Search results for "Variant"
showing 10 items of 1267 documents
New Insights Into Mitochondrial DNA Reconstruction and Variant Detection in Ancient Samples
2021
Ancient DNA (aDNA) studies are frequently focused on the analysis of the mitochondrial DNA (mtDNA), which is much more abundant than the nuclear genome, hence can be better retrieved from ancient remains. However, postmortem DNA damage and contamination make the data analysis difficult because of DNA fragmentation and nucleotide alterations. In this regard, the assessment of the heteroplasmic fraction in ancient mtDNA has always been considered an unachievable goal due to the complexity in distinguishing true endogenous variants from artifacts. We implemented and applied a computational pipeline for mtDNA analysis to a dataset of 30 ancient human samples from an Iron Age necropolis in Poliz…
Jaunu ģenētisko variantu funkcionāla raksturošana izmantojot izolētas pacientu šūnas
2022
Mutācijas gan mitohondriālajā DNS, gan kodola DNS var izraisīt traucējumus mitohondriju oksidatīvās fosforilēšanas sistēmā, kas var būt cēlonis smagām mitohondriālajām slimībām. Mitohondriālo slimību diagnostika ir komplicēta, un tai izmanto lielu laboratorijas metožu klāstu. Darba “JAUNU ĢENĒTISKO VARIANTU FUNKCIONĀLA RAKSTUROŠANA IZMANTOJOT IZOLĒTAS PACIENTU ŠŪNAS” mērķis ir raksturot jaunus ģenētiskos variantus reto ģenētisko slimību pacientiem, izmantojot molekulārās un bioķīmiskās metodes, kā arī perifēros leikocītus un kultivētus fibroblastus. Tika veikta DNS variantu validācija ar Sangera sekvencēšanu, šūnu līniju izveidošana un kultivēšana, mitohondriju izdalīšana no šūnu kultūrām u…
Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities
2021
International audience; The collapsin response mediator protein (CRMP) family proteins are intracellular mediators of neurotrophic factors regulating neurite structure/spine formation and are essential for dendrite patterning and directional axonal pathfinding during brain developmental processes. Among this family, CRMP5/DPYSL5 plays a significant role in neuronal migration, axonal guidance, dendrite outgrowth, and synapse formation by interacting with microtubules. Here, we report the identification of missense mutations in DPYSL5 in nine individuals with brain malformations, including corpus callosum agenesis and/or posterior fossa abnormalities, associated with variable degrees of intel…
Functional variants of 5S rRNA in the ribosomes of common sea urchin Paracentrotus lividus
2012
Abstract We have previously reported a molecular and cytogenetic characterization of three different 5S rDNA clusters in the sea urchin Paracentrotus lividus ; this study, performed at DNA level only, lends itself as starting point to verify that these clusters could contain transcribed genes, then, to demonstrate the presence of heterogeneity at functional RNA level, also. In the present work we report in P. lividus ribosomes the existence of several transcribed variants of the 5S rRNA and we associate all transcribed variants to the cluster to which belong. Our finding is the first demonstration of the presence of high heterogeneity in functional 5S rRNA molecules in animal ribosomes, a f…
Redundant Picard–Fuchs System for Abelian Integrals
2001
We derive an explicit system of Picard-Fuchs differential equations satisfied by Abelian integrals of monomial forms and majorize its coefficients. A peculiar feature of this construction is that the system admitting such explicit majorants, appears only in dimension approximately two times greater than the standard Picard-Fuchs system. The result is used to obtain a partial solution to the tangential Hilbert 16th problem. We establish upper bounds for the number of zeros of arbitrary Abelian integrals on a positive distance from the critical locus. Under the additional assumption that the critical values of the Hamiltonian are distant from each other (after a proper normalization), we were…
The Relationship Between Polygenic Risk Scores and Cognition in Schizophrenia
2020
Abstract Background Cognitive impairment is a clinically important feature of schizophrenia. Polygenic risk score (PRS) methods have demonstrated genetic overlap between schizophrenia, bipolar disorder (BD), major depressive disorder (MDD), educational attainment (EA), and IQ, but very few studies have examined associations between these PRS and cognitive phenotypes within schizophrenia cases. Methods We combined genetic and cognitive data in 3034 schizophrenia cases from 11 samples using the general intelligence factor g as the primary measure of cognition. We used linear regression to examine the association between cognition and PRS for EA, IQ, schizophrenia, BD, and MDD. The results wer…
Multiplicity of ground states for the scalar curvature equation
2019
We study existence and multiplicity of radial ground states for the scalar curvature equation $$\begin{aligned} \Delta u+ K(|x|)\, u^{\frac{n+2}{n-2}}=0, \quad x\in {{\mathbb {R}}}^n, \quad n>2, \end{aligned}$$when the function $$K:{{\mathbb {R}}}^+\rightarrow {{\mathbb {R}}}^+$$ is bounded above and below by two positive constants, i.e. $$0 0$$, it is decreasing in (0, 1) and increasing in $$(1,+\infty )$$. Chen and Lin (Commun Partial Differ Equ 24:785–799, 1999) had shown the existence of a large number of bubble tower solutions if K is a sufficiently small perturbation of a positive constant. Our main purpose is to improve such a result by considering a non-perturbative situation: we ar…
Multiplicity of Radial Ground States for the Scalar Curvature Equation Without Reciprocal Symmetry
2022
AbstractWe study existence and multiplicity of positive ground states for the scalar curvature equation $$\begin{aligned} \varDelta u+ K(|x|)\, u^{\frac{n+2}{n-2}}=0, \quad x\in {{\mathbb {R}}}^n\,, \quad n>2, \end{aligned}$$ Δ u + K ( | x | ) u n + 2 n - 2 = 0 , x ∈ R n , n > 2 , when the function $$K:{{\mathbb {R}}}^+\rightarrow {{\mathbb {R}}}^+$$ K : R + → R + is bounded above and below by two positive constants, i.e. $$0<\underline{K} \le K(r) \le \overline{K}$$ 0 < K ̲ ≤ K ( r ) ≤ K ¯ for every $$r > 0$$ r > 0 , it is decreasing in $$(0,{{{\mathcal {R}}}})$$ ( 0 , R ) and increasing in $$({{{\mathcal {R}}}},+\infty )$$ ( R , + ∞ ) for a certain $${{{\mathcal {R}}}}&g…
Multispectral constancy for illuminant invariant representation of multispectral images
2018
A conventional color imaging system provides high resolution spatial information and low resolution spectral data. In contrast, a multispectral imaging system is able to provide both the spectral and spatial information of a scene in high resolution. A multispectral imaging system is complex and it is not easy to use it as a hand held device for acquisition of data in uncontrolled conditions. The use of multispectral imaging for computer vision applications has started recently but is not very efficient due to these limitations. Therefore, most of the computer vision systems still rely on traditional color imaging and the potential of multispectral imaging for these applications has yet to …
Studying students ́satisfaction at music schools in the Valencian Region
2017
[EN] Satisfaction is a key construct but complex to be measured. Within the cultural context and from the discipline of marketing, satisfaction consists of assessing some experiences without considering consumers ́ expectations. From this approach, this paper deals with an empirical research aiming at analyzing satisfaction among students of music conservatoires and schools. The research, qualitative and quantitative in nature, allowed to know users ́ assessment of different variables: studies, teaching staff, information technologies, premises and administration procedures. To do so, a self-administered survey was conducted using a structured questionnaire. Univariate and multivariate anal…