A5065981830- Liver Disease Diagnosis and Treatment
- Milk Quality and Mastitis in Dairy Cows
- RNA and protein synthesis mechanisms
- Genomics and Phylogenetic Studies
- Burkholderia infections and melioidosis
- Endoplasmic Reticulum Stress and Disease
- Forensic and Genetic Research
- RNA Research and Splicing
- Cardiac electrophysiology and arrhythmias
- Ion channel regulation and function
- Antimicrobial Resistance in Staphylococcus
- Escherichia coli research studies
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Paleopathology and ancient diseases
- Cancer Genomics and Diagnostics
- Archaeology and ancient environmental studies
- Chromosomal and Genetic Variations
- Chronic Myeloid Leukemia Treatments
- Diet, Metabolism, and Disease
- Probiotics and Fermented Foods
- Barrier Structure and Function Studies
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Health and Wellbeing Research
- Plant and Fungal Interactions Research
- Forensic Anthropology and Bioarchaeology Studies
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
2015-2019
National Research Council
2013-2019
Institute of Biomedical Technologies
2013-2019
Istituto Nazionale Genetica Molecolare
2015-2018
University of Milan
2011-2017
National Academies of Sciences, Engineering, and Medicine
2013-2015
Spanish National Cancer Research Centre
2012
Nonalcoholic fatty liver disease is epidemiologically associated with hepatic and metabolic disorders. The aim of this study was to examine whether fat accumulation has a causal role in determining damage insulin resistance.We performed Mendelian randomization analysis using risk alleles PNPLA3, TM6SF2, GCKR MBOAT7, polygenic score for fat, as instruments. We evaluated complementary cohorts at-risk individuals from the general population: 1515 biopsy cohort (LBC), 3329 Swedish Obese Subjects...
Here, we present APPRIS (http://appris.bioinfo.cnio.es), a database that houses annotations of human splice isoforms. has been designed to provide value manual the genome by adding reliable protein structural and functional data information from cross-species conservation. The visual representation provided for each gene allows annotators researchers alike easily identify changes brought about splicing events. In addition collecting, integrating analyzing predictions effect events, also...
The patatin‐like phosholipase domain‐containing 3 ( PNPLA3 ) rs738409 polymorphism (I148M) is a major determinant of hepatic fat and predisposes to the full spectrum liver damage in nonalcoholic fatty disease (NAFLD). aim this study was evaluate whether additional coding variants contribute NAFLD susceptibility, first individuals with contrasting phenotypes (with early‐onset vs. very low aminotransferases) then large validation cohort. Rare were not detected by sequencing regions intron‐exon...
Abstract Nonalcoholic fatty liver disease (NAFLD) is a rising cause of hepatocellular carcinoma (HCC). We examined whether inherited pathogenic variants in candidate genes (n = 181) were enriched patients with NAFLD-HCC. To this end, we resequenced peripheral blood DNA 142 NAFLD-HCC, 59 NAFLD advanced fibrosis, and 50 controls, considered 404 healthy individuals from 1000 G. Pathogenic defined according to ClinVar, likely as rare predicted alter protein activity. In NAFLD-HCC patients,...
Specific promoter recognition by bacterial RNA polymerase is mediated σ subunits, which assemble with core enzyme (E) during transcription initiation. However, 70 (the housekeeping subunit) and S (an alternative subunit mostly active slow growth) recognize almost identical sequences, thus raising the question of how selectivity achieved in cell. To identify novel sequence determinants for selective recognition, we performed run-off/microarray (ROMA) experiments saturated either (Eσ ) or...
In patients with non-alcoholic fatty liver disease (NAFLD), insulin resistance (IR) associates fibrosis progression independently of the hepatic inflammation, but mechanisms are still unclear. We modeled independent contribution inflammation (non-alcoholic steatohepatitis: NASH) by exploiting methionine-choline deficient (MCD) diet, and that IR receptor (InsR) haploinsufficieny (InsR+/–) in pathogenesis C57BL/6 mice. confirmed study findings 96 NAFLD. InsR+/– enhanced fat content impaired...
Somatic mutations of MPL exon 10, mainly involving a W515 substitution, have been described in JAK2 (V617F)-negative patients with essential thrombocythemia and primary myelofibrosis. We used direct sequencing high-resolution melt analysis to identify 10 570 myeloproliferative neoplasms, allele specific PCR deep further characterize subset mutated patients. were detected 33 221 (15%) or Only one patient carried both (V617F) (W515L). High-resolution identified abnormal patterns all the cases,...
Next generation sequencing (NGS) technologies have revolutionized gene expression studies and functional genomics analysis. However, further improvement of RNA protocols is still desirable, in order to reduce NGS costs increase its accuracy. In bacteria, a major problem the abundance ribosomal (rRNA), which accounts for 95-98% total can therefore hinder sufficient coverage mRNA, main focus transcriptomic studies. Thus, efficient removal rRNA necessary achieve optimal coverage, good detection...
// Ingrid Cifola 1, * , Marta Lionetti 2, 3, Eva Pinatel 1 Katia Todoerti 4 Eleonora Mangano Alessandro Pietrelli Sonia Fabris 3 Laura Mosca Vittorio Simeon Maria Teresa Petrucci 5 Fortunato Morabito 6 Massimo Offidani 7 Francesco Di Raimondo 8 Antonietta Falcone 9 Tommaso Caravita 10 Cristina Battaglia 11 Gianluca De Bellis Antonio Palumbo 12 Pellegrino Musto 13 Antonino Neri Institute for Biomedical Technologies, National Research Council, Milan, Italy 2 Department of Clinical Sciences and...
It has been widely demonstrated that tolerance against gut microbiota is compartmentalized to mucosal sites where microbes mostly reside. How the commensal bacteria are excluded from entrance into blood stream via intestinal capillaries located beneath epithelium was not clear. We recently described existence of a new anatomical structure, 'gut vascular barrier' (GVB), both in murine and human intestines plays fundamental role avoiding indiscriminate trafficking circulation. The barrier...
Staphylococcus aureus (Staph. aureus) is one of the major pathogens causing mastitis in dairy ruminants worldwide. The chronic nature Staph. infection enhances contagiousness risk and diffusion herds. In order to identify factors involved intra-mammary (IMI) cows, we investigated molecular characteristics two groups strains belonging ST8 ST398, differing clinical properties, through comparison whole genome transcriptome sequencing.The strains, originated from high IMI prevalence herds other...
In an increasing proportion of cases, hepatocellular carcinoma (HCC) develops in patients with nonalcoholic fatty liver disease (NAFLD). Mutations telomerase reverse transcriptase (hTERT) are associated familial diseases. The aim this study was to examine telomere length and germline hTERT mutations as NAFLD-HCC. 40 NAFLD-HCC, 45 NAFLD-cirrhosis 64 healthy controls, peripheral blood evaluated by qRT-PCR coding regions intron-exon boundaries sequenced. We further analyzed 78 affected primary...
Multiple myeloma (MM) is a clonal proliferation of bone marrow plasma cells characterized by highly heterogeneous genetic background and clinical course, whose pathogenesis remains largely unknown. Long ncRNAs (lncRNAs) are large class non-protein-coding RNA, involved in many physiological cellular genomic processes as well carcinogenesis tumor evolution. Although still its infancy, the role lncRNAs MM progressively expanding. Besides studies on selected candidates, expression at genome-wide...
Brugada syndrome (BrS) is an inherited cardiac arrhythmic disorder that can lead to sudden death, with a prevalence of 1:5000 in Caucasian population and affecting mainly male patients their third fourth decade life. BrS as autosomal dominant trait; however, date genetic bases have been only partially understood. Indeed most mutations are located the SCN5A gene, encoding alpha-subunit Na(+) channel, but >70% still remain genetically undiagnosed. Although 21 other genes associated...
Cutaneous malignant melanoma is the most fatal skin cancer and although improved comprehension of its pathogenic pathways allowed to realize some effective molecular targeted therapies, novel targets drugs are still needed. Aiming add genetic information potentially useful for discovery, we performed an extensive genomic characterization by whole-exome sequencing SNP array profiling six cutaneous cell lines derived from metastatic patients. We obtained a total 3,325 coding single nucleotide...
Burkholderia thailandensis, although normally avirulent for mammals, can infect macrophages in vitro and has occasionally been reported to cause pneumonia humans. It is therefore used as a model organism the human pathogen B. pseudomallei, which it closely related phylogenetically. We characterized thailandensis clinical isolate CDC2721121 (BtCDC272) at genome level studied its response environmental cues associated with host colonization, namely, temperature oxygen limitation. Effects of...
Acinetobacter baumannii can cause sepsis with high mortality rates. We investigated whether glucose sensing might play a role in A. pathogenesis.We carried out transcriptome analysis and extracellular polysaccharide determination an clinical isolate grown on complex medium or without supplementation, assessed its ability to induce production of inflammatory cytokines human macrophages.Growth glucose-supplemented strongly enhanced sugar anabolism, resulting increasing lipopolysaccharide...
In the last years several phylogeographic studies of both extant and extinct red deer populations have been conducted. Three distinct mitochondrial lineages (western, eastern North-African/Sardinian) identified reflecting different glacial refugia postglacial recolonisation processes. However, little is known about genetics Alpine no DNA sequences from archaeological specimens are available. Here we provide first an Copper Age Cervus elaphus. was extracted hair shafts which were part remains...
Next-generation sequencing technologies have become the most powerful tool to discover genetic variants associated with human diseases. Although dramatic reductions in costs facilitate use wet-lab and clinics, huge amount of data generated renders their management by non-expert researchers physicians extremely difficult. Therefore, there is an urgent need novel approaches tools aimed at getting 'end-users' closer data, facilitating access non-bioinformaticians, speed-up functional...
The 1.8 Å resolution crystal structure of a conserved domain the potential Burkholderia pseudomallei antigen and trimeric autotransporter BPSL2063 is presented as structural vaccinology target for melioidosis vaccine development. Since (1090 amino acids) hosts only one domain, expression/purification full-length protein proved to be problematic, domain-filtering library was generated using β-lactamase reporter gene select further domains. As result, two domains (D1 D2) were identified...
Efflux-mediated macrolide resistance due to mef(E) and mel, carried by the mega element, is common in Streptococcus pneumoniae, for which it was originally characterized, but rare pyogenes In S. pyogenes, previously found be enclosed Tn2009, a composite genetic element of Tn916 family containing tet(M) conferring erythromycin tetracycline resistance. this study, isolates mef(E), apparently not associated with other determinants, were examined characterize context mega. By whole-genome...