A5061077212- Retinal Development and Disorders
- Genomics and Rare Diseases
- Cancer Immunotherapy and Biomarkers
- Cellular transport and secretion
- Cancer Genomics and Diagnostics
- Chronic Lymphocytic Leukemia Research
- Ubiquitin and proteasome pathways
- Muscle Physiology and Disorders
- Connexins and lens biology
- Chemokine receptors and signaling
- Genetic Neurodegenerative Diseases
- interferon and immune responses
- vaccines and immunoinformatics approaches
- Antifungal resistance and susceptibility
- Neurogenetic and Muscular Disorders Research
- Telemedicine and Telehealth Implementation
- Hepatitis C virus research
- Monoclonal and Polyclonal Antibodies Research
- Advanced biosensing and bioanalysis techniques
- Immunotherapy and Immune Responses
- RNA regulation and disease
- Hepatocellular Carcinoma Treatment and Prognosis
- Retinal Diseases and Treatments
- Cytomegalovirus and herpesvirus research
- CRISPR and Genetic Engineering
University of Campania "Luigi Vanvitelli"
2020-2025
University of Sannio
2019
Biogem
2019
Inherited retinal diseases (IRDs) are the leading cause of vision loss in working-age population. We performed a retrospective epidemiological study to determine genetic basis IRDs large Italian cohort (n = 2790) followed at single referral center. provided, mainly by next generation sequencing, potentially conclusive molecular diagnosis for 2036 patients (from 1683 unrelated families). identified total 1319 causative sequence variations 132 genes, including 353 novel variants, and 866...
Cancer genome instability leads to accumulation of mutations which may result into tumor-specific mutated "neoantigens", not be affected by central T-cell tolerance. Such neoantigens are considered the optimal target for patient's anti-tumor T cell immunity as well personalized cancer immunotherapy strategies. However, only a minor fraction predicted relevant clinical outcome. In present study, prediction algorithm was applied using datasets RNA sequencing from all 377 Hepatocellular...
A nonsense mutation adds a premature stop signal that hinders any further translation of protein-coding gene, usually resulting in null allele. To investigate the possible exceptions, we used DMD gene as an ideal model. First, because dystrophin absence causes Duchenne muscular dystrophy (DMD), while its reduction Becker (BMD). Second, is X-linked and there no second allele can interfere males. Third, databases are accumulating reports on many mutations phenotypic data. Finally, may have...
Introduction: Inherited retinal diseases (IRDs) are the leading cause of vision loss in working‐age population and represent one most genetically heterogeneous, rare Mendelian diseases. This heterogeneity mirrors a spectrum clinical phenotypes which vary terms cell/tissue involvement, disease onset, severity, progression. Aim: To determine genetic basis IRD pathogenesis large Italian cohort (n = 2790) followed at single referral center. Methods: We performed retrospective epidemiological...
ABSTRACT Background Sensorineural hearing loss (SNHL) is a frequent manifestation of syndromic inherited retinal diseases (IRDs), exemplified by the very rare form autosomal‐dominant Leber congenital amaurosis with early onset deafness (LCAEOD; OMIM #617879). LCAEOD was first described in 2017 four families segregating heterozygous missense mutations TUBB4B , gene encoding β‐tubulin isotype. To date, only eight more similar ‐associated sensorineural disease (SND) have been reported. Most...
Abstract Tubulinopathies encompass neurodevelopmental disorders caused by mutations in genes encoding for different isotypes of α- and β-tubulins, the structural components microtubules. Less frequently, tubulins may underlie neurodegenerative disorders. In present study, we report two families, one with 11 affected individuals other a single patient, carrying novel, likely pathogenic, variant (p. Glu415Lys) TUBA4A gene (NM_006000). The phenotype, not previously described, is that spastic...
Abstract Background The development of e-health technologies for teleconsultation and exchange knowledge is one the core purposes European Reference Networks (ERNs), including ERN EURO-NMD rare neuromuscular diseases. Within ERNs, Clinical Patient Management System (CPMS) a web-based platform that seeks to boost active collaboration within across network, implementing data sharing. Through CPMS, it possible both discuss patient cases make patients’ available registries databases in secure...
Inherited retinal diseases (IRDs) are a group of rare monogenic with high genetic heterogeneity (pathogenic variants identified in over 280 causative genes). The diagnostic rate for IRDs is around 60%, mainly thanks to the routine application next-generation sequencing (NGS) approaches such as extensive gene panels or whole exome analyses. Whole-genome (WGS) has been reported improve this by revealing elusive variants, structural (SVs) and deep intronic (DIVs). We performed WGS on 33...
Abstract The AGBL5 gene encodes for the Cytoplasmic Carboxypeptidase 5 (CCP5), an α-tubulin deglutamylase that cleaves γ-carboxyl-linked branching point of glutamylated tubulin. To date, pathogenic variants in have been associated only with isolated retinitis pigmentosa (RP). Hearing loss has not reported -caused retinal disease. In this study, we performed exome sequencing probands eight unrelated families from Italy, Spain, Palestine, Switzerland, and Greece. All subjects had a clinical...
Abstract Predicted neoantigens can be relevant to the clinical outcome only when their affinity MHC I molecule is significantly higher than corresponding wild type peptide, and they do not show any homology unrelated self antigens (e.g. true predicted - TPNAs). In addition, may pathogen-derived antigens, representing a “super” neoantigen if patient immunologically primed. A novel algorithm for prediction of TPNAs presented by each patient's autologous HLA molecules was applied datasets all...
Predicted neoantigens can be relevant to the clinical outcome only when their affinity MHC I molecule is significantly higher than corresponding wild type peptide, and they do not show any homology unrelated self antigens (e.g. true predicted - TPNAs). In addition, may pathogen-derived antigens, representing a "super" neoantigen if patient immunologically primed. A novel algorithm for prediction of TPNAs presented by each patient's autologous HLA molecules was applied datasets all 377 HCC...