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Journal Abstract Search

241 related items for PubMed ID: 34177810

  • 1. Novel AQP2 Mutations and Clinical Characteristics in Seven Chinese Families With Congenital Nephrogenic Diabetes Insipidus.
    Li Q, Tian D, Cen J, Duan L, Xia W.
    Front Endocrinol (Lausanne); 2021; 12():686818. PubMed ID: 34177810
    [Abstract] [Full Text] [Related]

  • 2. Novel AVPR2 mutations and clinical characteristics in 28 Chinese families with congenital nephrogenic diabetes insipidus.
    Li Q, Tian D, Cen J, Duan L, Xia W.
    J Endocrinol Invest; 2021 Dec; 44(12):2777-2783. PubMed ID: 34101133
    [Abstract] [Full Text] [Related]

  • 3. Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study.
    García Castaño A, Pérez de Nanclares G, Madariaga L, Aguirre M, Chocron S, Madrid A, Lafita Tejedor FJ, Gil Campos M, Sánchez Del Pozo J, Ruiz Cano R, Espino M, Gomez Vida JM, Santos F, García Nieto VM, Loza R, Rodríguez LM, Hidalgo Barquero E, Printza N, Camacho JA, Castaño L, Ariceta G, RenalTube Group.
    Eur J Pediatr; 2015 Oct; 174(10):1373-85. PubMed ID: 25902753
    [Abstract] [Full Text] [Related]

  • 4. 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; 30(2):263-76. PubMed ID: 27156763
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. 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 26; 17(3):338-44. PubMed ID: 23150186
    [Abstract] [Full Text] [Related]

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

  • 8. Phenotype heterogeneity of congenital adrenal hyperplasia due to genetic mosaicism and concomitant nephrogenic diabetes insipidus in a sibling.
    Kor Y, Zou M, Al-Rijjal RA, Monies D, Meyer BF, Shi Y.
    BMC Med Genet; 2018 Jul 11; 19(1):115. PubMed ID: 29996815
    [Abstract] [Full Text] [Related]

  • 9. Novel AQP2 mutation causing congenital nephrogenic diabetes insipidus: challenges in management during infancy.
    Rugpolmuang R, Deeb A, Hassan Y, Deekajorndech T, Shotelersuk V, Sahakitrungruang T.
    J Pediatr Endocrinol Metab; 2014 Jan 11; 27(1-2):193-7. PubMed ID: 23950570
    [Abstract] [Full Text] [Related]

  • 10. Identification of two novel aquaporin-2 mutations in a Thai girl with congenital nephrogenic diabetes insipidus.
    Sahakitrungruang T, Wacharasindhu S, Sinthuwiwat T, Supornsilchai V, Suphapeetiporn K, Shotelersuk V.
    Endocrine; 2008 Apr 11; 33(2):210-4. PubMed ID: 18473191
    [Abstract] [Full Text] [Related]

  • 11. 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 11; 7(4):e00568. PubMed ID: 30784238
    [Abstract] [Full Text] [Related]

  • 12. 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 11; 13(9):2267-77. PubMed ID: 12191971
    [Abstract] [Full Text] [Related]

  • 13. [Clinical characteristics and molecular genetics of seven neonates with congenital nephrogenic diabetes insipidus].
    Dong X, Dong H, Kang W, Xiong H, Xu B, Lin F, Zheng X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Dec 10; 38(12):1185-1189. PubMed ID: 34839503
    [Abstract] [Full Text] [Related]

  • 14. 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 10; 6(11):1865-71. PubMed ID: 9302264
    [Abstract] [Full Text] [Related]

  • 15. 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 10; 69(4):738-48. PubMed ID: 11536078
    [Abstract] [Full Text] [Related]

  • 16. Further evidence for functional recovery of AQP2 mutations associated with nephrogenic diabetes insipidus.
    Bissonnette P, Lussier Y, Matar J, Leduc-Nadeau A, Da Cal S, Arthus MF, Unwin RJ, Steinke J, Rangaswamy D, Bichet DG.
    Physiol Rep; 2021 Jun 10; 9(11):e14866. PubMed ID: 34120413
    [Abstract] [Full Text] [Related]

  • 17. 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 15; 13(24):3045-56. PubMed ID: 15509592
    [Abstract] [Full Text] [Related]

  • 18. 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 15; 20(6):1076-8. PubMed ID: 16361827
    [Abstract] [Full Text] [Related]

  • 19. 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]

  • 20. 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 10; 8(12):1855-62. PubMed ID: 9402087
    [Abstract] [Full Text] [Related]

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