Search results for "mutation."
showing 10 items of 2808 documents
Influence of microsomal triglyceride transfer protein promoter polymorphism -493 GT on fasting plasma triglyceride values and interaction with treatm…
2005
Familial hypercholesterolaemia (FH) is an autosomal dominant disease characterized by elevated levels of low-density lipoprotein-cholesterol (LDL-C). Phenotypic expression is highly variable, being influenced by diet, age, gender, body mass index, apolipoprotein E genotype and type of LDL-receptor gene mutation. Microsomal triglyceride (TG) transfer protein (MTP) is a protein involved in lipid metabolism. Polymorphism MTP -493 GT has been shown to modulate lipid levels in several populations. To analyse the effect of this polymorphism in the lipid phenotype expression of FH and treatment response, we studied a sample of 222 Spanish FH patients, of whom 147 were studied before and after trea…
Haptoglobin interacts with apolipoprotein E and beta-amyloid and influences their crosstalk.
2014
Beta-amyloid accumulation in brain is a driving force for Alzheimer's disease pathogenesis. Apolipoprotein E (ApoE) represents a critical player in beta-amyloid homeostasis, but its role in disease progression is controversial. We previously reported that the acute-phase protein haptoglobin binds ApoE and impairs its function in cholesterol homeostasis. The major aims of this study were to characterize the binding of haptoglobin to beta-amyloid, and to evaluate whether haptoglobin affects ApoE binding to beta-amyloid. Haptoglobin is here reported to form a complex with beta-amyloid as shown by immunoblotting experiments with purified proteins, or by its immunoprecipitation in brain tissues …
Genetic polymorphisms affecting the phenotypic expression in familial hypercholesterolemia
2004
The clinical expression of heterozygous familial hypercholesterolemia (FH) is highly variable even in patients carrying the same LDL receptor (LDL-R) gene mutation. This variability might be due to environmental factors as well as to modifying genes affecting lipoprotein metabolism. We investigated Apo E (2, 3, 4), MTP (-493G/T), Apo B (-516C/T), Apo A-V (-1131T/C), HL (-514C/T and -250G/A), FABP-2 (A54T), LPL (D9N, N291S, S447X) and ABCA1 (R219K) polymorphisms in 221 unrelated FH index cases and 349 FH relatives with defined LDL-R gene mutations. We found a significant and independent effect of the following polymorphisms on: (i) plasma LDL-C (Apo E, MTP and Apo B); (ii) plasma HDL-C (HL, …
Two Italian kindreds carrying the Arg136--Ser mutation of the Apo E gene: development of premature and severe atherosclerosis in the presence of epsi…
2003
Abstract Background and Aims: Type III hyperlipoproteinemia, or dysbetalipoproteinemia, is commonly associated with apolipoprotein E2 homozygosity (Cy Background and Aims: 12, Cy Background and Aims: 58). Apo E2-Christchurch (Arg136→Ser), a rare mutation of the Apo E gene, located in the receptor-binding domain of the protein, has been found to be associated in the vast majority of cases of dysbetalipoproteinemia. Methods and Results: This is the first report of two Italian kindreds carrying the Arg136→Ser mutation. One family is a four-generation kindred from Genoa (Liguria, Italy) with a high rate of mortality due to coronary artery disease: the proband was a 51-year-old woman with previo…
Binary Hamming codes and Boolean designs
2021
AbstractIn this paper we consider a finite-dimensional vector space $${\mathcal {P}}$$ P over the Galois field $${\text {GF}}(2),$$ GF ( 2 ) , and the family $${\mathcal {B}}_k$$ B k (respectively, $${\mathcal {B}}_k^*$$ B k ∗ ) of all the k-sets of elements of $$\mathcal {P}$$ P (respectively, of $${\mathcal {P}}^*= {\mathcal {P}} \setminus \{0\}$$ P ∗ = P \ { 0 } ) summing up to zero. We compute the parameters of the 3-design $$({\mathcal {P}},{\mathcal {B}}_k)$$ ( P , B k ) for any (necessarily even) k, and of the 2-design $$({\mathcal {P}}^{*},{\mathcal {B}}_k^{*})$$ ( P ∗ , B k ∗ ) for any k. Also, we find a new proof for the weight distribution of the binary Hamming code. Moreover, we…
Identification of multiplicatively acting modulatory mutational signatures in cancer
2022
Abstract Background A deep understanding of carcinogenesis at the DNA level underpins many advances in cancer prevention and treatment. Mutational signatures provide a breakthrough conceptualisation, as well as an analysis framework, that can be used to build such understanding. They capture somatic mutation patterns and at best identify their causes. Most studies in this context have focused on an inherently additive analysis, e.g. by non-negative matrix factorization, where the mutations within a cancer sample are explained by a linear combination of independent mutational signatures. However, other recent studies show that the mutational signatures exhibit non-additive interactions. Resu…
Comparison of discretization strategies for the model-free information-theoretic assessment of short-term physiological interactions
2023
This work presents a comparison between different approaches for the model-free estimation of information-theoretic measures of the dynamic coupling between short realizations of random processes. The measures considered are the mutual information rate (MIR) between two random processes [Formula: see text] and [Formula: see text] and the terms of its decomposition evidencing either the individual entropy rates of [Formula: see text] and [Formula: see text] and their joint entropy rate, or the transfer entropies from [Formula: see text] to [Formula: see text] and from [Formula: see text] to [Formula: see text] and the instantaneous information shared by [Formula: see text] and [Formula: see…
A Hardware and Secure Pseudorandom Generator for Constrained Devices
2018
Hardware security for an Internet of Things or cyber physical system drives the need for ubiquitous cryptography to different sensing infrastructures in these fields. In particular, generating strong cryptographic keys on such resource-constrained device depends on a lightweight and cryptographically secure random number generator. In this research work, we have introduced a new hardware chaos-based pseudorandom number generator, which is mainly based on the deletion of an Hamilton cycle within the $N$ -cube (or on the vectorial negation), plus one single permutation. We have rigorously proven the chaotic behavior and cryptographically secure property of the whole proposal: the mid-term eff…
Experimental virus evolution reveals a role of plant microtubule dynamics and TORTIFOLIA1/SPIRAL2 in RNA trafficking.
2014
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Early induction of genetic instability and apoptosis by arsenic in cultured Chinese hamster cells
2002
In order to assess at what time from the beginning of exposure inorganic arsenic can give rise to genetic instability and trigger apoptosis, V79-C13 Chinese hamster cells were treated with 10 microM sodium arsenite for 24 h. Under these conditions, cell survival was >70% and cells showed neither an increase in chromosome aberration frequency nor a delay in cell cycle progression. Investigations, which were carried out every 6 h during the treatment, revealed an early appearance of genetically unstable cells, namely micronucleated, multinucleated and mononucleated 'giant' cells, as well as apoptotic cells. Indirect immunostaining using anti-beta-tubulin antibody showed severe alterations in …