A5024273612- Protein Tyrosine Phosphatases
- Diabetes and associated disorders
- Pancreatic function and diabetes
- Galectins and Cancer Biology
- Endometriosis Research and Treatment
- Cardiomyopathy and Myosin Studies
- Genetics and Neurodevelopmental Disorders
- Adenosine and Purinergic Signaling
- RNA modifications and cancer
- Birth, Development, and Health
- Cardiovascular Function and Risk Factors
- Reproductive System and Pregnancy
- Cancer-related Molecular Pathways
- Adipose Tissue and Metabolism
- Diet, Metabolism, and Disease
- Autism Spectrum Disorder Research
- Congenital heart defects research
- Virus-based gene therapy research
- Asthma and respiratory diseases
- Pregnancy and preeclampsia studies
- Atherosclerosis and Cardiovascular Diseases
- Cardiovascular Disease and Adiposity
- Uterine Myomas and Treatments
- Cytokine Signaling Pathways and Interactions
- Ubiquitin and proteasome pathways
University of Rome Tor Vergata
2008-2018
Center for Neurosciences
2005
University of Wales
2002
National Research Council
2002
Swansea University
2002
National Academies of Sciences, Engineering, and Medicine
2001
A missense C1858T single nucleotide polymorphism in the PTPN22 gene recently emerged as a major risk factor for human autoimmunity. encodes lymphoid tyrosine phosphatase (LYP), which forms complex with kinase Csk and is critical negative regulator of signaling through T cell receptor. The results LYP-R620W variation within LYP-Csk interaction motif. LYP-W620 exhibits greatly reduced gain-of-function inhibitor signaling. Here we show that LYP constitutively interacts its substrate Lck...
The objectives of the present study were to assess occurrence human adenoviruses (HAdVs) in paediatric patients with gastroenteritis Albania and characterize HAdV strains. Faecal specimens from children admitted acute Paediatric Hospital Tirana screened for HAdV, using broad-range primers targeting hexon gene, combination species-specific fiber gene. Phylogenetic analysis was then performed genetic relationships among different sequences between samples those prototype Adenovirus DNA...
Abstract The missense PTPN22 C1858T polymorphism recently emerged as an important population‐independent risk factor for type 1 diabetes (T1D) and other autoimmune diseases. gene encodes the lymphoid tyrosine phosphatase (LYP), a negative regulator of signal transduction through T‐cell receptor. Although frequency is variable among different ethnic groups, association between *T1858 T1D has been replicated in several populations. Here, we contribute first replication populations from...
The IL-4RA locus encodes for the alpha chain of IL-4 receptor, and is both a functional positional candidate gene atopy allergic disease. Recently Ober et al. have shown that study haplotypes at multiple loci in could be more informative than separate single nucleotide polymorphisms (SNPs). One hundred fifty subjects affected by atopic asthma 150 healthy control were studied English population (Oxford district). Subjects controls genotyped Ile50Val, Ser478Pro Gln551Arg polymorphism receptor...
Background: The developmental origin theory of coronary heart disease proposes that undernutrition in utero permanently changes body functions and metabolism leading to an increased risk artery diseases (CAD) adult life.Some studies support this but others suggest birth weight (BW) is not a major factor for cardiovascular diseases.Gender differences concerning the association between BW factors CAD have been reported some others.In paper we analyzed effect gender diabetes on relationship...
Asthma is an airway disorder characterized by bronchial inflammation. An imbalance between the oxidative forces and antioxidant defense systems has been implicated in pathogenesis of asthma. Glutathione S-transferases (GSTs) play important role cellular protection against Several studies have investigated genetic variability GSTM1, GSTP1 GSTT1 enzymes asthma development with conflicting results. Moreover, our previous independent case-control study on GSTs asthma, we found that GSTA1 GSTO2...
<i>Objectives:</i> Assuming an immune component in the pathogenesis of atherosclerosis, we have investigated a possible association between coronary artery disease (CAD) and acid phosphatase locus 1 (ACP1) genetic polymorphism, which has previously been found to be associated with disorders. <i>Methods:</i> 226 subjects admitted hospital for CAD, 358 consecutive newborn infants, 279 adult type 2 diabetes without CAD 137 adults from Caucasian population Rome were...
In type 1 diabetes mellitus (T1D) p53 pathways are up-regulated and there is an increased susceptibility to apoptosis. The hypothesis that codon 72 polymorphism could be associated with T1D. A total of 286 children T1D a control sample 730 subjects were studied. was analysed by polymerase chain reaction. large increase *Arg/*Arg observed in patients age at onset < 6 years. strong linear correlation between genotype females. involvement the apoptosis suggests during autoimmune process leading...
Recent investigations suggest that Adenosine Deaminase (ADA) could play a role in susceptibility to rheumatoid arthritis (RA). The purpose of our study is investigate the possible genetic variability ADA RA. We studied three intragenic polymorphisms, ADA1, ADA2 and ADA6, sample 91 subjects with RA 246 healthy from same Caucasian population compared genotype pairwise haplotype distributions between cases controls. No statistically significant differences controls are observed for genotypes. A...
Platelet-derived growth factor (PDGF) and its receptors (PDGFRs) play a key role in the regulation of embryonic postnatal development male gonads. PDGF deficiency is associated with severe spermatogenic impairment. ACP1 phosphoprotein tyrosine phosphatase that able to dephosphorylate PDGFR, decreasing activity as factor. The enzyme polymorphic shows strong differences enzymatic among genotypes. At Outpatient Department for Infertility, University Rome La Sapienza, we investigated effect...
Previous published studies have identified a class of women, Normal Weight Obese women (NWO) with normal BMI and high fat content. An important role Interleukin-15 (IL-15) has been documented in facilitating muscle proliferation promoting depletion. Indeed the presence three types IL-15 receptor subunits tissue suggests direct effect on adipose tissue. We studied single nucleotide polymorphisms (SNP) IL-15Rα gene investigated their relationship NWO phenotype. considered two classes according...
Background:Common biological features between cancer and atherosclerosis suggest possible association of p53 with atherosclerotic diseases, but data on such a relationship are controversial, suggesting interactions other variables.Acid phosphatase locus 1 (ACP ) is polymorphic gene that controls the synthesis an enzyme involved in important metabolic functions.Since ACP associated coronary artery disease (CAD), we searched for this codon 72 polymorphism regard to their effects susceptibility...
Protein tyrosine phosphatases (PTPases) have recently been recognized as important modulators of various signal transduction pathways in immune cells. Genetic polymorphisms described genes codifying for members this family enzymes, and the genetics PTPases is predicted to play an role etiology diseases their clinical variability. The low molecular weight protein phosphatase (ACP1 or LMPTP) one few with a known genetic polymorphism, has proposed be associated atopic dermatitis small sample...
We recently reported an association between the PTPN22 genetic polymorphism and coronary artery disease (CAD) in nondiabetic subjects. Since recent studies suggest that p53 may be involved atherosclerosis, we have investigated a possible interaction codon 72 polymorphisms regarding their effects on susceptibility to CAD subjects.The genotypes of were determined by DNA analysis 128 subjects with CAD, 122 healthy blood donors 117 cardiovascular diseases without CAD.In *Arg/*Arg genotype 72, no...
<i>Background:</i> It is likely that besides developmental and environmental factors, genetic factors also play an important role in Th1/Th2 orientation susceptibility to related disorders. Thus, for each factor involved one would expect opposite pattern of towards Th1- Th2-associated diseases. <i>Methods:</i> We report a comparative analysis the association four polymorphisms with bronchial asthma (Th2 disease) Crohn’s disease (CD; Th1 disease). The study population...
We have investigated possible interactions between ACP1 and Hp concerning their effects on the susceptibility to convulsive disorders. 129 children with idiopathic generalized epilepsy tonic clonic seizures (IGE) 127 controls were studied in population of Rome. There is a significant interaction epilepsy. The association depends genotypes. In carriers *B/*B genotype risk much lower *1/*1 than other types. This not observed types.The present data suggest an epistatic action effect
Recently, it has been shown that PTPN22 genetic polymorphism is associated with phenotypes related to the risk of atherosclerosis. In present note, we have searched for a possible association coronary artery disease (CAD).One hundred and thirty-four non-diabetic subjects admitted hospital CAD 174 healthy (blood donors) were studied. genotypes determined by DNA analysis. Statistical analyses performed SPSS programs.In patients, proportion carriers *T allele significantly higher compared...