Results 161 to 170 of about 2,467 (196)

Endosomal chloride/proton exchangers need inhibitory TMEM9 β-subunits for regulation and prevention of disease-causing overactivity. [PDF]

Nat Commun
Planells-Cases R, Vorobeva V, Kar S, Schmitt FW, Schulte U, Schrecker M, Hite RK, Fakler B, Jentsch TJ.   +8 more
europepmc   +1 more source

Gene modification: Exploring the potential in treating kidney diseases. [PDF]

Pharmacol Res
Ekperikpe US, Zhao S, Daehn IS.
europepmc   +1 more source

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)

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)
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Hypercalciuria in patients with CLCN5 mutations

Pediatric Nephrology, 2006
Hypercalciuria 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, Boris Utsch, Arend Bokenkamp   +2 more
exaly   +3 more sources

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 ...
Caroline M Gorvin, Simon H S Pearce, John R Asplin   +2 more
exaly   +4 more sources

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, Monica Ceol, Loris Bertoldi   +2 more
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, Ehtesham Arif, Gary Hardiman   +2 more
exaly   +4 more sources

Clinical and genetic studies of CLCN5 mutations in Japanese families with Dent's disease [PDF]

Kidney International, 2000
Dent's disease is an X-linked renal tubular disorder that is characterized by low molecular weight proteinuria, hypercalciuria, nephrolithiasis, and renal failure. The disease is caused by inactivation of a renal chloride channel gene, CLCN5, that encodes a 746-amino acid protein with 12 to 13 transmembrane domains.
Rajesh V Thakker
exaly   +3 more sources