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Items: 1 to 20 of 160

1.

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
3.

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
4.
5.

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.

6.
7.

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.

PMID:
12637640
8.

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.

9.

Molecular cloning, expression pattern, and chromosomal localization of human CDKN2D/INK4d, an inhibitor of cyclin D-dependent kinases.

Okuda T, Hirai H, Valentine VA, Shurtleff SA, Kidd VJ, Lahti JM, Sherr CJ, Downing JR.

Genomics. 1995 Oct 10;29(3):623-30.

PMID:
8575754
10.

Characterisation of renal chloride channel, CLCN5, mutations in hypercalciuric nephrolithiasis (kidney stones) disorders.

Lloyd SE, Gunther W, Pearce SH, Thomson A, Bianchi ML, Bosio M, Craig IW, Fisher SE, Scheinman SJ, Wrong O, Jentsch TJ, Thakker RV.

Hum Mol Genet. 1997 Aug;6(8):1233-9.

PMID:
9259268
11.

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 MA, Santos F, Camacho JA, Claverie-Martín F.

J Hum Genet. 2007;52(3):255-61. Epub 2007 Jan 30.

PMID:
17262170
12.

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
13.

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.

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.

15.

A new approach to mRNA in proximal tubule cells of patients with CLCN5 channelopathy.

Morimoto T, Chiba A, Kondo Y, Takahashi S, Igarashi T, Inoue CN, Iinuma K.

Pediatr Nephrol. 2001 Feb;16(2):110-2.

PMID:
11261675
16.
17.

[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
18.
19.

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
20.

The Alu insertion in the CLCN5 gene of a patient with Dent's disease leads to exon 11 skipping.

Claverie-Martín F, Flores C, Antón-Gamero M, González-Acosta H, García-Nieto V.

J Hum Genet. 2005;50(7):370-4. Epub 2005 Jul 23.

PMID:
16041495

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