Search results for "Variants"

Copy Number Variants and microRNAs in Autism Spectrum Disorders: a whole-genome analysis

2014

In recent years, there has been an increased interest by the scientific community on Autism Spectrum Disorders (ASDs), neurodevelopmental disorders of childhood with an incidence of about 1/160 children [1]. Different studies have indicated a strong genetic basis for autism susceptibility, also supported by the presence of autistic features in several monogenic disorders (e.g.,Fragile X syndrome, Tuberous sclerosis). Since 2007 Copy Number Variants (CNVs) were recognized as important genetic factors in ASD [2]. Studies performed so far have highlighted the pathogenic role of CNVs in terms of dosage change for protein-coding genes and few works have suggested the potential involvement of miR…

ALLELIC VARIANTS OF CYP2E1 GENE IN HEPATOCARCINOMA PATIENTS AND IN HEPATIC TUMOR CELL LINES

2011

Background and Aims: Hepatic enzyme CYP2E1 is involved in the metabolism of a number of exogenous and endogenous substances (i.e. ethanol, drugs and chemical carcinogens). Being polymorphic, CYP2E1 gene can give different xeno-metabolic capabilities in a population and it is well known that inadequate or no enzymatic deactivation of xenobiotics could induce an increased susceptibility to disease and cancer. In particular, one of the 5 -flanking region polymorphisms, able to differentiate CYP2E1 gene transcriptional activity, is caused by the appearance/disappearance of RsaI and PstI restriction sites, which generates two different alleles, namely *C1(Rsa+/Pst−) and *C2(Rsa−/Pst+) respective…

Torre del Greco, villa marittima in contrada Sora: 65. Statua di Satiro

2019

Si presenta il più noto reperto scultoreso dalla Villa di Contrada Sora a Torre del Greco, sondata per cunicoli dall'allora principe ereditario della dinastia borbonica, al cui seguito il reperto giunse a Palermo all'epoca della fuga della famiglia reale per l'avanzata francese. Il Satiro, una delle migliori repliche del celeberrimo Satiro Versante di Prassitele, consente di individuare alcune specificità della rielaborazione copistica rispondenti al gusto del facoltoso committente della costa vesuviana.

ALGEBRE SIMMETRICHE DI ALCUNE CLASSI DI IDEALI MONOMIALI

The purpose of this thesis is the study of the symmetric algebra 〖Sym〗_S (L) of an interesting class of monomial ideals: the ideals L ⊂S=K[x1,...,xn,y1,...,ym] of mixed products in two sets of variables. Recently, this class is been used in order to test some algebraic conjecture, including the conjecture of Eisenbud -Goto, on the symmetric algebra 〖Sym〗_S (L) .Since such conjecture involves fundamental invariants of Sym (L), such as the Krull dimension, the multiplicity and regularity of Castelnuovo-Mumford, it was necessary to calculate these invariants or their bounds. This problem is difficult, but if L is generated by a s-sequence, you can arrive at a concrete result. In the work Mixed…

FUNCTIONAL CHARACTERIZATION OF NOVEL AMINO ACID VARIANTS IN APOB IN FAMILIAL HYPOBETALIPOPROTEINEMIA

2013

Introduction. Familial Hypobetalipoproteinemia (FHBL) is a codominant disorder characterized by reduced levels of LDL and apolipoprotein B (apoB) in plasma. In approximately 50% of FHBL cases is due to mutations in APOB gene resulting in truncated apoBs of various size. Only a few missense mutations have been reported so far as the cause of FHBL. In vitro studies have shown that these mutations induce retention of the mutant apoB in the endoplasmic reticulum and impair the secretion of apoB-containing lipoproteins. We identi ed two novel amino acid variants (Thr26-27del and Tyr102Cys) located in the N-terminal 1000 amino acids of mature apoB in two hypocholesterolemic blood donors. Methods.…

Copy number variations in the etiology of autism spectrum disorders

2013

Autism Spectrum Disorders (ASDs) are a heterogeneous group of neurodevelopmental disorders, characterized by qualitative impairment in social interaction and communication and restricted, repetitive and stereotyped patterns of behavior, interests and activities. They have a multifactorial etiology, but today different studies are showing the central role of genetics. Different genetic alterations were detected: chromosomal abnormalities, mutations, trinucleotide repeats and copy number variations (CNVs). Several studies identified many CNVs associated with ASDs and possible candidate genes, whose loss or gain could have a key role in the etiopathogenesis of these disorders. In particular, t…

Type and counter-type from specific chromosomal regions

2013

Several studies have shown the importance of segmental deletions/duplications in the field of chromosome pathologies. Non allelic homologous recombination, NAHR, between chromosomes or sister chromatids, mediated by segmental duplications, is the foundation of frequent mechanisms for structural chromosome mutations such as micro-deletions, micro-duplications, translocations, inversions, and marker chromosomes. We analyzed three distinct genomic regions (22q11.2, 17p11.2, 16p11.2) and we discussed how the same chromosome region can be affected by deletion or by reciprocal duplication, respectively responsible for a syndrome or for a reciprocal counter-syndrome, with different phenotypic mani…

Genetic contribution in sporadic thoracic aortic aneurysm? Emerging evidence of genetic variants related to TLR-4-mediated signaling pathway as risk …

2015

Abstract Sporadic thoracic aortic aneurysms (TAA) and dissections are one of the major causes of morbidity and mortality worldwide, especially in those older than 65 years. The presentation of TAA is varied and often silent. Thus, sporadic TAA detection is often fortuitous, with identification occurring during a routine physical examination or during an unrelated medical evaluation. Once suspected, confirmation by imaging clinical approaches is needed to allow the choose of the unique treatments for TAA, namely the surgery procedures, including elective surgery or endovascular repair before the onset of catastrophic and fatal complications, such as dissection or rupture. At present, there a…

Mohr-cyclides, a 3D representation of geological tensors: The examples of stress and flow

2008

Mohr-circles are commonly used to represent second-rank tensors in two dimensions. In geology, this mainly applies to stress, flow, strain and deformation. Three-dimensional second rank tensors have been represented by sets of three Mohr-circles, mainly in the application of stress. This paper demonstrates that three-dimensional second rank tensors can in fact be represented in a three-dimensional reference frame by Mohr surfaces, which are members of the cyclide family. Such Mohr-cyclides can be used to represent any second rank tensor and are exemplified with the stress and flow tensors.

Skyrmion formation due to unconventional magnetic modes in anisotropic multiband superconductors

2018

Multiband superconductors have a sufficient number of degrees of freedom to allow topological excitations characterized by Skyrmionic topological invariants. In the most common, clean s-wave multiband, systems the interband magnetic coupling favours composite vortex solutions, without a Skyrmionic topological charge. It was discussed recently that certain kinds of anisotropies lead to hybridisation of the interband phase difference (Leggett) mode with magnetic modes, dramatically changing the hydromagnetostatics of the system. Here we report this effect for a range of parameters that substantially alter the nature of the topological excitations, leading to solutions characterized by a nontr…