Results 41 to 50 of about 93,897 (194)
From protein uptake to Dent disease: An overview of the CLCN5 gene. [PDF]
Gene, 2020 Proteinuria is a well-known risk factor, not only for renal disorders, but also for several other problems such as cardiovascular diseases and overall mortality.
Gianesello L +5 more
europepmc +2 more sources
Nephrology Dialysis Transplantation, 2005 Dent's disease is a renal tubular disorder characterized by manifestations of proximal tubule dysfunction, including low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure. These features are generally found in males only, and may be present in early childhood, whereas female carriers may show
Neild, G, Thakker, R, Unwin, R, Wrong, O
openaire +2 more sources
Generation of a human induced pluripotent stem cell line from a patient with dent disease
Stem Cell Research, 2023 Dent disease, an X-linked tubular disorder, is a rare condition that leads to low-molecular-weight proteinuria, hypercalciuria, kidney stones, and chronic kidney disease.
Xianying Fang +12 more
doaj +1 more source
Genotype-Phenotype Correlation Reanalysis in 83 Chinese Cases with OCRL Mutations
Genetics Research, 2022 Background. Both Lowe syndrome and Dent-2 disease are caused by variants in the OCRL gene. However, the reason why patients with similar OCRL gene mutations presented with different phenotypes remains uncertain. Methods.
Lingxia Zhang +12 more
doaj +1 more source
Small molecules restore the function of mutant CLC5 associated with Dent disease. [PDF]
J Cell Mol Med, 2021 Dent disease type 1 is caused by mutations in the CLCN5 gene that encodes CLC5, a 2Cl−/H+ exchanger. The CLC5 mutants that have been functionally analysed constitute three major classes based on protein expression, cellular localization and channel ...
Liu J +5 more
europepmc +2 more sources
Genetic Analyses in Dent Disease and Characterization of CLCN5 Mutations in Kidney Biopsies. [PDF]
Int J Mol Sci, 2020 Dent disease (DD), an X-linked renal tubulopathy, is mainly caused by loss-of-function mutations in CLCN5 (DD1) and OCRL genes. CLCN5 encodes the ClC-5 antiporter that in proximal tubules (PT) participates in the receptor-mediated endocytosis of low ...
Gianesello L +14 more
europepmc +2 more sources
Dent-2 disease with a Bartter-like phenotype caused by the Asp631Glu mutation in the OCRL gene
BMC Nephrology, 2022 Background Dent disease is an X-linked disorder characterized by low molecular weight proteinuria (LMWP), hypercalciuria, nephrolithiasis and chronic kidney disease (CKD).
Eleni Drosataki +9 more
doaj +1 more source
Functional analysis of suspected splicing variants in CLCN5 gene in Dent disease 1. [PDF]
Clin Exp Nephrol, 2020 In recent years, the elucidation of splicing abnormalities as a cause of hereditary diseases has progressed. However, there are no comprehensive reports of suspected splicing variants in the CLCN5 gene in Dent disease cases.
Inoue T +13 more
europepmc +2 more sources
Origin of Proteinuria as Observed from Qualitative and Quantitative Analysis of Serum and Urinary Proteins [PDF]
Childhood Kidney Diseases, 2015 It is well known that proteins present in the primary urine are reabsorbed in the renal proximal tubules, and that this reabsorption is mediated via the megalin‐cubilin complex and the neonatal Fcγ receptor.
Shori Takahashi
doaj +1 more source
Stem Cell Research, 2021 The gene mutations of the chloride channel gene (CLCN5) can lead to the inherited X-linked Dent disease (X-Dent). The urine cells of a 4-year-old male X-Dent patient with the hemizygous CLCN5 gene mutation p.R718* (c.2152C > T) were reprogrammed into ...
Huihui Chen +12 more
doaj +1 more source