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Items: 1 to 20 of 106

1.
2.

Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones, is associated with a microdeletion involving DXS255 and maps to Xp11.22.

Pook MA, Wrong O, Wooding C, Norden AG, Feest TG, Thakker RV.

Hum Mol Genet. 1993 Dec;2(12):2129-34.

PMID:
8111383
3.

Cloning and characterization of CLCN5, the human kidney chloride channel gene implicated in Dent disease (an X-linked hereditary nephrolithiasis).

Fisher SE, van Bakel I, Lloyd SE, Pearce SH, Thakker RV, Craig IW.

Genomics. 1995 Oct 10;29(3):598-606.

PMID:
8575751
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.

6.

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.

7.
8.

[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 Nov-Dec;20(6):578-88. Review. Italian.

PMID:
14732909
9.

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 1;379(6564):445-9.

PMID:
8559248
10.

Characterization of renal chloride channel (CLCN5) mutations in Dent's disease.

Yamamoto K, Cox JP, 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):1460-8.

11.

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. Epub 2003 Aug 29.

PMID:
14569459
12.

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.

PMID:
15125028
13.

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. Review.

PMID:
15615095
14.

Intra-renal and subcellular distribution of the human chloride channel, CLC-5, reveals a pathophysiological basis for Dent's disease.

Devuyst O, Christie PT, Courtoy PJ, Beauwens R, Thakker RV.

Hum Mol Genet. 1999 Feb;8(2):247-57.

15.

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.

PMID:
12886045
16.

Phenotype and genotype of Dent's disease in three Chinese boys.

Li P, Huang JP.

Nephrology (Carlton). 2009 Apr;14(2):139-42. doi: 10.1111/j.1440-1797.2008.01057.x.

PMID:
19076289
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. Epub 2003 Dec 13.

PMID:
14673707
18.

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. doi: 10.1159/000224793. Epub 2009 Jun 16.

PMID:
19546586
19.

Isolation and characterization of a candidate gene for Norrie disease.

Chen ZY, Hendriks RW, Jobling MA, Powell JF, Breakefield XO, Sims KB, Craig IW.

Nat Genet. 1992 Jun;1(3):204-8.

PMID:
1303236
20.

Mice lacking renal chloride channel, CLC-5, are a model for Dent's disease, a nephrolithiasis disorder associated with defective receptor-mediated endocytosis.

Wang SS, Devuyst O, Courtoy PJ, Wang XT, Wang H, Wang Y, Thakker RV, Guggino S, Guggino WB.

Hum Mol Genet. 2000 Dec 12;9(20):2937-45.

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