Michele Pinelli
A5075672280- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Retinal Development and Disorders
- Genetic Neurodegenerative Diseases
- Mitochondrial Function and Pathology
- RNA modifications and cancer
- Adipose Tissue and Metabolism
- Bioinformatics and Genomic Networks
- interferon and immune responses
- RNA regulation and disease
- Cancer Genomics and Diagnostics
- Diet and metabolism studies
- Peroxisome Proliferator-Activated Receptors
- Genomics and Phylogenetic Studies
- Genetic Associations and Epidemiology
- CRISPR and Genetic Engineering
- Genetic Mapping and Diversity in Plants and Animals
- Chromatin Remodeling and Cancer
- Cellular transport and secretion
- RNA and protein synthesis mechanisms
- Congenital heart defects research
- Single-cell and spatial transcriptomics
- Williams Syndrome Research
- Cerebrovascular and genetic disorders
Federico II University Hospital
2008-2024
Telethon Institute Of Genetics And Medicine
2015-2024
Ceinge Biotecnologie Avanzate (Italy)
2024
Institute of Genetics and Biophysics
2024
University of Naples Federico II
2011-2023
Radboud University Nijmegen
2016-2019
Radboud University Medical Center
2016-2019
Institute for Experimental Endocrinology and Oncology
2007
MicroRNAs play a fundamental role in retinal development and function. To characterise the miRNome of human retina, we carried out deep sequencing analysis on sixteen individuals. We established catalogue retina-expressed miRNAs, determined their relative abundance found that small number miRNAs accounts for almost 90% retina miRNome. discovered more than 3000 miRNA variants (isomiRs), encompassing wide range sequence variations, which include seed modifications are predicted to have an...
Abstract Variants in RAC3, encoding a small GTPase RAC3 which is critical for the regulation of actin cytoskeleton and intracellular signal transduction, are associated with rare neurodevelopmental disorder structural brain anomalies facial dysmorphism. We investigated cohort 10 unrelated participants presenting global psychomotor delay, hypotonia, behavioural disturbances, stereotyped movements, dysmorphic features, seizures musculoskeletal abnormalities. MRI revealed complex pattern...
The most frequent mutation of Friedreich ataxia (FRDA) is the abnormal expansion a GAA repeat located within first intron FXN gene. It known that length directly correlated with disease severity. effect severe reduction mRNA. Recently, link among aberrant CpG methylation, chromatin organisation and was proposed.In this study, using pyrosequencing technology, we have performed quantitative analysis methylation status five sites region upstream repeat, in 67 FRDA patients.We confirm previous...
The human retina is a specialized tissue involved in light stimulus transduction. Despite its unique biology, an accurate reference transcriptome still missing. Here, we performed gene expression analysis (RNA-seq) of 50 retinal samples from non-visually impaired post-mortem donors. We identified novel transcripts with high confidence (Observed Transcriptome (ObsT)) and quantified the level known (Reference (RefT)). ObsT included 77 623 (23 960 genes) covering 137 Mb (35 new transcribed...
SRSF1 (also known as ASF/SF2) is a non-small nuclear ribonucleoprotein (non-snRNP) that belongs to the arginine/serine (R/S) domain family. It recognizes and binds mRNA, regulating both constitutive alternative splicing. The complete loss of this proto-oncogene in mice embryonically lethal. Through international data sharing, we identified 17 individuals (10 females 7 males) with neurodevelopmental disorder (NDD) heterozygous germline variants, mostly de novo, including three frameshift...
Abstract Structural variants (SVs), including large deletions, duplications, inversions, translocations, and more complex events have the potential to disrupt gene function resulting in rare disease. Nevertheless, current pipelines clinical decision support systems for exome sequencing (ES) tend focus on small alterations such as single nucleotide (SNVs) insertions-deletions shorter than 50 base pairs (indels). Additionally, detection interpretation of copy-number (CNVs) are frequently...
SIGLEC15 is a component of the host immune response against Candida albicans and dysregulated in patients with recurrent vulvovaginal candidiasis.
Lipedema is an often underdiagnosed chronic disorder that affects subcutaneous adipose tissue almost exclusively in women, which leads to disproportionate fat accumulation the lower and upper body extremities. Common comorbidities include anxiety, depression, pain. The correlation between mood deposition suggests involvement of steroids metabolism neurohormones signaling, however no clear association has been established so far. In this study, we report on a family with three patients...
Global metabolomic profiling offers novel opportunities for the discovery of biomarkers and elucidation pathogenic mechanisms that might lead to development therapies. GLUT1 deficiency syndrome (GLUT1-DS) is an inborn error metabolism due reduced function glucose transporter type 1. Clinical presentation GLUT1-DS heterogeneous disorder mirrors patients with epilepsy, movement disorders, or any paroxysmal events unexplained neurological manifestation triggered by exercise fasting. The...
MODY2 is the most prevalent monogenic form of diabetes in Italy with an estimated prevalence about 0.5-1.5%. potentially indistinguishable from other forms diabetes, however, its identification impacts on patients' quality life and healthcare resources. Unfortunately, DNA direct sequencing as diagnostic test not readily accessible expensive. In addition current guidelines, aiming to establish when should be performed, proved a poor detection rate. Aim this study propose reliable easy-to-use...
Dystroglycanopathy (α-DG) is a relatively common, clinically and genetically heterogeneous category of congenital forms muscular dystrophy (CMD) limb-girdle (LGMD) associated with hypoglycosylated α-dystroglycan. To date, mutations in at least 19 genes have been α-DG. One them, GMPPB, encoding the guanosine-diphosphate-mannose (GDP-mannose) pyrophosphorylase B protein, has recently wide clinical spectrum ranging from severe Walker-Warburg syndrome to pseudo-metabolic myopathy even myasthenic...
Targeted resequencing has become the most used and cost-effective approach for identifying causative mutations of Mendelian diseases both diagnostics research purposes. Due to very rapid technological progress, NGS laboratories are expanding their capabilities address increasing number analyses. Several open source tools available build a generic variant calling pipeline, but tool able simultaneously execute multiple analyses, organize, categorize samples is still missing. Here we describe...
Genetic differences both between individuals and populations are studied for their evolutionary relevance potential medical applications. Most of the genetic differentiation among caused by random drift that should affect all loci across genome in a similar manner. When locus shows extraordinary high or low levels population differentiation, this may be interpreted as evidence natural selection. The most used measure was devised Wright is known fixation index, FST. We performed genome-wide...
OBJECTIVE—We explore the relationship among BMI, habitual diet, and Pro12Ala polymorphism in peroxisome proliferator–activated receptor (PPAR)γ2. RESEARCH DESIGN AND METHODS—The variant was characterized 343 unrelated type 2 diabetic patients who were consecutively seen at outpatient clinic of a health district province Naples. Anthropometric laboratory parameters measured; diet assessed by validated semiquantitative food frequency questionnaire. RESULTS—The overall Ala12 12% (n = 42). BMI...
Celiac Disease (CD) is a polygenic trait, and HLA genes explain less than half of the genetic variation. Through large GWAs more 40 associated non-HLA were identified, but they give small contribution to heritability disease. The aim this study improve estimate CD risk in siblings, by adding set genes. One-hundred fifty-seven Italian families with confirmed case at least one other sib both parents recruited. Among 249 sibs, 29 developed 6 year follow-up period. All individuals typed for 10...