| 1. |
- Kanai, M, et al.
(author)
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- 2023
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swepub:Mat__t
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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. |
- Nicolas, Aude, et al.
(author)
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Genome-wide Analyses Identify KIF5A as a Novel ALS Gene
- 2018
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In: Neuron. - : Cell Press. - 0896-6273 .- 1097-4199. ; 97:6, s. 1268-1283.e6
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Journal article (peer-reviewed)abstract
- To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases. Taken together, these results broaden the phenotype spectrum resulting from mutations in KIF5A and strengthen the role of cytoskeletal defects in the pathogenesis of ALS.
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| 4. |
- El-Sayed, Najib M., et al.
(author)
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The genome sequence of Trypanosoma cruzi, etiologic agent of Chagas disease.
- 2005
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In: Science. - : American Association for the Advancement of Science (AAAS). - 1095-9203 .- 0036-8075. ; 309:5733, s. 409-15
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Journal article (peer-reviewed)abstract
- Whole-genome sequencing of the protozoan pathogen Trypanosoma cruzi revealed that the diploid genome contains a predicted 22,570 proteins encoded by genes, of which 12,570 represent allelic pairs. Over 50% of the genome consists of repeated sequences, such as retrotransposons and genes for large families of surface molecules, which include trans-sialidases, mucins, gp63s, and a large novel family (>1300 copies) of mucin-associated surface protein (MASP) genes. Analyses of the T. cruzi, T. brucei, and Leishmania major (Tritryp) genomes imply differences from other eukaryotes in DNA repair and initiation of replication and reflect their unusual mitochondrial DNA. Although the Tritryp lack several classes of signaling molecules, their kinomes contain a large and diverse set of protein kinases and phosphatases; their size and diversity imply previously unknown interactions and regulatory processes, which may be targets for intervention.
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| 5. |
- Gunbeyaz, Sefer Anil, et al.
(author)
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Workers' exposure to dust and potentially toxic elements during steel cutting in two ship dismantling cases
- 2023
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In: Ocean Engineering. - : Elsevier Ltd. - 0029-8018 .- 1873-5258. ; 270
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Journal article (peer-reviewed)abstract
- Ship dismantling is the recommended recycling solution for the end of a ship's life, but the process is not free of occupational risk. Despite proper regulations, there are underlying chemical and physical hazards, mainly due to the cutting of steel parts, which is the core of the recycling process. The overall aim of this research study is to determine, in two case study examples, the ship recycling workers' potential occupational exposure by inhalation of chemical agents generated by the torch cutting process of coated and de-coated steel. This was carried out specifically through (i) monitoring and measuring ship recycling workers' local environment for the inhalable (total dust) and respirable (fine dust) fractions during their working operations, (ii) analysing the heavy metal content of the dust and (iii) calculating and comparing this against occupational exposure limits, (iv) comparing de-coating operations with cutting of coated and de-coated steel. Results of this study show that without further mitigation workers involved in torch cutting processes are at high risk of exposure to heavy metals by inhalation as these are exceeding the norms defined by regulatory bodies. © 2023 The Authors
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| 6. |
- Priori, Silvia G., et al.
(author)
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Task Force on Sudden Cardiac Death, European Society of Cardiology
- 2002
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In: Europace. - : Oxford University Press (OUP). - 1099-5129 .- 1532-2092. ; 4:1, s. 3-18
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Journal article (peer-reviewed)abstract
- The European Society of Cardiology has convened a Task Force on Sudden Cardiac Death in order to provide a comprehensive, educational document on this important topic. The main document has been published in the European Heart Journal in August 2001[1]. The Task Force has now summarized the most important clinical issues on sudden cardiac death and provided tables with recommendations for risk stratification and for prophylaxis of sudden cardiac death. The present recommendations are specifically intended to encourage the development and revision of national guidelines on prevention of sudden cardiac death. The common challenge for cardiologists, physicians of other medical specialties and health professionals throughout Europe is to realize the potential for sudden cardiac death prevention and to contribute to public health efforts to reduce its burden.
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