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Journal Abstract Search

152 related items for PubMed ID: 23110775

  • 41. Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III.
    Simon DB, Bindra RS, Mansfield TA, Nelson-Williams C, Mendonca E, Stone R, Schurman S, Nayir A, Alpay H, Bakkaloglu A, Rodriguez-Soriano J, Morales JM, Sanjad SA, Taylor CM, Pilz D, Brem A, Trachtman H, Griswold W, Richard GA, John E, Lifton RP.
    Nat Genet; 1997 Oct; 17(2):171-8. PubMed ID: 9326936
    [Abstract] [Full Text] [Related]

  • 42. Carboxyl-terminal Truncations of ClC-Kb Abolish Channel Activation by Barttin Via Modified Common Gating and Trafficking.
    Stölting G, Bungert-Plümke S, Franzen A, Fahlke C.
    J Biol Chem; 2015 Dec 18; 290(51):30406-16. PubMed ID: 26453302
    [Abstract] [Full Text] [Related]

  • 43. Clinical and Genetic Spectrum of Bartter Syndrome Type 3.
    Seys E, Andrini O, Keck M, Mansour-Hendili L, Courand PY, Simian C, Deschenes G, Kwon T, Bertholet-Thomas A, Bobrie G, Borde JS, Bourdat-Michel G, Decramer S, Cailliez M, Krug P, Cozette P, Delbet JD, Dubourg L, Chaveau D, Fila M, Jourde-Chiche N, Knebelmann B, Lavocat MP, Lemoine S, Djeddi D, Llanas B, Louillet F, Merieau E, Mileva M, Mota-Vieira L, Mousson C, Nobili F, Novo R, Roussey-Kesler G, Vrillon I, Walsh SB, Teulon J, Blanchard A, Vargas-Poussou R.
    J Am Soc Nephrol; 2017 Aug 18; 28(8):2540-2552. PubMed ID: 28381550
    [Abstract] [Full Text] [Related]

  • 44. A founder mutation in the CLCNKB gene causes Bartter syndrome type III in Spain.
    Rodríguez-Soriano J, Vallo A, Pérez de Nanclares G, Bilbao JR, Castaño L.
    Pediatr Nephrol; 2005 Jul 18; 20(7):891-6. PubMed ID: 15875219
    [Abstract] [Full Text] [Related]

  • 45. Nephrocalcinosis as adult presentation of Bartter syndrome type II.
    Huang L, Luiken GP, van Riemsdijk IC, Petrij F, Zandbergen AA, Dees A.
    Neth J Med; 2014 Feb 18; 72(2):91-3. PubMed ID: 24659592
    [Abstract] [Full Text] [Related]

  • 46.
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  • 47. Role of zebrafish ClC-K/barttin channels in apical kidney chloride reabsorption.
    Pérez-Rius C, Castellanos A, Gaitán-Peñas H, Navarro A, Artuch R, Barrallo-Gimeno A, Estévez R.
    J Physiol; 2019 Aug 18; 597(15):3969-3983. PubMed ID: 31177533
    [Abstract] [Full Text] [Related]

  • 48. Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype.
    Jeck N, Konrad M, Peters M, Weber S, Bonzel KE, Seyberth HW.
    Pediatr Res; 2000 Dec 18; 48(6):754-8. PubMed ID: 11102542
    [Abstract] [Full Text] [Related]

  • 49. Pharmacotyping of hypokalaemic salt-losing tubular disorders.
    Reinalter SC, Jeck N, Peters M, Seyberth HW.
    Acta Physiol Scand; 2004 Aug 18; 181(4):513-21. PubMed ID: 15283765
    [Abstract] [Full Text] [Related]

  • 50. [Bartter syndrome, severe rare orphan kidney disease: a step towards therapy through pharmacogenetic and epidemiological studies].
    Conte E, Imbrici P, Sahbani D, Liantonio A, Conte D.
    G Ital Nefrol; 2018 May 18; 35(3):. PubMed ID: 29786180
    [Abstract] [Full Text] [Related]

  • 51. Heterozygous mutations of the gene for Kir 1.1 (ROMK) in antenatal Bartter syndrome presenting with transient hyperkalemia, evolving to a benign course.
    Cho JT, Guay-Woodford LM.
    J Korean Med Sci; 2003 Feb 18; 18(1):65-8. PubMed ID: 12589089
    [Abstract] [Full Text] [Related]

  • 52. Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis.
    Najafi M, Kordi-Tamandani DM, Behjati F, Sadeghi-Bojd S, Bakey Z, Karimiani EG, Schüle I, Azarfar A, Schmidts M.
    Orphanet J Rare Dis; 2019 Feb 13; 14(1):41. PubMed ID: 30760291
    [Abstract] [Full Text] [Related]

  • 53. DHHC7-mediated palmitoylation of the accessory protein barttin critically regulates the functions of ClC-K chloride channels.
    Gorinski N, Wojciechowski D, Guseva D, Abdel Galil D, Mueller FE, Wirth A, Thiemann S, Zeug A, Schmidt S, Zareba-Kozioł M, Wlodarczyk J, Skryabin BV, Glage S, Fischer M, Al-Samir S, Kerkenberg N, Hohoff C, Zhang W, Endeward V, Ponimaskin E.
    J Biol Chem; 2020 May 01; 295(18):5970-5983. PubMed ID: 32184353
    [Abstract] [Full Text] [Related]

  • 54. A Spanish founder mutation in the chloride channel gene, CLCNKB, as a cause of atypical Bartter syndrome in adult age.
    Gorgojo JJ, Donnay S, Jeck N, Konrad M.
    Horm Res; 2006 May 01; 65(2):62-8. PubMed ID: 16391491
    [Abstract] [Full Text] [Related]

  • 55. Functional Study of Novel Bartter's Syndrome Mutations in ClC-Kb and Rescue by the Accessory Subunit Barttin Toward Personalized Medicine.
    Sahbani D, Strumbo B, Tedeschi S, Conte E, Camerino GM, Benetti E, Montini G, Aceto G, Procino G, Imbrici P, Liantonio A.
    Front Pharmacol; 2020 May 01; 11():327. PubMed ID: 32256370
    [Abstract] [Full Text] [Related]

  • 56. Tacrolimus ameliorates the phenotypes of type 4 Bartter syndrome model mice through activation of sodium-potassium-2 chloride cotransporter and sodium-chloride cotransporter.
    Matsuura Y, Nomura N, Shoda W, Mori T, Isobe K, Susa K, Ando F, Sohara E, Rai T, Uchida S.
    Biochem Biophys Res Commun; 2019 Sep 17; 517(2):364-368. PubMed ID: 31362893
    [Abstract] [Full Text] [Related]

  • 57. Simultaneous mutations in the CLCNKB and SLC12A3 genes in two siblings with phenotypic heterogeneity in classic Bartter syndrome.
    Bettinelli A, Borsa N, Syrén ML, Mattiello C, Coviello D, Edefonti A, Giani M, Travi M, Tedeschi S.
    Pediatr Res; 2005 Dec 17; 58(6):1269-73. PubMed ID: 16306206
    [Abstract] [Full Text] [Related]

  • 58. Influence of gain of function epithelial chloride channel ClC-Kb mutation on hearing thresholds.
    Frey A, Lampert A, Waldegger S, Jeck N, Waldegger P, Artunc F, Seebohm G, Lang UE, Kupka S, Pfister M, Hoppe J, Gerloff C, Schaeffeler E, Schwab M, Lang F.
    Hear Res; 2006 Apr 17; 214(1-2):68-75. PubMed ID: 16549283
    [Abstract] [Full Text] [Related]

  • 59. Novel compound heterozygous CLCNKB gene mutations (c.1755A>G/c.848_850delTCT) cause classic Bartter syndrome.
    Wang C, Chen Y, Zheng B, Zhu M, Fan J, Wang J, Jia Z, Huang S, Zhang A.
    Am J Physiol Renal Physiol; 2018 Oct 01; 315(4):F844-F851. PubMed ID: 29442545
    [Abstract] [Full Text] [Related]

  • 60. Chloride channels in renal disease.
    Thakker RV.
    Adv Nephrol Necker Hosp; 1999 Oct 01; 29():289-98. PubMed ID: 10561751
    [Abstract] [Full Text] [Related]

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