Annarita Giliberti
A5032740834- SARS-CoV-2 and COVID-19 Research
- COVID-19 Clinical Research Studies
- PARP inhibition in cancer therapy
- Genetics and Neurodevelopmental Disorders
- CRISPR and Genetic Engineering
- Respiratory viral infections research
- Renal and related cancers
- Cell Adhesion Molecules Research
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Sugarcane Cultivation and Processing
- Machine Learning in Bioinformatics
- interferon and immune responses
- RNA Interference and Gene Delivery
- Platelet Disorders and Treatments
- Tumors and Oncological Cases
- BRCA gene mutations in cancer
- Spectroscopy and Chemometric Analyses
- Spectroscopy Techniques in Biomedical and Chemical Research
- Vitamin D Research Studies
- Vascular Malformations and Hemangiomas
- Testicular diseases and treatments
- Infectious Encephalopathies and Encephalitis
- RNA modifications and cancer
- Inflammasome and immune disorders
Meyer Children's Hospital
2022-2025
University of Siena
2019-2023
University of Padua
2023
Azienda Ospedaliera Universitaria Senese
2019-2020
Abstract In December 2019, an initial cluster of interstitial bilateral pneumonia emerged in Wuhan, China. A human-to-human transmission was assumed and a previously unrecognized entity, termed coronavirus disease-19 (COVID-19) due to novel (SARS-CoV-2) described. The infection has rapidly spread out all over the world Italy been first European country experiencing endemic wave with unexpected clinical severity comparison Asian countries. It shown that SARS-CoV-2 utilizes angiotensin...
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...
Background Increased vitamin D levels, as reflected by 25-hydroxy (25OHD) measurements, have been proposed to protect against COVID-19 based on in vitro, observational, and ecological studies. However, levels are associated with many confounding variables, thus associations described date may not be causal. Vitamin Mendelian randomization (MR) studies provided results that concordant large-scale randomized trials. Here, we used 2-sample MR assess evidence supporting a causal effect of...
Many pathogens exploit host cell-surface glycans. However, precise analyses of glycan ligands binding with heavily modified pathogen proteins can be confounded by overlapping sugar signals and/or compounded known experimental constraints. Universal saturation transfer analysis (uSTA) builds on existing nuclear magnetic resonance spectroscopy to provide an automated workflow for quantitating protein-ligand interactions. uSTA reveals that early-pandemic, B-origin-lineage severe acute...
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
Clinical and molecular characterization by Whole Exome Sequencing (WES) is reported in 35 COVID-19 patients attending the University Hospital Siena, Italy, from April 7 to May 7, 2020. Eighty percent of required respiratory assistance, half them being on mechanical ventilation. Fiftyone had hepatic involvement hyposmia was ascertained 3 patients. Searching for common genes collapsing methods against 150 WES controls Italian population failed give straightforward statistically significant...
Alport syndrome (AS) is an inherited genetic disorder characterized by range of alterations from glomerular basement membrane abnormalities up to end-stage renal disease. Pathogenic variants in the collagen α3, α4, and α5 encoding genes are causative both autosomal dominant X-linked forms AS. Podocytes only cells that able produce COL(IV)a3-a4a5 heterotrimer. We have previously demonstrated how it possible isolate podocyte-lineage urine patients, providing easily accessible cellular model...
The clinical presentation of COVID-19 is extremely heterogeneous, ranging from asymptomatic to severely ill patients. Thus, host genetic factors may be involved in determining disease and progression. Given that carriers single cystic fibrosis (CF)-causing variants the
Intellectual disability (ID) and autism spectrum disorder (ASD) belong to neurodevelopmental disorders occur in ~1% of the general population. Due disease heterogeneity, identifying etiology ID ASD remains challenging. Exome sequencing (ES) offers opportunity rapidly identify variants associated with these two entities that often co-exist. Here, we performed ES a cohort 200 patients: 84 isolated 116 ASD. We identified 41 pathogenic detection rate 22% (43/200): 39% patients (33/84) 9% ID/ASD...
ABSTRACT In 2016, Sifrim and colleagues described the first group of patients carrying heterozygous pathogenic variants in CDK13 sharing major clinical features mainly consisting congenital heart defects, intellectual disability peculiar facial (Congenital Heart Defects, Dysmorphic Facial Features, Intellectual Developmental Disorder; CHDFIDD, OMIM # 617360). This condition is generally referred to as ‐related disorder, since then other reports have provided further molecular information....
Abstract Background Increased vitamin D levels, as reflected by 25OHD measurements, have been proposed to protect against COVID-19 disease based on in-vitro , observational, and ecological studies. However, levels are associated with many confounding variables thus associations described date may not be causal. Vitamin Mendelian randomization (MR) studies provided results that concordant large-scale randomized trials. Here, we used two-sample MR assess evidence supporting a causal effect of...
ABSTRACT Clinical and molecular characterization by Whole Exome Sequencing (WES) is reported in 35 COVID-19 patients attending the University Hospital Siena, Italy, from April 7 to May 7, 2020. Eighty percent of required respiratory assistance, half them being on mechanical ventilation. Fiftyone had hepatic involvement hyposmia was ascertained 3 patients. Searching for common genes collapsing methods against 150 WES controls Italian population failed give straightforward statistically...
Objectives Somatic mosaicism of PIK3CA gene is currently recognized as the molecular driver Klippel–Trenaunay syndrome. However, given limitation current technologies, somatic mutations are detected only in a limited proportion syndrome cases and tissue biopsy remains an invasive high risky, sometimes life-threatening, diagnostic procedure. Next generation sequencing liquid using cell-free DNA has emerged innovative non-invasive approach for early detection monitoring cancer. This approach,...
Hereditary Breast and Ovarian Cancer (HBOC) syndrome is a condition in which the risk of breast ovarian cancer higher than general population. The prevalent pathogenesis attributable to inactivating variants
Host genetics is an emerging theme in COVID-19. A handful of common polymorphisms and some rare variants have been identified, either through GWAS or candidate gene approach, respectively. However, organic model still missing. Here, we propose a that takes into account both coding variants. This has piloted cohort 1,318 Italian SARS-CoV-2 positive individuals. Ordered logistic regression clinical WHO grading on age, stratified by sex, was used to obtain binary phenotypic classification...
Abstract We employed a multifaceted computational strategy to identify the genetic factors contributing increased risk of severe COVID-19 infection from Whole Exome Sequencing (WES) dataset cohort 2000 Italian patients. coupled stratified k -fold screening, rank variants more associated with severity, training multiple supervised classifiers, predict severity based on screened features. Feature importance analysis tree-based models allowed us 16 highest support which, together age and gender...
Abstract Within the GEN-COVID Multicenter Study, biospecimens from more than 1,000 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 O2 supplementation, without respiratory support (9.5%, 18.4%, 31.55% 14.8,...
Abstract Host genetics is an emerging theme in COVID-19 and few common polymorphisms some rare variants have been identified, either by GWAS or candidate gene approach, respectively. However, organic model still missing. Here, we propose a new that takes into account germline applied cohort of 1,300 Italian SARS-CoV-2 positive individuals. Ordered logistic regression clinical WHO grading on sex age was used to obtain binary phenotypic classification. Genetic variability from WES synthesized...
Background. Alport syndrome is a hereditary nephropathy caused by mutations in collagen IV genes and characterized ultrastructural lesions of the glomerular basement membrane. Some patients have negative family history with apparently de novo mutations. Although somatic mosaicism has been postulated, as cryptic cannot be detected from mutational screening on peripheral blood samples, cases kidney-confined mosaic form missed. Methods. We report case 24-year-old male patient X-linked diagnosis...