A5078016480- Down syndrome and intellectual disability research
- RNA modifications and cancer
- Genomic variations and chromosomal abnormalities
- Epigenetics and DNA Methylation
- Prenatal Screening and Diagnostics
- RNA and protein synthesis mechanisms
- Genetics and Neurodevelopmental Disorders
- RNA Research and Splicing
- Immune responses and vaccinations
- Molecular Biology Techniques and Applications
- Congenital heart defects research
- Machine Learning in Bioinformatics
- MicroRNA in disease regulation
- Gene expression and cancer classification
- Genomics and Phylogenetic Studies
- Folate and B Vitamins Research
- Digestive system and related health
- Biomedical Text Mining and Ontologies
- Acute Myeloid Leukemia Research
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Bioinformatics and Genomic Networks
- Signaling Pathways in Disease
- Genomics and Chromatin Dynamics
- Genomics and Rare Diseases
- RNA regulation and disease
University of Bologna
2016-2025
March of Dimes
2017
Background: All living organisms are made of individual and identifiable cells, whose number, together with their size type, ultimately defines the structure functions an organism. While total cell number lower is often known, it has not yet been defined in higher organisms. In particular, reported a human being ranges between 1012 1016 widely mentioned without proper reference.
Basic parameters commonly used to describe genomes including length, weight and relative guanine-cytosine (GC) content are widely cited in absence of a primary source. By using updated data original software we determined these values the best our knowledge as standard reference for whole human nuclear genome, each chromosome mitochondrial DNA. We also devised method calculate GC messenger RNA sequence set transcriptomes by multiplying gene its mean expression level.The male diploid genome...
A well-known limit of genome browsers is that the large amount and gene data not organized in form a searchable database, hampering full management numerical free calculations. Due to continuous increase deposited genomic repositories, their content revision analysis recommended. Using GeneBase, software with graphical interface able import elaborate National Center for Biotechnology Information (NCBI) Gene database entries, we provide tabulated spreadsheets updated 2019 about human nuclear...
We release GeneBase 1.1, a local tool with graphical interface useful for parsing, structuring and indexing data from the National Center Biotechnology Information (NCBI) Gene bank. Compared to its predecessor (1.0), 1.1 now allows dynamic calculation summarization in terms of median, mean, standard deviation total many quantitative parameters associated genes, gene transcripts features (exons, introns, coding sequences, untranslated regions). thus offers opportunity perform analyses main...
The ideal reference, or control, gene for the study of expression in a given organism should be expressed at medium‑high level easy detection, constant/stable throughout different cell types and within same type undergoing treatments, maintain these features through as many tissues organism. From biological point view, theoretical requirements an reference appear to best suited housekeeping (HK) genes. Recent advancements quality completeness human microarray data their statistical analysis...
Down syndrome (DS) is caused by the presence of a supernumerary copy human chromosome 21 (Hsa21) and most frequent genetic cause intellectual disability (ID). Key traits DS are distinctive facies cognitive impairment. We conducted for first time an analysis Nuclear Magnetic Resonance (NMR)-detectable part metabolome in plasma urine samples, studying 67 subjects with 29 normal as controls selected among siblings. Multivariate NMR metabolomic profiles showed clear discrimination (up to 80%...
Abstract Down syndrome (DS) or trisomy 21 (T21) is present in a significant number of children and adults around the world associated with cognitive medical challenges. Through research, T21 Research Society (T21RS), established 2014, unites worldwide community dedicated to understanding impact on biological systems improving quality life people DS across lifespan. T21RS hosts an international conference every two years support collaboration, dissemination, information sharing for this goal....
We have developed GeneBase, a full parser of the National Center for Biotechnology Information (NCBI) Gene database, which generates fully structured local database with an intuitive user-friendly graphic interface personal computers. Features all annotated eukaryotic genes are accessible through three main software tables, including each entry details such as gene summary, exon/intron structure and specific Ontology attributions. The structuring data, creation additional calculation fields...
Down syndrome (DS) is due to the presence of an extra full or partial chromosome 21 (Hsa21). The identification genes contributing DS pathogenesis could be key any rational therapy associated intellectual disability. We aim at generating quantitative transcriptome maps in integrating all gene expression profile datasets available for cell type tissue, obtain a complete model terms both values each and segmental trend along chromosome. used TRAM (Transcriptome Mapper) software this...
Abstract Background Down syndrome (DS) is characterized by the presence of an extra full or partial human chromosome 21 (Hsa21). An invaluable model to define genotype‐phenotype correlations in DS study extremely rare cases (segmental) trisomy (PT21), duplication only a delimited region Hsa21 associated not DS. A systematic retrospective reanalysis 125 PT21 described up 2015 allowed creation most comprehensive map and identification 34‐kb highly restricted critical (HR‐DSCR) as minimal whose...
Abstract Trisomy 21 (Down syndrome, DS) is the main human genetic cause of intellectual disability (ID). Lejeune hypothesized that DS could be considered a metabolic disease, and we found subjects with have specific plasma urinary metabolomic profile. In this work confirmed alteration mitochondrial metabolism in also investigated if metabolite levels are related to cognitive aspects DS. We analyzed profiles samples from 129 46 healthy control (CTRL) by 1 H Nuclear Magnetic Resonance (NMR)....
Down Syndrome (DS) is the most common genetic alteration responsible for intellectual disability, which refers to deficits in both and adaptive functioning. According this, individuals with reach developmental milestones (e.g., sitting, walking, babbling) same order as their typically developing peers, but later life. Since are first blocks on development builds, aims of current study to: (i) expand knowledge milestone acquisition; (ii) explore relationship between acquisition development....
Several tools have been developed to perform global gene expression profile data analysis, search for specific chromosomal regions whose features meet defined criteria as well study neighbouring expression. However, most of these are tailored a use in particular context (e.g. they species-specific, or limited format) and typically accept only lists input.TRAM (Transcriptome Mapper) is new general tool that allows the simple generation analysis quantitative transcriptome maps, starting from...
The incidence of Acute Megakaryoblastic Leukemia (AMKL) is 500-fold higher in children with Down Syndrome (DS) compared non-DS children, but the relevance trisomy 21 as a specific background AMKL DS still an open issue. Several Authors have determined gene expression profiles by microarray analysis and/or AMKL. Due to rarity AMKL, these studies were typically limited small group samples. We generated integrated quantitative transcriptome maps systematic meta-analysis from any available...
Trisomy 21 (T21) is a genetic alteration characterised by the presence of an extra full or partial human chromosome (Hsa21) leading to Down syndrome (DS), most common form intellectual disability (ID). It broadly agreed that material in T21 gives origin altered expression genes located on Hsa21 DS phenotype. The aim this study was analyse and normal control blood cell gene profiles obtained total RNA sequencing (RNA-Seq).The results were elaborated TRAM (Transcriptome Mapper) software which...
Abstract This work investigates the role of metabolite levels in intellectual impairment subjects with Down syndrome (DS). Homocysteine, folate, vitamin B12, uric acid (UA), creatinine and MTHFR C677T genotype were analyzed 147 DS. For 77 subjects, correlated cognitive tests. Griffiths-III test was administered to 28 (3.08–6.16 years) WPPSI-III 49 (7.08–16.08 years). Significant correlations found among some between homocysteine genotype. Moreover, homocysteine, UA resulted increased age. We...
Down syndrome (DS) or trisomy 21 is the most common genetic cause of intellectual disability (ID), but a pathogenic mechanism has not been identified yet. Studying complex and monogenic condition such as DS, clear correlation between effect might be difficult to find through classical analysis methods, thus different approaches need used. The increased availability big data made use artificial intelligence (AI) in particular machine learning (ML) medical field possible. purpose this work...