The Site and Type of CLCN5 Genetic Variation Impact the Resulting Dent Disease-1 Phenotype-Reference-Cited by-同舟云学术

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

Published:2023-06 Issue:6 Volume:8 Page:1220-1230
ISSN:2468-0249
Container-title:Kidney International Reports
language:en
Short-container-title:Kidney International Reports

Author:

Arnous Muhammad G.,Arroyo Jennifer,Cogal Andrea G.,Anglani Franca,Kang Hee Gyung,Sas David,Harris Peter C.,Lieske John C.

Publisher

Elsevier BV

Subject

Nephrology

Reference30 articles.

1. Dent’s disease; a familial proximal renal tubular syndrome with low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, metabolic bone disease, progressive renal failure and a marked male predominance;Wrong;QJM,1994

2. Dent disease;Lieske,1993

3. Dent disease: a window into calcium and phosphate transport;Anglani;J Cell Mol Med,2019

4. CLC channel function and dysfunction in health and disease;Stolting;Front Physiol,2014

5. Nephrocalcinosis: a review of monogenic causes and insights they provide into this heterogeneous condition;Dickson;Int J Mol Sci,2020

Cited by 6 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A novel transgenic mouse model highlights molecular disruptions involved in the pathogenesis of Dent disease 1;Gene;2024-11

2. A Focus on the Proximal Tubule Dysfunction in Dent Disease Type 1;Genes;2024-09-07

3. Genetic causes of hypophosphatemia;Minerva Medica;2024-06

4. Drosophila ClC-c Is a Homolog of Human CLC-5 and a New Model for Dent Disease Type 1;Kidney360;2024-01-18

5. Characterization of pre-mRNA Splicing Defects Caused by CLCN5 and OCRL Mutations and Identification of Novel Variants Associated with Dent Disease;Biomedicines;2023-11-17