Results 21 to 30 of about 1,469 (156)

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

Functional characterization of renal chloride channel, CLCN5, mutations associated with Dent’sJapan disease [PDF]

Kidney International, 1998
The annual urinary screening of Japanese children above three years of age has identified a progressive renal tubular disorder characterized by low molecular weight proteinuria, hypercalciuria and nephrocalcinosis, and this represents a variant of Dent's disease.
Igarashi, T, Günther, W, Sekine, T, Inatomi, J, Shiraga, H, Takahashi, S, Suzuki, J, Tsuru, N, Yanagihara, T, Shimazu, M, Jentsch, T, Thakker, R   +11 more
openaire   +3 more sources

The Concise Guide to PHARMACOLOGY 2023/24: Ion channels

British Journal of Pharmacology, Volume 180, Issue S2, Page S145-S222, October 2023., 2023
The Concise Guide to PHARMACOLOGY 2023/24 is the sixth in this series of biennial publications. The Concise Guide provides concise overviews, mostly in tabular format, of the key properties of approximately 1800 drug targets, and over 6000 interactions with about 3900 ligands. There is an emphasis on selective pharmacology (where available), plus links
Stephen P. H. Alexander, Alistair A. Mathie, John A. Peters, Emma L. Veale, Jörg Striessnig, Eamonn Kelly, Jane F. Armstrong, Elena Faccenda, Simon D. Harding, Jamie A. Davies, Richard W. Aldrich, Bernard Attali, Austin M. Baggetta, Elvir Becirovic, Martin Biel, Roslyn M. Bill, Ana I. Caceres, William A. Catterall, Alex C. Conner, Paul Davies, Katrien De Clerq, Markus Delling, Francesco Di Virgilio, Simonetta Falzoni, Stefanie Fenske, Anna Fortuny‐Gomez, Samuel Fountain, Chandy George, Steve A. N. Goldstein, Christian Grimm, Stephan Grissmer, Kotdaji Ha, Verena Hammelmann, Israel Hanukoglu, Meiqin Hu, Ad P. Ijzerman, Sairam V. Jabba, Mike Jarvis, Anders A. Jensen, Sven E. Jordt, Leonard K. Kaczmarek, Stephan Kellenberger, Charles Kennedy, Brian King, Philip Kitchen, Qiang Liu, Joseph W. Lynch, Jessica Meades, Verena Mehlfeld, Annette Nicke, Stefan Offermanns, Edward Perez‐Reyes, Leigh D. Plant, Lachlan Rash, Dejian Ren, Mootaz M. Salman, Werner Sieghart, Lucia G. Sivilotti, Trevor G. Smart, Terrance P. Snutch, Jinbin Tian, James S. Trimmer, Charlotte Van den Eynde, Joris Vriens, Aguan D. Wei, Brenda T. Winn, Heike Wulff, Haoxing Xu, Fan Yang, Wei Fang, Lixia Yue, Xiaoli Zhang, Michael Zhu   +72 more
wiley   +1 more source

Cooperative and competitive regulation of the astrocytic transcriptome by neurons and endothelial cells: Impact on astrocyte maturation

Journal of Neurochemistry, Volume 167, Issue 1, Page 52-75, October 2023., 2023
Astrocytes interact with neighboring cells, including neurons and endothelia. Neurons induce maturation of the astrocyte transcriptome and endothelia induce expression of a few markers of mature astrocytes. However, it is not known if and how neurons and endothelia interact to regulate the astrocyte transcriptome.
Zila Martinez‐Lozada, W. Todd Farmer, Alexandra L. Schober, Elizabeth Krizman, Michael B. Robinson, Keith K. Murai   +5 more
wiley   +1 more source

From protein uptake to Dent disease: An overview of the CLCN5 gene

Gene, 2020
Proteinuria is a well-known risk factor, not only for renal disorders, but also for several other problems such as cardiovascular diseases and overall mortality. In the kidney, the chloride channel Cl-/H+ exchanger ClC-5 encoded by the CLCN5 gene is actively involved in preventing protein loss. This action becomes evident in patients suffering from the
Lisa Gianesello, Dorella Del Prete, Monica Ceol, Giovanna Priante, Lorenzo Arcangelo Calò, Franca Anglani   +5 more
openaire   +3 more sources

Whole genome methylation sequencing reveals epigenetic landscape and abnormal expression of FABP5 in extramammary Paget's disease

Skin Research and Technology, Volume 29, Issue 10, October 2023., 2023
Abstract Background Extramammary Paget's disease (EMPD) is a rare cutaneous malignant tumor with a high recurrence rate after surgery. However, the genetic and epigenetic alterations underlying its pathogenesis remain unknown. DNA methylation is an important epigenetic modification involved in many biological processes. Methods In this study, enzymatic
Ziwei Kang, Long Jiang, Diyan Chen, Guorong Yan, Guolong Zhang, Yongxian Lai, Qingyu Zeng, Xiuli Wang   +7 more
wiley   +1 more source