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
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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
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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 ...
Dan Qiao +4 more
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Nephrolithiasis, kidney failure and bone disorders in Dent disease patients with and without CLCN5 mutations [PDF]
SpringerPlus, 2015 open9noDent disease (DD) is a rare X-linked recessive renal tubulopathy characterised by low-molecular-weight proteinuria (LMWP), hypercalciuria, nephrocalcinosis and/or nephrolithiasis. DD is caused by mutations in both the CLCN5 and OCRL genes.
Monica Ceol +2 more
exaly +6 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
Albumin uptake in human podocytes: a possible role for the cubilin-amnionless (CUBAM) complex [PDF]
Scientific Reports, 2017 Albumin re-uptake is a receptor-mediated pathway located in renal proximal tubuli. There is increasing evidence of glomerular protein handling by podocytes, but little is known about the mechanism behind this process.
Lisa Gianesello +8 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
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Clinical features and genetic analysis of nine Chinese children with Dent disease and identification of three novel CLCN5 and OCRL variants [PDF]
Renal FailureObjective This study aims to elucidate the genetic and phenotypic characteristics of pediatric patients with potential Dent disease (DD).Methods High-throughput sequencing was conducted on 11 pediatric patients with potential cases of DD.
Xinyi Jiang +6 more
doaj +2 more sources
Solute carrier-correlated gene signature in predicting the prognosis and immunity in patients with acute myeloid leukemia [PDF]
European Journal of Medical ResearchBackground Solute carrier (SLC) is involved in diverse malignancies. This research analyzed the involvement of SLC-related genes in acute myeloid leukemia (AML).
Delei Zhang, Gongli Li
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Genetic and clinical phenotype of Dent disease in Chinese children and the etiological analysis of early - onset chronic kidney disease [PDF]
Italian Journal of PediatricsBackground A prominent feature of Dent disease (DD) is the progressive decline in renal function, with 30% - 80% of male patients advancing to end-stage renal disease between the ages of 30 and 50 years.
Lanqi Zhou +7 more
doaj +2 more sources