Ilaria Meloni
A5089081873- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Autism Spectrum Disorder Research
- SARS-CoV-2 and COVID-19 Research
- COVID-19 Clinical Research Studies
- PARP inhibition in cancer therapy
- Congenital heart defects research
- Cell Adhesion Molecules Research
- Genomics and Rare Diseases
- Chromatin Remodeling and Cancer
- Ubiquitin and proteasome pathways
- Immune Cell Function and Interaction
- CRISPR and Genetic Engineering
- RNA modifications and cancer
- Epigenetics and DNA Methylation
- Peptidase Inhibition and Analysis
- Platelet Disorders and Treatments
- Genetic Syndromes and Imprinting
- Dermatological and Skeletal Disorders
- interferon and immune responses
- Respiratory viral infections research
- Ocular Oncology and Treatments
- Inflammasome and immune disorders
- Machine Learning in Bioinformatics
- RNA regulation and disease
University of Siena
2014-2024
Azienda Ospedaliera Universitaria Senese
2004-2016
Ospedale Santa Maria alle Scotte
2015
KU Leuven
2008
Medica (Italy)
2000
Background: Recently, loss-of-function variants in TLR7 were identified two families which COVID-19 segregates like an X-linked recessive disorder environmentally conditioned by SARS-CoV-2. We investigated whether the represent tip of iceberg a subset male patients. Methods: This is nested case-control study we compared participants with extreme phenotype selected from Italian GEN-COVID cohort SARS-CoV-2-infected (<60 y, 79 severe cases versus 77 control cases). applied LASSO Logistic...
Abstract Toll-like receptors (TLR) are crucial components in the initiation of innate immune responses to a variety pathogens, triggering production pro-inflammatory cytokines and type I II interferons, which responsible for antiviral responses. Among different TLRs, TLR7 recognizes several single-stranded RNA viruses including SARS-CoV-2. We others identified rare loss-of-function variants X-chromosomal young men with severe COVID-19 no prior history major chronic diseases, that were...
Mutations in the MECP2 gene cause severe neurodevelopmental disorder called Rett syndrome. Preliminary evidence suggests that may be involved a broader phenotype than classical syndrome including preserved speech variants (PSV). Here we report clinical and mutation analysis of 18 PSV patients. Ten them had (55%). The features these girls have been characterized two subgroups defined. All slow recovery verbal praxic abilities, evident autistic behavior, normal head circumference. Six were...
Within the GEN-COVID Multicenter Study, biospecimens from more than 1000 SARS-CoV-2 positive individuals have thus far been collected in Biobank (GCB). Sample types include whole blood, plasma, serum, leukocytes, and DNA. The GCB links samples to detailed clinical data available Patient Registry (GCPR). It includes hospitalized patients (74.25%), broken down into intubated, treated by CPAP-biPAP, with O
Mutations in the X-linked methyl-CpG-binding protein 2 gene (MECP2) are found 70-80% of cases classical Rett syndrome (RTT) and about 50% preserved speech variant (PSV). This high percentage MECP2 mutations, especially RTT cases, suggests that another major locus is unlikely. Missed mutations may be due to limited sensitivity methodology used for mutation scanning and/or presence intronic mutations. In a double-copy gene, such as females, current methodologies (e.g., DGGE, SSCP, DHPLC,...
Rett syndrome (OMIM#312750) is a monogenic disorder that may manifest as large variety of phenotypes ranging from very severe to mild disease. Since there weak correlation between the mutation type in Xq28 disease-gene MECP2/X-inactivation status and phenotypic variability, we used this disease model unveil complex nature disorder. Whole exome sequencing was analyze functional portion genome two pairs sisters with syndrome. Although each pair had same MECP2 (OMIM*300005) balanced...
Summary Objective Rett syndrome is an X‐linked dominant neurodevelopmental disorder caused by mutations in the MECP 2 gene, and characterized cognitive communicative regression, loss of hand use, midline stereotypies. Epilepsy a core symptom, but literature controversial regarding genotype–phenotype correlation. Analysis data from large cohort should overcome this shortcoming. Methods Data Syndrome Networked Database on 1,248 female patients were included. phenotypic genotypic parameters,...
Evidence of oxidative stress has been reported in the blood patients with Rett syndrome (RTT), a neurodevelopmental disorder mainly caused by mutations gene encoding Methyl-CpG-binding protein 2. Little is known regarding redox status RTT cellular systems and its relationship morphological phenotype. In ( n = 16) we investigated four different markers, F 2 -Isoprostanes (F -IsoPs), 4 -Neuroprostanes -NeuroPs), nonprotein bound iron (NPBI), (4-HNE PAs), glutathione one most accessible cells,...
Significance We report the discovery of complete human interleukin-1 receptor (IL-1R)-associated kinase 1 (IRAK-1) deficiency resulting from a de novo Xq28 microdeletion encompassing MECP2 and IRAK1 in boy. Like many boys with defects, this patient died very early. IRAK-1 is component Toll-like (TLR)/IL-1R (TIR) signaling pathway. Unlike patients autosomal-recessive MyD88 or IRAK-4, two other components TIR pathway, presented no invasive bacterial infections. analyzed impact fibroblasts...
Abstract Cyclin-dependent kinase-like 5 disorder is a severe neurodevelopmental caused by mutations in the X-linked cyclin-dependent (CDKL5) gene. It predominantly affects females who typically present with early epileptic encephalopathy, global developmental delay, motor dysfunction, autistic features and sleep disturbances. To develop gene replacement therapy, we initially characterized human CDKL5 transcript isoforms expressed brain, neuroblastoma cell lines, primary astrocytes embryonic...
The combined impact of common and rare exonic variants in COVID-19 host genetics is currently insufficiently understood. Here, from whole-exome sequencing data about 4000 SARS-CoV-2-positive individuals were used to define an interpretable machine-learning model for predicting severity. First, converted into separate sets Boolean features, depending on the absence or presence each gene. An ensemble LASSO logistic regression models was identify most informative features with respect genetic...
The polymorphism L412F in TLR3 has been associated with several infectious diseases. However, the mechanism underlying this association is still unexplored. Here, we show that a marker of severity COVID-19. This increases sub-cohort males. Impaired macroautophagy/autophagy and reduced TNF/TNFα production was demonstrated HEK293 cells transfected TLR3L412F-encoding plasmid stimulated specific agonist poly(I:C). A statistically significant survival at 28 days shown COVID-19 patients treated...
Abstract Mutations in MECP2 gene account for approximately 80% of cases Rett syndrome (RTT), an X‐linked severe developmental disorder affecting young girls, as well most Preserved Speech Variant (PSV), a mild RTT variant which autistic behavior is common. The aim this study to determine whether mutations are responsible PSV only or may cause other forms disorders. We screened by SSCP 19 girls with clinical diagnosis autism, two them fulfilling the criteria. A pathogenic mutation was found...
Abstract The present report describes a 7‐year‐old girl with de novo 3 Mb interstitial deletion of chromosome 14q12, identified by oligo array‐CGH. region is gene poor and contains only five genes two them, FOXG1B PRKD1 being deleted also in previously reported case very similar phenotype. Both patients prominent metopic suture, epicanthic folds, bulbous nasal tip, tented upper lip, everted lower lip large ears clinical course like Rett syndrome, including normal perinatal period, postnatal...