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Journal Abstract Search

134 related items for PubMed ID: 17192724

  • 1. Characterization of two novel missense mutations in the AQP2 gene causing nephrogenic diabetes insipidus.
    Iolascon A, Aglio V, Tamma G, D'Apolito M, Addabbo F, Procino G, Simonetti MC, Montini G, Gesualdo L, Debler EW, Svelto M, Valenti G.
    Nephron Physiol; 2007; 105(3):p33-41. PubMed ID: 17192724
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. 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; 33(2):210-4. PubMed ID: 18473191
    [Abstract] [Full Text] [Related]

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

  • 5. 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; 20(6):1076-8. PubMed ID: 16361827
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. Nephrogenic diabetes insipidus in a 15-year-old Hispanic female with a novel AQP2 mutation.
    Long BC, Weber ZJ, Oberlin JM, Sutter DE, Berg JM.
    J Pediatr Endocrinol Metab; 2019 Sep 25; 32(9):1031-1034. PubMed ID: 31348762
    [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 Sep 25; 56(7):905-10. PubMed ID: 19461158
    [Abstract] [Full Text] [Related]

  • 9. Genetic analysis of nephrogenic diabetes insipidus patients: A study on the Iranian population.
    Ghasemi S, Mojbafan M, Talebi S, Hooman N, Hoseini R.
    Mol Genet Genomic Med; 2024 Apr 25; 12(4):e2421. PubMed ID: 38622833
    [Abstract] [Full Text] [Related]

  • 10. 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 25; 174(10):1373-85. PubMed ID: 25902753
    [Abstract] [Full Text] [Related]

  • 11. 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 25; 17(3):338-44. PubMed ID: 23150186
    [Abstract] [Full Text] [Related]

  • 12. [Compound heterozygosis with novel AQP2 gene mutation in sisters affected by autosomal congenital nephrogenic diabetes insipidus].
    Musone D, Nicosia V, Treglia A, Amoroso F, de Gemmis P, Enzo MV, Hladnik U.
    G Ital Nefrol; 2020 Apr 09; 37(2):. PubMed ID: 32281760
    [Abstract] [Full Text] [Related]

  • 13. 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 09; 6(11):1865-71. PubMed ID: 9302264
    [Abstract] [Full Text] [Related]

  • 14. 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 Oct 09; 12():686818. PubMed ID: 34177810
    [Abstract] [Full Text] [Related]

  • 15. 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 09; 77(5):953-962. PubMed ID: 31302751
    [Abstract] [Full Text] [Related]

  • 16. Partial nephrogenic diabetes insipidus caused by a novel AQP2 variation impairing trafficking of the aquaporin-2 water channel.
    Dollerup P, Thomsen TM, Nejsum LN, Færch M, Österbrand M, Gregersen N, Rittig S, Christensen JH, Corydon TJ.
    BMC Nephrol; 2015 Dec 29; 16():217. PubMed ID: 26714855
    [Abstract] [Full Text] [Related]

  • 17. 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 15; 588(Pt 12):2205-18. PubMed ID: 20403973
    [Abstract] [Full Text] [Related]

  • 18. 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 15; 69(4):738-48. PubMed ID: 11536078
    [Abstract] [Full Text] [Related]

  • 19. 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 15; 30(10):E891-903. PubMed ID: 19585583
    [Abstract] [Full Text] [Related]

  • 20. 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 15; 9(11):e14866. PubMed ID: 34120413
    [Abstract] [Full Text] [Related]

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