Browsing by Subject "BODY"

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  • JSCRG; TSRHCCG (2018)
    Adolescent idiopathic scoliosis (AIS) is the most common type of spinal deformity and has a significant genetic background. Genome-wide association studies (GWASs) identified several susceptibility loci associated with AIS. Among them is a locus on chromosome 6q24.1 that we identified by a GWAS in a Japanese cohort. The locus is represented by rs6570507 located within GPR126. To ensure the association of rs6570507 with AIS, we conducted a meta-analysis using eight cohorts from East Asia, Northern Europe and USA. The analysis included a total of 6,873 cases and 38,916 controls and yielded significant association (combined P = 2.95 x 10(-20); odds ratio = 1.22), providing convincing evidence of the worldwide association between rs6570507 and AIS susceptibility. In silico analyses strongly suggested that GPR126 is a susceptibility gene at this locus.
  • Kotilainen, Hannele; Lokki, Marja-Liisa; Paakkanen, Riitta; Seppanen, Mikko; Tukiainen, Pentti; Meri, Seppo; Poussa, Tuija; Eskola, Jussi; Valtonen, Ville; Jarvinen, Asko (2014)
  • Lizotte, Christopher (2020)
    Laicite, France's idiosyncratic form of secularism, is a complex concept that is dense with historical genealogy, practical contradictions and - crucially - political geographies. In particular, contemporary Laicite is characterized by a state-sponsored model of universal citizenship that regards French Muslims' identity claims with mistrust. This tension, always latent, was brought to the fore by a series of attacks perpetrated self-styled jihadists in January 2015, centered on the offices of the satirical magazine Charlie Hebdo notorious for its provocations against Islam. The attacks and their aftermath also highlighted a key space where conflicts over Laicite often play out: the French public school, the ecole republicaine. This institution was conceived in its modern form as a mechanism to assimilate through laique pedagogy. Today it is a highly visible space where the optics of race and gender contribute to a narrative of Muslim communautarisme, a willful and defiant communalism that rejects the republican community of citizens. Following a handful of incidents in which students refused to participate in a moment of silence for the victims of the January 2015 attacks, the Ministry of Education undertook an initiative involving disciplinary and pedagogical supports for Laicite in the schools, called the Great Mobilisation for the Republic's Values. Like other past interventions in this area, it operationalizes an assimilating vision of Laicite to bring recalcitrant peripheries into compliance with republican norms. At the same time, though, it reveals the agency of the peripheries to negotiate the terms of Laicite according to local knowledge and needs. On the basis of interviews with educators serving in schools where elements of the Grand Mobilisation were carried out, I show how they push back against the overarching narratives that characterize the initiative and in so doing construct localized and nuanced understandings of the laique social pact.
  • Genomics England Res Consortium; Chen, Zhongbo; Yau, Wai Yan; Jaunmuktane, Zane; Tienari, Pentti J.; Suomalainen, Anu; Haltia, Matti J.; Houlden, Henry (2020)
    Neuronal intranuclear inclusion disease (NIID) is a clinically heterogeneous neurodegenerative condition characterized by pathological intranuclear eosinophilic inclusions. A CGG repeat expansion inNOTCH2NLCwas recently identified to be associated with NIID in patients of Japanese descent. We screened pathologically confirmed European NIID, cases of neurodegenerative disease with intranuclear inclusions and applied in silico-based screening using whole-genome sequencing data from 20 536 participants in the 100 000 Genomes Project. We identified a single European case harbouring the pathogenic repeat expansion with a distinct haplotype structure. Thus, we propose new diagnostic criteria as European NIID represents a distinct disease entity from East Asian cases.
  • Markkanen, Johannes; Ylä-Oijala, Pasi (2016)
    We study and compare spectral properties of various volume-integral-equation formulations. The equations are written for the electric flux, current, field, and potentials, and discretized with basis functions spanning the appropriate function spaces. Each formulation leads to eigenvalue distributions of different kind due to the effects of discretization procedure, namely, the choice of basis and testing functions. The discrete spectrum of the potential formulation reproduces the theoretically predicted spectrum almost exactly while the spectra of other formulations deviate from the ideal one. It is shown that the potential formulation has the spectral properties desired from the preconditioning perspective. (C) 2016 Elsevier Ltd. All rights reserved.
  • Markkanen, Johannes; Ylä-Oijala, Pasi; Järvenpää, Seppo (IEEE, 2016)
    URSI International Symposium on Electromagnetic Theory
    Spectral properties of current-based volume integral equation of electromagnetic scattering are investigated in the case of isotropic and bi-isotropic objects. Using Helmholtz decomposition the spectrum is derived separately for the solenoidal, irrotational, and harmonic subspaces. Based on this analysis, preconditioning strategies of the matrix equation are discussed.
  • Nazarov, Sergey A.; Taskinen, Jari (2018)
    We investigate eigenfunctions of the Neumann Laplacian in a bounded domain Omega subset of Rd, where a cuspidal singularity is caused by a cavity consisting of two touching balls, or discs in the planar case. We prove that the eigenfunctions with all of their derivatives are bounded in (Omega)over bar, if the dimension d equals 2, but in dimension d >= 3 their gradients have a strong singularity O(vertical bar x ? O vertical bar(-alpha)), alpha is an element of (0,2 - root 2] at the point of tangency O. Our study is based on dimension reduction and other asymptotic procedures, as well as the Kondratiev theory applied to the limit differential equation in the punctured hyperplane Rd(-1) backslash O . We also discuss other shapes producing thinning gaps between touching cavities. (c) 2017 Elsevier Inc. All rights reserved.
  • Abrego, Nerea; Dunson, David; Halme, Panu; Salcedo, Isabel; Ovaskainen, Otso (2017)
    Research on mutualistic and antagonistic networks, such as plant-pollinator and host-parasite networks, has shown that species interactions can influence and be influenced by the responses of species to environmental perturbations. Here we examine whether results obtained for directly observable networks generalize to more complex networks in which species interactions cannot be observed directly. As a case study, we consider data on the occurrences of 98 wood-inhabiting fungal species in managed and natural forests. We specifically ask if and how much the positions of wood-inhabiting fungal species within the interaction networks influence their responses to forest management. For this, we utilize a joint species distribution model that partitions variation in species occurrences among environmental (i.e. resource availability) and biotic (i.e. species-to-species associations) predictors. Our results indicate that in addition to the direct loss of resource-specialised species, forest management has indirect effects mediated through interactive associations. In particular, species with strong associative links to other species are especially sensitive to forest management.