BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

250 related articles for article (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
    [TBL] [Abstract][Full Text] [Related]  

  • 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
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Dent's disease.
    Devuyst O; Thakker RV
    Orphanet J Rare Dis; 2010 Oct; 5():28. PubMed ID: 20946626
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 21(6):687-90. PubMed ID: 23047739
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Dent's disease: clinical features and molecular basis.
    Claverie-Martín F; Ramos-Trujillo E; García-Nieto V
    Pediatr Nephrol; 2011 May; 26(5):693-704. PubMed ID: 20936522
    [TBL] [Abstract][Full Text] [Related]  

  • 6. ClC-5 mutations associated with Dent's disease: a major role of the dimer interface.
    Lourdel S; Grand T; Burgos J; González W; Sepúlveda FV; Teulon J
    Pflugers Arch; 2012 Feb; 463(2):247-56. PubMed ID: 22083641
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A novel CLCN5 mutation in a Chinese boy with Dent's disease.
    Ji LN; Chen CY; Wang JJ; Cao L
    World J Pediatr; 2014 Aug; 10(3):275-7. PubMed ID: 25124980
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Phenotype and genotype of Dent's disease in three Chinese boys.
    Li P; Huang JP
    Nephrology (Carlton); 2009 Apr; 14(2):139-42. PubMed ID: 19076289
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 468(7):1183-1196. PubMed ID: 27044412
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Evidence for genetic heterogeneity in Dent's disease.
    Hoopes RR; Raja KM; Koich A; Hueber P; Reid R; Knohl SJ; Scheinman SJ
    Kidney Int; 2004 May; 65(5):1615-20. PubMed ID: 15086899
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Four additional CLCN5 exons encode a widely expressed novel long CLC-5 isoform but fail to explain Dent's phenotype in patients without mutations in the short variant.
    Ludwig M; Waldegger S; Nuutinen M; Bökenkamp A; Reissinger A; Steckelbroeck S; Utsch B
    Kidney Blood Press Res; 2003; 26(3):176-84. PubMed ID: 12886045
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 112(4):c262-7. PubMed ID: 19546586
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 147(8):470-477. PubMed ID: 36646056
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Clinical and genetic studies of CLCN5 mutations in Japanese families with Dent's disease.
    Igarashi T; Inatomi J; Ohara T; Kuwahara T; Shimadzu M; Thakker RV
    Kidney Int; 2000 Aug; 58(2):520-7. PubMed ID: 10916075
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 11(8):1460-1468. PubMed ID: 10906159
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 48(5):329-33. PubMed ID: 20654030
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 116(3):e442-e444. PubMed ID: 29756720
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 21(9):2452-63. PubMed ID: 16822791
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Molecular analysis of the CLCN5 gene in Dent's disease: first mutation identified in a patient from South America.
    Ramos-Trujillo E; Garcia-Nieto V; Gonzalez-Acosta H; Vara J; Pérez-Diaz V; Nadal I; Oliveros R; Claverie-Martin F
    Clin Nephrol; 2007 Dec; 68(6):367-72. PubMed ID: 18184518
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Clinical characteristics and molecular genetics of Dent's disease: an update].
    Zhang J; Xia ZK
    Zhonghua Er Ke Za Zhi; 2012 Dec; 50(12):909-12. PubMed ID: 23324147
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 13.