Associated Papers
Genetic and clinical phenotype of Dent disease in Chinese children and the etiological analysis of early - onset chronic kidney disease.
Zhou L et al.
Italian Journal of Pediatrics, 2025
Unprecedented coexistence of Dent's disease type 1 and Wilson's disease in a two-year-old Chinese boy: implications for precision medicine.
Mao Q et al.
Bmc Nephrology, 2025
Phenotype and genotype analyses of 21 Chinese patients with Dent disease.
Che R et al.
Journal of Biomedical Research, 2025
Simultaneous CNV-seq and WES: An effective strategy for molecular diagnosis of unexplained fetal structural anomalies.
Zhang H et al.
Heliyon, 2024
The Apical Endocytic-Lysosomal Apparatus in CLCN5 Mutations with Phenotypic-Genotypic Correlations in Three Cases.
Kalmár T et al.
International Journal of Molecular Sciences, 2024
Case Report: Early acute kidney failure in an 11-year-old boy with Dent disease type 1.
Murphey N et al.
Frontiers in Pediatrics, 2024
Characterization of pre-mRNA Splicing Defects Caused by CLCN5 and OCRL Mutations and Identification of Novel Variants Associated with Dent Disease.
Mura-Escorche G et al.
Biomedicines, 2023
Genotype and Phenotype Correlation in Patients With Dent's Disease Type 1-Clearing Muddy Waters.
Mannemuddhu SS et al.
Kidney International Reports, 2023
The Site and Type of CLCN5 Genetic Variation Impact the Resulting Dent Disease-1 Phenotype.
Arnous MG et al.
Kidney International Reports, 2023
Bartter-Like Syndrome as the Initial Presentation of Dent Disease 1: A Case Report.
Chen Q et al.
Frontiers in Pediatrics, 2021
Case report: a Chinese girl with dent disease 1 and turner syndrome due to a hemizygous CLCN5 gene mutation and Isochromosome (Xq).
Ye Y et al.
Bmc Nephrology, 2020
Multicenter study of the clinical features and mutation gene spectrum of Chinese children with Dent disease.
Ye Q et al.
Clinical Genetics, 2020
Cl- and H+ coupling properties and subcellular localizations of wildtype and disease-associated variants of the voltage-gated Cl-/H+ exchanger ClC-5.
Chang MH et al.
The Journal of Biological Chemistry, 2020
Functional and transport analyses of CLCN5 genetic changes identified in Dent disease patients.
Tang X et al.
Physiological Reports, 2016
[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
Modeling study of human renal chloride channel (hCLC-5) mutations suggests a structural-functional relationship.
Wu F et al.
Kidney International, 2003