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- Plunkett, Jevon, et al.
(författare)
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Mother's Genome or Maternally-Inherited Genes Acting in the Fetus Influence Gestational Age in Familial Preterm Birth
- 2009
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Ingår i: Human Heredity. - : S. Karger AG. - 1423-0062 .- 0001-5652. ; 68:3, s. 209-219
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Tidskriftsartikel (refereegranskat)abstract
- Objective: While multiple lines of evidence suggest the importance of genetic contributors to risk of preterm birth, the nature of the genetic component has not been identified. We perform segregation analyses to identify the best fitting genetic model for gestational age, a quantitative proxy for preterm birth. Methods: Because either mother or infant can be considered the proband from a preterm delivery and there is evidence to suggest that genetic factors in either one or both may influence the trait, we performed segregation analysis for gestational age either attributed to the infant (infant's gestational age), or the mother (by averaging the gestational ages at which her children were delivered), using 96 multiplex preterm families. Results: These data lend further support to a genetic component contributing to birth timing since sporadic (i.e. no familial resemblance) and nontransmission (i.e. environmental factors alone contribute to gestational age) models are strongly rejected. Analyses of gestational age attributed to the infant support a model in which mother's genome and/or maternally-inherited genes acting in the fetus are largely responsible for birth timing, with a smaller contribution from the paternally-inherited alleles in the fetal genome. Conclusion: Our findings suggest that genetic influences on birth timing are important and likely complex. Copyright (C) 2009 S. Karger AG, Basel
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- Vinkler, Michal, et al.
(författare)
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Understanding the evolution of immune genes in jawed vertebrates
- 2023
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Ingår i: Journal of Evolutionary Biology. - : John Wiley & Sons. - 1010-061X .- 1420-9101. ; 36:6, s. 847-873
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Forskningsöversikt (refereegranskat)abstract
- Driven by co-evolution with pathogens, host immunity continuously adapts to optimize defence against pathogens within a given environment. Recent advances in genetics, genomics and transcriptomics have enabled a more detailed investigation into how immunogenetic variation shapes the diversity of immune responses seen across domestic and wild animal species. However, a deeper understanding of the diverse molecular mechanisms that shape immunity within and among species is still needed to gain insight into-and generate evolutionary hypotheses on-the ultimate drivers of immunological differences. Here, we discuss current advances in our understanding of molecular evolution underpinning jawed vertebrate immunity. First, we introduce the immunome concept, a framework for characterizing genes involved in immune defence from a comparative perspective, then we outline how immune genes of interest can be identified. Second, we focus on how different selection modes are observed acting across groups of immune genes and propose hypotheses to explain these differences. We then provide an overview of the approaches used so far to study the evolutionary heterogeneity of immune genes on macro and microevolutionary scales. Finally, we discuss some of the current evidence as to how specific pathogens affect the evolution of different groups of immune genes. This review results from the collective discussion on the current key challenges in evolutionary immunology conducted at the ESEB 2021 Online Satellite Symposium: Molecular evolution of the vertebrate immune system, from the lab to natural populations.
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- Gervilla Palomar, Victor, et al.
(författare)
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Dynamics of 3D-island growth on weakly-interacting substrates
- 2019
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Ingår i: Applied Surface Science. - : ELSEVIER SCIENCE BV. - 0169-4332 .- 1873-5584. ; 488, s. 383-390
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Tidskriftsartikel (refereegranskat)abstract
- The growth dynamics of faceted three-dimensional (3D) Ag islands on weakly-interacting substrates are investigated-using kinetic Monte Carlo (kMC) simulations and analytical modelling-with the objective of determining the critical top-layer radius R-c required to nucleate a new island layer as a function of temperature T, at a constant deposition rate. kMC shows that R-c decreases from 17.3 to 6.0 angstrom as T is increased at 25 K intervals, from 300 to 500 K. That is, a higher T promotes top-layer nucleation resulting in an increase in island height-to-radius aspect ratios. This explains experimental observations for film growth on weakly-interacting substrates, which are not consistent with classical homoepitaxial growth theory. In the latter case, higher temperatures yield lower top-layer nucleation rates and lead to a decrease in island aspect ratios. The kMC simulation results are corroborated by an analytical mean field model, in which R-c is estimated by calculating the steady-state adatom density on the island side facets and top layer as a function of T. The overall findings of this study constitute a first step toward developing rigorous theoretical models, which can be used to guide synthesis of metal nanostructures, and layers with controlled shape and morphology, on technologically important substrates, including two-dimensional crystals, for nanoelectronic and catalytic applications.
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- Lü, Bo, et al.
(författare)
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Formation and morphological evolution of self-similar 3D nanostructures on weakly interacting substrates
- 2018
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Ingår i: Physical Review Materials. - : AMER PHYSICAL SOC. - 2475-9953. ; 2:6
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Tidskriftsartikel (refereegranskat)abstract
- Vapor condensation on weakly interacting substrates leads to the formation of three-dimensional (3D) nanoscale islands (i.e., nanostructures). While it is widely accepted that this process is driven by minimization of the total film/substrate surface and interface energy, current film-growth theory cannot fully explain the atomic-scale mechanisms and pathways by which 3D island formation and morphological evolution occurs. Here, we use kinetic Monte Carlo simulations to describe the dynamic evolution of single-island shapes during deposition of Ag on weakly interacting substrates. The results show that 3D island shapes evolve in a self-similar manner, exhibiting a constant height-to-radius aspect ratio, which is a function of the growth temperature. Furthermore, our results reveal the following chain of atomic-scale events that lead to compact 3D island shapes: 3D nuclei are first formed due to facile adatom ascent at single-layer island steps, followed by the development of sidewall facets bounding the islands, which in turn facilitates upward diffusion from the base to the top of the islands. The limiting atomic process which determines the island height, for a given number of deposited atoms, is the temperature-dependent rate at which adatoms cross from sidewall facets to the island top. The overall findings of this study provide insights into the directed growth of metal nanostructures with controlled shapes on weakly interacting substrates, including two-dimensional crystals, for use in catalytic and nanoelectronic applications.
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- Moreno-Alcazar, A, et al.
(författare)
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Brain structural and functional substrates of ADGRL3 (latrophilin 3) haplotype in attention-deficit/hyperactivity disorder
- 2021
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Ingår i: Scientific reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 11:1, s. 2373-
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Tidskriftsartikel (refereegranskat)abstract
- Previous studies have shown that the gene encoding the adhesion G protein-coupled receptor L3 (ADGRL3; formerly latrophilin 3, LPHN3) is associated with Attention-Deficit/Hyperactivity Disorder (ADHD). Conversely, no studies have investigated the anatomical or functional brain substrates of ADGRL3 risk variants. We examined here whether individuals with different ADGRL3 haplotypes, including both patients with ADHD and healthy controls, showed differences in brain anatomy and function. We recruited and genotyped adult patients with combined type ADHD and healthy controls to achieve a sample balanced for age, sex, premorbid IQ, and three ADGRL3 haplotype groups (risk, protective, and others). The final sample (n = 128) underwent structural and functional brain imaging (voxel-based morphometry and n-back working memory fMRI). We analyzed the brain structural and functional effects of ADHD, haplotypes, and their interaction, covarying for age, sex, and medication. Individuals (patients or controls) with the protective haplotype showed strong, widespread hypo-activation in the frontal cortex extending to inferior temporal and fusiform gyri. Individuals (patients or controls) with the risk haplotype also showed hypo-activation, more focused in the right temporal cortex. Patients showed parietal hyper-activation. Disorder-haplotype interactions, as well as structural findings, were not statistically significant. To sum up, both protective and risk ADGRL3 haplotypes are associated with substantial brain hypo-activation during working memory tasks, stressing this gene’s relevance in cognitive brain function. Conversely, we did not find brain effects of the interactions between adult ADHD and ADGRL3 haplotypes.
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- Salavert, J, et al.
(författare)
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Functional Imaging Changes in the Medial Prefrontal Cortex in Adult ADHD
- 2018
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Ingår i: Journal of attention disorders. - : SAGE Publications. - 1557-1246 .- 1087-0547. ; 22:7, s. 679-693
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Tidskriftsartikel (refereegranskat)abstract
- Objective: Functional imaging studies have found reduced frontal activity, mainly in dorso/ventro-lateral regions and reduced task-related de-activation of the default mode network in childhood ADHD. Adult studies are fewer and inconclusive. We aimed to investigate the potential neural bases of executive function in ADHD adults, examining brain activity during N-back task performance, and to explore the potential corrective effects of long-term methylphenidate treatment. Method: We recruited a large adult ADHD-combined sample and a matched control group and obtained functional magnetic resonance imaging (fMRI) images during task. ADHD participants were subdivided in a group under long-term treatment with methylphenidate (washed out for the scan) and a treatment-naive group. Results: ADHD participants showed deficient de-activation of the medial prefrontal cortex during 2-back task, implying default mode network dysfunction. We found no relationship between blunted de-activation and treatment history. Conclusion: As de-activation failure in the medial frontal cortex is linked to lapses of attention, findings suggest a potential link to ADHD symptomatology.
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