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Search Results: 1 - 10 of 204331 matches for " Marco G Baroni "
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MODY-like diabetes associated with an apparently balanced translocation: possible involvement of MPP7 gene and cell polarity in the pathogenesis of diabetes
Elizabeth J Bhoj, Stefano Romeo, Marco G Baroni, Guy Bartov, Roger A Schultz, Andrew R Zinn
Molecular Cytogenetics , 2009, DOI: 10.1186/1755-8166-2-5
Abstract: Mutations in coding exons and splice sites of known MODY genes were first ruled out by PCR amplification and DNA sequencing. Fluorescent in situ hybridization (FISH) studies demonstrated that the translocation did not disrupt two known diabetes-related genes on 10p12. The translocation breakpoints were further mapped to high resolution using FISH and somatic cell hybrids and the junctions PCR-amplified and sequenced. The translocation did not disrupt any annotated transcription unit. However, the chromosome 10 breakpoint was 220 kilobases 5' to the Membrane Protein, Palmitoylated 7 (MPP7) gene, which encodes a protein required for proper cell polarity. This biological function is shared by HNF4A, a known MODY gene. Databases show MPP7 is highly expressed in mouse pancreas and is expressed in human islets. The translocation did not appear to alter lymphoblastoid expression of MPP7 or other genes near the breakpoints.The balanced translocation and MODY-like diabetes in the proband could be coincidental. Alternatively, the translocation may cause islet cell dysfunction by altering MPP7 expression in a subtle or tissue-specific fashion. The potential roles of MPP7 mutations in diabetes and perturbed islet cell polarity in insulin secretion warrant further study.Although common diabetes mellitus is polygenic, there are also rare Mendelian forms of the disease. Maturity-onset diabetes of the young (MODY) is a collection of uncommon monogenic insulin-secretion pathologies. It was first described in 1960 in young lean patients who had only mild diabetes, with little progression after years of follow up [1]. Clinical criteria for MODY include autosomal dominant inheritance, onset before age 30, correction of fasting hyperglycemia without insulin for at least two years post-diagnosis, and absence of ketosis. The estimated contribution to the total diabetic population ranges from 2–5% [2].It was hypothesized that the genes that cause MODY also contribute to the genetic suscept
Search for genetic variants in the p66Shc longevity gene by PCR-single strand conformational polymorphism in patients with early-onset cardiovascular disease
Federica Sentinelli, Stefano Romeo, Fabrizio Barbetti, Andrea Berni, Emanuela Filippi, Marzia Fanelli, Mara Fallarino, Marco G Baroni
BMC Genetics , 2006, DOI: 10.1186/1471-2156-7-14
Abstract: We searched for sequence variations in the p66Shc specific region of the Shc gene and its upstream promoter by PCR-SSCP in a selected group of early onset coronary artery disease (CAD) subjects (n. 78, mean age 48.5 ± 6 years) and in 93 long-living control subjects (mean age 89 ± 6 years).The analysis revealed two variant bands. Sequencing of these variants showed two SNPs: -354T>C in the regulatory region of p66Shc locus and 92C>T in the p66 specific region (CH2). Both these variants have never been described before. The first substitution partially modifies the binding consensus sequence of the Sp1 transcription factor, and was detected only in two heterozygous carriers (1 CAD subjects and 1 control subject). The 92C>T substitution in the CH2 region consists in an amino acid substitution at codon 31 (proline to leucine, P31L), and was detected in heterozygous status only in one CAD subject. No subjects homozygous for the two newly described SNPs were found.Only two sequence variations in the p66Shc gene were observed in a total of 171 subjects, and only in heterozygotes. Our observations, in accordance to other studies, suggest that important variations in the p66Shc gene may be extremely rare and probably this gene is not involved in the genetic susceptibility to CAD.Increasing evidence indicates that reactive oxygen species (ROS) may participate in the pathogenesis of various diseases, including cardiovascular disorders. Support to this comes from the experimental demonstration that vessel walls of patients with atherosclerotic risk factors are characterized by a significant increase in vascular ROS production [1].It has been reported that the p66Shc longevity gene increases intracellular reactive oxygen species (ROS), thereby affecting the rate of oxidative damage to nucleic acids [2]. The human Shc locus (Src homologous and collagen) encodes three proteins with relative molecular masses of 46K (p46Shc), 52K (p52Shc) and 66K (p66Shc). All three proteins share a
Genetic study of common variants at the Apo E, Apo AI, Apo CIII, Apo B, lipoprotein lipase (LPL) and hepatic lipase (LIPC) genes and coronary artery disease (CAD): variation in LIPC gene associates with clinical outcomes in patients with established CAD
Marco G Baroni, Andrea Berni, Stefano Romeo, Marcello Arca, Tullio Tesorio, Giovanni Sorropago, Umberto Di Mario, David J Galton
BMC Medical Genetics , 2003, DOI: 10.1186/1471-2350-4-8
Abstract: 102 subjects with established coronary artery disease and 104 unrelated normal subjects were studied. CAD Patients were followed up for 8 years, and clinical CAD outcomes (a second coronary angioplasty (PTCA), myocardial infarction, coronary artery by-pass graft (CABG), cardiovascular deaths), available from 60 subjects, were related to the genetic variants by multiple regression analysis. Results. Of the six lipid loci studied (for a total of 11 polymorphisms) only the apolipoprotein E, Apo B and LIPC polymorphisms distinguished between case and controls. However, multivariate analysis accounting for clinical and metabolic predictors of CAD showed that only the ApoB Xba1 and ApoE4 polymorphism associated with CAD in this Italian population. When lipid parameters were related to genotypes, the ApoE, ApoB, and LIPC gene polymorphisms were associated to various markers of dyslipidaemia in the CAD patients, confirming previous reports. When the occurrence of a second cardiovascular event was related to genotypes, an independent role was observed for the LIPC gene T202T variant.variation in LIPC (hepatic lipase) gene associates with clinical outcomes in Italian patients with established CAD. Further studies on the LIPC gene in CAD patients are warranted, in particular looking at the possible influences on clinical outcomes.Coronary artery disease (CAD) accounts for roughly one-half of all cardiovascular deaths and is a major cause of morbidity and mortality. Twin studies [1,2] have demonstrated that the concordance rates for monozygotic twins are higher than those for dizygotic twins and familial aggregation of CAD has long been known [1,3,4]. Current evidence demonstrates that positive family history and several alterations in lipid metabolism, including high LDL (low density lipoprotein) and low HDL (high density lipoprotein) cholesterol levels (separately as well as jointly), high triglycerides levels, high apoB levels, high lipoprotein (a) (Lp(a) levels, are all imp
BagPack: A general framework to represent semantic relations
Ama? Herda?delen,Marco Baroni
Computer Science , 2009,
Abstract: We introduce a way to represent word pairs instantiating arbitrary semantic relations that keeps track of the contexts in which the words in the pair occur both together and independently. The resulting features are of sufficient generality to allow us, with the help of a standard supervised machine learning algorithm, to tackle a variety of unrelated semantic tasks with good results and almost no task-specific tailoring.
Lack of effect of apolipoprotein C3 polymorphisms on indices of liver steatosis, lipid profile and insulin resistance in obese Southern Europeans
Federica Sentinelli, Stefano Romeo, Cristina Maglio, Michela Incani, Maria A Burza, Francesca Scano, Federica Coccia, Efisio Cossu, Frida Leonetti, Marco G Baroni
Lipids in Health and Disease , 2011, DOI: 10.1186/1476-511x-10-93
Abstract: To determine if the APOC3 variants alter the susceptibility of obese subjects to develop liver damage, hypertrigliceridaemia, and insulin-resistance.The study was carried out on 585 unrelated obese Italians (median body mass index BMI = 41 kg/m2) who were genotyped for the rs2854116 and rs2854117 variants. All participants underwent oral glucose tolerance tests (OGTT), with measurement of glucose, insulin, lipid parameters. Indices of insulin-resistance (HOMA and ISI) were calculated. Alanine transaminase (ALT) and aspartate transaminase (AST) were used as markers of liver injury.The study subjects were divided into two groups: those homozygous for the wild-type alleles at both SNPs (-482C and -455T alleles) and those who were carriers of at least one variant allele or both (-482T, -455C or both). Also each SNP was analysed independently. No significant differences were found in ALT and AST levels and in the lipid profile between the two groups. Insulin concentrations, glucose tolerance and insulin sensitivity were similar in the two groups.We did not identify any significant association between APOC3 polymorphisms and fatty liver disease, lipids, and insulin-resistance in obese subjects, thus not confirming the suggested role of these APOC3 gene sequence variants.Non-alcoholic fatty liver disease (NAFLD) is a multifactorial disorder arising from the interplay between genetic susceptibility and environmental influences. A large body of evidence shows that NAFLD is highly related to obesity and its metabolic consequences such as insulin resistance and dyslipidaemia [1]. In addition to altering metabolic risk, hepatic steatosis is also associated with significant liver disease in some patients. As many as 10-20% of patients with NAFLD develop steatohepatitis [1] and approximately 5% proceed to liver cirrhosis within 10 years of diagnosis [2].The hallmark of hepatic steatosis is the presence of triglycerides (TGs) stored as large lipid droplets in the cytoplasm of hepa
Altered Glucose Homeostasis Is Associated with Increased Serum Apelin Levels in Type 2 Diabetes Mellitus
Maria Gisella Cavallo, Federica Sentinelli, Ilaria Barchetta, Carmine Costantino, Michela Incani, Laura Perra, Danila Capoccia, Stefano Romeo, Efisio Cossu, Frida Leonetti, Luciano Agati, Marco G. Baroni
PLOS ONE , 2012, DOI: 10.1371/journal.pone.0051236
Abstract: Background Apelin is an adipokine that plays a role in the regulation of glucose homeostasis and in obesity. The relationship between apelin serum concentration and dysmetabolic conditions such as type 2 diabetes (T2D) is still controversial. Aims of our study are: 1) determine the circulating levels of apelin in a large cohort of Italian subjects with T2D, T1D and in non-diabetic controls; 2) identify putative metabolic determinants of modified apelin concentrations, in order to search possible mechanism of apelin control; 3) investigate changes in apelin levels in response to sharp modifications of glucose/insulin metabolism in T2D obese subjects before and 3 days after bariatric surgery. Methods We recruited 369 subjects, 119 with T2D, 113 with T1D and 137 non-diabetic controls. All subjects underwent a complete clinical examination, including anthropometric and laboratory measurements. Serum apelin levels were determined by EIA (immunoenzyme assay). Results Patients with T2D had significantly higher serum apelin levels compared to controls (1.23±1.1 ng/mL vs 0.91±0.7 ng/mL, P<0.001) and to T1D subjects (0.73±0.39 ng/mL, P<0.001). Controls and T1D subjects did not differ significantly in apelin levels. Apelin concentrations were directly associated with fasting blood glucose (FBG), body mass index (BMI), basal Disposition Index (DI-0), age, and diagnosis of T2D at bivariate correlation analysis. Multiple regression analysis confirmed that diagnosis of T2D, basal DI-0 and FBG were all determinants of serum apelin levels independently from age and BMI. Bariatric surgery performed in a subgroup of obese diabetic subjects (n = 12) resulted in a significant reduction of apelin concentrations compared to baseline levels (P = 0.01). Conclusions Our study demonstrates that T2D, but not T1D, is associated with increased serum apelin levels compared to non-diabetic subjects. This association is dependent on impaired glucose homeostasis, and disappears after bariatric surgery, providing further evidence regarding the relationship between apelin and the regulation of glucose metabolism.
Association of RXR-Gamma Gene Variants with Familial Combined Hyperlipidemia: Genotype and Haplotype Analysis
Federica Sentinelli,Ilenia Minicocci,Anna Montali,Luisa Nanni,Stefano Romeo,Michela Incani,M. Gisella Cavallo,Andrea Lenzi,Marcello Arca,Marco G. Baroni
Journal of Lipids , 2013, DOI: 10.1155/2013/517943
Abstract: Background. Familial combined hyperlipidemia (FCHL), the most common genetic form of hyperlipdemia, is characterized by a strong familial clustering and by premature coronary heart disease. The FCHL locus has been mapped to human chromosome 1q21-q23. This region includes the retinoid X receptor gamma (RXRG), a nuclear factor member of the RXR superfamily, which plays important roles in lipid homeostasis. Objective. To investigate the possible role of the RXRG gene in the genetic susceptibility to FCHL. Methods. Variations in RXRG gene were searched by direct sequencing, and the identified SNPs were genotyped by PCR-RFLP in 192 FCHL individuals from 74 families and in 119 controls. Results. We identified 5 polymorphisms in the RXRG gene (rs1128977, rs2651860, rs2134095, rs283696, and rs10918169). Genotyping showed that the A-allele of rs283696 SNP was significantly associated with FCHL (corrected , ). Also the alleles of the rs10918169 and of the rs2651860 SNP were more frequent in FCHL subjects compared to those in controls, although not significantly after correction. When the clinical characteristics of the FCHL subjects were stratified by allele carrier status for each SNP, the rs2651860 SNP was significantly associated with increased levels of LDL-cholesterol and of Apo-B in T-allele carriers . Finally, haplotypes analysis with all 5 SNPs confirmed the significant association of RXRG gene with FCHL. Specifically, the haplotype containing all 3 “at-risk” alleles, significantly associated with FCHL (A-allele of rs283696, G-allele of rs10918169, and T-allele of rs2651860), showed an OR (Odds Ratio) of 2.02, . Conversely, the haplotype without all these 3 alleles was associated with a reduced risk for FCHL ( , ). The “at-risk” haplotype CTTAG was also associated with higher LDL-C . In conclusion, variation in the RXRG gene may contribute to the genetic dyslipidemia in FCHL subjects. 1. Background Familial combined hyperlipidemia (FCHL) is the most common atherogenic disorder of lipid metabolism [1, 2], typically characterized by multiple hyperlipemic phenotypes within the same individual as well as in the same family, where elevated very-low-density lipoproteins (VLDL) and/or low-density lipoproteins (LDL) or apolipoprotein B (apoB) can be detected [3–5]. FCHL shows strong genetic susceptibility and an autosomal dominant mode of inheritance with low penetrance [1, 6]. However, most of the underlying genes remain to be elucidated. A previous linkage analysis with markers from ten chromosomal regions that contain lipid-metabolism candidate genes revealed
Unsupervised discovery of morphologically related words based on orthographic and semantic similarity
Marco Baroni,Johannes Matiasek,Harald Trost
Computer Science , 2002,
Abstract: We present an algorithm that takes an unannotated corpus as its input, and returns a ranked list of probable morphologically related pairs as its output. The algorithm tries to discover morphologically related pairs by looking for pairs that are both orthographically and semantically similar, where orthographic similarity is measured in terms of minimum edit distance, and semantic similarity is measured in terms of mutual information. The procedure does not rely on a morpheme concatenation model, nor on distributional properties of word substrings (such as affix frequency). Experiments with German and English input give encouraging results, both in terms of precision (proportion of good pairs found at various cutoff points of the ranked list), and in terms of a qualitative analysis of the types of morphological patterns discovered by the algorithm.
A Roadmap towards Machine Intelligence
Tomas Mikolov,Armand Joulin,Marco Baroni
Computer Science , 2015,
Abstract: The development of intelligent machines is one of the biggest unsolved challenges in computer science. In this paper, we propose some fundamental properties these machines should have, focusing in particular on communication and learning. We discuss a simple environment that could be used to incrementally teach a machine the basics of natural-language-based communication, as a prerequisite to more complex interaction with human users. We also present some conjectures on the sort of algorithms the machine should support in order to profitably learn from the environment.
Improving zero-shot learning by mitigating the hubness problem
Georgiana Dinu,Angeliki Lazaridou,Marco Baroni
Computer Science , 2014,
Abstract: The zero-shot paradigm exploits vector-based word representations extracted from text corpora with unsupervised methods to learn general mapping functions from other feature spaces onto word space, where the words associated to the nearest neighbours of the mapped vectors are used as their linguistic labels. We show that the neighbourhoods of the mapped elements are strongly polluted by hubs, vectors that tend to be near a high proportion of items, pushing their correct labels down the neighbour list. After illustrating the problem empirically, we propose a simple method to correct it by taking the proximity distribution of potential neighbours across many mapped vectors into account. We show that this correction leads to consistent improvements in realistic zero-shot experiments in the cross-lingual, image labeling and image retrieval domains.
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