| 1. |
- Wang, Li-San, et al.
(author)
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Rarity of the Alzheimer Disease-Protective APP A673T Variant in the United States.
- 2015
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In: JAMA neurology. - : American Medical Association (AMA). - 2168-6157 .- 2168-6149. ; 72:2
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Journal article (peer-reviewed)abstract
- Recently, a rare variant in the amyloid precursor protein gene (APP) was described in a population from Iceland. This variant, in which alanine is replaced by threonine at position 673 (A673T), appears to protect against late-onset Alzheimer disease (AD). We evaluated the frequency of this variant in AD cases and cognitively normal controls to determine whether this variant will significantly contribute to risk assessment in individuals in the United States.
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| 2. |
- Niemi, MEK, et al.
(author)
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- 2021
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swepub:Mat__t
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| 3. |
- Clark, Andrew G., et al.
(author)
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Evolution of genes and genomes on the Drosophila phylogeny
- 2007
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In: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 450:7167, s. 203-218
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Journal article (peer-reviewed)abstract
- Comparative analysis of multiple genomes in a phylogenetic framework dramatically improves the precision and sensitivity of evolutionary inference, producing more robust results than single-genome analyses can provide. The genomes of 12 Drosophila species, ten of which are presented here for the first time (sechellia, simulans, yakuba, erecta, ananassae, persimilis, willistoni, mojavensis, virilis and grimshawi), illustrate how rates and patterns of sequence divergence across taxa can illuminate evolutionary processes on a genomic scale. These genome sequences augment the formidable genetic tools that have made Drosophila melanogaster a pre-eminent model for animal genetics, and will further catalyse fundamental research on mechanisms of development, cell biology, genetics, disease, neurobiology, behaviour, physiology and evolution. Despite remarkable similarities among these Drosophila species, we identified many putatively non-neutral changes in protein-coding genes, non-coding RNA genes, and cis-regulatory regions. These may prove to underlie differences in the ecology and behaviour of these diverse species.
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| 4. |
- Chahed, Yasmine, et al.
(author)
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The value of research activities “other than” publishing articles : reflections on an experimental workshop series
- 2024
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In: Accounting, Auditing & Accountability Journal. - : Emerald Group Publishing Limited. - 0951-3574.
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Journal article (peer-reviewed)abstract
- Purpose: The purpose of this essay is to explore the opportunities and challenges that early-career researchers (ECRs) face when they seek to contribute to academic knowledge production through research activities “other than” those directly focused on making progress with their own, to-be-published, research papers in a context associated with the “publish or perish” (PoP) mentality.Design/methodology/approach: Drawing broadly on the notion of technologies of humility (Jasanoff, 2003), this reflective essay develops upon the experiences of the authors in organizing and participating in a series of nine workshops undertaken between June 2013 and April 2021, as well as the arduous process of writing this paper itself. Retrospective accounts, workshop materials, email exchanges and surveys of workshop participants provide the key data sources for the analysis presented in the paper.Findings: The paper shows how the organization of the workshops is intertwined with the building of a small community of ECRs and exploration of how to address the perceived limitations of a “gap-spotting” approach to developing research ideas and questions. The analysis foregrounds how the workshops provide a seemingly valuable research experience that is not without contradictions. Workshop participation reveals tensions between engagement in activities “other than” working on papers for publication and institutionalized pressures to produce publication outputs, between the (weak) perceived status of ECRs in the field and the aspiration to make a scholarly contribution, and between the desire to develop a personally satisfying intellectual journey and the pressure to respond to requirements that allow access to a wider community of scholars.Originality/value: Our analysis contributes to debates about the ways in which seemingly valuable outputs are produced in academia despite a pervasive “publish or perish” mentality. The analysis also shows how reflexive writing can help to better understand the opportunities and challenges of pursuing activities that might be considered “unproductive” because they are not directly related to to-be-published papers.
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| 5. |
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| 6. |
- Ferrari, Raffaele, et al.
(author)
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Frontotemporal dementia and its subtypes: a genome-wide association study.
- 2014
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In: Lancet Neurology. - 1474-4465. ; 13:7, s. 686-699
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Journal article (peer-reviewed)abstract
- Frontotemporal dementia (FTD) is a complex disorder characterised by a broad range of clinical manifestations, differential pathological signatures, and genetic variability. Mutations in three genes-MAPT, GRN, and C9orf72-have been associated with FTD. We sought to identify novel genetic risk loci associated with the disorder.
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| 7. |
- Houra-Yaou, Ladonne, et al.
(author)
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Production of meson pairs involving L not = 0 mesons in photon-photon collisions
- 1998
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In: Workshop on Diquarks III. - Singapore : World Scientific and Engineering Academy and Society. - 9810236352 ; , s. 70-80
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Conference paper (peer-reviewed)abstract
- We present a formalism for studying the exclusive production or decay of mesons with any value of the internal orbital angular momentum L. As an application, we discuss the production of meson pairs (involving tensor and pseudotensor mesons) in photon-photon collisions.
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| 8. |
- Houra-Yaou, Ladonne, et al.
(author)
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Production of meson pairs, involving tensor and pseudotensor mesons, in photon-photon collisions
- 1997
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In: Zeitschrift für Physik C Particles and Fields. - : Springer Science and Business Media LLC. - 0170-9739 .- 1431-5858. ; 76:3, s. 537-547
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Journal article (peer-reviewed)abstract
- Starting from a bound-state model of weakly bound quarks for (q [`(q)]) mesons, we derive a formalism for computing the production or decay of such mesons, whatever the value of their internal orbital angular momentum L. That approach appears as a natural generalization of the Brodsky-Lepage formalism (valid only for L=0) that has been widely used in recent years for the computation of exclusive processes in perturbative QCD . We here apply it to the production, in photon-photon collisions, of: i) tensor-meson pairs; ii) pseudotensor-meson pairs; iii) hybrid pairs made of a pion and a pseudotensor meson. The numerical results we obtain allow for some hope of experimentally identifying such pairs, in the charged channels, at high-energy e+e- colliders of the next generation, provided integrated luminosities as high as » 1040 cm-2 can be reached.
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| 9. |
- Labbé, Catherine, et al.
(author)
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Role for the microtubule-associated protein tau variant p.A152T in risk of α-synucleinopathies.
- 2015
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In: Neurology. - 1526-632X. ; 85:19, s. 1680-1686
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Journal article (peer-reviewed)abstract
- Objective:To assess the importance of MAPT variant p.A152T in the risk of synucleinopathies. Methods:In this case-control study, we screened a large global series of patients and controls, and assessed associations between p.A152T and disease risk. We included 3,229 patients with clinical Parkinson disease (PD), 442 with clinical dementia with Lewy bodies (DLB), 181 with multiple system atrophy (MSA), 832 with pathologically confirmed Lewy body disease (LBD), and 2,456 healthy controls. Results:The minor allele frequencies (MAF) in clinical PD cases (0.28%) and in controls (0.2%) were not found to be significantly different (odds ratio [OR] 1.37, 95% confidence interval [CI] 0.63-2.98, p = 0.42). However, a significant association was observed with clinical DLB (MAF 0.68%, OR 5.76, 95% CI 1.62-20.51, p = 0.007) and LBD (MAF 0.42%, OR 3.55, 95% CI 1.04-12.17, p = 0.04). Additionally, p.A152T was more common in patients with MSA compared to controls (MAF 0.55%, OR 4.68, 95% CI 0.85-25.72, p = 0.08) but this was not statistically significant and therefore should be interpreted with caution. Conclusions:Overall, our findings suggest that MAPT p.A152T is a rare low penetrance variant likely associated with DLB that may be influenced by coexisting LBD and AD pathology. Given the rare nature of the variant, further studies with greater sample size are warranted and will help to fully explain the role of p.A152T in the pathogenesis of the synucleinopathies
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| 10. |
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