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
doaj +2 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
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 +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
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
Frontiers in Molecular Neuroscience, 2018 Sphingosine-1-phosphate (S1P) is a bioactive sphingolipid involved in numerous physiological and pathophysiological processes. We have previously reported a S1P-induced nocifensive response in mice by excitation of sensory neurons via activation of an ...
Kai K Kummer +2 more
exaly +3 more sources
Renal antiporter ClC-5 regulates collagen I/IV through the β-catenin pathway and lysosomal degradation [PDF]
Life Science AllianceThis study describes how ClC-5, the genetic cause of a rare renal pathology, regulates collagen transcription and degradation, providing a better understanding of disease progression to renal fibrosis. Mutations in Cl − /H + antiporter ClC-5 cause Dent’s
Mònica Durán +7 more
doaj +2 more sources
Unprecedented coexistence of Dent’s disease type 1 and Wilson’s disease in a two-year-old Chinese boy: implications for precision medicine [PDF]
BMC NephrologyBackground The concurrent diagnosis of Dent’s disease type 1 (DD1) and Wilson’s disease (WD) in a single individual has not been previously documented. The co-occurrence of these two distinct autosomal recessive and X-linked disorders poses significant ...
Qingxian Mao +5 more
doaj +2 more sources