A5016687727- Cystic Fibrosis Research Advances
- Neonatal Respiratory Health Research
- Sperm and Testicular Function
- Congenital Ear and Nasal Anomalies
- RNA Research and Splicing
- Reproductive Biology and Fertility
- Cancer-related molecular mechanisms research
- RNA modifications and cancer
- Nerve injury and regeneration
- Epigenetics and DNA Methylation
- Receptor Mechanisms and Signaling
- Advanced biosensing and bioanalysis techniques
- Peroxisome Proliferator-Activated Receptors
- Telomeres, Telomerase, and Senescence
- Genetics and Neurodevelopmental Disorders
- Dialysis and Renal Disease Management
- Autophagy in Disease and Therapy
- Molecular Communication and Nanonetworks
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Tracheal and airway disorders
- Urinary Bladder and Prostate Research
- Neurotransmitter Receptor Influence on Behavior
- Chronic Kidney Disease and Diabetes
Sapienza University of Rome
2018-2024
Policlinico Umberto I
2022-2023
Question Cystic fibrosis (CF) is due to pathogenic variants in the cystic transmembrane conductance regulator (CFTR) gene. Recent improvements have enabled pharmacological therapy aiming at restoring mutated CFTR expression and function. “modulators” revolutionised CF therapeutic landscape, particularly last approved, Trikafta. This drug combination indicated by United States Food Drug Administration very recently European Medicines Agency for genotypes carrying least one copy of with...
The evaluation of morpho-functional sperm characteristics alone is not enough to explain infertility or predict the outcome Assisted Reproductive Technologies (ART): more sensitive diagnostic tools are needed in clinical practice. aim present study was analyze Sperm DNA Fragmentation (SDF) and sperm-borne miR-34c-5p miR-449b-5p levels men couples undergoing ART, order investigate any correlations with fertilization rate, embryo quality development. Male partners (n = 106) were recruited....
Cystic fibrosis (CF) is caused by defects of the cystic transmembrane conductance regulator (CFTR) gene. CFTR-modulating drugs may overcome specific defects, such as case Trikafta, which a clinically approved triple combination Elexacaftor, Tezacaftor and Ivacaftor (ETI) that exhibited strong ability to rescue function most frequent F508del pathogenic variant even in genotypes with mutated allele single copy. Nevertheless, rare lacking are still not eligible for targeted therapies. Via...
On behalf of SIFC working group for the revision Consensus document about genetic analysis in cystic fibrosis.pathogen detection, point-of-care (POC) testing and clinical isolate identification with MALDI-TOF MS.Despite advent cutting edge molecular-based (real time PCR, 16S rRNA sequencing, next-generation sequencing) protein-based microbial tools, there is an enormous need to continue culture-based assess susceptibility all antimicrobials identify pathogens mutations that may escape...
Genetic features of alcohol dependence have been extensively investigated in recent years. A large body studies has underlined the important role genetic variants not only metabolic pathways but also neurobiology dependence, mediated by neuronal circuits regulating reward and craving. Serotonin transporter (5-HTT), encoded SLC6A4 gene (Solute carrier family 6-neurotransmitter transporter-member 4), is targeted antidepressant drugs such as selective serotonin reuptake inhibitors (SSRIs) plays...
Head and neck squamous cell carcinoma (HNSCC) arises from the mucosal epithelium in oral cavity, pharynx, sino-nasal region, larynx. Laryngeal (LSCC) represents one-third of all head cancers. Dysregulated RNA-related pathways define an important molecular signature this aggressive carcinoma. The Survival Motor Neuron (SMN) protein regulates fundamental aspects RNA metabolism but, curiously, its role cancer is virtually unknown. For first time, here, we focus on SMN context. We conducted a...
Evidence shows that there is a synergistic, bidirectional association between cancer and aging with many shared traits. Age itself risk factor for the onset of most cancers, while evidence suggests its treatments might accelerate by causing genotoxic cytotoxic insults. Aging has been associated series alterations can be linked to cancer: i) genomic instability caused DNA damage or epigenetic coupled repair errors, which lead progressive accumulation mutations; ii) telomere attrition possible...
Abstract The pathogenic mechanism of cystic fibrosis (CF) includes the functional interaction transmembrane conductance regulator (CFTR) protein with epithelial sodium channel (ENaC). reduction ENaC activity may constitute a therapeutic option for CF. This hypothesis was evaluated using drugs that target protease-dependent activation and transcriptional its coding genes. To this aim we used: camostat, protease inhibitor; S-adenosyl methionine (SAM), showed to induce DNA hypermethylation;...
Urinalysis is commonly used as a screening tool for kidney disease. In many cases, the dipstick urine assay includes assessment of albumin/protein and creatinine; consequently, value their ratio available on section report. Identification albuminuria/proteinuria at early stages an important issue to prevent or least delay onset chronic disease (CKD), failure, progression cardiovascular damage linked kidney's loss function. Sensitive specific diagnostic methods are required such biomarker:...
In the precision medicine era of cystic fibrosis (CF), therapeutic interventions, by so-called modulators, target transmembrane conductance regulator (CFTR) protein. The levels targetable CFTR proteins are a main variable in success patient-specific therapy. turn, protein level depends, at least part, on mRNA. Many mechanisms can modulate mRNA level, for example, transcriptional rate, stability mRNA, epigenetics, and pathogenic variants that affect production degradation. Independently from...
Two novel and related pathogenic variants of the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene were structurally functionally characterized. These alterations have not been previously described in literature. patients with diagnosis (CF) based on presence one mutated allele, p.Phe508del, pathological sweat test clinical symptoms studied. To complete genotypes both patients, an extensive genetic functional analysis CFTR was performed. Extensive characterization confirmed...
Head and neck squamous cell carcinoma (HNSCC) arise from the mucosal epithelium in oral cavity, pharynx, sino-nasal region, larynx. Laryngeal (LSCC) represents one-third of all head cancers. Dysregulated RNA-related pathways define an important molecular signature this aggressive carcinoma. The Survival Motor Neuron (SMN) protein regulates fundamental aspects RNA metabolism but, curiously, its role cancer is virtually unknown. For first time, here we focus on SMN context. We conducted a...