Results 211 to 220 of about 90,078 (248)

Noma - Eradicating a Preventable Disease to Save Lives. [PDF]

Int Dent J
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Drosophila Clc-c as a model of human CLC-5 and Dent Disease type 1

Physiology, 2023
Introduction: Dent Disease type 1 (DD1) results from X-linked, mutations in CLC-5 (2Cl-/H+ exchanger) and results in progressive renal failure by 20-40. DD1 is characterized by kidney Ca2+ mishandling, and subsequent hypercalcuria, calcium oxalate (CaOx) kidney stones, and kidney calcification as well as proteinuria.
Carmen Reynolds, Christopher Gillen, Julian Dow, Michael Romero   +3 more
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Inherited hypercalciuric syndromes: dent’s disease (CLC-5) and familial hypomagnesemia with hypercalciuria (paracellin-1)

Seminars in Nephrology, 2004
Dent's disease and familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) are inherited diseases in which hypercalciuria, nephrocalcinosis, and renal failure are prominent features. Dent's disease resembles a Fanconi syndrome, with impaired reabsorption in the proximal tubule; FHHNC, with urinary loss of magnesium and calcium, is ...
Stephen J, Knohl, Steven J, Scheinman
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Renal Expression of CLC-5 and Megalin/Cubilin in Dent-1 Disease With Nonsense Mutations of CLCN5 Gene

Pediatric and Developmental Pathology, 2022
The study aims to explore the clinicopathological features and whether the nonsense mutations of CLCN5 gene have effect on the renal expression of CLC-5 protein and megalin/cubilin complex in children with Dent-1 disease. The clinicopathological features and genetic examination of three patients with Dent-1 disease were investigated. The expression of
Panpan, Zhai, Weigang, Lv, Xiaoqing, Yang, Yanjie, Huang, Wensheng, Zhai, Xianqing, Ren, Xia, Zhang, Meng, Yang, Jian, Zhang, Ting, Guo, Minghui, Bai, Yueli, Yang, Ying, Ding, Yanshi, Huang   +13 more
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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
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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
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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
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Integrative oncology: Addressing the global challenges of cancer prevention and treatment

Ca-A Cancer Journal for Clinicians, 2022
Jun J Mao,, Msce, Lorenzo Cohen, Karen M Mustian   +2 more
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