Associated Papers
New insights from trio whole-exome sequencing in the children with kidney disease: A single-center retrospective cohort study.
Chen Y et al.
Molecular Genetics & Genomic Medicine, 2023
The Site and Type of CLCN5 Genetic Variation Impact the Resulting Dent Disease-1 Phenotype.
Arnous MG et al.
Kidney International Reports, 2023
Hemizygous loss of function mutations in CLCN5 causing end-stage kidney disease without Dent disease phenotype.
Leggatt G et al.
Clinical Kidney Journal, 2023
Multicenter study of the clinical features and mutation gene spectrum of Chinese children with Dent disease.
Ye Q et al.
Clinical Genetics, 2020
[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
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
CLCN5 mutation (R347X) associated with hypokalaemic metabolic alkalosis in a Turkish child: an unusual presentation of Dent's disease.
Besbas N et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2005
Functional evaluation of Dent's disease-causing mutations: implications for ClC-5 channel trafficking and internalization.
Ludwig M et al.
Human Genetics, 2005
Modeling study of human renal chloride channel (hCLC-5) mutations suggests a structural-functional relationship.
Wu F et al.
Kidney International, 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