Results 121 to 130 of about 1,469 (156)
Endosomal chloride/proton exchangers need inhibitory TMEM9 β-subunits for regulation and prevention of disease-causing overactivity. [PDF]
Nat CommunPlanells-Cases R +8 more
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The spectrum of diseases, genetic landscape and new mutation sites of hereditary cystic kidney disease. [PDF]
Clin Kidney JBi J +6 more
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Clcn5遺伝子の標的破壊を持つキメラマウスの作成(Production of the chimaeric mice carrying targeting disruption in the Clcn5 gene)openaire
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Hypercalciuria in patients with CLCN5 mutations
Pediatric Nephrology, 2006Hypercalciuria is regarded as a characteristic symptom of Dent disease, an X-linked recessive tubulopathy characterized by low molecular weight (LMW) proteinuria, nephrocalcinosis/nephrolithiasis, and progressive renal failure due to mutations in the CLCN5 gene.
Michael Ludwig +2 more
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Isolated hypercalciuria with mutation in CLCN5: Relevance to idiopathic hypercalciuria [PDF]
Kidney International, 2000 Isolated hypercalciuria with mutation in CLCN5: Relevance to idiopathic hypercalciuria.Idiopathic hypercalciuria (IH) is the most common risk factor for kidney stones and often has a genetic component. Dent's disease (X-linked nephrolithiasis) is associated with mutations in the CLCN5 chloride channel gene, and low molecular weight (LMW) proteinuria ...
Craig B Langman, Rajesh V Thakker
exaly +4 more sources
A Novel CLCN5 Mutation Associated With Focal Segmental Glomerulosclerosis and Podocyte Injury
Kidney International Reports, 2018 Tubular dysfunction is characteristic of Dent's disease; however, focal segmental glomerulosclerosis (FSGS) can also be present. Glomerulosclerosis could be secondary to tubular injury, but it remains uncertain whether the CLCN5 gene, which encodes an endosomal chloride and/or hydrogen exchanger, plays a role in podocyte biology.
Ashish Kumar Solanki +2 more
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Genetic Analyses in Dent Disease and Characterization of CLCN5 Mutations in Kidney Biopsies [PDF]
International Journal of Molecular Sciences, 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 molecular weight proteins.
Lisa Gianesello +2 more
exaly +4 more sources
Functional analysis of suspected splicing variants in CLCN5 gene in Dent disease 1 [PDF]
Clinical and Experimental Nephrology, 2020 Abstract Background 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.
China Nagano +2 more
exaly +3 more sources