A5082971014- Epigenetics and DNA Methylation
- Genetic Syndromes and Imprinting
- Prenatal Screening and Diagnostics
- Genetics and Neurodevelopmental Disorders
- Genomics and Chromatin Dynamics
- Gestational Trophoblastic Disease Studies
- Tumors and Oncological Cases
- Congenital limb and hand anomalies
- Cancer-related gene regulation
- Genomic variations and chromosomal abnormalities
- Immune responses and vaccinations
- Neonatal Respiratory Health Research
- Autism Spectrum Disorder Research
- Neurological diseases and metabolism
- Pain Mechanisms and Treatments
- Identity, Memory, and Therapy
- Botulinum Toxin and Related Neurological Disorders
- Dietary Effects on Health
- Ubiquitin and proteasome pathways
- Estrogen and related hormone effects
- RNA Research and Splicing
- Renal and related cancers
- RNA modifications and cancer
- Amyotrophic Lateral Sclerosis Research
- Hereditary Neurological Disorders
IRCCS Istituto Auxologico Italiano
2015-2025
Istituti di Ricovero e Cura a Carattere Scientifico
2015-2025
MRC Laboratory of Molecular Biology
2013
Istituto Nazionale di Fisica Nucleare, Sezione di Milano
2013
University of Milano-Bicocca
2006
University of Milan
2004
Abstract Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with strong genetic component in which rare variants contribute significantly to risk. We performed whole genome and/or exome sequencing (WGS and WES) SNP-array analysis identify both sequence copy number (SNVs CNVs) 435 individuals from 116 ASD families. identified 37 potentially damaging de novo SNVs (pdSNVs) the cases ( n = 144). Interestingly, two of them (one stop-gain one missense variant) occurred same...
In this study we applied a new analytical strategy to investigate the relations between stochastic epigenetic mutations (SEMs) and aging. We analysed methylation levels through Infinium HumanMethylation27 HumanMethylation450 BeadChips in population of 178 subjects ranging from 3 106 years. For each CpG probe, epimutated were identified as extreme outliers with level exceeding three times interquartile ranges first quartile (Q1-(3 × IQR)) or third (Q3+(3 IQR)). demonstrated that number SEMs...
Multiple (epi)genetic defects affecting the expression of imprinted genes within 11p15.5 chromosomal region underlie Silver-Russell (SRS) and Beckwith-Wiedemann (BWS) syndromes. The molecular diagnosis these opposite growth disorders requires a multi-approach flowchart to disclose known primary secondary alterations; however, up 20 30 % clinically diagnosed BWS SRS cases remain without diagnosis. complex structure 11p15 with variable CpG methylation low-rate mosaicism may account for missed...
Abstract Background Maternal effect mutations in the components of subcortical maternal complex (SCMC) human oocyte can cause early embryonic failure, gestational abnormalities and recurrent pregnancy loss. Enigmatically, they are also associated with DNA methylation at imprinted genes conceptuses: devastating abnormality biparental complete hydatidiform mole (BiCHM) or multi-locus imprinting disease (MLID). However, developmental timing, genomic extent mechanistic basis these defects...
Abstract Background PADI6 is a component of the subcortical maternal complex, group proteins that abundantly expressed in oocyte cytoplasm, but required for correct development early embryo. Maternal-effect variants complex are associated with heterogeneous diseases, including female infertility, hydatidiform mole, and imprinting disorders multi-locus disturbance. While involvement infertility well demonstrated, its role less established. Results We have identified by whole-exome sequencing...
The aim of the present study was to provide a comprehensive characterization whole genome DNA methylation patterns in replicative and ionizing irradiation- or doxorubicin-induced premature senescence, exhaustively exploring epigenetic modifications three different human cell types: somatic diploid skin fibroblasts bone marrow- adipose-derived mesenchymal stem cells. With CpG-wise differential analysis, signatures were identified: (a) type- treatment-specific signature; (b) type-specific...
Imprinting disorders are a group of congenital diseases which characterized by molecular alterations affecting differentially methylated regions (DMRs). To date, at least twelve imprinting have been defined with overlapping but variable clinical features including growth and metabolic disturbances, cognitive dysfunction, abdominal wall defects asymmetry. In general, single specific DMR is affected in an individual given disorder, there growing number reports on individuals so-called...
COVID-19 has a wide spectrum of clinical manifestations and given its impact on morbidity mortality, there is an unmet medical need to discover endogenous cellular molecular biomarkers that predict the expected course disease. Recently, epigenetics especially DNA methylation have been pointed out as promising tool for outcome prediction in several diseases.Using Illumina Infinium Methylation EPIC BeadChip850K, we investigated genome-wide differences Italian Cohort patients with comorbidities...
<p dir="ltr">The aim of this work was to describe the DNA methylation signature and identify genes associated with neuropathic pain in type 2 diabetes mellitus.</p><p dir="ltr">We analyzed two independent diabetic neuropathy cohorts: PROPGER consisting 72 painful 67 painless patients recruited at German Diabetes Center Düsseldorf (DE), PROPENG comprising 27 65 University Manchester (UK). Genome-wide data generated using Illumina Infinium Methylation EPIC v1.0 BeadChip. We...
<p dir="ltr">The aim of this work was to describe the DNA methylation signature and identify genes associated with neuropathic pain in type 2 diabetes mellitus.</p><p dir="ltr">We analyzed two independent diabetic neuropathy cohorts: PROPGER consisting 72 painful 67 painless patients recruited at German Diabetes Center Düsseldorf (DE), PROPENG comprising 27 65 University Manchester (UK). Genome-wide data generated using Illumina Infinium Methylation EPIC v1.0 BeadChip. We...
The aim of this work was to describe the DNA methylation signature and identify genes associated with neuropathic pain in type 2 diabetes mellitus. We analyzed two independent diabetic neuropathy cohorts: PROPGER consisting 72 painful 67 painless patients recruited at German Diabetes Center Düsseldorf (DE), PROPENG comprising 27 65 University Manchester (UK). Genome-wide data generated using Illumina Infinium Methylation EPIC v1.0 BeadChip. used four different selection criteria promising...
Abstract Lynch‐like syndrome (LLS) presents very similar clinicopathological characteristics to Lynch (LS) but the mechanism for cancer predisposition remains unknown. The present study aims investigate causal of LLS by a comprehensive genetic and epigenetic approach. Thirty‐two 34 LS patients with colorectal (CRC) fitting Amsterdam Bethesda criteria were included, along 29 CRC sporadic patients, analyzed presence pathogenic variants in 94 genes associated hereditary tumors. cohorts also...
We provide data on fetal growth pattern the molecular subtypes of Beckwith-Wiedemann syndrome (BWS): IC1 gain methylation (IC1-GoM), IC2 loss (IC2-LoM), 11p15.5 paternal uniparental disomy (UPD), and CDKN1C mutation. In this observational study, gestational ages neonatal parameters 247 BWS patients were compared by calculating age-corrected standard deviation scores (SDS) proportionality indexes to search for differences among IC1-GoM (n = 21), UPD 87), IC2-LoM 147), mutation 11) patients....
Beckwith-Wiedemann syndrome (BWS) is a rare disorder characterized by overgrowth and predisposition to embryonal tumors. BWS caused various epigenetic and/or genetic alterations that dysregulate the imprinted genes on chromosome region 11p15.5. Molecular analysis required reinforce clinical diagnosis of identify patients with cancer susceptibility. This particularly crucial prenatally because most signs cannot be recognized in utero. We established reliable molecular assay pyrosequencing...
During the last decades, our knowledge about genetic architecture of sporadic amyotrophic lateral sclerosis (sALS) has significantly increased. However, besides recognized risk factors, also environment is supposed to have a role in disease pathogenesis. Epigenetic modifications reflect results interaction between environmental factors and genes may play development progression ALS. A recent epigenome-wide association study (EWAS) blood identified differentially methylated positions mapping...
The epigenetic status of patients 6-month post-COVID-19 infection remains largely unexplored. existence long-COVID, or post-acute sequelae SARS-CoV-2 (PASC), suggests potential long-term changes. Long-COVID includes symptoms like fatigue, neurological issues, and organ-related problems, regardless initial severity. mechanisms behind long-COVID are unclear, but virus-induced changes could play a role. Our study explores the lasting impacts infection. We analyzed genome-wide DNA methylation...
Abstract About one out of two diabetic patients develop neuropathy (DN), these 20% experience neuropathic pain (NP) leading to individual, social, and health-economic burden. Risk factors for NP are largely unknown; however, premature aging was recently associated with several chronic disorders. DNA methylation-based biological age (DNAm) is disease risk, morbidity, mortality in different clinical settings. The purpose this work study, the first time, whether involved development a huge...
UBP10 encodes a deubiquitinating enzyme of Saccharomyces cerevisiae. Its inactivation results in complex phenotype characterized by subpopulation cells that exhibits the typical cellular markers apoptosis. Here, we show additional deletion YCA1, coding for yeast metacaspase, suppressed ubp10 disruptant phenotype. Moreover, YCA1 overexpression, without any external stimulus, had detrimental effect on growth and viability accompanied an increase apoptotic cells. This response was completely...
Abstract Background A subset of individuals affected by imprinting disorders displays multi-locus disturbances (MLID). MLID has been associated with maternal-effect variants that alter the maintenance methylation at germline-derived differentially methylated regions (gDMRs) in early embryogenesis. Pedigrees also include siblings healthy phenotype. However, it is unknown if these have themselves or their patterns differ from those disorders, and general, affects clinical Methods We...
Oculo-auriculo-vertebral-spectrum (OAVS; OMIM 164210) is a rare disorder originating from abnormal development of the first and second branchial arch. The clinical phenotype extremely heterogeneous with ear anomalies, hemifacial microsomia, ocular defects, vertebral malformations being main features. MYT1, AMIGO2, ZYG11B gene variants were reported in few OAVS patients, but etiology remains largely unknown. A multifactorial origin has been proposed, including involvement environmental...
Beckwith-Wiedemann syndrome (BWS) and Silver-Russell (SRS) are two imprinting disorders associated with opposite molecular alterations in the 11p15.5 centres. Their clinical diagnosis is confirmed by testing 50-70% of patients. The authors from different reference centres for BWS SRS have identified single patients unexpected even contradictory findings respect to diagnosis. These clinically do not fit characteristic phenotypes or BWS, but illustrate their heterogeneity. Thus, comprehensive...
Preterm birth (PTB) can be defined as the endpoint of a complex process that could influenced by maternal and environmental factors. Epigenetics recently emerged an interesting field investigation since it represents important mechanism regulation. This study evaluates epigenetic impact preterm on DNA methylation. Genome-wide DNAm was measured using Illumina 450K array in cord blood samples obtained from 72 full term 18 newborns. Lymphocyte composition calculated based specific markers are...