Molecular Mechanisms of CLCN5 Missense Mutations in Dent Disease Type 1: A Comprehensive Computational Analysis and Clinical Correlations in a Chinese Cohort.

Coexisting genetic kidney disease explains many cases of 'familial' IgA nephropathy where the proband has biopsy-confirmed mesangial IgA deposits.

The Significance of FGF23 and 24,25-Dihydroxyvitamin D in Dent Disease Type 1.

Ten tips on the work-up and management of CKD patients with nephrolithiasis.

Dual-Genetic Etiology in an Atypical Dent Disease Phenotype Which Combines Features of Focal Segmental Glomerulosclerosis and Ellis-Van Creveld-Like Syndrome: A Case Report.

Genetic and clinical phenotype of Dent disease in Chinese children and the etiological analysis of early - onset chronic kidney disease.

Clinical variation in Lowe syndrome: what and how?

Three intronic variants altering RNA splicing were identified in the CLCN5 gene by minigene assay.

Long-term recombinant human growth hormone therapy in Dent's disease type 1.

Bioinformatics analysis of a CLCN5 geneframeshift mutation in a patient with Dent disease.

Dent Disease 1 Presented Early with Bartter-Like Syndrome Features and Rickets: A Case Report.

Empagliflozin does not prevent progression of Dent's disease type 1 in a mouse model.

The inositol 5-phosphatases OCRL and INPP5B: Cellular functions and roles in disease.

[Clinical and genetic analysis of a patient with Dent disease due to hemizygous variant of the CLCN5 gene].

Comprehensive Splice Pattern Analysis for Previously Reported OCRL Splicing Variants and Their Phenotypic Contributions.

Phenotypes and the Importance of Genetic Analysis in Adult Patients with Nephrolithiasis and/or Nephrocalcinosis: A Single-Center Experience.

Phenotype and genotype analyses of 21 Chinese patients with Dent disease.

Understanding Rare Kidney Stone Diseases: A Review.

Tubular proteinuria due to hereditary endocytic receptor disorder of the proximal tubule: Dent disease and chronic benign proteinuria.

Clinical features and genetic analysis of nine Chinese children with Dent disease and identification of three novel CLCN5 and OCRL variants.

Dent disease: clinical practice recommendations.

Case Report: Early acute kidney failure in an 11-year-old boy with Dent disease type 1.

Dent's disease: case series from a single center.

A narrative review of monogenic disorders causing nephrolithiasis and chronic kidney disease.

A Focus on the Proximal Tubule Dysfunction in Dent Disease Type 1.

Pediatric Dent disease presenting with rickets and end-stage renal disease: case report and literature review.

Gene therapy of Dent disease type 1 in newborn ClC-5 null mice for sustained transgene expression and gene therapy effects.

Prevalence of kidney failure in adults diagnosed with hereditary tubulopathies.

[Two cases of Dent disease type 1 with Bartter-like phenotype and literature review].

4-Phenylbutyric Acid Treatment Reduces Low-Molecular-Weight Proteinuria in a Clcn5 Knock-in Mouse Model for Dent Disease-1.

A novel transgenic mouse model highlights molecular disruptions involved in the pathogenesis of Dent disease 1.

A female patient with Dent disease due to skewed X-chromosome inactivation.

Modeling Dent Disease Type 1 in Flies.

Clinical features and genetic analysis of 15 Chinese children with dent disease.

Renal antiporter ClC-5 regulates collagen I/IV through the β-catenin pathway and lysosomal degradation.

Isolation and characterization of exosome-enriched urinary extracellular vesicles from Dent's disease type 1 Spanish patients.

Prenatal diagnosis of dent disease type I with a nonsense pathogenic variant in CLCN5: a case study.

Histologic and Clinical Factors Associated with Kidney Outcomes in IgA Vasculitis Nephritis.

The Apical Endocytic-Lysosomal Apparatus in CLCN5 Mutations with Phenotypic-Genotypic Correlations in Three Cases.

Drosophila ClC-c Is a Homolog of Human CLC-5 and a New Model for Dent Disease Type 1.

A Case of Hidradenitis Suppurativa in a Genetically Confirmed Lowe Syndrome Patient.

Dent disease 1-linked novel CLCN5 mutations result in aberrant location and reduced ion currents.

A missense mutant of ocrl1 promotes apoptosis of tubular epithelial cells and disrupts endocytosis and the cell cycle of podocytes in Dent-2 Disease.

Characterization of pre-mRNA Splicing Defects Caused by CLCN5 and OCRL Mutations and Identification of Novel Variants Associated with Dent Disease.

A novel likely pathogenic CLCN5 variant in Dent's disease.

Genotypic variability in patients with clinical diagnosis of Bartter syndrome type 3.

Pseudo-Bartter syndrome in an infant without obvious underlying conditions: A case report.

Generation of a human induced pluripotent stem cell line from a patient with dent disease.

The Site and Type of CLCN5 Genetic Variation Impact the Resulting Dent Disease-1 Phenotype.

Research progress on renal calculus associate with inborn error of metabolism.

[A rare tubulopathy: Dent's disease in the background of focal segmental glomerular sclerosis].

Analysis of the ratio of urinary beta-2-microglobulin to total protein concentration in children with isolated tubulointerstitial disease.

Dent disease manifesting as nephrotic syndrome.

Impaired Endosome Maturation Mediates Tubular Proteinuria in Dent Disease Cell Culture and Mouse Models.

Hemizygous loss of function mutations in CLCN5 causing end-stage kidney disease without Dent disease phenotype.

[Short-term efficacy of dapagliflozin in children with hereditary proteinuric kidney disease].

Emerging Perspectives on the Rare Tubulopathy Dent Disease: Is Glomerular Damage a Direct Consequence of ClC-5 Dysfunction?

A Study on the CLCN5 Gene in Iranian Patients: A Report of Novel and Recurrent Mutations.

Prenatal ultrasound findings of X-linked congenital cataracts: case report and description of a novel variant.

Dent disease presenting with nyctalopia and electroretinographic correlates of vitamin A deficiency.

A novel CLCN5 frame shift mutation responsible for Dent disease 1: Case report.

Clinical and genetic characteristics of Dent's disease type 1 in Europe.

Lentiviral vector mediated gene therapy for type I Dent disease ameliorates Dent disease-like phenotypes for three months in ClC-5 null mice.

Be aware of underlying Dent disease in young boys with massive proteinuria.

[Current approach to management of staghorn nephrolithiasis. Literature review. Part 2].

Young Adults With Hereditary Tubular Diseases: Practical Aspects for Adult-Focused Colleagues.

Megalin, a multi-ligand endocytic receptor, and its participation in renal function and diseases: A review.

Genetic and clinical profile of patients with hypophosphatemic rickets.

X-Linked Kidney Disorders in Women.

Genetic testing enables a precision medicine approach for nephrolithiasis and nephrocalcinosis in pediatrics: a single-center cohort.

Dent-2 disease with a Bartter-like phenotype caused by the Asp631Glu mutation in the OCRL gene.

Dent Disease Type 1: A Diagnostic Dilemma and Review.

Molecular Diagnosis of Primary Hyperoxaluria Type 1 and Distal Renal Tubular Acidosis in Moroccan Patients With Nephrolithiasis and/or Nephrocalcinosis.

Rickets guidance: part II-management.

Renal Expression of CLC-5 and Megalin/Cubilin in Dent-1 Disease With Nonsense Mutations of CLCN5 Gene.

A case of Dent disease type 2 with large deletion of OCRL diagnosed after close examination of a school urinary test.

Comprehensive Genetic Analysis Reveals Complexity of Monogenic Urinary Stone Disease.

Genotype Phenotype Correlation in Dent Disease 2 and Review of the Literature: OCRL Gene Pleiotropism or Extreme Phenotypic Variability of Lowe Syndrome?

Bartter-Like Syndrome as the Initial Presentation of Dent Disease 1: A Case Report.

Identification of novel OCRL isoforms associated with phenotypic differences between Dent disease-2 and Lowe syndrome.

Establishment of an induced pluripotent stem cell line (NCKDi003-A) from a patient with X-linked Dent disease (X-Dent) carrying the hemizygote mutation p. T277P (c. 829A > C) in the CLCN5 gene.

Auto-inhibitory intramolecular S5/S6 interaction in the TRPV6 channel regulates breast cancer cell migration and invasion.

Urinary FABP1 is a biomarker for impaired proximal tubular protein reabsorption and is synergistically enhanced by concurrent liver injury.

A 3D Renal Proximal Tubule on Chip Model Phenocopies Lowe Syndrome and Dent II Disease Tubulopathy.

Novel Dent disease 1 cellular models reveal biological processes underlying ClC-5 loss-of-function.

Glomerular podocyte dysfunction in inherited renal tubular disease.

Diversity of functional alterations of the ClC-5 exchanger in the region of the proton glutamate in patients with Dent disease 1.

Differential diagnosis of perinatal Bartter, Bartter and Gitelman syndromes.

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.

[Nephrocalcinosis in children].

Clinical manifestation and genetic findings in three boys with low molecular Weight Proteinuria - three case reports for exploring Dent Disease and Fanconi syndrome.

Atypical presentation of Dent disease in a patient with interstitial Xp11.22 deletion.

Novel Fanconi renotubular syndromes provide insights in proximal tubule pathophysiology.

Small molecules restore the function of mutant CLC5 associated with Dent disease.

Dent Disease Type 2 as a Cause of Focal Segmental Glomerulosclerosis in a 6-Year-Old Boy: A Case Report.

A young man with recurrent kidney stones and renal failure.

From Skin to Kidneys: Cutaneous Clues of Renal Disease in Children.

Making a Dent in Dent Disease.

The phosphoinositide 3-kinase inhibitor alpelisib restores actin organization and improves proximal tubule dysfunction in vitro and in a mouse model of Lowe syndrome and Dent disease.

Genetics and phenotypic heterogeneity of Dent disease: the dark side of the moon.

NonO Is a Novel Co-factor of PRDM1 and Regulates Inflammatory Response in Monocyte Derived-Dendritic Cells.

Genetic and pathological findings in a boy with psoriasis and C3 glomerulonephritis: A case report and literature review.

Comparison of clinical and genetic characteristics between Dent disease 1 and Dent disease 2.

Onset mechanism of a female patient with Dent disease 2.

A rare case of nephrotic syndrome associated with Dent's disease: a case report.

Phenotypic spectrum and antialbuminuric response to angiotensin converting enzyme inhibitor and angiotensin receptor blocker therapy in pediatric Dent disease.

Incomplete cryptic splicing by an intronic mutation of OCRL in patients with partial phenotypes of Lowe syndrome.

Case report: a Chinese girl with dent disease 1 and turner syndrome due to a hemizygous CLCN5 gene mutation and Isochromosome (Xq).

Transcriptome analysis of neural progenitor cells derived from Lowe syndrome induced pluripotent stem cells: identification of candidate genes for the neurodevelopmental and eye manifestations.

From protein uptake to Dent disease: An overview of the CLCN5 gene.

Dent disease: classification, heterogeneity and diagnosis.

A case of Type 1 Dent disease presenting with isolated persistent proteinuria.

Etiological Profile of Nephrocalcinosis in Children from Southern India.

Functional analysis of suspected splicing variants in CLCN5 gene in Dent disease 1.

Polyclonal gammopathy in an adolescent affected by Dent disease 2 and hidradenitis suppurativa.

Genetic Analyses in Dent Disease and Characterization of CLCN5 Mutations in Kidney Biopsies.

Nephrocalcinosis: A Review of Monogenic Causes and Insights They Provide into This Heterogeneous Condition.

Cl- and H+ coupling properties and subcellular localizations of wildtype and disease-associated variants of the voltage-gated Cl-/H+ exchanger ClC-5.

Clinical and genetic analysis of Dent disease with nephrotic range albuminuria in Shaanxi, China.

A Novel CLCN5 Splice Site Mutation in a Boy with Incomplete Phenotype of Dent Disease.

Lowe syndrome identified in the offspring of an oocyte donor who was an unknown carrier of a de novo mutation: a case report and review of the literature.

Multicenter study of the clinical features and mutation gene spectrum of Chinese children with Dent disease.

Living Kidney Donation in a Type 1 Dent's Disease Patient from His Mother.

Dent disease: A window into calcium and phosphate transport.

Urinary apolipoprotein AI in children with kidney disease.

Prevalence of low molecular weight proteinuria and Dent disease 1 CLCN5 mutations in proteinuric cohorts.

C-Terminal Fibroblast Growth Factor-23 Levels in Non-Nutritional Hypophosphatemic Rickets.

Familial Xp11.22 microdeletion including SHROOM4 and CLCN5 is associated with intellectual disability, short stature, microcephaly and Dent disease: a case report.

OCRL deficiency impairs endolysosomal function in a humanized mouse model for Lowe syndrome and Dent disease.

Next-Generation Sequencing in Early Diagnosis of Dent Disease 1: Two Case Reports.

Barttin Regulates the Subcellular Localization and Posttranslational Modification of Human Cl-/H+ Antiporter ClC-5.

Phosphoinositides in the kidney.

Modeling the neuropsychiatric manifestations of Lowe syndrome using induced pluripotent stem cells: defective F-actin polymerization and WAVE-1 expression in neuronal cells.

Clinical Approach to Proximal Renal Tubular Acidosis in Children.

Severe Osteomalacia with Dent Disease Caused by a Novel Intronic Mutation of the CLCN5 gene.

Congenital and acquired diseases related to stone formation.

Congenital chloride diarrhea needs to be distinguished from Bartter and Gitelman syndrome.

A novel CLCN5 pathogenic mutation supports Dent disease with normal endosomal acidification.

Incidental Detection of Dent-2 Disease in an Infant with Febrile Proteinuria.

A novel mutation of Dent's disease in an 11-year-old male with nephrolithiasis and nephrocalcinosis.

[Clinical features and genetic variants of Dent disease in 10 children].

The ratio of urinary α1-microglobulin to microalbumin can be used as a diagnostic criterion for tubuloproteinuria.

Hypercalciuria and nephrolithiasis: Expanding the renal phenotype of Donnai-Barrow syndrome.

Development of ultra-deep targeted RNA sequencing for analyzing X-chromosome inactivation in female Dent disease.

Patients affected by dent disease 2 could be predisposed to hidradenitis suppurativa.

Identification of co-occurrence in a patient with Dent's disease and ADA2-deficiency by exome sequencing.

Early Recognition and Management of Rare Kidney Stone Disorders.

The first Sri Lankan family with Dent disease-1 due to a pathogenic variant in the CLCN5 gene: a case report.

Genetic Analysis of Dent's Disease and Functional Research of CLCN5 Mutations.

Dent disease in Poland: what we have learned so far?

The 5-phosphatase OCRL in Lowe syndrome and Dent disease 2.

Dent disease: Same CLCN5 mutation but different phenotypes in two brothers in China.

Diagnosis and treatment of Dent disease in 10 Chinese boys.

Nanotubes, the fast track to treatment of Dent disease?

Bone marrow transplantation improves proximal tubule dysfunction in a mouse model of Dent disease.

Digenic mutations of human OCRL paralogs in Dent's disease type 2 associated with Chiari I malformation.

Dent's disease complicated by nephrotic syndrome: A case report.

Kidney Tubular Ablation of Ocrl/Inpp5b Phenocopies Lowe Syndrome Tubulopathy.

Phenotype of Dent Disease in a Cohort of Indian Children.

Receptor-Mediated Endocytosis in the Proximal Tubule.

Are filtered plasma proteins processed in the same way by the kidney?

Decreased urinary excretion of the ectodomain form of megalin (A-megalin) in children with OCRL gene mutations.

Proteinuria in Dent disease: a review of the literature.

Phenotypic variability of Dent disease in a large New Zealand kindred.

Glomerular Pathology in Dent Disease and Its Association with Kidney Function.

Observations of a large Dent disease cohort.

Does Dent disease remain an underrecognized cause for young boys with focal glomerulosclerosis?

Dent Disease in Chinese Children and Findings from Heterozygous Mothers: Phenotypic Heterogeneity, Fetal Growth, and 10 Novel Mutations.

Functional and transport analyses of CLCN5 genetic changes identified in Dent disease patients.

A pure chloride channel mutant of CLC-5 causes Dent's disease via insufficient V-ATPase activation.

The oculocerebrorenal syndrome of Lowe: an update.

On the Origin of Urinary Renin: A Translational Approach.

[Renal hypophosphatemia:pathophysiology and treatment].

[Clinical and genetic analysis of Dent disease in 4 Chinese children].

Nephrolithiasis and Nephrocalcinosis in Children - Metabolic and Genetic Factors.

OCRL1 engages with the F-BAR protein pacsin 2 to promote biogenesis of membrane-trafficking intermediates.

Nephrolithiasis, kidney failure and bone disorders in Dent disease patients with and without CLCN5 mutations.

Urine proteome analysis in Dent's disease shows high selective changes potentially involved in chronic renal damage.

Dent disease in children: diagnostic and therapeutic considerations.

Nephrotic-range Albuminuria as the presenting symptom of Dent-2 disease.

Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1.

Characterization of 26 deletion CNVs reveals the frequent occurrence of micro-mutations within the breakpoint-flanking regions and frequent repair of double-strand breaks by templated insertions derived from remote genomic regions.

Double Xp11.22 deletion including SHROOM4 and CLCN5 associated with severe psychomotor retardation and Dent disease.