Results 21 to 30 of about 2,467 (196)

A female patient with Dent disease due to skewed X-chromosome inactivation. [PDF]

Clin Kidney J
X-linked proximal tubulopathies are rare diseases that predominantly affect men. Women are generally carriers and clinical or biochemical manifestations are usually absent or mild.
D'Ambrosio V, Wan ER, Siew K, Hayes W, Walsh SB.   +4 more
europepmc   +3 more sources

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

Empagliflozin does not prevent progression of Dent's disease type 1 in a mouse model. [PDF]

Exp Physiol
Abstract Dent's disease is a rare inherited renal disorder characterized by generalized proximal tubule dysfunction with low molecular weight proteinuria, hypercalciuria, and urinary loss of other solutes. The disease is progressive and leads to chronic kidney disease.
de Combiens E, Frachon N, Bignon Y, Fila M, Brossard C, Frère P, Lourdel S.   +6 more
europepmc   +2 more sources

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
doaj   +1 more source

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
doaj   +1 more source

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
openaire   +3 more sources

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

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
doaj   +1 more source

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
openaire   +5 more sources