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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. Fisher SE, et al. Genomics. 1995 Oct 10;29(3):598-606. doi: 10.1006/geno.1995.9960. Genomics. 1995. PMID: 8575751
Dent disease, an X-linked familial renal tubular disorder, is a form of Fanconi syndrome associated with proteinuria, hypercalciuria, nephrocalcinosis, kidney stones, and eventual renal failure. We have previously used positional cloning to identify the 3' part of a novel …
Dent disease, an X-linked familial renal tubular disorder, is a form of Fanconi syndrome associated with proteinuria, hypercalciuria, nephro …
Can we generate new hypotheses about Dent's disease from gene analysis of a mouse model?
Guggino SE. Guggino SE. Exp Physiol. 2009 Feb;94(2):191-6. doi: 10.1113/expphysiol.2008.044586. Epub 2008 Oct 17. Exp Physiol. 2009. PMID: 18931044 Free article.
Previous studies by the Johns Hopkins group (Guggino) and the Hamburg group (Jentsch) have established that the Clcn5 knockout mouse recapitulates the renal attributes of Dent's disease. In order to understand the changes in kidney function that accompany the knockout of t …
Previous studies by the Johns Hopkins group (Guggino) and the Hamburg group (Jentsch) have established that the Clcn5 knockout mouse recapit …