OCRL1 mutations in patients with Dent disease phenotype in Japan

[1]  V. Tasic,et al.  Novel OCRL1 mutations in patients with the phenotype of Dent disease. , 2006, American journal of kidney diseases : the official journal of the National Kidney Foundation.

[2]  M. Lowe Structure and Function of the Lowe Syndrome Protein OCRL1 , 2005, Traffic.

[3]  Michael Pusch,et al.  Chloride/proton antiporter activity of mammalian CLC proteins ClC-4 and ClC-5 , 2005, Nature.

[4]  R. Nussbaum,et al.  Dent Disease with mutations in OCRL1. , 2005, American journal of human genetics.

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

[6]  M. Loi,et al.  OCRLMutation analysis in Italian patients with Lowe syndrome , 2004, Human mutation.

[7]  B. Payrastre,et al.  Phosphoinositide signaling disorders in human diseases , 2003, FEBS letters.

[8]  P. Courtoy,et al.  Loss of chloride channel ClC-5 impairs endocytosis by defective trafficking of megalin and cubilin in kidney proximal tubules , 2003, Proceedings of the National Academy of Sciences of the United States of America.

[9]  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.

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

[11]  R. Thakker,et al.  Clinical and genetic studies of CLCN5 mutations in Japanese families with Dent's disease. , 2000, Kidney international.

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

[13]  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.

[14]  R. Nussbaum,et al.  Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice. , 1998, The Journal of clinical investigation.

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

[16]  R. Thakker,et al.  Mutations of CLCN5 in Japanese children with idiopathic low molecular weight proteinuria, hypercalciuria and nephrocalcinosis. , 1997, Kidney international.

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

[18]  P. Majerus,et al.  The protein deficient in Lowe syndrome is a phosphatidylinositol-4,5-bisphosphate 5-phosphatase. , 1995, Proceedings of the National Academy of Sciences of the United States of America.

[19]  R. Nussbaum,et al.  The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase , 1992, Nature.