Dent disease presenting as partial Fanconi syndrome and hypercalciuria.

[1]  Lawrence Copelovitch,et al.  Published online ahead of print. Publication date available at www.cjasn.org. , 2007 .

[2]  L. Monnens,et al.  Recent advances in understanding the clinical and genetic heterogeneity of Dent's disease. , 2006, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

[3]  M. Ludwig,et al.  Hypercalciuria in patients with CLCN5 mutations , 2006, Pediatric Nephrology.

[4]  J. Sayer,et al.  Disruption of clc-5 leads to a redistribution of annexin A2 and promotes calcium crystal agglomeration in collecting duct epithelial cells , 2006, Cellular and Molecular Life Sciences CMLS.

[5]  O. Devuyst,et al.  High citrate diet delays progression of renal insufficiency in the ClC-5 knockout mouse model of Dent's disease. , 2005, Kidney international.

[6]  T. Jentsch,et al.  Voltage-dependent electrogenic chloride/proton exchange by endosomal CLC proteins , 2005, Nature.

[7]  S. Waldegger,et al.  Functional evaluation of Dent’s disease-causing mutations: implications for ClC-5 channel trafficking and internalization , 2005, Human Genetics.

[8]  April M. Koich,et al.  Evidence for genetic heterogeneity in Dent's disease. , 2004, Kidney international.

[9]  R. Thakker,et al.  Characterization of carrier females and affected males with X-linked recessive nephrolithiasis , 1996, Pediatric Nephrology.

[10]  P. Courtoy,et al.  Altered polarity and expression of H+-ATPase without ultrastructural changes in kidneys of Dent's disease patients. , 2003, Kidney international.

[11]  R. Ploutz-Snyder,et al.  Responsiveness of hypercalciuria to thiazide in Dent's disease. , 2002, Journal of the American Society of Nephrology : JASN.

[12]  Yanshu Wang,et al.  Mice lacking renal chloride channel, CLC-5, are a model for Dent's disease, a nephrolithiasis disorder associated with defective receptor-mediated endocytosis. , 2000, Human molecular genetics.

[13]  Thomas J. Jentsch,et al.  ClC-5 Cl--channel disruption impairs endocytosis in a mouse model for Dent's disease , 2000, Nature.

[14]  R. Thakker.  Pathogenesis of Dent's disease and related syndromes of X-linked nephrolithiasis. , 2000, Kidney international.

[15]  P. Courtoy,et al.  Intra-renal and subcellular distribution of the human chloride channel, CLC-5, reveals a pathophysiological basis for Dent's disease. , 1999, Human molecular genetics.

[16]  T. Jentsch,et al.  ClC-5, the chloride channel mutated in Dent's disease, colocalizes with the proton pump in endocytotically active kidney cells. , 1998, Proceedings of the National Academy of Sciences of the United States of America.

[17]  S. Scheinman.  X-linked hypercalciuric nephrolithiasis: clinical syndromes and chloride channel mutations. , 1998, Kidney international.

[18]  F. Endo,et al.  Mutations in the CLCN5 gene in Japanese patients with familial idiopathic low-molecular-weight proteinuria. , 1997, Kidney international.

[19]  M. Devoto,et al.  A common molecular basis for three inherited kidney stone diseases , 1996, Nature.

[20]  S. Fisher,et al.  Cloning and characterization of CLCN5, the human kidney chloride channel gene implicated in Dent disease (an X-linked hereditary nephrolithiasis). , 1995, Genomics.

[21]  T. Feest,et al.  Dent's disease; a familial proximal renal tubular syndrome with low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, metabolic bone disease, progressive renal failure and a marked male predominance. , 1994, QJM : monthly journal of the Association of Physicians.

[22]  R. Thakker,et al.  Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies. , 1993, The Journal of clinical investigation.

[23]  P. Dunham,et al.  X-linked recessive nephrolithiasis with renal failure. , 1991, The New England journal of medicine.

[24]  C. Dent,et al.  Hypercalcuric Rickets Associated with Renal Tubular Damage , 1964, Archives of disease in childhood.