A5057833674- Cancer Genomics and Diagnostics
- Genomics and Rare Diseases
- Plant and animal studies
- Insect and Arachnid Ecology and Behavior
- Cell Adhesion Molecules Research
- Genomics and Phylogenetic Studies
- Genetics and Neurodevelopmental Disorders
- MicroRNA in disease regulation
- Gut microbiota and health
- Blood disorders and treatments
- Cancer-related molecular mechanisms research
- Insect and Pesticide Research
- RNA modifications and cancer
- Scientific Computing and Data Management
- RNA Research and Splicing
- Immunodeficiency and Autoimmune Disorders
- Biomedical Text Mining and Ontologies
- Genomic variations and chromosomal abnormalities
- Genetics, Bioinformatics, and Biomedical Research
- Gene expression and cancer classification
- Pectus Deformity Diagnosis and Treatment
- Diet and metabolism studies
- Cellular Mechanics and Interactions
- Bone Metabolism and Diseases
- Epigenetics and DNA Methylation
Istituto Giannina Gaslini
2021-2024
Istituti di Ricovero e Cura a Carattere Scientifico
2021-2024
Italian Institute of Technology
2021-2023
Environment Park
2014-2022
Polaris (United States)
2021
Center for Advanced Studies Research and Development in Sardinia
2013-2020
Institute of Molecular Biology and Pathology
2008-2010
Merck & Co., Inc., Rahway, NJ, USA (United States)
2007-2009
Université de Tours
2001-2004
Centre National de la Recherche Scientifique
2001-2004
Abstract In the present study, we characterized distinctive signatures of gut microbiota (GM) from overweight/obese patients (OB), and normal-weight controls (NW), both Sardinian origin. Fecal bacterial composition 46 OB (BMI = 36.6 ± 6.0; F/M 40/6) was analyzed compared to that NW subjects 21.6 2.1; 41/5), matched for sex, age smoking status, by using 16S rRNA gene sequencing on MiSeq Illumina platform. The microbial community exhibited a significant decrease in relative abundance several...
Parkinson's disease is a neurodegenerative disorder characterized by the accumulation of intracellular aggregates misfolded alpha-synuclein along cerebral axis. Several studies report association between intestinal dysbiosis and disease, although cause-effect relationship remains to be established. Herein, gut microbiota composition 64 Italian patients with 51 controls was determined using next-generation sequencing approach. A real metagenomics shape based on gas chromatography-mass...
Spontaneous tumors in dog have been demonstrated to share many features with their human counterparts, including relevant molecular targets, histological appearance, genetics, biological behavior and response conventional treatments. Mammary therefore provide an attractive alternative more classical mouse models, such as transgenics or xenografts, where the tumour is artificially induced. To assess extent which represent clinically significant phenotypes, we performed first genome-wide...
Abstract Summary: End-to-end next-generation sequencing microbiology data analysis requires a diversity of tools covering bacterial resequencing, de novo assembly, scaffolding, RNA-Seq, gene annotation and metagenomics. However, the construction computational pipelines that use different software packages is difficult owing to lack interoperability, reproducibility transparency. To overcome these limitations we present Orione, Galaxy-based framework consisting publicly available research...
Life sciences are yielding huge data sets that underpin scientific discoveries fundamental to improvement in human health, agriculture and the environment. In support of these discoveries, a plethora databases tools deployed, technically complex diverse implementations, across spectrum disciplines. The corpus documentation resources is fragmented Web, with much redundancy, has lacked common standard information. outcome scientists must often struggle find, understand, compare use best for...
Recessive dystrophic epidermolysis bullosa (RDEB) is a genodermatosis characterized by fragile skin forming blisters that heal invariably with scars. It due to mutations in the COL7A1 gene encoding type VII collagen, major component of anchoring fibrils connecting cutaneous basement membrane dermis. Identical often result inter- and intra-familial disease variability, suggesting additional modifiers contribute RDEB course. Here, we studied monozygotic twin pair presenting markedly different...
This study was aimed at characterizing the gut microbiota (GM) and its functional profile in two groups of Sardinian subjects with a long healthy life expectancy, overall named Long-Lived Subjects (LLS) [17 centenarians (CENT) 29 nonagenarians (NON)] by comparing them to 46 younger controls (CTLs). In addition, contribution genetics environmental factors GM phenotype assessed subgroup seven centenarian parents (CPAR) paired cohort centenarians' offspring (COFF). The analysis performed...
Although it is known that the gut microbiota (GM) can be modulated by diet, efficacy of specific dietary interventions in determining its composition and diversity obese patients remains to ascertained. The present work aims evaluate impact a moderately hypocaloric Mediterranean diet on GM overweight (OB). 23 OB (F/M = 20/3) was compared before (T0) after 3 months (T3) nutritional intervention (NI). Fecal samples were analyzed Illumina MiSeq sequencing 16S rRNA gene. At baseline,...
Parkinson’s disease (PD) is a clinically heterogenic disorder characterized by distinct clinical entities. Most studies on motor deficits dichotomize PD into tremor dominant (TD) or non-tremor (non-TD) with akinetic-rigid features (AR). Different pathophysiological mechanisms may affect the onset of manifestations. Recent have suggested that gut microbes be involved in pathogenesis. The aim this study was to investigate microbiota and metabolome composition patients relation TD non-TD...
BackgroundCeliac Disease (CD) is a multifactorial autoimmune enteropathy (with prevalence of approximately 1% worldwide) that exhibits wide spectrum clinical, serological and histological manifestations. For the diagnosis paediatric CD, gold standard combination tests high TGA-IgA values greater than 10 times upper limit normal) duodenal biopsy positive but low titer). Therefore, diagnostic test totally excludes an invasive approach has not been discovered so far discovery novel biological...
Recessive dystrophic epidermolysis bullosa (RDEB) is a blistering disease caused by mutations in the gene encoding type VII collagen (C7). RDEB associated with fibrosis, which responsible for severe complications. The phenotypic variability observed siblings suggests that epigenetic modifications contribute to severity. Identifying changes may help uncover molecular mechanisms underlying pathogenesis and new therapeutic targets.
Journal Article A Comparative Genetic Analysis of the Subterranean Termite Genus Reticulitermes (Isoptera: Rhinotermitidae) Get access James W Austin, Austin Department Biology, Middle East Technical University, Ankara, TurkeyCurrent address: Entomology, University Arkansas, Fayetteville, AR 72701 Search for other works by this author on: Oxford Academic Google Scholar Allen L Szalanski, Szalanski (aszalan@uark.edu) Paolo Uva, Uva C.N.R.S.-I.R.B.I., Faculté des Sciences, Tours, France...
Wiskott-Aldrich syndrome (WAS) is a severe X-linked immunodeficiency characterized by microthrombocytopenia, eczema, recurrent infections, and susceptibility to autoimmunity lymphomas. Hematopoietic stem cell transplantation the treatment of choice; however, administration WAS gene-corrected autologous hematopoietic cells has been demonstrated as feasible alternative therapeutic approach.Because B-cell homeostasis perturbed in patients with restoration immune competence one main goals, we...
Colorectal cancer (CRC) ranks as the most frequent carcinoma worldwide. CRC patients show strong prognostic differences and responses to treatment, 20% have incurable metastatic disease at diagnosis. We considered it essential investigate mechanisms that control cellular regulatory networks, such miRNA-mRNA interaction, known be involved in pathogenesis. conducted a human miRNome analysis by TaqMan low density array, comparing normal colon tissue (NCT, experimentally identified gene targets...
Colorectal cancer (CRC) is a leading cause of death worldwide and about 20% metastatic at diagnosis untreatable. The anti-EGFR therapy in patients led by the presence KRAS-mutations tumor tissue. KRAS-wild-type CRC showed positive response rate 70% to cetuximab or panitumumab combined with chemotherapy. MiRNAs are promising markers oncology could improve our knowledge on pathogenesis drug resistance patients. This class molecules represents an opportunity for development miRNA-based...
Mutations in the recombinase-activating genes cause severe immunodeficiency, with a spectrum of phenotypes ranging from combined immunodeficiency to immune dysregulation. Hematopoietic stem cell transplantation is only curative option, but high risk graft failure and poor reconstitution have been observed absence myeloablation.Our aim was improve multilineage engraftment; we tested nongenotoxic conditioning anti-CD45 mAbs conjugated saporin CD45 (CD45-SAP).Rag1-KO Rag1-F971L mice, which...
Ants display a range of fascinating behaviors, remarkable level intra-species phenotypic plasticity and many other interesting characteristics. Here we present new tool to study the molecular mechanisms underlying these traits: tentatively annotated expressed sequence tag (EST) resource for fire ant Solenopsis invicta. From normalized cDNA library obtained 21,715 ESTs, which represent 11,864 putatively different transcripts with very diverse functions. All ESTs were used construct microarray.
Abstract Autosomal recessive osteopetrosis (ARO) is a rare genetic bone disease with genotypic and phenotypic heterogeneity, sometimes translating into delayed diagnosis treatment. In particular, cases of intermediate severity often constitute diagnostic challenge represent good candidates for exome sequencing. Here, we describe the tortuous path to identification molecular defect in two siblings, which diagnosed early childhood followed milder course, allowing them reach adult age...
Aspergillus flavus is a cosmopolitan fungus able to respond external stimuli and shift both its trophic behaviour the production of secondary metabolites, including that carcinogen aflatoxin (AF). To better understand adaptability this fungus, we examined genetic phenotypic responses within when grown under four conditions mimic different ecological niches ranging from saprophytic growth parasitism. Global transcription changes were observed in primary metabolism response these conditions,...