Associated Papers
Clinical features and genetic analysis of nine Chinese children with Dent disease and identification of three novel CLCN5 and OCRL variants.
Jiang X et al.
Renal Failure, 2025
Phenotype and genotype analyses of 21 Chinese patients with Dent disease.
Che R et al.
Journal of Biomedical Research, 2025
Increased risk of kidney failure in patients with genetic kidney disorders.
Elliott MD et al.
The Journal of Clinical Investigation, 2024
39225089 (PubMed )
Supplement: jci-134-178573-s021.xlsx › Supp_Table_2
The Site and Type of CLCN5 Genetic Variation Impact the Resulting Dent Disease-1 Phenotype.
Arnous MG et al.
Kidney International Reports, 2023
37284679 (PubMed )
Supplement: mmc1.pdf
Pathogenic variant detection rate by whole exome sequencing in Thai patients with biopsy-proven focal segmental glomerulosclerosis.
Isaranuwatchai S et al.
Scientific Reports, 2023
Genetics and phenotypic heterogeneity of Dent disease: the dark side of the moon.
Gianesello L et al.
Human Genetics, 2021
32860533 (PubMed )
Supplement: 439_2020_2219_MOESM1_ESM.docx
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
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
Modeling study of human renal chloride channel (hCLC-5) mutations suggests a structural-functional relationship.
Wu F et al.
Kidney International, 2003
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