BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

349 related articles for article (PubMed ID: 19546586)

  • 21. A common molecular basis for three inherited kidney stone diseases.
    Lloyd SE; Pearce SH; Fisher SE; Steinmeyer K; Schwappach B; Scheinman SJ; Harding B; Bolino A; Devoto M; Goodyer P; Rigden SP; Wrong O; Jentsch TJ; Craig IW; Thakker RV
    Nature; 1996 Feb; 379(6564):445-9. PubMed ID: 8559248
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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]  

  • 23. 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]  

  • 24. 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]  

  • 25. 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]  

  • 26. 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]  

  • 27. Tubular proteinuria defined by a study of Dent's (CLCN5 mutation) and other tubular diseases.
    Norden AG; Scheinman SJ; Deschodt-Lanckman MM; Lapsley M; Nortier JL; Thakker RV; Unwin RJ; Wrong O
    Kidney Int; 2000 Jan; 57(1):240-9. PubMed ID: 10620205
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Identification of a novel mutation in the CLCN5 gene in a Chinese family with Dent-1 disease.
    Zhang H; Wang C; Yue H; Hu WW; Gu JM; He JW; Fu WZ; Liu YJ; Zhang Z; Zhang ZL
    Nephrology (Carlton); 2014 Feb; 19(2):80-3. PubMed ID: 24428215
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Mutational analysis of CLC-5, cofilin and CLC-4 in patients with Dent's disease.
    Wu F; Reed AA; Williams SE; Loh NY; Lippiat JD; Christie PT; Large O; Bettinelli A; Dillon MJ; Goldraich NP; Hoppe B; Lhotta K; Loirat C; Malik R; Morel D; Kotanko P; Roussel B; Rubinger D; Schrander-Stumpel C; Serdaroglu E; Nesbit MA; Ashcroft F; Thakker RV
    Nephron Physiol; 2009; 112(4):p53-62. PubMed ID: 19546591
    [TBL] [Abstract][Full Text] [Related]  

  • 30. The long-term use of enalapril and hydrochlorothiazide in two novel mutations patients with Dent's disease type 1.
    Vaisbich MH; Henriques Ldos S; Igarashi T; Sekine T; Seki G; Koch VH
    J Bras Nefrol; 2012 Mar; 34(1):78-81. PubMed ID: 22441187
    [TBL] [Abstract][Full Text] [Related]  

  • 31. CLCN5 chloride-channel mutations in six new North American families with X-linked nephrolithiasis.
    Hoopes RR; Hueber PA; Reid RJ; Braden GL; Goodyer PR; Melnyk AR; Midgley JP; Moel DI; Neu AM; VanWhy SK; Scheinman SJ
    Kidney Int; 1998 Sep; 54(3):698-705. PubMed ID: 9734595
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Isolation and partial characterization of a chloride channel gene which is expressed in kidney and is a candidate for Dent's disease (an X-linked hereditary nephrolithiasis).
    Fisher SE; Black GC; Lloyd SE; Hatchwell E; Wrong O; Thakker RV; Craig IW
    Hum Mol Genet; 1994 Nov; 3(11):2053-9. PubMed ID: 7874126
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Altered polarity and expression of H+-ATPase without ultrastructural changes in kidneys of Dent's disease patients.
    Moulin P; Igarashi T; Van der Smissen P; Cosyns JP; Verroust P; Thakker RV; Scheinman SJ; Courtoy PJ; Devuyst O
    Kidney Int; 2003 Apr; 63(4):1285-95. PubMed ID: 12631345
    [TBL] [Abstract][Full Text] [Related]  

  • 34. [From gene to disease; Dent's disease caused by abnormalities in the CLCN5 and OCRL1 genes].
    Levtchenko EN; Monnens LA; Bökenkamp A; Knoers NV
    Ned Tijdschr Geneeskd; 2007 Oct; 151(43):2377-80. PubMed ID: 18019214
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. Functional evaluation of Dent's disease-causing mutations: implications for ClC-5 channel trafficking and internalization.
    Ludwig M; Doroszewicz J; Seyberth HW; Bökenkamp A; Balluch B; Nuutinen M; Utsch B; Waldegger S
    Hum Genet; 2005 Jul; 117(2-3):228-37. PubMed ID: 15895257
    [TBL] [Abstract][Full Text] [Related]  

  • 37. 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]  

  • 38. Clinical and genetic characteristics of Dent's disease type 1 in Europe.
    Burballa C; Cantero-Recasens G; Prikhodina L; Lugani F; Schlingmann K; Ananin PV; Besouw M; Bockenhauer D; Madariaga L; Bertholet-Thomas A; Taroni F; Parolin M; Conlon P; Emma F; Del Prete D; Chauveau D; Koster-Kamphuis L; Fila M; Pasini A; Castro I; Colussi G; Gil M; Mohidin B; Wlodkowski T; Schaefer F; Ariceta G;
    Nephrol Dial Transplant; 2023 May; 38(6):1497-1507. PubMed ID: 36441012
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Novel mutations of the CLCN5 gene including a complex allele and A 5' UTR mutation in Dent disease 1.
    Tosetto E; Ceol M; Mezzabotta F; Ammenti A; Peruzzi L; Caruso MR; Barbano G; Vezzoli G; Colussi G; Vergine G; Giordano M; Glorioso N; Degortes S; Soldati L; Sayer J; D'Angelo A; Anglani F
    Clin Genet; 2009 Oct; 76(4):413-6. PubMed ID: 19673950
    [No Abstract]   [Full Text] [Related]  

  • 40. 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]  

    [Previous]   [Next]    [New Search]
    of 18.