BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

200 related articles for article (PubMed ID: 12637640)

  • 1. Novel truncating mutations in the ClC-5 chloride channel gene in patients with Dent's disease.
    Carballo-Trujillo I; Garcia-Nieto V; Moya-Angeler FJ; Antón-Gamero M; Loris C; Méndez-Alvarez S; Claverie-Martin F
    Nephrol Dial Transplant; 2003 Apr; 18(4):717-23. PubMed ID: 12637640
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Renal chloride channel, CLCN5, mutations in Dent's disease.
    Cox JP; Yamamoto K; Christie PT; Wooding C; Feest T; Flinter FA; Goodyer PR; Leumann E; Neuhaus T; Reid C; Williams PF; Wrong O; Thakker RV
    J Bone Miner Res; 1999 Sep; 14(9):1536-42. PubMed ID: 10469281
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. Molecular and clinical studies of Dent's disease in Japan: biochemical examination and renal ultrasonography do not predict carrier state.
    Matsuyama T; Awazu M; Oikawa T; Inatomi J; Sekine T; Igarashi T
    Clin Nephrol; 2004 Apr; 61(4):231-7. PubMed ID: 15125028
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. De novo insertion of an Alu sequence in the coding region of the CLCN5 gene results in Dent's disease.
    Claverie-Martin F; González-Acosta H; Flores C; Antón-Gamero M; García-Nieto V
    Hum Genet; 2003 Nov; 113(6):480-5. PubMed ID: 14569459
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. Pathogenesis of Dent's disease and related syndromes of X-linked nephrolithiasis.
    Thakker RV
    Kidney Int; 2000 Mar; 57(3):787-93. PubMed ID: 10720930
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutations in CLCN5 chloride channel in Japanese patients with low molecular weight proteinuria.
    Morimoto T; Uchida S; Sakamoto H; Kondo Y; Hanamizu H; Fukui M; Tomino Y; Nagano N; Sasaki S; Marumo F
    J Am Soc Nephrol; 1998 May; 9(5):811-8. PubMed ID: 9596078
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Identification of two novel mutations in the CLCN5 gene in Japanese patients with familial idiopathic low molecular weight proteinuria (Japanese Dent's disease).
    Takemura T; Hino S; Ikeda M; Okada M; Igarashi T; Inatomi J; Yoshioka K
    Am J Kidney Dis; 2001 Jan; 37(1):138-143. PubMed ID: 11136179
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A missense mutation in the chloride/proton ClC-5 antiporter gene results in increased expression of an alternative mRNA form that lacks exons 10 and 11. Identification of seven new CLCN5 mutations in patients with Dent's disease.
    Ramos-Trujillo E; González-Acosta H; Flores C; García-Nieto V; Guillén E; Gracia S; Vicente C; Espinosa L; Maseda MAF; Santos F; Camacho JA; Claverie-Martín F
    J Hum Genet; 2007; 52(3):255-261. PubMed ID: 17262170
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Identification of a novel splice site mutation of CLCN5 gene and characterization of a new alternative 5' UTR end of ClC-5 mRNA in human renal tissue and leukocytes.
    Forino M; Graziotto R; Tosetto E; Gambaro G; D'Angelo A; Anglani F
    J Hum Genet; 2004; 49(1):53-60. PubMed ID: 14673707
    [TBL] [Abstract][Full Text] [Related]  

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

  • 19. Functional characterization of renal chloride channel, CLCN5, mutations associated with Dent'sJapan disease.
    Igarashi T; Günther W; Sekine T; Inatomi J; Shiraga H; Takahashi S; Suzuki J; Tsuru N; Yanagihara T; Shimazu M; Jentsch TJ; Thakker RV
    Kidney Int; 1998 Dec; 54(6):1850-6. PubMed ID: 9853249
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 10.