Associated Papers
Phenotype and genotype analyses of 21 Chinese patients with Dent disease.
Che R et al.
Journal of Biomedical Research, 2025
A female patient with Dent disease due to skewed X-chromosome inactivation.
D'Ambrosio V et al.
Clinical Kidney Journal, 2024
Dent disease 1-linked novel CLCN5 mutations result in aberrant location and reduced ion currents.
Wang Y et al.
International Journal of Biological Macromolecules, 2024
Prenatal diagnosis of dent disease type I with a nonsense pathogenic variant in CLCN5: a case study.
Zhu R et al.
Bmc Medical Genomics, 2024
Identification of mutations in 15 nephrolithiasis-related genes leading to a molecular diagnosis in 85 Chinese pediatric patients.
Liu Y et al.
Pediatric Nephrology (berlin, Germany), 2023
Dent disease presenting with nyctalopia and electroretinographic correlates of vitamin A deficiency.
Arnett JJ et al.
American Journal of Ophthalmology Case Reports, 2023
Genetics and phenotypic heterogeneity of Dent disease: the dark side of the moon.
Gianesello L et al.
Human Genetics, 2021
Establishment of an induced pluripotent stem cell line (WMUi016-A) from a patient with X-linked Dent disease (X-Dent) carrying the hemizygote mutation p.R718* (c.2152C > T) in the CLCN5 gene.
Chen H et al.
Stem Cell Research, 2021
Dent disease: classification, heterogeneity and diagnosis.
Jin YY et al.
World Journal of Pediatrics : Wjp, 2021
Multicenter study of the clinical features and mutation gene spectrum of Chinese children with Dent disease.
Ye Q et al.
Clinical Genetics, 2020
Genetic Analyses in Dent Disease and Characterization of CLCN5 Mutations in Kidney Biopsies.
Gianesello L et al.
International Journal of Molecular Sciences, 2020
Dent disease in Poland: what we have learned so far?
Zaniew M et al.
International Urology and Nephrology, 2017
[Clinical and genetic analysis of Dent disease in 4 Chinese children].
Jian S et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2015
Conformational defects underlie proteasomal degradation of Dent's disease-causing mutants of ClC-5.
D'Antonio C et al.
The Biochemical Journal, 2013
ClC-5 mutations associated with Dent's disease: a major role of the dimer interface.
Lourdel S et al.
Pflugers Archiv : European Journal of Physiology, 2012
ClC transporters: discoveries and challenges in defining the mechanisms underlying function and regulation of ClC-5.
Wellhauser L et al.
Pflugers Archiv : European Journal of Physiology, 2010
Novel CLCN5 mutations in patients with Dent's disease result in altered ion currents or impaired exchanger processing.
Grand T et al.
Kidney International, 2009
Mutational analysis of CLC-5, cofilin and CLC-4 in patients with Dent's disease.
Wu F et al.
Nephron. Physiology, 2009
Hypercalciuria in patients with CLCN5 mutations.
Ludwig M et al.
Pediatric Nephrology (berlin, Germany), 2006
Phenotypic and genetic heterogeneity in Dent's disease--the results of an Italian collaborative study.
Tosetto E et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2006
Functional evaluation of Dent's disease-causing mutations: implications for ClC-5 channel trafficking and internalization.
Ludwig M et al.
Human Genetics, 2005
Evidence for genetic heterogeneity in Dent's disease.
Hoopes RR et al.
Kidney International, 2004
De novo insertion of an Alu sequence in the coding region of the CLCN5 gene results in Dent's disease.
Claverie-Martin F et al.
Human Genetics, 2003
Modeling study of human renal chloride channel (hCLC-5) mutations suggests a structural-functional relationship.
Wu F et al.
Kidney International, 2003
Novel truncating mutations in the ClC-5 chloride channel gene in patients with Dent's disease.
Carballo-Trujillo I et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2003
Renal Expression of CLC-5 and Megalin/Cubilin in Dent-1 Disease With Nonsense Mutations of CLCN5 Gene.
Zhai P et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0