Results 151 to 160 of about 2,184 (189)

Low molecular weight ('tubular') proteinuria in patients with mutations of the CLCN5 renal chloride channel gene.

, 2016
Norden, A, Asplin, J, Deschodt-Lanckman, M, Langman, C, Lapsley, M, Nortier, J, Scheinman, S, Thakker, R, Unwin, R, Wrong, O   +9 more
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A Drosophila model for Dent’s disease reveals impaired ER export of Cubilin as pathogenic mechanism

Christer S, Marelja Z, Hauschild H, Berquez M, Dibra I, Gandhi H, Shih Y, Helmstädter M, Devuyst O, Simons M.   +9 more
europepmc   +1 more source

Clcn5遺伝子の標的破壊を持つキメラマウスの作成(Production of the chimaeric mice carrying targeting disruption in the Clcn5 gene)

Clcn5遺伝子の標的破壊を持つキメラマウスの作成(Production of the chimaeric mice carrying targeting disruption in the Clcn5 gene)
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A second family with XLRH displays the mutation S244L in the CLCN5 gene

Human Genetics, 1997
Mutations in the CLCN5 gene, mapped in Xp11.22, have been recently reported to be associated with X-linked nephrolithiasis, X-linked recessive hypophosphataemic rickets and Dent's disease. We report a missense mutation in exon 6 of the CLCN5 gene. The mutation in this pedigree is S244L, the same mutation as has previously been described in an Italian ...
C, Oudet, D, Martin-Coignard, S, Pannetier, E, Praud, G, Champion, A, Hanauer   +5 more
openaire   +4 more sources

De novo insertion of an Alu sequence in the coding region of the CLCN5 gene results in Dent's disease

Human Genetics, 2003
Dent's disease is an X-linked renal tubular disorder characterized by low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, and eventual renal failure. Various types of mutations in the renal chloride channel gene, CLCN5, have been identified in patients with this disease.
Felix, Claverie-Martin, Hilaria, González-Acosta, Carlos, Flores, Montserrat, Antón-Gamero, Víctor, García-Nieto   +4 more
openaire   +4 more sources

A Study on the CLCN5 Gene in Iranian Patients: A Report of Novel and Recurrent Mutations

Nephron, 2023
Introduction: Dent’s disease is an X-linked inherited renal tubular disorder characterized by proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, rickets, and end-stage renal disease. Almost 60% of patients have causative mutations in the CLCN5 gene (Dent 1), and 15% of affected individuals have mutations in the OCRL1 gene (Dent 2).
Ali Mollataheri, Marzieh Mojbafan, Rozita Hosseini, Nakisa Houman, Mohammad Mousavi, Hasan Otoukesh   +5 more
openaire   +2 more sources

Locus heterogeneity of Dent’s disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations

Pediatric Nephrology, 2009
Dent's disease is an X-linked renal tubulopathy caused by mutations mainly affecting the CLCN5 gene. Defects in the OCRL1 gene, which is usually mutated in patients with Lowe syndrome, have recently been shown to lead to a Dent-like phenotype, called Dent's disease 2. About 25% of Dent's disease patients do not carry CLCN5/OCRL1 mutations.
TOSETTO E, ADDIS, MARIA, CARIDI G, MELONI, CRISTIANA, EMMA F, VERGINE G, STRINGINI G, PAPALIA T, BARBANO G, GHIGGERI GM, RUGGERI L, MIGLIETTI N, D. ANGELO A, MELIS MA, ANGLANI F.   +14 more
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Renal Expression of CLC-5 and Megalin/Cubilin in Dent-1 Disease With Nonsense Mutations of CLCN5 Gene

Pediatric and Developmental Pathology, 2022
The study aims to explore the clinicopathological features and whether the nonsense mutations of CLCN5 gene have effect on the renal expression of CLC-5 protein and megalin/cubilin complex in children with Dent-1 disease. The clinicopathological features and genetic examination of three patients with Dent-1 disease were investigated. The expression of
Panpan, Zhai, Weigang, Lv, Xiaoqing, Yang, Yanjie, Huang, Wensheng, Zhai, Xianqing, Ren, Xia, Zhang, Meng, Yang, Jian, Zhang, Ting, Guo, Minghui, Bai, Yueli, Yang, Ying, Ding, Yanshi, Huang   +13 more
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[From gene to disease; Dent's disease caused by abnormalities in the CLCN5 and OCRL1 genes].

Nederlands tijdschrift voor geneeskunde, 2007
Contains fulltext : 53068.pdf (Publisher’s version ) (Closed access)
Levtchenko, E.N., Monnens, L.A.H., Bokenkamp, A., Knoers, N.V.A.M.   +3 more
openaire   +2 more sources