347 related articles for article (PubMed ID: 19546586)
1. 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]
2. 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]
3. 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]
4. 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]
5. Can we generate new hypotheses about Dent's disease from gene analysis of a mouse model?
Guggino SE
Exp Physiol; 2009 Feb; 94(2):191-6. PubMed ID: 18931044
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5).
Lloyd SE; Pearce SH; Günther W; Kawaguchi H; Igarashi T; Jentsch TJ; Thakker RV
J Clin Invest; 1997 Mar; 99(5):967-74. PubMed ID: 9062355
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Dent's disease.
Devuyst O; Thakker RV
Orphanet J Rare Dis; 2010 Oct; 5():28. PubMed ID: 20946626
[TBL] [Abstract][Full Text] [Related]
10. Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. [Dent's disease: hereditary nephrolithiasis related to defective tubular endocytosis processes].
Tosetto E; Anglani F; Graziotto R; Citron L; D'Angelo A; Gambaro G
G Ital Nefrol; 2003; 20(6):578-88. PubMed ID: 14732909
[TBL] [Abstract][Full Text] [Related]
14. Dent's disease--a nephrolithiasis disorder associated with defective receptor-mediated endocytosis.
Thakker R
Bull Mem Acad R Med Belg; 2004; 159(Pt 2):199-211. PubMed ID: 15615094
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. 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]
18. The ClC-5 chloride channel knock-out mouse - an animal model for Dent's disease.
Günther W; Piwon N; Jentsch TJ
Pflugers Arch; 2003 Jan; 445(4):456-62. PubMed ID: 12548389
[TBL] [Abstract][Full Text] [Related]
19. Chloride channels and endocytosis: new insights from Dent's disease and CLC-5 knockout mice.
Devuyst O
Bull Mem Acad R Med Belg; 2004; 159(Pt 2):212-7. PubMed ID: 15615095
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]