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Journal Abstract Search

255 related items for PubMed ID: 29058463

  • 1. Genetic Analysis of Dent's Disease and Functional Research of CLCN5 Mutations.
    Zhang Y, Fang X, Xu H, Shen Q.
    DNA Cell Biol; 2017 Dec; 36(12):1151-1158. PubMed ID: 29058463
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  • 2. Locus heterogeneity of Dent's disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations.
    Tosetto E, Addis M, Caridi G, Meloni C, Emma F, Vergine G, Stringini G, Papalia T, Barbano G, Ghiggeri GM, Ruggeri L, Miglietti N, D Angelo A, Melis MA, Anglani F.
    Pediatr Nephrol; 2009 Oct; 24(10):1967-73. PubMed ID: 19582483
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  • 3. Dent's disease.
    Devuyst O, Thakker RV.
    Orphanet J Rare Dis; 2010 Oct 14; 5():28. PubMed ID: 20946626
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  • 4. An atypical Dent's disease phenotype caused by co-inheritance of mutations at CLCN5 and OCRL genes.
    Addis M, Meloni C, Tosetto E, Ceol M, Cristofaro R, Melis MA, Vercelloni P, Del Prete D, Marra G, Anglani F.
    Eur J Hum Genet; 2013 Jun 14; 21(6):687-90. PubMed ID: 23047739
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  • 9. A pure chloride channel mutant of CLC-5 causes Dent's disease via insufficient V-ATPase activation.
    Satoh N, Yamada H, Yamazaki O, Suzuki M, Nakamura M, Suzuki A, Ashida A, Yamamoto D, Kaku Y, Sekine T, Seki G, Horita S.
    Pflugers Arch; 2016 Jul 14; 468(7):1183-1196. PubMed ID: 27044412
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  • 12. Truncating mutations in the chloride/proton ClC-5 antiporter gene in Seven Jewish Israeli families with Dent's 1 disease.
    Dinour D, Davidovitz M, Levin-Iaina N, Lotan D, Cleper R, Weissman I, Knecht A, Holtzman EJ.
    Nephron Clin Pract; 2009 Jul 14; 112(4):c262-7. PubMed ID: 19546586
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  • 13. A Study on the CLCN5 Gene in Iranian Patients: A Report of Novel and Recurrent Mutations.
    Mollataheri A, Mojbafan M, Hosseini R, Houman N, Mousavi M, Otoukesh H.
    Nephron; 2023 Jul 14; 147(8):470-477. PubMed ID: 36646056
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  • 15. Characterization of renal chloride channel (CLCN5) mutations in Dent's disease.
    Yamamoto K, Cox JPDT, Friedrich T, Christie PT, Bald M, Houtman PN, Lapsley MJ, Patzer L, Tsimaratos M, Van't Hoff WG, Yamaoka K, Jentsch TJ, Thakker RV.
    J Am Soc Nephrol; 2000 Aug 14; 11(8):1460-1468. PubMed ID: 10906159
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  • 16. [Clinical and genetic analysis of Dent' s disease in 6 Chinese children with low molecular weight proteinuria].
    Zhu BZ, Li P, Huang JP.
    Zhonghua Er Ke Za Zhi; 2010 May 14; 48(5):329-33. PubMed ID: 20654030
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  • 17. A novel mutation of Dent's disease in an 11-year-old male with nephrolithiasis and nephrocalcinosis.
    Sancakli O, Kulu B, Sakallioglu O.
    Arch Argent Pediatr; 2018 Jun 01; 116(3):e442-e444. PubMed ID: 29756720
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  • 18. Phenotypic and genetic heterogeneity in Dent's disease--the results of an Italian collaborative study.
    Tosetto E, Ghiggeri GM, Emma F, Barbano G, Carrea A, Vezzoli G, Torregrossa R, Cara M, Ripanti G, Ammenti A, Peruzzi L, Murer L, Ratsch IM, Citron L, Gambaro G, D'angelo A, Anglani F.
    Nephrol Dial Transplant; 2006 Sep 01; 21(9):2452-63. PubMed ID: 16822791
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