A5030637179- SARS-CoV-2 and COVID-19 Research
- Lymphatic System and Diseases
- Inflammasome and immune disorders
- Long-Term Effects of COVID-19
- Sympathectomy and Hyperhidrosis Treatments
- Extracellular vesicles in disease
- Skin Diseases and Diabetes
- MicroRNA in disease regulation
- Cardiovascular Effects of Exercise
- Hippo pathway signaling and YAP/TAZ
- Retinal Development and Disorders
- Diet and metabolism studies
- COVID-19 Clinical Research Studies
- Body Contouring and Surgery
- Folate and B Vitamins Research
- Assisted Reproductive Technology and Twin Pregnancy
- Genetic Syndromes and Imprinting
- Cardiomyopathy and Myosin Studies
- Reproductive Biology and Fertility
- Nuclear Receptors and Signaling
- Skin and Cellular Biology Research
- Retinal and Macular Surgery
- Hedgehog Signaling Pathway Studies
- Viral Infections and Immunology Research
- Connexins and lens biology
Fondazione Santa Lucia
2020-2023
University of Rome Tor Vergata
2023
Angiotensin-converting enzyme 2 (ACE2) has been recognized as the entry receptor of novel severe acute respiratory syndrome coronavirus (SARS-Cov-2). Structural and sequence variants in ACE2 gene may affect its expression different tissues determine a differential response to SARS-Cov-2 infection COVID-19-related phenotype. The present study investigated genetic variability terms single nucleotide (SNVs), copy number variations (CNVs), quantitative loci (eQTLs) cohort 268 individuals...
In the present study, we investigated distribution of genetic variations in IL6 and IL6R genes, which may be employed as prognostic pharmacogenetic biomarkers for COVID-19 neurodegenerative diseases. The study was performed on 271 samples representative Italian general population identified seven variants (rs140764737, rs142164099, rs2069849, rs142759801, rs190436077, rs148171375, rs13306435) five (rs2228144, rs2229237, rs2228145, rs28730735, rs143810642) within IL6R, respectively. These...
Abstract The Angiotensin-converting enzyme 2 (ACE2) has been recently recognized as the entry receptor of novel pathogenic Severe Acute Respiratory Syndrome Coronavirus (SARS-Cov-2). presence structural and sequence variants in ACE2 gene may affect its expression different tissues determine a differential response to SARS-Cov-2 infection COVID19-related phenotype. present study investigated genetic variability terms Single Nucleotide Variants (SNVs), Copy Number Variations (CNVs)...
Abstract In the present study, we investigated distribution of genetic variations in IL6 and IL6R genes, which may be employed as prognostic pharmacogenetic biomarkers for COVID-19 neurodegenerative diseases. The study was performed on 271 samples representative Italian general population identified seven variants (rs140764737, rs142164099, rs2069849, rs142759801, rs190436077, rs148171375, rs13306435) five (rs2228144, rs2229237, rs2228145, rs28730735, rs143810642) within , respectively....
Abstract Background We developed a Next‐Generation‐Sequencing (NGS) protocol to screen the most frequent genetic variants related lymphedema and group of candidate genes. The aim study was find cause in analyzed patients. Methods sequenced cohort 246 Italian patients with lymphatic malformations. In first step, we genes known be linked lymphedema: 235 out tested negative for underwent testing genes, including NOTCH1 gene, selected from database mouse models. also performed silico analysis...
The PROX1 gene is specifically expressed in a subpopulation of endothelial cells that, by budding and sprouting, give rise to the lymphatic system. It also plays critical role neurogenesis during development many organs, such as eye lens, liver, pancreas.We used next-generation sequencing (NGS) sequence DNA cohort 246 Italian patients with malformations. We first investigated 29 known disease-causing genes: 235 tested negative were then retested for group candidate genes, including PROX1,...
Retinal dystrophies related to damaging variants in the cadherin-related family member 1 (CDHR1) gene are rare and phenotypically heterogeneous. Here, we report a longitudinal (three-year) structure-function evaluation of patient with CDHR1-related retinal dystrophy.A 14-year-old girl was evaluated between 2019 2022. An ophthalmological assessment, including color vision, perimetry, electroretinography, multimodal imaging retina, performed periodically every six months. Next-generation...