Search results for "Variant"

Analysis of Invariant Chain Processing in 3 Day Cultured Rat Langerhans Cells

1995

MHC class II molecules, critical peptide binding elements involved in the presentation of exogenous antigen to T helper cells, are expressed constitutively by Langerhans cells (LC) within their epidermal microenvironment. Several studies in mouse and man demonstrated, that short term in vitro culture of LC entails remarkable functional and penotypic alterations, including a profound increase of class II elements exposed at the LC’s surface1. Biosynthetic analysis revealed a downregulation of class II synthesis during the culture period2,3. In recent work on rat LC we described the uncoupling of the coordinately regulated biosynthesis of class II and invariant chain proteins in the course of…

Cilvēka anatomiju apzīmējošā leksika Homēra eposā Īliada

2015

Bakalaura darba Cilvēka anatomiju apzīmējošā leksika Homēra eposā „Īliada” mērķis ir eposa ietvaros izpētīt cilvēka anatomiju apzīmējošo vārdu krājumu un izvērtēt tā nozīmi kontekstu dažādībā. Tiek izvirzīti uzdevumi apzināt pieejamo zinātnisko literatūru, analizēt Homēra eposa oriģināltekstu un tulkojumus, pievēršot uzmanību darba mērķim atbilstošajai leksikai. Pētot cilvēka anatomiju apzīmējošo leksēmu nozīmi un veidojot to klasifikāciju, tiek izmantotas aprakstošā, statistiskā, kontekstuālā un salīdzināšanas metodes. Secināts, ka Homēra Īliada ir leksiski daudznozīmīgs cilvēka anatomijas izziņas avots. Formulēts atzinums, ka iespējams izdalīt loģiskas leksikas apakšsistēmas ar vienojošu …

Polygenic association between attention-deficit/hyperactivity disorder liability and cognitive impairments.

2022

AbstractBackgroundA recent genome-wide association study (GWAS) identified 12 independent loci significantly associated with attention-deficit/hyperactivity disorder (ADHD). Polygenic risk scores (PRS), derived from the GWAS, can be used to assess genetic overlap between ADHD and other traits. Using ADHD samples from several international sites, we derived PRS for ADHD from the recent GWAS to test whether genetic variants that contribute to ADHD also influence two cognitive functions that show strong association with ADHD: attention regulation and response inhibition, captured by reaction time variability (RTV) and commission errors (CE).MethodsThe discovery GWAS included 19 099 ADHD cases …

Per una nuova edizione del carteggio Verga-Capuana

Il lavoro di tesi costituisce uno studio preparatorio in vista di una nuova edizione commentata del carteggio tra Giovanni Verga e Luigi Capuana. L'elaborato si articola in sette capitoli. Nei primi tre si tenta di mettere a fuoco i temi principalmente dibattuti nel carteggio: la moralità dell’arte, la lontananza dalla Sicilia, il rapporto con la critica e il pubblico. Il quarto capitolo si propone di contribuire alla ricostruzione della biblioteca reale e fruita di Giovanni Verga. Nel quinto capitolo si illustrano i procedimenti dell’officina degli scrittori in relazione alla composizione di alcune opere. La seconda parte è costituita dall’edizione degli autografi relativi alla corrisponde…

Shift-Invariant Canonical Polyadic Decomposition of Complex-Valued Multi-Subject fMRI Data with a Phase Sparsity Constraint

2020

Canonical polyadic decomposition (CPD) of multi-subject complex-valued fMRI data can be used to provide spatially and temporally shared components among groups with both magnitude and phase information. However, the CPD model is not well formulated due to the large subject variability in the spatial and temporal modalities, as well as the high noise level in complex-valued fMRI data. Considering that the shift-invariant CPD can model temporal variability across subjects, we propose to further impose a phase sparsity constraint on the shared spatial maps to denoise the complex-valued components and to model the inter-subject spatial variability as well. More precisely, subject-specific time …

Functional Assessment of Variants in the TSC1 and TSC2 Genes Identified in Individuals with Tuberous Sclerosis Complex

2011

The effects of missense changes and small in-frame deletions and insertions on protein function are not easy to predict, and the identification of such variants in individuals at risk of a genetic disease can complicate genetic counselling. One option is to perform functional tests to assess whether the variants affect protein function. We have used this strategy to characterize variants identified in the TSC1 and TSC2 genes in individuals with, or suspected of having, Tuberous Sclerosis Complex (TSC). Here we present an overview of our functional studies on 45 TSC1 and 107 TSC2 variants. Using a standardized protocol we classified 16 TSC1 variants and 70 TSC2 variants as pathogenic. In add…

Belief, acceptance and knowledge

2009

According to Contextualism about knowledge, it is possible that a subject, with the same amount of evidence and the same degree of con-viction, knows that P in a context and not in another. In this paper, I favor the invarationist conception of knowledge by drawing a distinction between belief and acceptance."Know", I defend, does not change in meaning across contexts, althoughI acknowledge it is not correct to self ascribe knowledge when one does not accept that P. Según la posición contextualista puede ocurrir que con las mis-mas evidencias y el mismo grado de convicción, un sujeto sepa que P en un contexto y no en otro. Mediante la distinción entre aceptación y creencia, se combate tal p…

Predictive control of convex polyhedron LPV systems with Markov jumping parameters

2012

The problem of receding horizon predictive control of stochastic linear parameter varying systems is discussed. First, constant coefficient matrices are obtained at each vertex in the interior of linear parameter varying system, and then, by considering semi-definite programming constraints, weight coefficients between each vertex are calculated, and the equal coefficients matrices for the time variable system are obtained. Second, in the given receding horizon, for each mode sequence of the stochastic convex polyhedron linear parameter varying systems, the optimal control input sequences are designed in order to make the states into a terminal invariant set. Outside of the receding horizon…

Expression of IAPs (Inhibitory of Apoptosis Proteins) and of their alternative splice variants in hepatocellular carcinoma tissues and cells

2004

IAPs (inhibitors of apoptosis proteins) might have a major role in the apoptotic resistance that marks many cancers. The studies on IAPs in human HCC have focused on survivin or XIAP, indicating that their new or increased expression in this tumor is associated with a more unfavorable prognosis. The present results corroborate these findings, emphasizing the role that the coordinated expression of different IAPs and alternative splice variants might play in the adverse biology of hepatocellular carcinoma.

12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature.

2022

Interstitial deletions of the long arm of chromosome 12 are rare, with a dozen patients carrying a deletion in 12q21 being reported. Recently a critical region (CR) has been delimited and could be responsible for the more commonly described clinical features, such as developmental delay/intellectual disability, congenital genitourinary and brain malformations. Other, less frequent, clinical signs do not seem to be correlated to the proposed CR. We present seven new patients harboring non-recurrent deletions ranging from 1 to 18.5 Mb differentially scattered across 12q21. Alongside more common clinical signs, some patients have rarer features such as heart defects, hearing loss, hypotonia an…