Results 21 to 30 of about 2,184 (189)

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

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
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

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

Characterization of pre-mRNA Splicing Defects Caused by CLCN5 and OCRL Mutations and Identification of Novel Variants Associated with Dent Disease

Biomedicines, 2023
Dent disease (DD) is an X-linked renal tubulopathy characterized by low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis and progressive renal failure.
Glorián Mura-Escorche, Ana Perdomo-Ramírez, Elena Ramos-Trujillo, Carmen Jane Trujillo-Frías, Félix Claverie-Martín   +4 more
doaj   +1 more source

Nephrolithiasis, kidney failure and bone disorders in Dent disease patients with and without CLCN5 mutations [PDF]

, 2015
open9noDent disease (DD) is a rare X-linked recessive renal tubulopathy characterised by low-molecular-weight proteinuria (LMWP), hypercalciuria, nephrocalcinosis and/or nephrolithiasis. DD is caused by mutations in both the CLCN5 and OCRL genes.
Angela D’Angelo, Daniela Cremasco, Dorella Del Prete, Enrica Tosetto, Franca Anglani, Luciana Bonfante, Luisa Maria Bertizzolo, Maria Antonietta Addis, Monica Ceol, null null   +9 more
core   +4 more sources

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

A novel likely pathogenic CLCN5 variant in Dent’s disease

BMC Nephrology, 2023
Background The majority of cases of Dent’s disease are caused by pathogenic variants in the CLCN5 gene, which encodes a voltage-gated chloride ion channel (ClC-5), resulting in proximal tubular dysfunction. We present three members of the same family and
S Hayward, J Norton, L Bownass, C Platt, Genomics England Research Consortium, H Campbell, E Watson, N Forrester, S Smithson, A Menon   +9 more
doaj   +1 more source

Generation of a human induced pluripotent stem cell line from a patient with dent disease

Stem Cell Research, 2023
Dent disease, an X-linked tubular disorder, is a rare condition that leads to low-molecular-weight proteinuria, hypercalciuria, kidney stones, and chronic kidney disease.
Xianying Fang, Ji Hyun Kim, Sheng Cui, Yoo Jin Shin, Hanbi Lee, Eun Jeong Ko, Hae Il Cheong, Sejoong Kim, Hoon Seok Kim, Myungshin Kim, Chul Woo Yang, Sun Woo Lim, Byung Ha Chung   +12 more
doaj   +1 more source