A5039877471- Protein Tyrosine Phosphatases
- Galectins and Cancer Biology
- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- RNA modifications and cancer
- Genomics and Rare Diseases
- Connective tissue disorders research
- Genetic Syndromes and Imprinting
- Peptidase Inhibition and Analysis
- RNA regulation and disease
- PI3K/AKT/mTOR signaling in cancer
- Congenital heart defects research
- Epigenetics and DNA Methylation
- Neurogenetic and Muscular Disorders Research
- Long-Term Effects of COVID-19
- RNA Research and Splicing
- Prenatal Screening and Diagnostics
- COVID-19 Clinical Research Studies
- Carbohydrate Chemistry and Synthesis
- Tracheal and airway disorders
- Tumors and Oncological Cases
- Cellular transport and secretion
- Genomics and Chromatin Dynamics
- Congenital Ear and Nasal Anomalies
- Craniofacial Disorders and Treatments
Università Cattolica del Sacro Cuore
2016-2025
Agostino Gemelli University Polyclinic
2016-2025
Istituti di Ricovero e Cura a Carattere Scientifico
2020-2024
National Center on Birth Defects and Developmental Disabilities
2019-2024
ERN ITHACA
2023
ERN GUARD-Heart
2023
University of Wisconsin–Madison
2022
John Wiley & Sons (United States)
2022
Hudson Institute
2022
ORCID
2020
Noonan, LEOPARD, and cardiofaciocutaneous syndromes (NS, LS, CFCS) are developmental disorders with overlapping features including distinctive facial dysmorphia, reduced growth, cardiac defects, skeletal ectodermal anomalies, variable cognitive deficits. Dysregulated RAS-mitogen-activated protein kinase (MAPK) signal traffic has been established to represent the molecular pathogenic cause underlying these conditions. To investigate phenotypic spectrum diversity of germline mutations...
Noonan syndrome (NS) is a relatively common, clinically variable and genetically heterogeneous developmental disorder characterized by postnatally reduced growth, distinctive facial dysmorphism, cardiac defects cognitive deficits. Other associated features include ectodermal skeletal defects, cryptorchidism, lymphatic dysplasias, bleeding tendency, and, rarely, predisposition to hematologic malignancies during childhood. NS caused mutations in the <i>PTPN11</i>,...
Summary: Purpose : The study goal was to assess teratogenic effects of antiepileptic drugs (AEDs) through the use a surveillance system (MADRE) infants with malformations. Methods Information on all malformed (1990–1996) maternal first‐trimester drug exposure collected by International Clearinghouse for Birth Defects and Monitoring Systems (ICBDMS). Cases were defined as presenting specific malformation, controls any other birth defect. Exposure AEDs during first trimester pregnancy....
The epidemiology and genetics of microtia-anotia (M-A) were studied using data collected from the Italian Multicentre Birth Defects Registry (IPIMC) 1983 to 1992. Among 1,173, 794 births, we identified 172 with M-A, a rate 1.46/10,000; 38 infants (22.1%) had anotia. Of infants, 114 (66.2%) an isolated defect, 48 (27.9%) multiformed (MMI) 10 (5.8%) well defined syndrome. frequency bilateral defects among non-syndromic cases was 12% compared 50% syndromic (p = 0.007). MMI only...
RASopathies, a family of disorders characterized by cardiac defects, defective growth, facial dysmorphism, variable cognitive deficits and predisposition to certain malignancies, are caused constitutional dysregulation RAS signalling predominantly through the RAF/MEK/ERK (MAPK) cascade. We report on two germline mutations (p.Gly39dup p.Val55Met) in RRAS, gene encoding small monomeric GTPase controlling cell adhesion, spreading migration, underlying rare (2 subjects among 504 individuals...
Noonan syndrome (NS) is among the most common nonchromosomal disorders affecting development and growth. NS caused by aberrant RAS-MAPK signaling genetically heterogeneous, which explains, in part, marked clinical variability documented for this Mendelian trait. Recently, we others identified SOS1 as a major gene underlying NS. Here, explored further spectrum of mutations their associated phenotypic features. Mutation scanning entire coding sequence allowed identification 33 different...
Transcription factors operate in developmental processes to mediate inductive events and cell competence, perturbation of their function or regulation can dramatically affect morphogenesis, organogenesis, growth. We report that a narrow spectrum amino-acid substitutions within the transactivation domain v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog (MAF), leucine zipper-containing transcription factor AP1 superfamily, profoundly development. Seven different de novo missense...
Aberrant activation or inhibition of potassium (K+) currents across the plasma membrane cells has been causally linked to altered neurotransmission, cardiac arrhythmias, endocrine dysfunction, and (more rarely) perturbed developmental processes. The K+ channel subfamily K member 4 (KCNK4), also known as TRAAK (TWIK-related arachidonic acid-stimulated channel), belongs mechano-gated ion channels TRAAK/TREK two-pore-domain (K2P) channels. While K2P are well contribute resting potential...
Emerging evidence shows that both adults and children may develop post-acute sequelae of SARS-CoV-2 infection (PASC). The aim this study is to characterise compare long-term post-SARS-CoV-2 outcomes in a defined region Italy.A prospective cohort including (≤18 years old) with PCR-confirmed their household members. Participants were assessed via telephone face-to-face visits up 12 months diagnosis index case, using the ISARIC COVID-19 follow-up survey.Of 507 participants from 201 households,...
The long-term outcomes of newborns exposed to SARS-CoV-2 infection in utero or during the first hours life are still unknown. We performed a single-center, prospective, observational study born from mothers with microbiologically confirmed pregnancy at time delivery. Infants were offered multidisciplinary follow-up consisting nasopharyngeal Polymerase Chain Reaction test birth and 48–72 h life, auxological growth neurological development, serologic testing, audiological ophthalmological...
We report on a clinical-genetic study of 16 Wolf-Hirschhorn syndrome (WHS) patients. Hemizygosity 4p16.3 was detected by conventional prometaphase chromosome analysis (11 patients) or molecular probes apparently normal chromosomes (4 patients). One patient had without detectable deletion within the WHS “critical region.” In each deleted patient, demonstrated to be terminal fluorescence in situ hybridization (FISH). The proximal breakpoint rearrangement established cases with visible...