A5081368525- COVID-19 Clinical Research Studies
- SARS-CoV-2 and COVID-19 Research
- Adipokines, Inflammation, and Metabolic Diseases
- Glioma Diagnosis and Treatment
- Immune Cell Function and Interaction
- PARP inhibition in cancer therapy
- Inflammasome and immune disorders
- Neuroblastoma Research and Treatments
- Venous Thromboembolism Diagnosis and Management
- RNA Interference and Gene Delivery
- Antimicrobial Peptides and Activities
- Cancer therapeutics and mechanisms
- Respiratory viral infections research
- interferon and immune responses
- Drug Transport and Resistance Mechanisms
- Genetics and Neurodevelopmental Disorders
- Amyotrophic Lateral Sclerosis Research
- Neuroinflammation and Neurodegeneration Mechanisms
- Aluminum toxicity and tolerance in plants and animals
- Dermatological and Skeletal Disorders
- Toxin Mechanisms and Immunotoxins
- Biochemical and Structural Characterization
- Liver Disease Diagnosis and Treatment
- Machine Learning in Bioinformatics
- Heavy Metal Exposure and Toxicity
University of Siena
2019-2023
City Hospital No. 40
2019
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...
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...
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
Glioblastoma (GBM) is one of the most aggressive and lethal malignancy central nervous system. Temozolomide standard care for gliomas, frequently results in resistance to drug tumor recurrence. Therefore, further research required development effective drugs order guarantee specific treatments succeed. The aim current study was investigate effects nerve growth factor (NGF), human cathelicidin (LL-37), protegrin-1 (PG-1), temozolomide on bioenergetic function mitochondria, clonogenicity,...
Brain cancer treatment, where glioblastoma represents up to 50% of all CNS malignancies, is one the most challenging calls for neurooncologists. The major driver this study was a search new approaches treatment glioblastoma. We tested live
A cytokine storm, autoimmune features and dysfunctions of myeloid cells significantly contribute to severe coronavirus disease 2019 (COVID-19), caused by the acute respiratory syndrome 2 (SARS-CoV-2) infection. Genetic background host seems be partly responsible for phenotype genes related innate immune response seem critical determinants. The C9orf72 gene has a role in vesicular trafficking, autophagy regulation lysosome functions, is highly expressed involved regulating lysosomal...
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...
Loss of function mutations in PCDH19 gene causes an X-linked, infant-onset clustering epilepsy, associated with intellectual disability and autistic features. The unique pattern inheritance includes random X-chromosome inactivation, which leads to pathological tissue mosaicism. Females carrying are affected, while males have a normal phenotype. No cure is presently available for this disease.Fibroblasts from female patient frameshift mutation were reprogrammed into human induced pluripotent...
Glioblastoma (GBM) is an aggressive and lethal malignancy of the central nervous system with a median survival rate 15 months. We investigated combined anticancer effects nerve growth factor (NGF), cathelicidin (LL-37), protegrin-1 (PG-1) chemotherapy (temozolomide, doxorubicin, carboplatin, cisplatin, etoposide) in glioblastoma U251 cell line to overcome limitations conventional guarantee specific treatments succeed. The MTT (3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide)...
ABSTRACT 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 autophagy and reduced TNFα production was demonstrated HEK293 cells transfected TLR3-L412F plasmid stimulated specific agonist poly(I:C). A statistically significant survival at 28 days shown COVID-19 patients treated autophagy-inhibitor...
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...
Abstract According to modern classification, there are two forms of inherited ichthyoses: syndromic and non-syndromic, each them consists more than ten different nosologies. The commonest types the ichthyosis X-linked recessive (prevalence 1/2000–6000 in men) autosomal dominant, or vulgaris with incomplete penetrance (1/250–1000). form is associated mutations steroid sulfatase STS gene, it noteworthy that a full deletion gene 90% cases. Ichthyosis caused by heterozygous FLG encoding...
Abstract Thromboembolism is a frequent cause of severity and mortality in COVID-19. However, the etiology this phenomenon not well understood. A cohort 1,186 subjects, from GEN-COVID consortium, infected by SARS-CoV-2 with different were stratified sex adjusted age. Then, common coding variants whole exome sequencing mined LASSO logistic regression. The homozygosity cell adhesion molecule P-selectin gene ( SELP) rs6127 (c.1807G>A; p.Asp603Asn) which increases platelet activation found to...
Objectives Oncological diseases are an urgent medical and social problem. The chemotherapy induces not only the death of tumor cells but also contributes to development their multidrug resistance healthy tissues. In this regard, search for new pharmacological substances with anticancer activity against drug-resistant tumors is utmost importance. present study we primarily investigated correlation between expression TrkA p75 receptors nerve growth factor (NGF) cisplatin or temozolomide...
Abstract Objectives Oncological diseases are an urgent medical and social problem. The chemotherapy induces not only the death of tumor cells but also contributes to development their multidrug resistance healthy tissues. In this regard, search for new pharmacological substances with anticancer activity against drug-resistant tumors is utmost importance. present study we primarily investigated correlation between expression TrkA p75 receptors nerve growth factor (NGF) cisplatin or...
In review discusses the phenomenon of drug resistance GB in context expression ABC family transporter proteins and processes proliferation, angiogenesis, recurrence death. The emphasis is on identifying for molecular targets among growth factors, receptors, signal transduction proteins, microRNAs, transcription proto-oncogenes, tumor suppressor genes their polymorphic variants (SNPs) development creation targeted anticancer drugs.