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Items: 1 to 20 of 152

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.

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.

PMID:
10916075
4.

Pathogenesis of Dent's disease and related syndromes of X-linked nephrolithiasis.

Thakker RV.

Kidney Int. 2000 Mar;57(3):787-93. Review.

PMID:
10720930
5.

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
6.
7.

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.

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.

PMID:
15125028
9.

Evidence for genetic heterogeneity in Dent's disease.

Hoopes RR Jr, Raja KM, Koich A, Hueber P, Reid R, Knohl SJ, Scheinman SJ.

Kidney Int. 2004 May;65(5):1615-20.

PMID:
15086899
10.
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.

12.

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.

13.

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
14.

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
15.

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
16.

Isolated hypercalciuria with mutation in CLCN5: relevance to idiopathic hypercalciuria.

Scheinman SJ, Cox JP, Lloyd SE, Pearce SH, Salenger PV, Hoopes RR, Bushinsky DA, Wrong O, Asplin JR, Langman CB, Norden AG, Thakker RV.

Kidney Int. 2000 Jan;57(1):232-9.

PMID:
10620204
17.

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.

18.

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
19.

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
20.

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.

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