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
Clinical features and genetic analysis of 15 Chinese children with dent disease.
Li Q et al.
Renal Failure, 2024
Dent's disease: case series from a single center.
Yaşar H et al.
The Turkish Journal of Pediatrics, 2024
Comprehensive Catalog of Variants Potentially Associated with Hidradenitis Suppurativa, Including Newly Identified Variants from a Cohort of 100 Patients.
Muret K et al.
International Journal of Molecular Sciences, 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
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
Heterogeneity in Lowe Syndrome: Mutations Affecting the Phosphatase Domain of OCRL1 Differ in Impact on Enzymatic Activity and Severity of Cellular Phenotypes.
Lee JJ et al.
Biomolecules, 2023
A case of Dent disease type 2 with large deletion of OCRL diagnosed after close examination of a school urinary test.
Motoyoshi Y et al.
Cen Case Reports, 2022
Genotype-Phenotype Correlation Reanalysis in 83 Chinese Cases with OCRL Mutations.
Zhang L et al.
Genetics Research, 2022
Genotype Phenotype Correlation in Dent Disease 2 and Review of the Literature: OCRL Gene Pleiotropism or Extreme Phenotypic Variability of Lowe Syndrome?
Gianesello L et al.
Genes, 2021
Genetics and phenotypic heterogeneity of Dent disease: the dark side of the moon.
Gianesello L et al.
Human Genetics, 2021
Incomplete cryptic splicing by an intronic mutation of OCRL in patients with partial phenotypes of Lowe syndrome.
Nakano E et al.
Journal of Human Genetics, 2020
Dent Disease Type 2 as a Cause of Focal Segmental Glomerulosclerosis in a 6-Year-Old Boy: A Case Report.
Bezdíčka M et al.
Frontiers in Pediatrics, 2020
Splicing Analysis of Exonic OCRL Mutations Causing Lowe Syndrome or Dent-2 Disease.
Suarez-Artiles L et al.
Genes, 2018
Long-term renal outcome in children with OCRL mutations: retrospective analysis of a large international cohort.
Zaniew M et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2018
Identification and functional analysis of a novel oculocerebrorenal syndrome of Lowe (OCRL) gene variant in two pedigrees with varying phenotypes including isolated congenital cataract.
Shalaby AK et al.
Molecular Vision, 2018
The 5-phosphatase OCRL in Lowe syndrome and Dent disease 2.
De Matteis MA et al.
Nature Reviews. Nephrology, 2017
The oculocerebrorenal syndrome of Lowe: an update.
Bökenkamp A et al.
Pediatric Nephrology (berlin, Germany), 2016
Nephrotic-range Albuminuria as the presenting symptom of Dent-2 disease.
De Mutiis C et al.
Italian Journal of Pediatrics, 2015
Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome.
Recker F et al.
Pediatric Nephrology (berlin, Germany), 2015
Japanese Dent disease has a wider clinical spectrum than Dent disease in Europe/USA: genetic and clinical studies of 86 unrelated patients with low-molecular-weight proteinuria.
Sekine T et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2014
Inositol polyphosphate 5-phosphatases; new players in the regulation of cilia and ciliopathies.
Conduit SE et al.
Febs Letters, 2012
From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes.
Hichri H et al.
Human Mutation, 2011
[From gene to disease; Dent's disease caused by abnormalities in the CLCN5 and OCRL1 genes].
Levtchenko EN et al.
Nederlands Tijdschrift Voor Geneeskunde, 2007
Hidradenitis Suppurativa: Comprehensive Review of Predisposing Genetic Mutations and Changes.
Jfri AH et al.
Journal of Cutaneous Medicine and Surgery, 0