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An intronic variant in ANKRD55, rs6859219, is a genetic risk factor for multiple sclerosis, but the biological reasons underlying this association are unknown. We characterized the expression of ANKRD55 in human PBMCs and cell lines. Three ANKRD55 transcript variants (Ensembl isoforms 001, 005, and 007) could be detected in PBMCs and CD4(+) T cells but were virtually absent in CD8(+), CD14(+), CD1
BACKGROUND: Single nucleotide polymorphisms (SNPs) near SOCS1 are associated with multiple sclerosis (MS), but the most important SNPs in the area and mechanisms by which they influence the disease are unknown.METHODS: A haplotype-tagging association study was performed covering 60.5kbp around SOCS1, and the index SNP was validated in a total of 2292 individuals. mRNA expression of SOCS1 and nearb
A recent genome-wide association study reported five loci for which there was strong, but sub-genome-wide significant evidence for association with multiple sclerosis risk. The aim of this study was to evaluate the role of these potential risk loci in a large and independent data set of ≈ 20,000 subjects. We tested five single nucleotide polymorphisms rs228614 (MANBA), rs630923 (CXCR5), rs2744148
BACKGROUND: Single nucleotide polymorphisms (SNPs) rs429358 (ε4) and rs7412 (ε2), both invoking changes in the amino-acid sequence of the apolipoprotein E (APOE) gene, have previously been tested for association with multiple sclerosis (MS) risk. However, none of these studies was sufficiently powered to detect modest effect sizes at acceptable type-I error rates. As both SNPs are only imperfectly
Recently, we reported an association between a SNP in IL28RA and MS. Here, we performed a fine-mapping of the IL28RA locus by genotyping 10 haplotype-tagging SNPs in a Basque-Spanish population. In addition, based on shared genetic risk loci between autoimmune diseases, a psoriasis-associated SNP located at this locus, rs4649203, was genotyped in four independent populations, comprising a total of
Multiple sclerosis (MS) shares some risk genes with other disorders hallmarked by an autoimmune pathogenesis, most notably IL2RA and CLEC16A. We analyzed 10 single-nucleotide polymorphisms (SNPs) in nine risk genes, which recently emerged from a series of non-MS genome-wide association studies (GWAS), in a Spanish cohort comprising 2895 MS patients and 2942 controls. We identified two SNPs associa
The IL22RA2 locus is associated with risk for multiple sclerosis (MS) but causative variants are yet to be determined. In a single nucleotide polymorphism (SNP) screen of this locus in a Basque population, rs28385692, a rare coding variant substituting Leu for Pro at position 16 emerged significantly (p = 0.02). This variant is located in the signal peptide (SP) shared by the three secreted protei
Myeloproliferative neoplasms (MPNs) are blood cancers that are characterized by the excessive production of mature myeloid cells and arise from the acquisition of somatic driver mutations in haematopoietic stem cells (HSCs). Epidemiological studies indicate a substantial heritable component of MPNs that is among the highest known for cancers1. However, only a limited number of genetic risk loci ha
A game ontology, that is, a categorization with the aim of making sense of games and gaming from a particular perspective, namely love.
Background: ICU prognostication is difficult because of patients’ prior comorbidities and their varied reasons for admission. The model used for ICU prognostication in Sweden is the Simplified Acute Physiology Score 3 (SAPS 3), which uses information gathered within one hour of ICU admission to predict 30-day mortality. Since the SAPS 3 model was introduced, no biomarkers have been added to it to
Photoinduced bimolecular charge transfer processes involving the iron(III) N-heterocyclic carbene (FeNHC) photosensitizer [Fe(phtmeimb)2]+ (phtmeimb = phenyltris(3-methyl-imidazolin-2-ylidene)borate) and triethylamine as well as N,N-dimethylaniline donors have been studied using optical spectroscopy. The full photocycle of charge separation and recombination down to ultrashort time scales was stud
The focus of this chapter is the conversations with parents that were conducted during the project "Opportunities for preschool in a migrating world". The background for the conversations with parents lies in the preschool staff's perception that what makes their particular approach unique and valuable depends on the time and care they put into contact with the parents. Several aspects of the sect
Urgent structural change is required in higher education to allow collaboration both within and acrossuniversities so that achieving a rapid sustainability transition can become the overarching and mainpurpose of education, research and work in society. A review of the literature reveals that fragmentation,caused by traditional hierarchical faculty and disciplinary organisation, is a major obstacl
The system of welcoming newly arrived students in Sweden has experienced numerous modifications since its inception. Additionally, because the interpretation of education laws us left to the municipalities and head teachers, the various policies have resulted in a multitude of local practices. Over the years, a very wide range of models for organising newcomer reception have therefore been tried o
Introduction Studies about machinery equipment investment have a long tradition in economics and economic history. Since the analysis of the Industrial Revolution and the growth studies of the twentieth century, there are indications that economic growth of countries has a strong nexus with investment in capital formation and speci cally, with the machinery equipment investment. However, in the ca
The use and promotion of pesticides is on the increase in many sub-Saharan African countries, including in the smallholder sector. This paper stems from placed-based research in Uganda and aims at advancing current knowledge on smallholder farmers' motivations for pesticide use, the extent and character of such use, as well as on lived experiences regarding the impacts of pesticides. Data was gene
We study phonon emission in a GaAs/AlGaAs double quantum dot by monitoring the tunneling of a single electron between the two dots. We prepare the system such that a known amount of energy is emitted in the transition process. The energy is converted into lattice vibrations, and the resulting tunneling rate depends strongly on the phonon scattering and its effective phonon spectral density. We are
The beach is the main accessible public space for the inhabitants of Gaza, and plays a central role for leisure time and recreation. However, the water is contaminated and dangerous for bathing, which reflects the major issues Gaza faces with wastewater treatment and adequate infrastructure.
The purpose of this study was to investigate for how long the thermal power of hydration can be measured with isothermal calorimetry, which is a general measurement technique with stable properties that, in many cases, can detect low rates of processes. Measurements were conducted for 365 days on cement paste with Portland cement, fly ash blended Portland cement and different water-to-binder ratio
