|1|A novel CLCN5 mutation in a Chinese boy with Dent's disease. (25124980)
Ji L.N.... Cao L.
|2|Dent's disease complicated by an acute Budd-Chiari syndrome. (24398869)
Platt C.... Hartley J.L.
|3|Conformational defects underlie proteasomal degradation of Dent's disease-causing mutants of ClC-5. (23566014)
D'Antonio C.... Bear C.E.
|4|An atypical Dent's disease phenotype caused by co-inheritance of mutations at CLCN5 and OCRL genes. (23047739)
Addis M.... Anglani F.
|5|Vitamin A deficiency associated with urinary retinol binding protein wasting in Dent's disease. (22350370)
Becker-Cohen R.... Frishberg Y.
|6|Molecular effect of a novel missense mutation, L266V, on function of ClC-5 protein in a Japanese patient with Dent's disease. (23211344)
Ashida A.... Tamai H.
|7|The CLC-5 2Cl(-)/H(+) exchange transporter in endosomal function and Dent's disease. (23226131)
Lippiat J.D.... Smith A.J.
|8|Decreased renal accumulation of aminoglycoside reflects defective receptor-mediated endocytosis in cystic fibrosis and Dent's disease. (21927812)
Raggi C.... Terryn S.
|9|Dent's disease: clinical features and molecular basis. (20936522)
Claverie-MartA-n F.... GarcA-a-Nieto V.
|10|Dent's disease: chloride-proton exchange controls proximal tubule endocytosis. (20819956)
Devuyst O.... Thakker R.V.
|12|Vitamin A responsive night blindness in Dent's disease. (19444483)
Sethi S.K.... Bagga A.
|13|Mutational analysis of CLC-5, cofilin and CLC-4 in patients with Dent's disease. (19546591)
Wu F.... Thakker R.V.
|14|Dent's disease manifesting as focal glomerulosclerosis: Is it the tip of the iceberg? (19806368)
Frishberg Y.... Ben-Shalom E.
|15|Characterization of Dent's disease mutations of CLC-5 reveals a correlation between functional and cell biological consequences and protein structure. (19019917)
Smith A.J.... Lippiat J.D.
|16|Phenotype and genotype of Dent's disease in three Chinese boys. (19076289)
Li P.... Huang J.P.
|17|Hypophosphatemic rickets due to Dent's disease: A case report and review of literature. (20535254)
Annigeri R.A.... Rajagopalan R.
|18|From gene to disease; Dent's disease caused by abnormalities in the CLCN5 and OCRL1 genes]. (18019214)
Levtchenko E.N.... Knoers N.V.
|19|Functional characterization of a novel missense CLCN5 mutation causing alterations in proximal tubular endocytic machinery in Dent's disease. (18025833)
Tanuma A.... Saito A.
|20|Family history may be misleading in the diagnosis of Dent's disease. (16416111)
Anglani F.... Gambaro G.
|21|Phenotypic and genetic heterogeneity in Dent's disease -- the results of an Italian collaborative study. (16822791)
Tosetto E.... Anglani F.
|22|Dent's disease and prevalence of renal stones in dialysis patients in Northeastern Italy. (16247550)
Tosetto E.... Gambaro G.
|23|Citrate therapy in Dent's disease. (16688197)
|24|How Bartter's and Gitelman's syndromes, and Dent's disease have provided important insights into the function of three renal chloride channels: ClC-Ka/b and ClC-5. (16352917)
Briet M.... Blanchard A.
|25|Chloride channels and endocytosis: new insights from Dent's disease and ClC-5 knockout mice. (15637424)
Devuyst O.... Courtoy P.J.
|26|Phenotype and genotype of Dent's disease in three Korean boys. (15719255)
Cheong H.I.... Choi Y.
Neild G.H.... Wrong O.M.
|28|CLCN5 mutation (R347X) associated with hypokalaemic metabolic alkalosis in a Turkish child: an unusual presentation of Dent's disease. (15814539)
Besbas N.... Ludwig M.
|29|Chloride and sodium renal tubular handling in Dent's disease. (15912380)
AntA^n-Gamero M.... PAcrez-Navero J.L.
|30|The Alu insertion in the CLCN5 gene of a patient with Dent's disease leads to exon 11 skipping. (16041495)
Claverie-MartA-n F.... GarcA-a-Nieto V.
|31|Molecular and clinical studies of Dent's disease in Japan: biochemical examination and renal ultrasonography do not predict carrier state. (15125028)
Matsuyama T.... Igarashi T.
|32|Coexpression of complementary fragments of ClC-5 and restoration of chloride channel function in a Dent's disease mutation. (13679301)
Mo L.... Wills N.K.
|33|Dent's disease--a nephrolithiasis disorder associated with defective receptor-mediated endocytosis. (15615094)
|34|Chloride channels and endocytosis: new insights from Dent's disease and CLC-5 knockout mice. (15615095)
|35|A boy with Japanese Dent's disease exhibiting abnormal calcium metabolism and osseous disorder of the spine: defective megalin expression at the brushborder of renal proximal tubules. (15524062)
Yanagida H.... Takemura T.
|36|The ClC-5 knockout mouse model of Dent's disease has renal hypercalciuria and increased bone turnover. (12674322)
Silva I.V.... Guggino S.E.
|37|Dent's disease: hereditary nephrolithiasis related to defective tubular endocytosis processes]. (14732909)
Tosetto E.... Gambaro G.
|38|Novel truncating mutations in the ClC-5 chloride channel gene in patients with Dent's disease. (12637640)
Carballo-Trujillo I.... Claverie-Martin F.
|39|De novo insertion of an Alu sequence in the coding region of the CLCN5 gene results in Dent's disease. (14569459)
Claverie-Martin F.... GarcA-a-Nieto V.
Bald M.... Wingen A.M.
|41|Identification of two novel mutations in the CLCN5 gene in Japanese patients with familial idiopathic low molecular weight proteinuria (Japanese Dent's disease). (11136179)
Takemura T.... Yoshioka K.
|42|Molecular pathology of renal chloride channels in Dent's disease and Bartter's syndrome. (11014932)
|43|ClC-5 Cl- -channel disruption impairs endocytosis in a mouse model for Dent's disease. (11099045)
Piwon N.... Jentsch T.J.
|44|Characterization of renal chloride channel (CLCN5) mutations in Dent's disease. (10906159)
Yamamoto K.... Thakker R.V.
|45|Mice lacking renal chloride channel, CLC-5, are a model for Dent's disease, a nephrolithiasis disorder associated with defective receptor-mediated endocytosis. (11115837)
Wang S.S.... Guggino W.B.
|46|Dent's disease--the hypercalciuric variant of Fanconi's syndrome. (9748795)
KabA-cek P.... Bayer M.
|47|ClC-5, the chloride channel mutated in Dent's disease, colocalizes with the proton pump in endocytotically active kidney cells. (9653142)
GA1nther W.... Jentsch T.J.
|48|Hypercalciuria and nephrocalcinosis in patients with idiopathic low-molecular-weight proteinuria in Japan: is the disease identical to Dent's disease in United Kingdom? (7753256)
Igarashi T.... Akagi K.
|49|Isolation and partial characterization of a chloride channel gene which is expressed in kidney and is a candidate for Dent's disease (an X-linked hereditary nephrolithiasis). (7874126)
Fisher S.... Craig I.W.
|50|Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones, is associated with a microdeletion involving DXS255 and maps to Xp11.22. (8111383)
Pook M.A.... Thakker R.V.