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Items: 1 to 20 of 22

1.

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
2.
3.

[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
4.

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. Epub 2002 Nov 29. Review.

PMID:
12548389
5.

Chloride channels in renal disease.

Thakker RV.

Adv Nephrol Necker Hosp. 1999;29:289-98. Review.

PMID:
10561751
6.

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. Review.

PMID:
15615094
7.

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
8.

Nephrolithiasis.

Scheinman SJ.

Semin Nephrol. 1999 Jul;19(4):381-8. Review.

PMID:
10435676
9.

Molecular pathology of renal chloride channels in Dent's disease and Bartter's syndrome.

Thakker RV.

Exp Nephrol. 2000 Nov-Dec;8(6):351-60. Review.

PMID:
11014932
10.

The role of renal chloride channel mutations in kidney stone disease and nephrocalcinosis.

Thakker RV.

Curr Opin Nephrol Hypertens. 1998 Jul;7(4):385-8. Review.

PMID:
9690036
11.

Genetic causes of hypercalciuric nephrolithiasis.

Stechman MJ, Loh NY, Thakker RV.

Pediatr Nephrol. 2009 Dec;24(12):2321-32. doi: 10.1007/s00467-008-0807-0. Epub 2008 Apr 30. Review.

12.

Dent's disease.

Devuyst O, Thakker RV.

Orphanet J Rare Dis. 2010 Oct 14;5:28. doi: 10.1186/1750-1172-5-28. Review.

13.
14.

Genetics of hypercalciuric nephrolithiasis: renal stone disease.

Stechman MJ, Loh NY, Thakker RV.

Ann N Y Acad Sci. 2007 Nov;1116:461-84. Epub 2007 Sep 13. Review.

PMID:
17872384
15.

ClC-5 mutations associated with Dent's disease: a major role of the dimer interface.

Lourdel S, Grand T, Burgos J, González W, Sepúlveda FV, Teulon J.

Pflugers Arch. 2012 Feb;463(2):247-56. doi: 10.1007/s00424-011-1052-0. Epub 2011 Nov 15. Review.

PMID:
22083641
16.

[Inherited monogenic kidney stone diseases: recent diagnostic and therapeutic advances].

Jungers P, Joly D, Blanchard A, Courbebaisse M, Knebelmann B, Daudon M.

Nephrol Ther. 2008 Jul;4(4):231-55. doi: 10.1016/j.nephro.2007.12.005. Epub 2008 May 22. Review. French.

PMID:
18499551
17.

Role of ClC-5 in the pathogenesis of hypercalciuria: recent insights from transgenic mouse models.

Yu AS.

Curr Opin Nephrol Hypertens. 2001 May;10(3):415-20. Review.

PMID:
11342807
18.

[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 27;151(43):2377-80. Review. Dutch.

PMID:
18019214
19.

X-linked hypercalciuric nephrolithiasis: clinical syndromes and chloride channel mutations.

Scheinman SJ.

Kidney Int. 1998 Jan;53(1):3-17. Review. No abstract available.

20.

ClC-5 chloride channel and kidney stones: what is the link?

Silva IV, Morales MM, Lopes AG.

Braz J Med Biol Res. 2001 Mar;34(3):315-23. Review.

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