Bone marrow transplantation improves proximal tubule dysfunction in a mouse model of Dent disease.
Gabriel, Sarah S; Belge, Hendrica; Gassama, Alkaly; Debaix, Huguette; Luciani, Alessandro; Fehr, Thomas; Devuyst, Olivier.
; 91(4): 842-855, 2017 04.
Artigo em Inglês | MEDLINE | ID: mdl-28143656
A novel CLCN5 pathogenic mutation supports Dent disease with normal endosomal acidification.
Vitamin A deficiency associated with urinary retinol binding protein wasting in Dent's disease.
Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1.
Receptor-mediated endocytosis and endosomal acidification is impaired in proximal tubule epithelial cells of Dent disease patients.
Development of ultra-deep targeted RNA sequencing for analyzing X-chromosome inactivation in female Dent disease.
Molecular effect of a novel missense mutation, L266V, on function of ClC-5 protein in a Japanese patient with Dent's disease.
Inositol 5-phosphatases: insights from the Lowe syndrome protein OCRL.
Update on Dent Disease.
A pure chloride channel mutant of CLC-5 causes Dent's disease via insufficient V-ATPase activation.
Heterogeneity in the processing of CLCN5 mutants related to Dent disease.