Results 21 to 30 of about 1,497 (161)

An overview of Dent disease [PDF]

Childhood Kidney Diseases, 2023
Dent disease is a rare inherited kidney tubulopathy caused by mutations in either the CLCN5 (Dent disease 1) or OCRL1 (Dent disease 2) genes, and which is often underdiagnosed in practice.
Eun Mi Yang, Seong Hwan Chang
doaj   +1 more source

A novel CLCN5 frame shift mutation responsible for Dent disease 1: Case report

Frontiers in Pediatrics, 2022
BackgroundDent disease is a group of inherited X-linked recessive renal tubular disorders. This group of disorders is characterized by low molecular weight proteinuria (LMWP), nephrocalcinosis, hypercalciuria and renal failure.Case presentationHere we ...
Jiajia Ni, Yaju Zhu, Fujun Lin, Wenbin Guan, Jing Jin, Yufeng Li, Guimei Guo   +6 more
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Establishment of an induced pluripotent stem cell line (WMUi016-A) from a patient with X-linked Dent disease (X-Dent) carrying the hemizygote mutation p.R718* (c.2152C > T) in the CLCN5 gene

Stem Cell Research, 2021
The gene mutations of the chloride channel gene (CLCN5) can lead to the inherited X-linked Dent disease (X-Dent). The urine cells of a 4-year-old male X-Dent patient with the hemizygous CLCN5 gene mutation p.R718* (c.2152C > T) were reprogrammed into ...
Huihui Chen, Yinjuan Ding, Weizhong Zhou, Jiajia Li, Weite Qian, Zhe Zhang, Chao Li, Hongfei Tong, Xing Rong, Maoping Chu, Congde Chen, Dexuan Wang, Xiaoling Guo   +12 more
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Lentiviral vector mediated gene therapy for type I Dent disease ameliorates Dent disease-like phenotypes for three months in ClC-5 null mice

Molecular Therapy: Methods & Clinical Development, 2022
Type 1 Dent disease is caused by changes in chloride voltage-gated channel 5 (CLCN5) gene on chromosome X, which causes the lack or dysfunction of chloride channel ClC-5.
Manish Kumar Yadav, Kyung Whan Yoo, Anthony Atala, Baisong Lu   +3 more
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Establishment of an induced pluripotent stem cell line (NCKDi003-A) from a patient with X-linked Dent disease (X-Dent) carrying the hemizygote mutation p. T277P (c. 829A > C) in the CLCN5 gene

Stem Cell Research, 2021
Dent disease (DD) is a rare X-linked proximal tubulopathy associated with low molecular weight proteinuria (LMWP), hypercalciuria, nephrolithiasis and phosphoruria, which may progress to chronic kidney disease (CKD).
Lidan Hu, Gang Wang, Hangdi Wu, Haidong Fu, Yan Wang, Fan Yu, Zhihong Liu, Jianhua Mao   +7 more
doaj   +1 more source

Renal Chloride Channel, CLCN5, Mutations in Dent's Disease [PDF]

Journal of Bone and Mineral Research, 1999
Abstract Dent's disease is an X-linked renal tubular disorder characterized by low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, and renal failure. Patients with Dent's disease may also suffer from rickets and other features of the renal Fanconi Syndrome.
Cox, J, Yamamoto, K, Christie, P, Wooding, C, Feest, T, Flinter, F, Goodyer, P, Leumann, E, Neuhaus, T, Reid, C, Williams, P, Wrong, O, Thakker, R   +12 more
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Case report: a Chinese girl with dent disease 1 and turner syndrome due to a hemizygous CLCN5 gene mutation and Isochromosome (Xq)

BMC Nephrology, 2020
Background Female Dent disease 1 patients with low-molecular-weight proteinuria (LMWP) due to CLCN5 gene mutation were rarely reported, and these cases that the people were also with Turner syndrome (TS) were even hardly documented before.
Yuhong Ye, Jingjing Wang, Xiaofang Quan, Ke Xu, Haidong Fu, Weiyue Gu, Jianhua Mao   +6 more
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Isolated hypercalciuria with mutation in CLCN5: Relevance to idiopathic hypercalciuria [PDF]

Kidney International, 2000
Isolated hypercalciuria with mutation in CLCN5: Relevance to idiopathic hypercalciuria.Idiopathic hypercalciuria (IH) is the most common risk factor for kidney stones and often has a genetic component. Dent's disease (X-linked nephrolithiasis) is associated with mutations in the CLCN5 chloride channel gene, and low molecular weight (LMW) proteinuria ...
Scheinman, S, Cox, J, Lloyd, SE, Pearce, S, Salenger, P, Hoopes, R, Bushinsky, D, Wrong, O, Asplin, JR, Langman, C, Norden, A, Thakker, R   +11 more
openaire   +3 more sources

Mutation Update of theCLCN5Gene Responsible for Dent Disease 1 [PDF]

Human Mutation, 2015
Dent disease is a rare X-linked tubulopathy characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis and/or nephrolithiasis, progressive renal failure, and variable manifestations of other proximal tubule dysfunctions.
Mansour-Hendili, Lamisse, Blanchard, Anne, Le Pottier, Nelly, Roncelin, Isabelle, Lourdel, Stéphane, Treard, Cyrielle, González, Wendy, Vergara-Jaque, Ariela, Morin, Gilles, Colin, Estelle, Holder-Espinasse, Muriel, Bacchetta, Justine, Baudouin, Véronique, Benoit, Stéphane, Bérard, Etienne, Bourdat-Michel, Guylhène, Bouchireb, Karim, Burtey, Stéphane, Cailliez, Mathilde, Cardon, Gérard, Cartery, Claire, Champion, Gerard, Chauveau, Dominique, Cochat, Pierre, Dahan, Karin, de La Faille, Renaud, Debray, François-Guillaume, Dehoux, Laurenne, Deschênes, Georges, Desport, Estelle, Devuyst, Olivier, Dieguez, Stella, Emma, Francesco, Fischbach, Michel, Fouque, Denis, Fourcade, Jacques, François, Hélène, Gilbert-Dussardier, Brigitte, Hannedouche, Thierry, Houillier, Pascal, Izzedine, Hassan, Janner, Marco, Karras, Alexandre, Knebelmann, Bertrand, Lavocat, Marie-Pierre, Lemoine, Sandrine, Leroy, Valérie, Loirat, Chantal, Macher, Marie-Alice, Martin-Coignard, Dominique, Morin, Denis, Niaudet, Patrick, Nivet, Hubert, Nobili, François, Novo, Robert, Faivre, Laurence, Rigothier, Claire, Roussey-Kesler, Gwenaëlle, Salomon, Rémi, Schleich, Andreas, Sellier-Leclerc, Anne-Laure, Soulami, Kenza, Tiple, Aurélien, Ulinski, Tim, Vanhille, Philippe, van Regemorter, Nicole, Jeunemaitre, Xavier, Vargas-Poussou, Rosa   +67 more
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Characterization of Renal Chloride Channel (CLCN5) Mutations in Dent's Disease [PDF]

Journal of the American Society of Nephrology, 2000
Abstract. Dent's disease is an X-linked renal tubular disorder characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, and renal failure. The disease is caused by mutations in a renal chloride channel gene, CLCN5, which encodes a 746 amino acid protein (CLC-5), with 12 to 13 ...
Yamamoto, K, Cox, J, Friedrich, T, Christie, P, Bald, M, Houtman, P, Lapsley, M, Patzer, L, Tsimaratos, M, Van'T Hoff, W, Yamaoka, K, Jentsch, T, Thakker, R   +12 more
openaire   +3 more sources