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Results: 1 to 20 of 151

Similar articles for PubMed (Select 20936522)

1.

Dent's disease: clinical features and molecular basis.

Claverie-Martín F, Ramos-Trujillo E, García-Nieto V.

Pediatr Nephrol. 2011 May;26(5):693-704. doi: 10.1007/s00467-010-1657-0. Epub 2010 Oct 10.

PMID:
20936522
2.

Dent's disease.

Devuyst O, Thakker RV.

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

3.

A novel CLCN5 mutation in a Chinese boy with Dent's disease.

Ji LN, Chen CY, Wang JJ, Cao L.

World J Pediatr. 2014 Aug;10(3):275-7. doi: 10.1007/s12519-014-0504-y. Epub 2014 Aug 15.

PMID:
25124980
4.

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. doi: 10.1007/s00467-009-1228-4. Epub 2009 Jul 7.

PMID:
19582483
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. doi: 10.1113/expphysiol.2008.044586. Epub 2008 Oct 17.

6.

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.

PMID:
18184518
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.

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
9.

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
10.

Chloride channels and endocytosis: new insights from Dent's disease and ClC-5 knockout mice.

Devuyst O, Jouret F, Auzanneau C, Courtoy PJ.

Nephron Physiol. 2005;99(3):p69-73. Review.

11.
12.

An atypical Dent's disease phenotype caused by co-inheritance of mutations at CLCN5 and OCRL genes.

Addis M, Meloni C, Tosetto E, Ceol M, Cristofaro R, Melis MA, Vercelloni P, Del Prete D, Marra G, Anglani F.

Eur J Hum Genet. 2013 Jun;21(6):687-90. doi: 10.1038/ejhg.2012.225. Epub 2012 Oct 10.

13.

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
14.

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.

15.

[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
16.

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.

17.

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
18.

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. Epub 2006 Jul 5.

19.

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.

20.

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
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