Gian Marco Ghiggeri
A5039683551- Renal Diseases and Glomerulopathies
- Chronic Kidney Disease and Diabetes
- Renal and related cancers
- Autoimmune Bullous Skin Diseases
- Genetic and Kidney Cyst Diseases
- Pediatric Urology and Nephrology Studies
- Vasculitis and related conditions
- Systemic Lupus Erythematosus Research
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Platelet Disorders and Treatments
- Monoclonal and Polyclonal Antibodies Research
- Urological Disorders and Treatments
- Protein Interaction Studies and Fluorescence Analysis
- Advanced Proteomics Techniques and Applications
- Ion Transport and Channel Regulation
- Metabolism and Genetic Disorders
- Renal Transplantation Outcomes and Treatments
- Cell Adhesion Molecules Research
- Biomedical Research and Pathophysiology
- Kidney Stones and Urolithiasis Treatments
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- Mass Spectrometry Techniques and Applications
- Diabetes and associated disorders
- Extracellular vesicles in disease
Istituti di Ricovero e Cura a Carattere Scientifico
2016-2025
Istituto Giannina Gaslini
2016-2025
University of Genoa
1981-2024
Laboratory of Molecular Genetics
2000-2024
Morgan Stanley Children's Hospital
2023
Children's Hospital
1995-2021
University of Calgary
2009-2021
Ospedale Regina Margherita
2007-2021
RELX Group (United States)
2019
University of Parma
1992-2015
Abstract A modified Neuhoff's colloidal Coomassie Blue G‐250 stain is reported, dubbed “blue silver” on account of its considerably higher sensitivity, approaching the one conventional silver staining. The main modifications, as compared to protocol, were: a 20% increment in dye concentration (from 0.1% up 0.12%) and much level phosphoric acid recipe 2% 10%). exhibits faster uptake (80% during first hour coloration, vs. none with commercial preparation from Sigma). Even at equilibrium (24 h...
Renal hypodysplasia (RHD) is characterized by a reduced nephron number, small kidney size, and disorganized renal tissue. A hereditary basis has been established for subset of affected patients, suggesting major role developmental genes that are involved in early organogenesis. Gene mutations have dominant inheritance cause RHD, urinary tract anomalies, defined extrarenal symptoms identified TCF2 (renal cysts diabetes syndrome), PAX2 (renal-coloboma EYA1 SIX1 (branchio-oto-renal SALL1...
Primary coenzyme Q(10) (CoQ(10)) deficiency includes a group of rare autosomal recessive disorders primarily characterized by neurological and muscular symptoms. Rarely, glomerular involvement has been reported. The COQ2 gene encodes the para-hydroxybenzoate-polyprenyl-transferase enzyme CoQ(10) synthesis pathway. We identified two patients with early-onset lesions that harbored mutations in gene. first patient presented steroid-resistant nephrotic syndrome at age 18 months as result...
Overexpression of soluble urokinase receptor (suPAR) causes pathology in animal models similar to primary FSGS, and one recent study demonstrated elevated levels serum suPAR patients with the disease. Here, we analyzed circulating two cohorts children adults biopsy-proven FSGS: 70 from North America–based FSGS clinical trial (CT) 94 PodoNet, Europe-based consortium studying steroid-resistant nephrotic syndrome. Circulating were 84.3% 55.3% CT PodoNet cohorts, respectively, compared 6%...
Neutrophil extracellular traps (NET) formation is part of the neutrophil response to infections, but excessive or inappropriate NETosis may trigger production autoantibodies and cause organ damage in autoimmune disorders. Spontaneously netting neutrophils are not frequent induction NET vitro by selected stimuli necessary investigate their structure. In present work, protein composition post-translational modifications produced under different have been studied means proteomic analysis....
A cyclic corticosteroid-cyclophosphamide regimen is the first-line therapy for membranous nephropathy. Compared with this regimen, rituximab might have a more favorable safety profile, but head-to-head comparison lacking.We randomly assigned 74 adults nephropathy and proteinuria >3.5 g/d to (1 g) on days 1 15, or 6-month corticosteroids alternated cyclophosphamide every other month. The primary outcome was complete remission of at 12 months. Other outcomes included determination partial 24...
There is a growing concern within the medical community about potential burden of microplastics on human organs and tissues. In this study, we investigated by microRaman spectroscopy presence in kidneys urine. Moreover, an open-access software was developed validated for project, which enabled comparison between spectra self-created spectral database, thus enhancing ability to characterize polymers pigments biological matrices. Healthy portions ten obtained from nephrectomies, as well urine...
May-Hegglin anomaly, Sebastian syndrome, Fechtner and Epstein syndrome are autosomal dominant macrothrombocytopenias distinguished by different combinations of clinical laboratory signs, such as sensorineural hearing loss, cataract, nephritis, polymorphonuclear Döhle-like bodies. Mutations in the MYH9 gene encoding for nonmuscle myosin heavy chain IIA (NMMHC-IIA) have been identified all these syndromes. To understand role mutations, we report molecular defects 12 new cases, which together...
Glomerular targets of autoimmunity in human membranous nephropathy are poorly understood. Here, we used a combined proteomic approach to identify specific antibodies against podocyte proteins both serum and glomeruli patients with (MN). We detected anti-aldose reductase (AR) anti-manganese superoxide dismutase (SOD2) IgG(4) sera MN. also eluted high titers anti-AR anti-SOD2 from microdissected three biopsies MN kidneys but not other glomerulonephritides characterized by IgG deposition (five...
The disease complex medullary cystic disease/familial juvenile hyperuricemic nephropathy (MCKD/FJHN) is characterized by alteration of urinary concentrating ability, frequent hyperuricemia, tubulo-interstitial fibrosis, cysts at the cortico-medullary junction and renal failure. MCKD/FJHN caused mutations gene encoding uromodulin, most abundant protein in urine. Here, we describe new missense three families with demonstrate allelism a glomerulocystic kidney (GCKD) variant, showing association...
Renal hypodysplasia (RHD) is characterized by reduced kidney size and/or maldevelopment of the renal tissue following abnormal organogenesis. Mutations in developmental genes have been identified a subset affected individuals. Here, we report first mutations BMP4 and SIX2 patients with RHD. We detected 3 5 RHD patients, different patients. Overexpression assays zebrafish demonstrated that these affect function Bmp4 Six2 vivo. six2.1 bmp4 resulted dorsalization ventralization, respectively,...
Prednisone and calcineurin inhibitors are the mainstay therapy of idiopathic nephrotic syndrome (INS) in children. However, drug dependence toxicity associated with protracted use common. Case series suggest that anti-CD20 monoclonal antibody rituximab (RTX) may maintain disease remission.This open-label randomized controlled trial was powered to show a strategy based on RTX lower doses prednisone noninferior standard these agents maintaining 3-month proteinuria as low baseline or up 1 g/d...
Steroid-dependent nephrotic syndrome (SDNS) carries a high risk of toxicity from steroids or steroid-sparing agents. This open-label, noninferiority, randomized controlled trial at four sites in Italy tested whether rituximab is noninferior to maintaining remission juvenile SDNS. We enrolled children age 1-16 years who had developed SDNS the previous 6-12 months and were maintained with prednisone doses (≥0.7 mg/kg per day). randomly assigned participants continue alone for 1 month (control)...
High levels of circulating TNF and its receptors, TNFR1 TNFR2, predict the progression diabetic kidney disease (DKD), but their contribution to organ damage in DKD remains largely unknown. Here, we investigated function local systemic podocyte injury. We cultured human podocytes with sera collected from patients, who displayed elevated levels, focal segmental glomerulosclerosis (FSGS) whose resembled those healthy patients. Exogenous administration or expression was equally sufficient cause...