Giorgia Mandrile
A5054308691- Kidney Stones and Urolithiasis Treatments
- Biomedical Research and Pathophysiology
- Porphyrin Metabolism and Disorders
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Cancer Genomics and Diagnostics
- Pediatric Urology and Nephrology Studies
- Chromosomal and Genetic Variations
- Autism Spectrum Disorder Research
- Cancer-related Molecular Pathways
- Epigenetics and DNA Methylation
- Congenital heart defects research
- Hemoglobinopathies and Related Disorders
- Genomics and Chromatin Dynamics
- Adrenal Hormones and Disorders
- Genomics and Phylogenetic Studies
- Colorectal Cancer Treatments and Studies
- Immunodeficiency and Autoimmune Disorders
- Cell Adhesion Molecules Research
- Renal and related cancers
- Advanced Glycation End Products research
- RNA Research and Splicing
- Chronic Lymphocytic Leukemia Research
- Lung Cancer Treatments and Mutations
Ospedale San Luigi Gonzaga
2015-2025
University of Turin
2014-2025
Vall d'Hebron Institut de Recerca
2024
University of Bologna
2022
Icahn School of Medicine at Mount Sinai
2022
Azienda Ospedaliera Citta' della Salute e della Scienza di Torino
2016-2022
University of Verona
2022
University of Florence
2017
Ente Ospedaliero Ospedali Galliera
2013
Pediatrics and Genetics
2007
Despite improvements in genomics technology, the detection of structural variants (SVs) from short-read sequencing still poses challenges, particularly for complex variation. Here we analyse genomes two patients with congenital abnormalities using MinION nanopore sequencer and a novel computational pipeline-NanoSV. We demonstrate that long reads are superior to short regard de novo chromothripsis rearrangements. The also enable efficient phasing genetic variations, which leveraged determine...
Primary hyperoxaluria Type 1 is a rare autosomal recessive inborn error of glyoxylate metabolism, caused by deficiency the liver-specific enzyme alanine:glyoxylate aminotransferase. The disorder results in overproduction and excessive urinary excretion oxalate, causing recurrent urolithiasis nephrocalcinosis. As glomerular filtration rate declines due to progressive renal involvement, oxalate accumulates leading systemic oxalosis. diagnosis based on clinical sonographic findings, urine...
Structural variation (SV) influences genome organization and contributes to human disease. However, the complete mutational spectrum of SV has not been routinely captured in disease association studies. We sequenced 689 participants with autism disorder (ASD) other developmental abnormalities construct a genome-wide map large SV. Using long-insert jumping libraries at 105X mean physical coverage linked-read whole-genome sequencing from 10X Genomics, we document seven major classes ~5 kb...
The mode of inheritance Alport syndrome (ATS) has long been controversial. In 1927, the disease was hypothesized as a dominant condition in which males were more severely affected than females. 1990, it considered an X-linked (XL) semidominant condition, due to COL4A5 mutations. Later on, rare autosomal recessive (AR) form COL4A3/COL4A4 mutations identified. An (AD) testified recently by description some large pedigrees but real existence this is still questioned many and its exact...
Abstract Purpose: XRCC1 and XPD play key roles in the repair of DNA lesions adducts. Contrasting findings have been reported on effect polymorphisms these genes response to platinum-based chemotherapy advanced non–small-cell lung cancer (NSCLC). This study aimed investigate relationship between Lys751Gln Arg399Gln genotypes outcome patients. Experimental Design: We genotyped 203 NSCLC 45 small-cell carcinoma (SCLC) patients for two polymorphisms. Most (81%) received a chemotherapy. Results:...
Background Array‐comparative genomic hybridization (array‐ CGH ) is a widely used technique to detect copy number variants ( CNVs associated with developmental delay/intellectual disability DD / ID ). Aims Identification of disorders in . Materials and methods We performed comprehensive array‐ investigation 1,015 consecutive cases combined literature mining, genetic evidence, evolutionary constraint scores, functional information order assess the pathogenicity Results identified non‐benign...
Abstract Phosphoinositides are lipids that play a critical role in processes such as cellular signalling, ion channel activity and membrane trafficking. When mutated, several genes encode proteins participate the metabolism of these give rise to neurological or developmental phenotypes. PI4KA is phosphoinositide kinase highly expressed brain essential for life. Here we used whole exome genome sequencing identify 10 unrelated patients harbouring biallelic variants caused spectrum conditions...
In primary hyperoxaluria type 1 (PH1), oxalate overproduction frequently causes kidney stones, nephrocalcinosis, and failure. As PH1 is caused by a congenital liver enzyme defect, combined liver-kidney transplantation (CLKT) has been recommended in patients with Nevertheless, systematic analyses on long-term outcomes are scarce. The merits of sequential over procedure regarding graft survival remain unclear as the place isolated (KT) for vitamin B6-responsive genotypes.We used OxalEurope...
Primary hyperoxaluria type 1 (PH1) has a highly heterogeneous disease course. Apart from the c.508G>A (p.Gly170Arg) AGXT variant, which imparts relatively favorable outcome, little is known about determinants of kidney failure. Identifying these crucial for management, especially in this era new therapies.In retrospective study 932 patients with PH1 included OxalEurope registry, we analyzed genotype-phenotype correlations as well impact nephrocalcinosis, urolithiasis, and urinary oxalate...
Abstract Object Although glucocorticoids are essential for health, several studies have shown that replacement in Addison's disease might be involved anthropometric and metabolic impairment, with increased cardiovascular risk, namely if conventional doses used. As the effects of mediated by glucocorticoid receptor, encoded NR 3 C 1 gene, different polymorphisms gene been linked to altered sensitivity general population as well patients obesity or syndrome. Design We investigated impact...
Hypophosphatasia (HPP) is a rare autosomal dominant or recessive metabolic disorder caused by mutations in the tissue nonspecific alkaline phosphatase gene (ALPL). To date, over 300 different ALPL have been identified. Disease severity widely variable with severe forms usually manifesting during perinatal and/or infantile periods while mild are sometimes only diagnosed adulthood remain undiagnosed. Common clinical features of HPP defects bone and tooth mineralization along biochemical...
Primary hyperoxaluria type I (PH1) is an autosomal-recessive inborn error of liver metabolism caused by alanine:glyoxylate aminotransferase (AGT) deficiency. In silico modeling in PH1 recapitulated accumulation known biomarkers as well alteration histidine and histamine levels, which we confirmed vitro, vivo, patients. AGT-deficient mice showed decreased vascular permeability, a readout vivo activity. Histamine reduction most likely increased catabolism the precursor histidine, triggered...
Infantile oxalosis is the most severe form of primary hyperoxaluria type 1 (PH1), with onset end-stage kidney disease (ESKD) during infancy. We aimed to analyze outcome these patients as our current understanding limited owing a paucity reports.A retrospective registry study was conducted using data from OxalEurope registry. All PH1 ESKD at age <1 year were analyzed.We identified 95 born between 1980 and 2018 infantile oxalosis. Median (interquartile range [IQR]) 0.4 (0.3-0.5) year. There 4...
Conventional karyotyping (550 bands resolution) is able to identify chromosomal aberrations >5-10 Mb, which represent a known cause of intellectual disability/developmental delay (ID/DD) and/or multiple congenital anomalies (MCA). Array-Comparative Genomic Hybridization (array-CGH) has increased the diagnostic yield 15-20%.In cohort 700 ID/DD cases with or without MCA, including 15 prenatal diagnoses, we identified subgroup seven patients normal karyotype and large complex rearrangement...
Background: Neurodevelopmental disorders comprise a clinically and genetically heterogeneous group of conditions that affect 2%-5% children represents public health challenge due to complexity the etiology. Only few patients with unexplained syndromic non-syndromic NDDs receive diagnosis through first-tier genetic tests as array-CGH search for FMR1 CGG expansion. The aim this study was evaluate clinical performance targeted next-generation sequencing (NGS) gene panel second-tier test in...