A5060383473- Thyroid Cancer Diagnosis and Treatment
- Cancer-related gene regulation
- RNA modifications and cancer
- Genetics and Neurodevelopmental Disorders
- Cancer-related molecular mechanisms research
- Histone Deacetylase Inhibitors Research
- Genomic variations and chromosomal abnormalities
- Protein Degradation and Inhibitors
- Epigenetics and DNA Methylation
- RNA Research and Splicing
- Ubiquitin and proteasome pathways
- Congenital heart defects research
- Genomics and Rare Diseases
- Cancer-related Molecular Pathways
- Immunodeficiency and Autoimmune Disorders
- Developmental Biology and Gene Regulation
- Renal and related cancers
- Polar Research and Ecology
- Prenatal Screening and Diagnostics
- X-ray Diffraction in Crystallography
- Metal complexes synthesis and properties
- Genomics and Chromatin Dynamics
- RNA and protein synthesis mechanisms
- Crystallization and Solubility Studies
- Head and Neck Cancer Studies
University of Udine
2015-2025
Ospedale Santa Maria della Misericordia di Udine
2017-2023
Erasmus University Rotterdam
2022
University of Antwerp
2022
Sapienza University of Rome
2017-2019
Policlinico Umberto I
2017
Phenotypic and genotypic heterogeneity in congenital ocular diseases, especially anterior segment dysgenesis (ASD), have created challenges for proper diagnosis classification of diseases. Over the last decade, genomic research has indeed boosted our understanding molecular basis ASD genes associated with both autosomal dominant recessive patterns inheritance been described a wide range expressivity. Here we describe characterization cohort 162 patients displaying isolated or syndromic...
Abstract Hu antigen R (HuR) is indeed one of the most studied RNA-binding protein (RBP) since its fundamental role both in tumorigenesis and cancer progression. For this reason, downregulation HuR levels or inhibition biological function are, nowadays, attractive goals research. Here, we examined antitumor effects CMLD-2 four thyroid cell lines (SW1736, 8505 C, BCPAP K1). Indeed, competitively binds disrupting interaction with RNA-targets. 35 μM CLMD-2 produced a significant viability,...
The TSH receptor (TSHR) and sodium/iodide symporter (NIS) are key players in radioiodine-based treatment of differentiated thyroid cancers. While NIS ( SLC5AS ) expression is diminished/lost most tumors, TSHR usually preserved. To examine the mechanisms that regulate genes tumor cells, we analyzed their after inhibition ras–BRAF–MAPK PI3K–Akt–mTOR pathways epigenetic control occurring at gene promoter level four human cancer cell lines. Quantitative real-time PCR was used to measure mRNA...
Anaplastic thyroid carcinoma (ATC) is an extremely aggressive cancer subtype, refractory to the current medical treatment. Among various epigenetic anticancer drugs, bromodomain and extra-terminal inhibitors (BETis) are considered be appealing novel class of compounds. BETi target BET proteins that act as regulators gene transcription, interacting with histone acetyl groups. The goal this study delineate which pathway underlies biological effects derived from inhibition, in order find new...
The high frequency of hTERT-promoting mutations and the increased expression hTERT mRNA in anaplastic thyroid cancer (ATC) make TERT a suitable molecular target for treatment this lethal neoplasm. In study, we encapsulated an anti-hTERT oligonucleotide biocompatible nanoparticles analyzed effects novel pharmaceutical preparation preclinical models ATC. Biocompatible were obtained acidified aqueous solution containing chitosan, oligoRNAs, poloxamer 188 as stabilizer. these (Na-siTERT) tested...
The continuous emergence of SARS-CoV-2 variants and subvariants poses significant public health challenges. latest designated subvariant JN.1, with all its descendants, shows more than 30 mutations in the spike gene. JN.1 has raised concerns due to genomic diversity potential enhance transmissibility immune evasion. This study aims analyse molecular characteristics JN.1-related lineages (JN.1*) identified Italy from October 2023 April 2024 evaluate neutralization activity against a subsample...
Anaplastic thyroid carcinoma (ATC) is a very aggressive human malignancy, having marked degree of invasiveness and no features differentiation. It known that either HDAC inhibitors or PARP have antiproliferative effects on cancer cells. Therefore, in this study the possible synergy between two types compounds has been investigated. The ATC-derived cell line SW1736 treated with inhibitor suberoylanilide hydroxamic acid (SAHA) PJ34, alone combination. In terms viability, combination index...
The chiral cationic complex [Ru(η
PAX8 is a thyroid-specific transcription factor whose expression dysregulated in thyroid cancer. A recent study using conditional knock-out mouse model identified 58 putative target genes. In the present study, we evaluated of 11 these genes normal and tumoral tissues from patients with papillary cancer (PTC). ATP1B1, GPC3, KCNIP3, PRLR transcript levels tumor were significantly lower PTCs than NT, whereas LCN2, LGALS1 SCD1 was upregulated PTC compared NT. Principal component analysis most...
Despite improvements in oral squamous cell carcinoma (OSCC) management, survival rates remain relatively low and novel anti-neoplastic agents are needed. Bromodomain extra-terminal (BET) inhibitors proved to be promising for cancer treatment. We investigated the effects of three BET (JQ1, IBET-151, IBET-762) on SCC-25 line primary culture.Cell viability was evaluated by MTT. Protein levels MCM5 cleaved-PARP were estimated Western blot. Clonogenic migratory abilities determined colony forming...
Abstract In the last decade, an incredible improvement has been made in elucidating genetic bases of cardiomyopathies. Here we report impact either European Society Cardiology (ESC) guidelines or use whole exome sequencing (WES) terms a number variants uncertain significance (VUS) and missed diagnoses series 260 patients affected by inherited cardiac disorders. Samples were analyzed using targeted gene panel 128 cardiac‐related genes and/or WES subset patients, with three‐tier approach....
RNA binding proteins (RBPs) play a central role in cell physiology and pathology. Among them, HuR is nuclear RBP, which shuttles to the cytoplasm allow its targets processing. over-expression delocalization are often associated transformation. Numerous cancers display increased protein levels high cytoplasmic has been with worse prognosis.In our study, we first evaluated expression normal cancer thyroid tissues then function lines. over-expressed all tumor tissues; detected carcinomas....
N6-methyladenosine (m6A) is the most abundant internal modification of RNA in eukaryotic cells, and, recent years, it has gained increasing attention. A good amount data support involvement m6A tumorigenesis, tumor progression, and metastatic dissemination. However, role this thyroid cancer still remains poorly investigated. In study, m6A-related methylation profiles are compared between a normal cell line different lines. With approach, was possible to identify patterns models. Furthermore,...
Anaplastic thyroid cancer (ATC) is a very rare, but extremely aggressive form of malignancy, responsible for the highest mortality rate registered cancer. Treatment with taxanes (such as paclitaxel) an important approach in counteracting ATC or slowing its progression tumors without known genetic aberrations those which are unresponsive to other treatments. Unfortunately, resistance often develops and, this reason, new therapies that overcome taxane needed. In study, effects inhibition...
Anaplastic thyroid cancer (ATC) constitutes one of the most aggressive types human solid cancer, and is characterized by absence differentiation features a marked degree invasiveness. We have previously demonstrated that RNA-binding protein Hu antigen R (HuR) overexpressed in carcinoma; thus, biological role this was investigated present study using ATC cell lines SW1736 8505C. In both lines, HuR levels were higher compared with non-tumorigenic line Nthy-ori-3.1. silencing RNA interference...
Pulmonary capillary hemangiomatosis (PCH) is an uncommon pulmonary disorder, with variable clinical features depending on which lung structure affected, and it usually linked to arterial hypertension. Congenital PCH has been very rarely described and, so far, the only causative gene identified EIF2AK4, encodes for a translation initiation factor. However, not all cases might carry mutation in this gene. We report cytogenetic characterization of patient (male, newborn, first child healthy...
High cytotoxic and antimetastatic activities against anaplastic thyroid cancer are displayed by cationic complexes [RuX(CO)(dppb)(phen)]Y (X = Y OAc, OPiv, SAc, NCS; X Cl PF<sub>6</sub>).