Results 261 to 270 of about 511,382 (289)

Dent disease 1-linked novel CLCN5 mutations result in aberrant location and reduced ion currents

International Journal of Biological Macromolecules
Dent disease is a rare renal tubular disease with X-linked recessive inheritance characterized by low molecular weight proteinuria (LMWP), hypercalciuria, and nephrocalcinosis. Mutations disrupting the 2Cl-/1H+ exchange activity of chloride voltage-gated channel 5 (CLCN5) have been causally linked to the most common form, Dent disease 1 (DD1), although
Yan, Wang, Lizhen, Xu, Ying, Zhang, Haidong, Fu, Langping, Gao, Yuelin, Guan, Weizhong, Gu, Jingmiao, Sun, Xiangjun, Chen, Fan, Yang, EnYin, Lai, Jingjing, Wang, Yanyan, Jin, Ziqi, Kou, Xingyu, Qiu, Jianhua, Mao, Lidan, Hu   +16 more
openaire   +2 more sources

A novel transgenic mouse model highlights molecular disruptions involved in the pathogenesis of Dent disease 1

Gene
Dent disease (DD) is a hereditary renal disorder characterized by low molecular weight (LMW) proteinuria and progressive renal failure. Inactivating mutations of the CLCN5 gene encoding the 2Cl-/H+exchanger ClC-5 have been identified in patients with DD type 1.
Bouchra Sakhi, Imene, De Combiens, Elise, Frachon, Nadia, Durussel, Fanny, Brideau, Gaelle, Nemazanyy, Ivan, Frère, Perrine, Thévenod, Frank, Lee, Wing-Kee, Zeng, Qinghe, Klein, Christophe, Lourdel, Stéphane, Bignon, Yohan   +12 more
openaire   +4 more sources

Clinical Characterization of a Dent Disease-1 Cohort Including Genotype-Phenotype Correlations

Journal of the American Society of Nephrology, 2022
Muhammad G. Arnous, Andrea G. Cogal, Jennifer Arroyo, Franca Anglani, Peter C. Harris, John C. Lieske   +5 more
openaire   +1 more source

Dent Disease 1

2009
Dieter Metze, Tam Nguyen, Birgit Haack, Alexander K. C. Leung, Noriko Miyake, Naomichi Matsumoto, A. J. Larner, Oliver Bartsch, Barbara C. Van Munster, Christine A. F. Von Arnim, Jochen Klucken, Peter Heutink, Chaeyoung Lee, Alexander K. C. Leung, Alexander A. C. Leung, Justine H. S. Fong, Silke Hofmann, Leena Bruckner-Tuderman, Anca Sindrilaru, Cord Sunderkötter, Lev G. Goldfarb, Andreas Barthel, Erwin Schleicher, Andreas Fritsche, Derek LeRoith, Gunter Wolf, Wilgard Hunger-Dathe, John-John B. Schnog, Victor E. A. Gerdes, Michael Benatar, Michael Fromm, Jörg-Dieter Schulzke, Stefan Bröer, André B. P. Van Kuilenburg, Albert H. Van Gennip*, André B. P. Kuilenburg, Albert H. Gennip*, Michael Straub, Albrecht Hesse, Hugo Ten Cate, Nigel Laing, Frank Mastaglia, Manish Suneja, Christie P. Thomas, Ulrich Müller, Birgit Zirn, Daniela Steinberger, Mary Redmond Hutson, Margaret L. Kirby, Peter L. M. Jansen, Sönke Weihe, Jan Schulte Am Esch, Wolfram Trudo Knoefel, Alexander K. C. Leung, Andrew L. Wong, Noriko Miyake, Naomichi Matsumoto, August H. M. Smelt, Dieter Metze, Johannes Schumacher, Per Hoffmann, Markus M. Nöthen, Andrea Schuppenies, Markus G. Donner, Dieter Häussinger, Norman Kock, Katja Lohmann, Christine Klein   +67 more
openaire   +1 more source

[Two cases of Dent disease type 1 with Bartter-like phenotype and literature review].

Zhonghua yi xue za zhi
The clinical presentation, treatment, and follow-up of two boys with type 1 Dent disease who exhibited a Bartter-like phenotype were retropectively analysed. The related literature of pediatric patients with type 1 Dent disease who had hypokalemia and metabolic alkalosis was screened through databases such as PubMed, CNKI, and Wanfang until February 1,
M, Cheng, X, Meng, M, Liu, C X, Gong
openaire   +1 more source

A New Mouse Model for Dent Disease 1 with Impaired Mitochondrial Metabolism Develops CKD

Journal of the American Society of Nephrology, 2023
Elise de Combiens, Nadia Frachon, Imene B. Sakhi, Stéphane Lourdel   +3 more
openaire   +1 more source

Cardio‐oncology care in the era of the coronavirus disease 2019 (COVID‐19) pandemic: An International Cardio‐Oncology Society (ICOS) statement

Ca-A Cancer Journal for Clinicians, 2020
Daniel J Lenihan, Joseph Carver, Charles Porter   +2 more
exaly  

The Site and Type of CLCN5 Genetic Variation Impact the Resulting Dent Disease-1 Phenotype

Kidney International Reports, 2023
John C Lieske, Franca Anglani
exaly  

The 5-phosphatase OCRL in Lowe syndrome and Dent disease 2

Nature Reviews Nephrology, 2017
Maria Antonietta De Matteis, Leopoldo Staiano, Francesco Emma   +2 more
exaly  

Mutation Update of the Clcn5 Gene Responsible for Dent Disease 1

2015
Mansour-Hendili, Lamisse, et al
openaire   +1 more source