Maddalena Gigante
A5074623695- Renal Diseases and Glomerulopathies
- Renal and related cancers
- Renal Transplantation Outcomes and Treatments
- Renal cell carcinoma treatment
- Chronic Kidney Disease and Diabetes
- Genetic and Kidney Cyst Diseases
- Urological Disorders and Treatments
- Celiac Disease Research and Management
- Organ Transplantation Techniques and Outcomes
- Immunotherapy and Immune Responses
- Cancer Immunotherapy and Biomarkers
- Immune Cell Function and Interaction
- Eosinophilic Esophagitis
- Digestive system and related health
- CAR-T cell therapy research
- Ion Transport and Channel Regulation
- Viral-associated cancers and disorders
- Pediatric Urology and Nephrology Studies
- Renal and Vascular Pathologies
- Tuberous Sclerosis Complex Research
- Multiple and Secondary Primary Cancers
- Abdominal vascular conditions and treatments
- Cytomegalovirus and herpesvirus research
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Cell Adhesion Molecules Research
University of Bari Aldo Moro
2002-2024
University of Foggia
2009-2022
Ospedali Riuniti di Foggia
2008-2014
Centre Hospitalier Saint-Denis
2013
Centre Hospitalier Universitaire de Nice
2004-2012
GTx (United States)
2009-2011
Université Jean Monnet
2009-2010
Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia
2009
University of Parma
2009
Istituto Giannina Gaslini
2009
To better understand the role of lecithin:cholesterol acyltransferase (LCAT) in lipoprotein metabolism through genetic and biochemical characterization families carrying mutations LCAT gene.Thirteen 17 different gene were identified by Lipid Clinics Departments Nephrology throughout Italy. DNA analysis 82 family members 15 carriers 2 mutant alleles, 11 with familial deficiency (FLD) 4 fish-eye disease (FED). Forty-four individuals carried 1 allele, 23 had a normal genotype. Plasma...
Congenital abnormalities of the kidney and urinary tract are most common cause pediatric failure. These disorders highly heterogeneous, etiologic factors poorly understood.We performed genomewide linkage analysis whole-exome sequencing in a family with an autosomal dominant form congenital or (seven affected members). We also sequence 311 unrelated patients, as well histologic functional studies.Linkage identified five regions genome that were shared among all members. Exome single, rare,...
Kidney transplant recipients (KTRs) have been considered as patients at higher risk of SARS-CoV-2-related disease severity, thus COVID-19 vaccination was highly recommended. However, possible interferences different immunosuppression with development both humoral and T cell–mediated immune response to not determined. Here we evaluated the association between mTOR-inhibitors (mTOR-I) mRNA BNT162b2 (Pfizer-BioNTech) vaccine in KTR. To this aim 132 consecutive KTR vaccinated against early 2021...
CD2-associated protein (CD2AP) is a crucial for the slit-diaphragm assembly and function. In spite of fact that CD2AP knockout causes nephrotic syndrome in mice heterozygous +/- mouse prone to proteinuria, little known about relevance this molecule human renal pathology.A total 80 Italian patients with idiopathic were enrolled screened changes gene. A normal control group 200 healthy donors was also studied. The coding region gene analysed by polymerase chain reaction, denaturing...
Background and objectives Mutations in the TRPC6 gene have been recently identified as cause of late-onset autosomal-dominant focal segmental glomerulosclerosis (FSGS). To extend screening, we analyzed 33 Italian children with sporadic early-onset SRNS three families adult-onset FSGS. Design, setting, participants, & measurements mutation analysis was performed through PCR sequencing. The effects detected amino acid substitutions were by bioinformatics tools functional vitro studies....
Mammalian microRNAs (miR) regulate the expression of genes relevant for development adaptive and innate immunity against cancer. Since T cell dysfunction has previously been reported in patients with renal carcinoma (RCC; clear type), we aimed to analyze these immune cells genetic protein differences when compared normal donor freshly after isolation 35 days vitro stimulation (IVS) HLA-matched RCC tumor cells. We investigated gene profiles tumor-reactive CD8+ obtained from patient their...
It has been suggested that a low plasma high-density lipoprotein cholesterol (HDL-C) level contributes to the high cardiovascular disease risk of patients with chronic kidney (CKD), especially those undergoing haemodialysis (HD). The present study was conducted gain further understanding mechanism(s) responsible for HDL-C levels in CKD and separate impact HD from underlying CKD.Plasma lipids lipoproteins, HDL subclasses various esterification parameters were measured total 248 CKD, 198 whom...
The mechanisms underlying the development of proteinuria in renal-transplant recipients converted from calcineurin inhibitors to sirolimus are still unknown.This is a single-center cohort study. One hundred ten kidney transplant period September 2000 December 2005 were included All patients underwent graft biopsy before conversion (T0) and second protocol 2 years thereafter (T2), according our standard clinical protocol. On basis changes observed between T0 T2 (median 70%), divided into two...
We conducted a retrospective multi-centre study to determine the characteristics of prostate cancer in renal transplant recipients (RTR) and analyse relation with immunosuppressive maintenance therapies.Patients from 19 French centres diagnosed at least 1 year after kidney transplantation were included this study. Data regarding demographics, transplantation, treatment analysed.Sixty-two patients met eligibility criteria for Thirty-eight (61.3%) received calcineurin inhibitors (CNI)...
Chronic antibody-mediated rejection (CAMR) represents the main cause of kidney graft loss. To uncover molecular mechanisms underlying this condition, we characterized signature peripheral blood mononuclear cells (PBMCs) and, separately, CD4(+) T lymphocytes isolated from CAMR patients, compared to transplant recipients with normal function and histology. We enrolled 29 patients biopsy-proven CAMR, stable (controls), 8 clinical histological evidence interstitial fibrosis/tubular atrophy....
Schimke immuno-osseous dysplasia (SIOD, OMIM #242900) is an autosomal-recessive pleiotropic disorder characterized by spondyloepiphyseal dysplasia, renal dysfunction and T-cell immunodeficiency. SIOD caused mutations in the gene SMARCAL1. We report clinical genetic diagnosis of a 5-years old girl with SIOD, referred to our Center because nephrotic-range proteinuria occasionally detected during follow-up for congenital hypothyroidism. Mutational analysis SMARCAL1 was performed polymerase...
Significance Statement Vesicoureteral reflux (VUR) is associated with progressive kidney disease. Familial aggregation supports a hereditary basis; however, its genetic architecture remains to be elucidated. The largest VUR copy number variant analysis and genome-wide association study date accounts for multiple modes of inheritance sex-specific effects in VUR, identifying three study-wide significant five suggestive loci large effects, containing canonical developmental genes including...
Mutations in nephrin (NPHS1) and podocin (NPHS2) genes represent a major cause of idiopathic nephrotic syndrome (NS) children. It is not yet clear whether the presence single mutation acts as modifier clinical course NS.We reviewed features 40 patients with NS associated heterozygous mutations or variants NPHS1 (n = 7) NPHS2 33). Long-term renal survival probabilities were compared those concurrent cohort NS.Patients received diagnosis before potentially nongenetic had good response to...
Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by branchial, ear, and renal anomalies. The most common gene mutated in BOR patients EYA1, the human homolog of Drosophila eyes absent gene, while mutations SIX1 sine oculis, encoding a DNA binding protein interacting with have been reported less frequently. Recently, another SIX family member, SIX5, described patients, however, this association has not confirmed other groups. In study, we clinically...
Mutations of INF2 represent the major cause familial autosomal dominant (AD) focal segmental glomerulosclerosis (FSGS). A few patients present neurological symptoms Charcot-Marie-Tooth (CMT) disease but prevalence association has not been assessed yet.We screened 28 families with AD FSGS and identified 8 mutations in 9 (32 overall), 3 which were new. all cases localized diaphanous-inhibitory domain (DID) protein.Clinical features associated our patient cohort included mild proteinuria (1.55...