A novel CLCN5 mutation in a boy with Bartter-like syndrome and partial growth hormone deficiency

ClC-5, the chloride channel mutated in Dent’s disease, colocalizes with the proton pump in endocytotically active kidney cells

W. C. Gunther, Anke Lüchow, Françoise Cluzeaud et al. · Proceedings of the National Academy of Sciences · 1998 · 429 citations

Life Sciences, Cell Biology, Nephrology +17

Loss of chloride channel ClC-5 impairs endocytosis by defective trafficking of megalin and cubilin in kidney proximal tubules

Erik Christensen, Olivier Devuyst, Rikke Nielsen et al. · Proceedings of the National Academy of Sciences · 2003 · 320 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +17

Dent-2 Disease: A Mild Variant of Lowe Syndrome

Arend Bökenkamp, Detlef Böckenhauer, Hae Il Cheong et al. · The Journal of Pediatrics · 2009 · 121 citations

Dentistry, Oral Biology, Oral Diagnosis +4

Renal tubular involvement mimicking Bartter syndrome in a patient with Kearns-Sayre syndrome

Yu‐ichi Goto, Noritomo Itami, Naofumi Kajii et al. · The Journal of Pediatrics · 1990 · 97 citations

Medicine, Nephrology, Pathology +11

Novel OCRL1 Mutations in Patients With the Phenotype of Dent Disease

Boris Utsch, Arend Bökenkamp, Marcus R. Benz et al. · American Journal of Kidney Diseases · 2006 · 84 citations

Dentistry, Oral Biology, Oral Medicine +2