Dario Cocciadiferro
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View article: Further Evidence of Early-Onset Osteoporosis and Bone Fractures as a New FGFR2-Related Phenotype
Further Evidence of Early-Onset Osteoporosis and Bone Fractures as a New FGFR2-Related Phenotype Open
Primary osteoporosis in children and young adults often suggests a monogenic disease affecting bone microarchitecture and bone mineral density. While Osteogenesis Imperfecta (OI) is the most recognized genetic cause of recurrent fractures,…
View article: Further Evidence of Early-Onset Osteoporosis and Bone Fractures as a New <i>FGFR2</i>-Related Phenotype
Further Evidence of Early-Onset Osteoporosis and Bone Fractures as a New <i>FGFR2</i>-Related Phenotype Open
Background: primary osteoporosis in children and young adults often suggests a monogenic disease affecting bone microarchitecture and bone mineral density. While Osteogenesis Imperfecta (OI) is the most recognized genetic cause of recurren…
View article: Molecular and clinical Insights into KMT2E-Related O'Donnell-Luria-Rodan syndrome in a novel patient cohort
Molecular and clinical Insights into KMT2E-Related O'Donnell-Luria-Rodan syndrome in a novel patient cohort Open
O'Donnell-Luria-Rodan (ODLURO) syndrome is an autosomal dominant neurodevelopmental disorder mainly characterized by global development delay/intellectual disability, white matter abnormalities, and behavioral manifestations. It is caused …
View article: Widening the infantile hypotonia with psychomotor retardation and characteristic Facies-1 Syndrome’s clinical and molecular spectrum through NALCN in-silico structural analysis
Widening the infantile hypotonia with psychomotor retardation and characteristic Facies-1 Syndrome’s clinical and molecular spectrum through NALCN in-silico structural analysis Open
Introduction Infantile hypotonia with psychomotor retardation and characteristic facies-1 (IHPRF1, MIM#615419) is a rare, birth onset, autosomal recessive disorder caused by homozygous or compound heterozygous truncating variants in NALCN …
View article: Two Novel Biallelic Variants in the FARSA Gene: The First Italian Case and a Literature Review
Two Novel Biallelic Variants in the FARSA Gene: The First Italian Case and a Literature Review Open
Background/Objectives: The FARSA gene encodes for the catalytic α subunit of Cytoplasmic phenylalanine-tRNA synthetase (FARS1), an essential enzyme for protein biosynthesis in transferring its amino acid component to tRNAs. Biallelic patho…
View article: Exploiting in silico structural analysis to introduce emerging genotype–phenotype correlations in DHCR24-related sterol biosynthesis disorder: a case study
Exploiting in silico structural analysis to introduce emerging genotype–phenotype correlations in DHCR24-related sterol biosynthesis disorder: a case study Open
Desmosterolosis is a rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, severe developmental delay, progressive epileptic encephalopathy, and elevated levels of desmosterol caused by bialle…
View article: Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region
Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region Open
Chromosomal submicroscopic imbalances represent well-known causes of neurodevelopmental disorders. In some cases, these can cause specific autosomal dominant syndromes, with high-to-complete penetrance and de novo occurrence of the variant…
View article: COVID-19: S-Peptide RBD 484–508 Induces IFN-γ T-Cell Response in Naïve-to-Infection and Unvaccinated Subjects with Close Contact with SARS-CoV-2-Positive Patients
COVID-19: S-Peptide RBD 484–508 Induces IFN-γ T-Cell Response in Naïve-to-Infection and Unvaccinated Subjects with Close Contact with SARS-CoV-2-Positive Patients Open
Despite the availability on the market of different anti-SARS-CoV-2 vaccines, there are still unanswered questions on whether they can stimulate long-lasting protection. A deep understanding of adaptive immune response to SARS-CoV-2 is imp…
View article: Early prenatal diagnosis of a recurrent case of short-rib thoracic dysplasia 3 due to compound heterozygosity for variations in the DYNC2H1 gene: an “ultrasound first” approach
Early prenatal diagnosis of a recurrent case of short-rib thoracic dysplasia 3 due to compound heterozygosity for variations in the DYNC2H1 gene: an “ultrasound first” approach Open
Short-rib thoracic dysplasia 3 with or without polydactyly (OMIM # 613091) represents a clinical spectrum encompassing a heterogeneous group of skeletal dysplasias associated with homozygous or compound heterozygous mutations of DYNC2H1. W…
View article: Delineation of the clinical profile of <scp><i>CNOT2</i></scp> haploinsufficiency and overview of the <scp>IDNADFS</scp> phenotype
Delineation of the clinical profile of <span><i>CNOT2</i></span> haploinsufficiency and overview of the <span>IDNADFS</span> phenotype Open
CNOT2 haploinsufficiency underlies a rare neurodevelopmental disorder named Intellectual Developmental disorder with NAsal speech, Dysmorphic Facies, and variable Skeletal anomalies (IDNADFS, OMIM 618608). The condition clinically overlaps…
View article: Expression analysis of <scp>miRNA</scp> hsa‐let7b‐5p in naso‐oropharyngeal swabs of <scp>COVID</scp>‐19 patients supports its role in regulating <scp>ACE2</scp> and <scp>DPP4</scp> receptors
Expression analysis of <span>miRNA</span> hsa‐let7b‐5p in naso‐oropharyngeal swabs of <span>COVID</span>‐19 patients supports its role in regulating <span>ACE2</span> and <span>DPP4</span> receptors Open
Severe Acute Respiratory Syndrome Coronavirus‐2 (SARS‐CoV‐2) is the novel coronavirus responsible for worldwide coronavirus disease (COVID‐19). We previously observed that Angiotensin‐converting enzyme 2 (ACE2) and Dipeptidyl peptidase‐4 (…
View article: Expanding the novel <scp><i>MAPKAPK5</i></scp>–related developmental disorder's genotype–phenotype correlation: Patient report and 19 months of follow‐up
Expanding the novel <span><i>MAPKAPK5</i></span>–related developmental disorder's genotype–phenotype correlation: Patient report and 19 months of follow‐up Open
This study aimed to widen the knowledge of a recently identified, autosomal‐recessive, multiple congenital anomalies syndrome to date observed in only other three children. This is the second report of biallelic mutations in MAPKAPK5 whose…
View article: Whole Exome Sequencing in 16p13.11 Microdeletion Patients Reveals New Variants Through Deductive and Systems Medicine Approaches
Whole Exome Sequencing in 16p13.11 Microdeletion Patients Reveals New Variants Through Deductive and Systems Medicine Approaches Open
The 16p13.11 microdeletion, whose prevalence in the general population is about 0.04%, is known in literature as a predisposition factor to neurodevelopmental disorders, being found in about 0.13% of patients with schizophrenia, in 0.5–0.6…
View article: De Novo Mutation in KMT2C Manifesting as Kleefstra Syndrome 2: Case Report and Literature Review
De Novo Mutation in KMT2C Manifesting as Kleefstra Syndrome 2: Case Report and Literature Review Open
Diagnosis of pediatric intellectual disability (ID) can be difficult because it is due to a vast number of established and novel causes. Here, we described a full-term female infant affected by Kleefstra syndrome-2 presenting with neurodev…
View article: Poking COVID-19: Insights on Genomic Constraints among Immune-Related Genes between Qatari and Italian Populations
Poking COVID-19: Insights on Genomic Constraints among Immune-Related Genes between Qatari and Italian Populations Open
Host genomic information, specifically genomic variations, may characterize susceptibility to disease and identify people with a higher risk of harm, leading to better targeting of care and vaccination. Italy was the epicentre for the spre…
View article: Poking COVID-19: insights on genomic constraints among immune-related genes between Qatari and Italian populations
Poking COVID-19: insights on genomic constraints among immune-related genes between Qatari and Italian populations Open
Host genomic information, specifically genomic variations, may characterize susceptibility to disease and identify people with a higher risk of harm, leading to better targeting of care and vaccination. Italy was the epicentre for the spre…
View article: <scp><i>TSPEAR</i></scp> variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study
<span><i>TSPEAR</i></span> variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study Open
Biallelic loss‐of‐function variants in the thrombospondin‐type laminin G domain and epilepsy‐associated repeats ( TSPEAR ) gene have recently been associated with ectodermal dysplasia and hearing loss. The first reports describing a TSPEAR…
View article: Gene Set Enrichment Analysis of Interaction Networks Weighted by Node Centrality
Gene Set Enrichment Analysis of Interaction Networks Weighted by Node Centrality Open
Gene set enrichment analysis (GSEA) is a powerful tool to associate a disease phenotype to a group of genes/proteins. GSEA attributes a specific weight to each gene/protein in the input list that depends on a metric of choice, which is usu…
View article: A case report of isoniazid adverse drug reaction in a pediatric patient with defective NAT2 gene
A case report of isoniazid adverse drug reaction in a pediatric patient with defective NAT2 gene Open
Rationale: Adverse drug reactions (ADRs) represent a major health problem worldwide, with high morbidity and mortality rates, ranging from 0.5% to 16.8% in hospitalized children. One of the most effective and widely used drugs for anti-tub…
View article: Analysis of ACE2 genetic variants in 131 Italian SARS-CoV-2-positive patients
Analysis of ACE2 genetic variants in 131 Italian SARS-CoV-2-positive patients Open
Background Coronaviruses (CoV) are a large family of viruses that are common in humans and many animal species. Animal coronaviruses rarely infect humans with the exceptions of the Middle East respiratory syndrome ( MERS-CoV ), the severe …
View article: Analysis of ACE2 Genetic Variants in 131 Italian SARS-CoV-2 Positive Patients
Analysis of ACE2 Genetic Variants in 131 Italian SARS-CoV-2 Positive Patients Open
Background: Coronaviruses (CoV) are a large family of viruses that are common in humans and many animal species. Animal coronaviruses rarely infect humans with the exceptions of the Middle East Respiratory Syndrome (MERS-CoV), the Severe A…
View article: Analysis of ACE2 Genetic Variants in 131 Italian SARS-CoV-2 Positive Patients
Analysis of ACE2 Genetic Variants in 131 Italian SARS-CoV-2 Positive Patients Open
Background Coronaviruses (CoV) are a large family of viruses that are common in humans and many animal species. Animal coronaviruses rarely infect humans with the exceptions of the Middle East Respiratory Syndrome (MERS-CoV), the Severe Ac…
View article: Analysis of ACE2 Genetic Variants by Direct Exome Sequencing in 99 SARS-CoV-2 Positive Patients
Analysis of ACE2 Genetic Variants by Direct Exome Sequencing in 99 SARS-CoV-2 Positive Patients Open
BackgroundCoronaviruses (CoV) are a large family of viruses that are common in humans and many animal species. Animal coronaviruses rarely infect humans with the exceptions of the Middle East Respiratory Syndrome (MERS-CoV), the Severe acu…