Explanipedia

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 Open

Dorella Del Prete, Franca Anglani, Federico Nalesso · 2025

Introduction. Dent disease (DD) is an X-linked recessive renal disorder characterized by features of incomplete Fanconi syndrome. DD varies in clinical presentation, manifesting with proteinuria alone or in combination with nephrocalcinosi…

Human parietal epithelial cells as Trojan horses in albumin overload Open

Giovanna Priante, Monica Ceol, Lisa Gianesello, Claudia Maria Radu, Rachele Mantese , et al. · 2025

Parietal Epithelial Cells (PECs) activation and proliferation are common to several distinct forms of glomerulopathies. Due to several stimuli, PECs can change to a progenitor (CD24⁺ and CD133/2⁺) or a pro-sclerotic (…

Modeling Dent Disease Type 1 in Flies Open

Franca Anglani, Giovanna Priante · 2024

Dent disease is an X-linked recessive nephropathy characterized by proximal tubular dysfunction. Around 50%–60% of patients carry pathogenic variants in the CLCN5 gene (Dent disease type 1 [DD1] Online Mendelian Inheritance in Man 300009),…

Human parietal epithelial cells (PECs) and proteinuria in lupus nephritis: a role for ClC-5, megalin, and cubilin? Open

Monica Ceol, Lisa Gianesello, Hernán Trimarchi, Alberto Migliorini, Giovanna Priante , et al. · 2023

From pollakiuria to Donnai‐Barrow syndrome diagnosis in pediatric age Open

Michela Gritti, Luca Pecoraro, Monica Ceol, Angelo Pietrobelli, Giorgio Piacentini , et al. · 2023

We report the case of two siblings with incomplete Donnai-Barrow syndrome (DBS) phenotype carrying three LRP2 variants never associated before with DBS phenotype.

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

Muhammad G. Arnous, Jennifer Arroyo, Andrea G. Cogal, Franca Anglani, Hee Gyung Kang , et al. · 2023

DD1 manifestations, including the risk of kidney stones and progression to kidney failure, may relate to the degree of residual ClC-5 function.

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

Giovanna Priante, Monica Ceol, Lisa Gianesello, Dario Bizzotto, Paola Braghetta , et al. · 2023

Dent disease (DD1) is a rare tubulopathy caused by mutations in the CLCN5 gene. Glomerulosclerosis was recently reported in DD1 patients and ClC-5 protein was shown to be expressed in human podocytes. Nephrin and actin cytoskeleton play a …

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

Lisa Gianesello, Jennifer Arroyo, Dorella Del Prete, Giovanna Priante, Monica Ceol , et al. · 2021

Dent disease is a rare X-linked renal tubulopathy due to CLCN5 and OCRL (DD2) mutations. OCRL mutations also cause Lowe syndrome (LS) involving the eyes, brain and kidney. DD2 is frequently described as a mild form of LS because some patie…

Two unusual cases of Gitelman’s syndrome with a complex inheritance: how the phenotype can help interpret the genotype: lesson for the clinical nephrologist Open

Lorenzo A. Calò, Viviana Palazzo, Leonardo Salviati, Franca Anglani · 2020

Bartter’s syndrome (BS) and Gitelman’s syndrome (GS) are autosomal recessive disorders with overlapping features, caused by biallelic variants in six genes encoding proteins involved in renal electrolyte homeostasis in different districts …

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

Lisa Gianesello, Dorella Del Prete, Franca Anglani, Lorenzo A. Calò · 2020

Dent disease is a rare genetic proximal tubulopathy which is under-recognized. Its phenotypic heterogeneity has led to several different classifications of the same disorder, but it is now widely accepted that the triad of symptoms low-mol…

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

Lisa Gianesello, Dorella Del Prete, Monica Ceol, Giovanna Priante, Lorenzo A. Calò , et al. · 2020

<i>CLCN5</i> 5'Utr Isoforms in Human Kidneys: Differential Expression Analysis between Controls and Patients with Glomerulonephritis Open

Monica Ceol, Lisa Gianesello, Enrica Tosetto, Giovanna Priante, Dorella Del Prete , et al. · 2020

ClC-5, the electrogenic chloride/proton exchanger strongly expressed in renal proximal tubules, belongs to the endocytic macromolecular complex responsible for albumin and low-molecular-weight protein uptake. ClC-5 was found to be overexpr…

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

Lisa Gianesello, Monica Ceol, Loris Bertoldi, Liliana Terrin, Giovanna Priante , et al. · 2020

Dent disease (DD), an X-linked renal tubulopathy, is mainly caused by loss-of-function mutations in CLCN5 (DD1) and OCRL genes. CLCN5 encodes the ClC-5 antiporter that in proximal tubules (PT) participates in the receptor-mediated endocyto…

Dent disease: A window into calcium and phosphate transport Open

Franca Anglani, Lisa Gianesello, Lada Beara‐Lasić, John C. Lieske · 2019

This review examines calcium and phosphate transport in the kidney through the lens of the rare X‐linked genetic disorder Dent disease. Dent disease type 1 (DD1) is caused by mutations in the CLCN5 gene encoding ClC‐5, a Cl − /H + antiport…

Cell Death in the Kidney Open

Giovanna Priante, Lisa Gianesello, Monica Ceol, Dorella Del Prete, Franca Anglani · 2019

Apoptotic cell death is usually a response to the cell’s microenvironment. In the kidney, apoptosis contributes to parenchymal cell loss in the course of acute and chronic renal injury, but does not trigger an inflammatory response. What d…

Cell death in ectopic calcification of the kidney Open

Giovanna Priante, Federica Mezzabotta, Rosalba Cristofaro, Federica Quaggio, Monica Ceol , et al. · 2019

FP071CELL DEATH IN NEPHROCALCINOSIS: ROLE OF ANGIOTENSIN II TYPE 2 RECEPTOR AND APOPTOSIS IN PROXIMAL TUBULAR CELLS Open

Giovanna Priante, Monica Ceol, Lisa Gianesello, Claudio Furlan, Dorella Del Prete , et al. · 2019

FP103MEGALIN, CUBILIN AND CLC-5 GLOMERULAR EXPRESSION IN MINIMAL CHANGE DISEASE (MCD) AND FOCAL SEGMENTAL GLOMERULOSCLEROSIS (FSGS) Open

Lisa Gianesello, Monica Ceol, Hernán Trimarchi, Daniela Stringa, Giovanna Priante , et al. · 2019

FP008RETROSPECTIVE OBSERVATIONAL STUDY FOR EVALUATION OF PREVALENCE AND INCIDENCE OF CHRONIC KIDNEY DISEASE (CKD) IN PATIENTS WITH NEPHROLITHIASIS Open

Lisa Gianesello, A. Fonti, Anna Chiara Frigo, Giovanna Priante, Monica Ceol , et al. · 2019

If VitD supplements are prescribed to kidney stone formers, a careful monitoring of urine metabolic profile is warranted, in order to customize the metaphylaxis accordingly (hydration, potassium citrate, thiazides).

Human proximal tubular cells can form calcium phosphate deposits in osteogenic culture: role of cell death and osteoblast-like transdifferentiation Open

Giovanna Priante, Monica Ceol, Lisa Gianesello, Claudio Furlan, Dorella Del Prete , et al. · 2019

FP070HUMAN PARIETAL EPITHELIAL CELLS EXPRESS TUBULAR PROTEIN UPTAKE SYSTEM IN VIVO Open

Lisa Gianesello, Monica Ceol, Andrea Doria, Giovanna Priante, Annalisa Angelini , et al. · 2018

SP044ROLE OF CELL DEATH IN NEPHROCALCINOSIS: AN IN VITRO STUDY OF HK-2 CELLS Open

Giovanna Priante, Lisa Gianesello, Monica Ceol, Claudio Furlan, Dorella Del Prete , et al. · 2018

Caspase-independent programmed cell death triggers Ca2PO4 deposition in an <i>in vitro</i> model of nephrocalcinosis Open

Giovanna Priante, Federica Quaggio, Lisa Gianesello, Monica Ceol, Rosalba Cristofaro , et al. · 2017

Nephrocalcinosis involves the deposition of microscopic crystals in the tubular lumen or interstitium. While the clinical, biochemical, and genetic aspects of the diseases causing nephrocalcinosis have been elucidated, little is known abou…

Albumin uptake in human podocytes: a possible role for the cubilin-amnionless (CUBAM) complex Open

Lisa Gianesello, Giovanna Priante, Monica Ceol, Claudia Maria Radu, Moin A. Saleem , et al. · 2017

Understanding the Pathophysiology of Nephrocalcinosis Open

Giovanna Priante, Monica Ceol, Liliana Terrin, Lisa Gianesello, Federica Quaggio , et al. · 2017

Many in vitro and in vivo studies on the mechanisms underlying calcium nephrolithiasis have provided evidence of a frequently associated condition, i.e., a microscopic renal crystal deposition that can occur within the tubular lumen (intra…

MP062EXPLORING ALBUMIN UPTAKE IN HUMAN PODOCYTES: A POSSIBLE INVOLVEMENT FOR THE TUBULAR UPTAKE MACHINERY Open

Lisa Gianesello, Giovanna Priante, Monica Ceol, Claudia Maria Radu, Moin A. Saleem , et al. · 2017

MP073IN VITRO MODEL OF NEPHROCALCINOSIS: IS APOPTOSIS IN GDNF SILENCED HK2 CELLS THE TRIGGER OF CA2PO4 MINERALIZATION PROCESS? Open

Giovanna Priante, Fedrica Quaggio, Lisa Gianesello, Monica Ceol, Liliana Terrin , et al. · 2017

MO069LRP2 VARIANTS IN DENT DISEASE PATIENTS WITH NO DETECTABLE MUTATION IN CLCN5 AND OCRL GENES Open

Liliana Terrin, Loris Bertoldi, Monica Ceol, Lisa Gianesello, Giovanna Priante , et al. · 2017

QueryOR: a comprehensive web platform for genetic variant analysis and prioritization Open

Loris Bertoldi, Claudio Forcato, Nicola Vitulo, Giovanni Birolo, Fabio De Pascale , et al. · 2017

QueryOR is a comprehensive and flexible web platform eligible for an easy user-driven variant prioritization. It is freely available for academic institutions at http://queryor.cribi.unipd.it/ .

Additional file 1: of QueryOR: a comprehensive web platform for genetic variant analysis and prioritization Open

Loris Bertoldi, Claudio Forcato, Nicola Vitulo, Giovanni Birolo, Fabio De Pascale , et al. · 2017

This file contains supplementary figures supporting the manuscript. Figure S1 time required for uploading and processing a project. Figure S2 time required for the processing of a query. (ODT 121 kb)

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