| 61. |
- Pattaro, Cristian, et al.
(författare)
-
Genome-Wide Association and Functional Follow-Up Reveals New Loci for Kidney Function
- 2012
-
Ingår i: PLoS Genetics. - : Public Library of Science (PLoS). - 1553-7390 .- 1553-7404. ; 8:3, s. e1002584-
-
Tidskriftsartikel (refereegranskat)abstract
- Chronic kidney disease (CKD) is an important public health problem with a genetic component. We performed genomewide association studies in up to 130,600 European ancestry participants overall, and stratified for key CKD risk factors. We uncovered 6 new loci in association with estimated glomerular filtration rate (eGFR), the primary clinical measure of CKD, in or near MPPED2, DDX1, SLC47A1, CDK12, CASP9, and INO80. Morpholino knockdown of mpped2 and casp9 in zebrafish embryos revealed podocyte and tubular abnormalities with altered dextran clearance, suggesting a role for these genes in renal function. By providing new insights into genes that regulate renal function, these results could further our understanding of the pathogenesis of CKD.
|
|
| 62. |
|
|
| 63. |
|
|
| 64. |
- Revelli, A., et al.
(författare)
-
Spin-orbit entangled j=1/2 moments in Ba(2)CWeIrO(6) : A frustrated fcc quantum magnet
- 2019
-
Ingår i: Physical Review B. - : American Physical Society. - 2469-9950 .- 2469-9969. ; 100:8
-
Tidskriftsartikel (refereegranskat)abstract
- We establish the double perovskite Ba2CeIrO6 as a nearly ideal model system for j = 1/2 moments, with resonant inelastic x-ray scattering indicating that the ideal j = 1/2 state contributes by more than 99% to the ground-state wave function. The local j = 1/2 moments form an fcc lattice and are found to order antiferromagnetically at T-N = 14 K, more than an order of magnitude below the Curie-Weiss temperature. Model calculations show that the geometric frustration of the fcc Heisenberg antiferromagnet is further enhanced by a next-nearest neighbor exchange, and a significant size of the latter is indicated by ab initio theory. Our theoretical analysis shows that magnetic order is driven by a bond-directional Kitaev exchange and by local distortions via a strong magnetoelastic effect. Both, the suppression of frustration by Kitaev exchange and the strong magnetoelastic effect are typically not expected for j = 1/2 compounds making Ba2CeIrO6 a riveting example for the rich physics of spin-orbit entangled Mott insulators.
|
|
| 65. |
- Rodriguez-Fernandez, B., et al.
(författare)
-
Genetically predicted telomere length and Alzheimer's disease endophenotypes: a Mendelian randomization study
- 2022
-
Ingår i: Alzheimers Research & Therapy. - : Springer Science and Business Media LLC. - 1758-9193. ; 14:1
-
Tidskriftsartikel (refereegranskat)abstract
- Telomere length (TL) is associated with biological aging, consequently influencing the risk of age-related diseases such as Alzheimer's disease (AD). We aimed to evaluate the potential causal role of TL in AD endophenotypes (i.e., cognitive performance, N = 2233; brain age and AD-related signatures, N = 1134; and cerebrospinal fluid biomarkers (CSF) of AD and neurodegeneration, N = 304) through a Mendelian randomization (MR) analysis. Our analysis was conducted in the context of the ALFA (ALzheimer and FAmilies) study, a population of cognitively healthy individuals at risk of AD. A total of 20 single nucleotide polymorphisms associated with TL were used to determine the effect of TL on AD endophenotypes. Analyses were adjusted by age, sex, and years of education. Stratified analyses by APOE-epsilon 4 status and polygenic risk score of AD were conducted. MR analysis revealed significant associations between genetically predicted longer TL and lower levels of CSF A beta and higher levels of CSF NfL only in APOE-epsilon 4 non-carriers. Moreover, inheriting longer TL was associated with greater cortical thickness in age and AD-related brain signatures and lower levels of CSF p-tau among individuals at a high genetic predisposition to AD. Further observational analyses are warranted to better understand these associations.
|
|
| 66. |
|
|
| 67. |
- van der Harst, Pim, et al.
(författare)
-
Seventy-five genetic loci influencing the human red blood cell
- 2012
-
Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 492:7429, s. 369-375
-
Tidskriftsartikel (refereegranskat)abstract
- Anaemia is a chief determinant of global ill health, contributing to cognitive impairment, growth retardation and impaired physical capacity. To understand further the genetic factors influencing red blood cells, we carried out a genome-wide association study of haemoglobin concentration and related parameters in up to 135,367 individuals. Here we identify 75 independent genetic loci associated with one or more red blood cell phenotypes at P < 10(-8), which together explain 4-9% of the phenotypic variance per trait. Using expression quantitative trait loci and bioinformatic strategies, we identify 121 candidate genes enriched in functions relevant to red blood cell biology. The candidate genes are expressed preferentially in red blood cell precursors, and 43 have haematopoietic phenotypes in Mus musculus or Drosophila melanogaster. Through open-chromatin and coding-variant analyses we identify potential causal genetic variants at 41 loci. Our findings provide extensive new insights into genetic mechanisms and biological pathways controlling red blood cell formation and function.
|
|
| 68. |
- Acciarri, R., et al.
(författare)
-
Demonstration of MeV-scale physics in liquid argon time projection chambers using ArgoNeuT
- 2019
-
Ingår i: Physical Review D. - : AMER PHYSICAL SOC. - 2470-0010 .- 2470-0029. ; 99:1
-
Tidskriftsartikel (refereegranskat)abstract
- MeV-scale energy depositions by low-energy photons produced in neutrino-argon interactions have been identified and reconstructed in ArgoNeuT liquid argon time projection chamber (LArTPC) data. ArgoNeuT data collected on the NuMI beam at Fermilab were analyzed to select isolated low-energy depositions in the TPC volume. The total number, reconstructed energies, and positions of these depositions have been compared to those from simulations of neutrino-argon interactions using the FLUKA Monte Carlo generator. Measured features are consistent with energy depositions from photons produced by deexcitation of the neutrino's target nucleus and by inelastic scattering of primary neutrons produced by neutrino-argon interactions. This study represents a successful reconstruction of physics at the MeV scale in a LArTPC, a capability of crucial importance for detection and reconstruction of supernova and solar neutrino interactions in future large LArTPCs.
|
|
| 69. |
- Aubert, S, et al.
(författare)
-
Global Matrix 4.0 Physical Activity Report Card Grades for Children and Adolescents: Results and Analyses From 57 Countries
- 2022
-
Ingår i: Journal of physical activity & health. - : Human Kinetics. - 1543-5474 .- 1543-3080. ; 19:11, s. 700-728
-
Tidskriftsartikel (refereegranskat)abstract
- Background: The Global Matrix 4.0 on physical activity (PA) for children and adolescents was developed to achieve a comprehensive understanding of the global variation in children’s and adolescents’ (5–17 y) PA, related measures, and key sources of influence. The objectives of this article were (1) to summarize the findings from the Global Matrix 4.0 Report Cards, (2) to compare indicators across countries, and (3) to explore trends related to the Human Development Index and geo-cultural regions. Methods: A total of 57 Report Card teams followed a harmonized process to grade the 10 common PA indicators. An online survey was conducted to collect Report Card Leaders’ top 3 priorities for each PA indicator and their opinions on how the COVID-19 pandemic impacted child and adolescent PA indicators in their country. Results: Overall Physical Activity was the indicator with the lowest global average grade (D), while School and Community and Environment were the indicators with the highest global average grade (C+). An overview of the global situation in terms of surveillance and prevalence is provided for all 10 common PA indicators, followed by priorities and examples to support the development of strategies and policies internationally. Conclusions: The Global Matrix 4.0 represents the largest compilation of children’s and adolescents’ PA indicators to date. While variation in data sources informing the grades across countries was observed, this initiative highlighted low PA levels in children and adolescents globally. Measures to contain the COVID-19 pandemic, local/international conflicts, climate change, and economic change threaten to worsen this situation.
|
|
| 70. |
- Battistoni, G, et al.
(författare)
-
FLUKA Monte Carlo calculations for hadrontherapy application
- 2013
-
Ingår i: CERN-Proceedings-2012-002. ; , s. 461-467
-
Konferensbidrag (refereegranskat)abstract
- Monte Carlo (MC) codes are increasingly spreading in the hadrontherapy community due to their detailed description of radiation transport and interaction with matter. The suitability of a MC code for application to hadrontherapy demands accurate and reliable physical models for the description of the transport and the interaction of all components of the expected radiation field (ions, hadrons, electrons, positrons and photons). This contribution will address the specific case of the general-purpose particle and interaction code FLUKA. In this work, an application of FLUKA will be presented, i.e. establishing CT (computed tomography)-based calculations of physical and RBE (relative biological effectiveness)-weighted dose distributions in scanned carbon ion beam therapy.
|
|
