Ding C, Beetz R, Rittner G, Bartsch O.
    Am J Med Genet A; 2020 May 10; 182(5):1032-1040. PubMed ID: 32073219
    [Abstract] [Full Text] [Related]

  • 14. Genetic basis of nephrogenic diabetes insipidus.
    Hureaux M, Vargas-Poussou R.
    Mol Cell Endocrinol; 2023 Jan 15; 560():111825. PubMed ID: 36460218
    [Abstract] [Full Text] [Related]

  • 15. Hereditary nephrogenic diabetes insipidus in Japanese patients: analysis of 78 families and report of 22 new mutations in AVPR2 and AQP2.
    Sasaki S, Chiga M, Kikuchi E, Rai T, Uchida S.
    Clin Exp Nephrol; 2013 Jun 15; 17(3):338-44. PubMed ID: 23150186
    [Abstract] [Full Text] [Related]

  • 16. A Novel Missense Mutation of Arginine Vasopressin Receptor 2 in a Chinese Family with Congenital Nephrogenic Diabetes Insipidus: X-Chromosome Inactivation in Female CNDI Patients with Heterozygote 814A>G Mutation.
    Zang L, Gong Y, Li Y, Dou J, Lyu Z, Su X, Zhang Y, Mu Y.
    Biomed Res Int; 2022 Jun 15; 2022():7073158. PubMed ID: 35865667
    [Abstract] [Full Text] [Related]

  • 17. Nephrogenic diabetes insipidus: essential insights into the molecular background and potential therapies for treatment.
    Moeller HB, Rittig S, Fenton RA.
    Endocr Rev; 2013 Apr 15; 34(2):278-301. PubMed ID: 23360744
    [Abstract] [Full Text] [Related]

  • 18. Vasopressin-aquaporin-2 pathway: recent advances in understanding water balance disorders.
    Ranieri M, Di Mise A, Tamma G, Valenti G.
    F1000Res; 2019 Apr 15; 8():. PubMed ID: 30800291
    [Abstract] [Full Text] [Related]

  • 19. [Nephrogenic diabetes insipidus].
    Bichet DG.
    Nephrol Ther; 2006 Nov 15; 2(6):387-404. PubMed ID: 17081961
    [Abstract] [Full Text] [Related]

  • 20. Nephrogenic diabetes insipidus.
    Morello JP, Bichet DG.
    Annu Rev Physiol; 2001 Nov 15; 63():607-30. PubMed ID: 11181969
    [Abstract] [Full Text] [Related]

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