- Iron Metabolism and Disorders
- DNA and Nucleic Acid Chemistry
- Hemoglobinopathies and Related Disorders
- Genomics and Chromatin Dynamics
- RNA regulation and disease
- Congenital gastrointestinal and neural anomalies
- RNA Interference and Gene Delivery
- Polyamine Metabolism and Applications
- Advanced biosensing and bioanalysis techniques
- Congenital Anomalies and Fetal Surgery
- Bacteriophages and microbial interactions
- Hereditary Neurological Disorders
- Family Support in Illness
- Cancer-related cognitive impairment studies
- DNA Repair Mechanisms
- Collagen: Extraction and Characterization
- CRISPR and Genetic Engineering
- NF-κB Signaling Pathways
- RNA and protein synthesis mechanisms
- Acute Myeloid Leukemia Research
- SARS-CoV-2 and COVID-19 Research
- Mycobacterium research and diagnosis
- COVID-19 and Mental Health
- Molecular Biology Techniques and Applications
- Digestive system and related health
Ospedale Policlinico San Martino
2024
Ente Ospedaliero Ospedali Galliera
2010-2021
Istituto Giannina Gaslini
2005-2013
Laboratory of Molecular Genetics
2005-2010
University of Genoa
1993-2010
Istituti di Ricovero e Cura a Carattere Scientifico
2010
Children's Hospital
2009
The University of Texas at Austin
2000
The University of Texas MD Anderson Cancer Center
1991-1998
Environmental and Occupational Health Sciences Institute
1997
Due to the resurgence of tuberculosis and emergence multidrug-resistant strains, fluoroquinolones (FQ) are being used in selected patients, but FQ-resistant strains Mycobacterium have rapidly begun appear. The mechanisms involved FQ resistance need be elucidated if effectiveness this class antibiotics is improved prolonged. By using rapid-growing smegmatis as a model genetic system, gene was that confers low-level when present on multicopy plasmid. This gene, lfrA, encodes putative membrane...
Preclinical and clinical studies demonstrate the feasibility of treating β-thalassemia Sickle Cell Disease (SCD) by lentiviral-mediated transfer human β-globin gene. However, previous have not addressed whether ability lentiviral vectors to increase hemoglobin synthesis might vary in different patients.We generated carrying gene with without an ankyrin insulator compared their induce vitro thalassemic mice. We found that insertion leads higher, potentially therapeutic levels through a novel...
Abstract Lactoferrin, a single chain cationic glycoprotein, present in the secondary granules of neutrophils, acts as negative feedback regulator myelopoiesis. Specific receptors for lactoferrin were detected on surface different hematopoietic cell types. The influence growth culture has been reported. Interactions with DNA also demonstrated. In paper we confirm presence specific binding sites K562 cells and estimate number dissociation constant. By Western blotting analysis performed...
We have cloned a mouse cDNA that is member of the Krox gene family and encodes protein we named c-Krox. The c-Krox contains three zinc fingers Cys2His2 type. binds specifically to guanine-rich cis-acting element present twice in promoter alpha 1(I) collagen gene. Study expression shows markedly enriched skin, one two major sites type I synthesis, but absent bone, other main collagen-producing tissue, indicating differentially regulated skin bone. DNA transfection experiments NIH 3T3...
Congenital anomalies of the kidney and urinary tract (CAKUT) can be associated with Hirschsprung disease (HSCR). Based on common genetic background enteric nervous system development, reported association CAKUT HSCR seems underestimated. Therefore, we designed a prospective study aimed at determining prevalence in patients identifying RET, glial cell line-derived neurotrophic factor (GDNF), GDNF family receptor α1 (GFRα1) mutations or haplotypes this subset patients. Eighty-four...
Diabet. Med. 27, 1195–1200 (2010) Abstract Aims Permanent neonatal diabetes is a rare condition affecting 1 in 300 000–400 000 live births; only 60% of cases it possible to identify the genetic defect. The pancreatic agenesis rarer still. Only two genes are known determine this phenotype: PDX‐1 and PTF1A. Congenital heart defects among most common developmental anomalies, 1% newborns, GATA4 gene less frequently involved these disorders. An Italian child with an atrial septal defect was...
The formation of triple helical DNA has been evoked in several cellular processes including transcription, replication, and recombination. Using conventional affinity chromatography, we purified from Saccharomyces cerevisiaewhole-cell extract a 35-kDa protein that avidly specifically bound purine motif triplex (with K d 61 pm) but not pyrimidine or duplex DNA. Peptide microsequencing identified this as the product theSTM1 gene. Confirmation Stm1p is triplex-binding was obtained by...
One piece of evidence indicating that triple-helical DNAs exist in vivo would be the demonstration cellular proteins recognize such structures. Using oligonucleotide probes containing a GT-rich purine-motif triplex, from either HeLa nuclear or cytoplasmic extracts and electrophoretic mobility shift assays, we identified four specific human protein−triplex complexes. Proteins these complexes did not an analogous homopurine/homopyrimidine duplex DNA pyrimidine-motif triplex but triplexes...
The natural polyaminesputrescine, spermidine, and spermineare known to stabilize pyrimidine−purine−pyrimidine purine−purine−pyrimidine triplex DNA formation. We studied the ability of two tetramine pentamine analogs spermine their bis(ethyl) derivatives formation between 5'-TG3TG4TG4TG3T-3' its target duplex probe, consisting oligonucleotides 5'-TCGAAG3AG4AG4AG3A-3' 5'-TCGATC3TC4TC4TC3T-3'. used electrophoretic mobility shift assay (EMSA), melting temperature (Tm) measurements, circular...
There is growing interest in medical practices other than conventional medicine (complementary medicine, CM). CM widely used by cancer patients. The purpose of the present study was to evaluate knowledge and attitude towards a sample Italian allopathic oncologists.Seventy-six oncologists Istituto Nazionale per la Ricerca sul Cancro Genoa, 80 working at Tumori Fondazione Pascale Naples, 100 hospital practitioners Province Sondrio were asked answer self-administered structured questionnaire on...
Utilization of oligodeoxyribonucleotides to Inhibit specific gene transcription In vivo (antigene strategy) requires the efficient formation triple helices under physiological conditions. However, pyrlmldlne-mottf triplexes are not favored at pH, and concentrations potassium cations hamper purine-motrf triplex formation. Here we investigated effects polyamines on promoting by G/T-rich containing either phosphodiester or a diastereomeric mixture phosphorothioate linkages. Compared with Mg2+,...
Triple helices represent an attractive method for modulating specific gene expression. In particular, cross-linking between a triplex-forming oligonucleotide (TFO) and its duplex DNA target, typically through the formation of psoralen photoadducts, allows efficient blocking elongation by RNA polymerases in vitro. However, vivo, this approach is limited repair photoadduct. Here we describe use oligodeoxyribonucleotide 19mer psoralen-modified TFO to form covalent linkages both strands targeted...
The formation of triple-helical DNA has been implicated in several cellular processes, including transcription, replication and recombination. While there is no direct evidence for triplexes vivo, proteins that specifically recognize triplex have described. Using a purine-motif probe southwestern library screening, we isolated five independent clones expressing the same C-terminal 210 amino acids Saccharomyces cerevisiae protein Cdp1p fused with beta-galactosidase. In electrophoretic...
Abstract An accurate assessment of body iron accumulation is essential for the diagnosis and therapy overload in diseases such as thalassemia or hemochromatosis. Magnetic detector susceptometry MRI are noninvasive techniques capable detecting liver. Although transverse relaxation rate measured by can be correlated with presence iron, a calibration step needed to obtain liver concentration. provides an evaluation whole In this article, we describe retrospective observational study comparing...
Abstract Introduction A new national survey has been carried out by the Italian Centers for Cognitive Disorders and Dementias (CCDDs). The aim of this is to provide a comprehensive description characteristics, organizational aspects CCDDs, experiences during COVID-19 pandemic. Methods list all CCDDs was requested from delegates each region. online questionnaire divided in two main sections: profile section, containing information on location accessibility, data collection form covering...
ABSTRACT The LpS1 α and β genes of Lytechinus pictus are activated at the late cleavage stage embryogenesis, with mRNAs accumulating only in lineages contributing to aboral ectoderm. We had shown previously that 762 bp 5’ flanking DNA from LpS1/β gene was sufficient for proper temporal ectoderm specific expression. In present study, we identified a strong positive cis-regulatory element −70 −75 promoter sequence (G)6 similar, more distal cis-element −721 −726 bp. proximal ‘G-string’...
Several studies have established an association between iron chelation therapy with deferasirox and hematopoietic improvement in patients myelodysplastic syndromes. There are no data from β-thalassemia major. In a cross-sectional study, we evaluated the absolute number of several peripheral progenitors (colony-forming unit-granulocyte/macrophage, erythroid burst-forming units, colony-forming unit-granulocyte/erythrocyte/macrophage/megakaryocyte, long-term culture-initiating cells) 30 major...
An accurate assessment of body iron accumulation is essential for the diagnosis and therapy overload in diseases, such as hemochromatosis, thalassemia other forms severe anemias. The magnetic detector (MID) a room-temperature susceptometer, which measures total liver. Since February 2005, about 600 patients have been assessed using this device. obtained by calculating difference between measured magnetization signal patient patient's background signal. latter that would generate with normal...