Mutation Update of theCLCN5Gene Responsible for Dent Disease 1 [PDF]
Human Mutation, 2015 info:eu-repo/semantics ...
Xavier Jeunemaitre +2 more
exaly +3 more sources
Database of CLCN5 Pathogenic Variants Causing Dent Disease [PDF]
Kidney International ReportsIntroduction: Dent disease type 1 is an X-linked proximal tubulopathy caused by pathogenic variants in CLCN5, which encodes the chloride/proton exchanger, ClC-5.
Pin Lyu +7 more
doaj +3 more sources
A novel likely pathogenic CLCN5 variant in Dent’s disease [PDF]
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 +9 more
doaj +5 more sources
Three intronic variants altering RNA splicing were identified in the CLCN5 gene by minigene assay [PDF]
BMC Medical GenomicsBackground The Dent disease 1 is a rarely inherited renal tubular disease caused by variants in the CLCN5 gene. Increasing evidence suggests that many intronic variants can affect the normal splicing of pre-mRNA by altering various splicing regulatory ...
Leping Shao +2 more
exaly +3 more sources
Molecular Mechanisms of CLCN5 Missense Mutations in Dent Disease Type 1: A Comprehensive Computational Analysis and Clinical Correlations in a Chinese Cohort. [PDF]
J Cell Mol MedABSTRACT Dent's disease, an X‐linked recessive disorder predominantly affecting males, is characterized by nephrocalcinosis, nephrolithiasis, and a high risk of progression to end‐stage renal disease. Dent's disease type 1, accounting for 60% of cases, caused by mutations in the CLCN5 gene encoding the chloride ion channel protein ClC‐5, exhibits ...
Wu C +8 more
europepmc +2 more sources
Screening for CLCN5 mutation in renal calcium stone formers patients [PDF]
Anais da Academia Brasileira de Ciências, 2005 Thirty-five patients (23 males and 12 females), age 35 ± 13 years old, presenting either idiopathic calcium nephrolithiasis, nephrocalcinosis or mild renal failure with idiopathic calcium nephrolithiasis were selected for the analysis of low ...
Maria Alice P. Rebelo +6 more
doaj +5 more sources
Characterization of pre-mRNA Splicing Defects Caused by CLCN5 and OCRL Mutations and Identification of Novel Variants Associated with Dent Disease [PDF]
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 +4 more
doaj +2 more sources
Case Report: Early acute kidney failure in an 11-year-old boy with Dent disease type 1 [PDF]
Frontiers in PediatricsDent disease type 1 (Dent 1) is a rare X-linked genetic condition which impacts kidney function and is caused by pathogenic variants in CLCN5.
Nicolette Murphey +4 more
doaj +2 more sources