| 1. |
- Bento, Celeste, et al.
(författare)
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Genetic Basis of Congenital Erythrocytosis : Mutation Update and Online Databases
- 2014
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Ingår i: Human Mutation. - : Wiley-Blackwell. - 1059-7794 .- 1098-1004. ; 35:1, s. 15-26
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Tidskriftsartikel (refereegranskat)abstract
- Congenital erythrocytosis (CE), or congenital polycythemia, represents a rare and heterogeneous clinical entity. It is caused by deregulated red blood cell production where erythrocyte overproduction results in elevated hemoglobin and hematocrit levels. Primary congenital familial erythrocytosis is associated with low erythropoietin (Epo) levels and results from mutations in the Epo receptor gene (EPOR). Secondary CE arises from conditions causing tissue hypoxia and results in increased Epo production. These include hemoglobin variants with increased affinity for oxygen (HBB, HBA mutations), decreased production of 2,3-bisphosphoglycerate due to BPGM mutations, or mutations in the genes involved in the hypoxia sensing pathway (VHL, EPAS1, and EGLN1). Depending on the affected gene, CE can be inherited either in an autosomal dominant or recessive mode, with sporadic cases arising de novo. Despite recent important discoveries in the molecular pathogenesis of CE, the molecular causes remain to be identified in about 70% of the patients. With the objective of collecting all the published and unpublished cases of CE the COST action MPN&MPNr-Euronet developed a comprehensive Internet-based database focusing on the registration of clinical history, hematological, biochemical, and molecular data (http://www.erythrocytosis.org/). In addition, unreported mutations are also curated in the corresponding Leiden Open Variation Database.
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| 2. |
- Budurushi, Jurlind, et al.
(författare)
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Entwicklung eines Common Criteria Schutzprofils für elektronische Wahlgeräte mit Paper Audit Trail
- 2014
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Ingår i: Informatik 2014 - BIG DATA: Komplexität meistern. - Bonn : Gesellschaft für Informatik. ; , s. 1415-1426
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Konferensbidrag (refereegranskat)abstract
- Mit dem Urteil vom 3. Marz 2009 hat das Bundesverfassungsgericht die bislang in der Bundesrepublik Deutschland eingesetzten Wahlgeräte für verfassungswidrig erklart. Grund für dieses Urteil war die fehlende Umsetzung des Prinzips der Öffentlichkeit der Wahl. Mit dem Urteil erklarte das Gericht jedoch nicht grundsätzlich den Einsatz elektronischer Wahlgeräte für verfassungswidrig. Im Rahmen des von der DFG geforderten Projekts ’VerKonWa’ wurde das EasyVote System entwickelt, welches den Öffentlichkeitsgrundsatz durch sogenannte Paper Audit Trails umsetzt. Im Rahmen dieser Arbeit berichten wir über die Erfahrung bei der Entwicklung eines Common Criteria Schutzprofils für elektronische Wahlgeräte mit Paper Audit Trails.
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| 3. |
- Budurushi, Jurlind, et al.
(författare)
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Introduction to special issue on e-voting
- 2018
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Ingår i: Journal of Information Security and Applications. - : Elsevier. - 2214-2134 .- 2214-2126. ; 38, s. 122-123
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Tidskriftsartikel (refereegranskat)
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| 4. |
- Carroll, Jennifer K., et al.
(författare)
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Enhancing international collaboration among early career researchers
- 2010
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Ingår i: Patient Education and Counseling. - : Elsevier BV. - 0738-3991. ; 80:3, s. 417-420
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Tidskriftsartikel (refereegranskat)abstract
- Objective: The European Association of Communication in Healthcare (EACH) Early Career Researchers Network (ECRN) aims are to (1) promote international collaboration among young investigators and (2) provide a support network for future innovative communication research projects. In October 2009, Miami, USA at a workshop facilitated by the ECRN at the International Conference on Communication in Healthcare (ICCH) hosted by the American Academy of Communication in Healthcare we explored common facilitators and challenges faced by early career researchers in health communication research. Methods: Attendees introduced themselves, their research area(s) of interest, and listed one facilitator and one barrier for their career development. EACH ECRN members then led a discussion of facilitators and challenges encountered in communication research projects and career development. We discussed potential collaboration opportunities, future goals, and activities. Results: Having supportive collegial relationships, institutional support, job security, and funding are critical facilitators for early career investigators. Key challenges include difficulty with time management and prioritizing, limited resources, and contacts. Conclusion: International collaboration among early career researchers is a feasible and effective means to address important challenges, by increasing opportunities for professional support and networking, problem-solving, discussion of data, and ultimately publishing. Practice implications: Future AACH-EACH Early Career Researcher Networks should continue to build collaborations by developing shared research projects, papers, and other scholarly products. (C) 2010 Published by Elsevier Ireland Ltd.
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| 5. |
- Hellwig, Malte, et al.
(författare)
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TCF4 (E2-2) harbors tumor suppressive functions in SHH medulloblastoma
- 2019
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Ingår i: Acta Neuropathologica. - : Springer Science and Business Media LLC. - 0001-6322 .- 1432-0533. ; 137:4, s. 657-673
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Tidskriftsartikel (refereegranskat)abstract
- The TCF4 gene encodes for the basic helix–loop–helix transcription factor 4 (TCF4), which plays an important role in the development of the central nervous system (CNS). Haploinsufficiency of TCF4 was found to cause Pitt-Hopkins syndrome (PTHS), a severe neurodevelopmental disorder. Recently, the screening of a large cohort of medulloblastoma (MB), a highly aggressive embryonal brain tumor, revealed almost 20% of adult patients with MB of the Sonic hedgehog (SHH) subtype carrying somatic TCF4 mutations. Interestingly, many of these mutations have previously been detected as germline mutations in patients with PTHS. We show here that overexpression of wild-type TCF4 in vitro significantly suppresses cell proliferation in MB cells, whereas mutant TCF4 proteins do not to the same extent. Furthermore, RNA sequencing revealed significant upregulation of multiple well-known tumor suppressors upon expression of wild-type TCF4. In vivo, a prenatal knockout of Tcf4 in mice caused a significant increase in apoptosis accompanied by a decreased proliferation and failed migration of cerebellar granule neuron precursor cells (CGNP), which are thought to be the cells of origin for SHH MB. In contrast, postnatal in vitro and in vivo knockouts of Tcf4 with and without an additional constitutive activation of the SHH pathway led to significantly increased proliferation of CGNP or MB cells. Finally, publicly available data from human MB show that relatively low expression levels of TCF4 significantly correlate with a worse clinical outcome. These results not only point to time-specific roles of Tcf4 during cerebellar development but also suggest a functional linkage between TCF4 mutations and the formation of SHH MB, proposing that TCF4 acts as a tumor suppressor during postnatal stages of cerebellar development.
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| 6. |
- Kulyk, Oksana, et al.
(författare)
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Coercion-resistant Proxy Voting
- 2016
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Ingår i: ICT Systems Security and Privacy Protection. - Cham : Springer. - 9783319336299 ; , s. 3-16
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Konferensbidrag (refereegranskat)abstract
- In general, most elections follow the principle of equality, or as it came to be known, the principle of "one man - one vote". However, this principle might pose difficulties for voters, who are not well informed regarding the particular matter that is voted on. In order to address this issue, a new form of voting has been proposed, namely proxy voting. In proxy voting, each voter has the possibility to delegate her voting right to another voter, so called proxy, that she considers a trusted expert on the matter. In this paper we propose an end-to-end verifiable Internet voting scheme, which to the best of our knowledge is the first scheme to address voter coercion in the proxy voting setting.
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| 7. |
- Kulyk, Oksana, et al.
(författare)
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Coercion-resistant proxy voting
- 2017
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Ingår i: Computers & security (Print). - : Elsevier BV. - 0167-4048 .- 1872-6208. ; 71, s. 88-99
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Tidskriftsartikel (refereegranskat)abstract
- In general, most elections follow the principle of equality, or as it came to be known, the principle of "one person-one vote". However, this principle might pose difficulties for voters, who are not well informed regarding the particular matter that is voted on. In order to address this issue, a new form of voting has been proposed, namely proxy voting. In proxy voting, each voter has the possibility to delegate her voting right to another voter, so called proxy, that she considers a trusted expert on the matter. In this paper we propose an end-to-end verifiable Internet voting scheme, which to the best of our knowledge is the first scheme to address voter coercion in the proxy voting setting. (C) 2017 Elsevier Ltd. All rights reserved.
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| 8. |
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| 9. |
- Kulyk, Oksana, et al.
(författare)
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Electronic Voting with Fully Distributed Trust and Maximized Flexibility Regarding Ballot Design
- 2014
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Ingår i: 2014 6TH INTERNATIONAL CONFERENCE ON ELECTRONIC VOTING. - : IEEE. - 9783200036970
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Konferensbidrag (refereegranskat)abstract
- One common way to ensure the security in voting schemes is to distribute critical tasks between different entities so called trustees. While in most election settings election authorities perform the task of trustees, elections in small groups such as board elections can be implemented in a way that all voters are also trustees. This is actually the ideal case for an election as trust is maximally distributed. A number of voting schemes have been proposed for facilitating such elections. Our focus is on a mix net based approach to maximize flexibility regarding ballot design. We proposed and implemented a corresponding voting scheme as an Android smartphone application. We believe smartphones are most likely to be used in the election settings that we consider in the paper. Our implementation also enables voters to remotely participate in the voting process. The implementation enables us to measure timings for the tallying phase for different settings in order to analyze whether the chosen mix net based scheme is suitable for the considered election settings.
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| 10. |
- Kulyk, Oksana, et al.
(författare)
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Introducing Proxy Voting to Helios
- 2016
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Ingår i: Proceedings of 2016 11th International Conference on Availability, Reliability and Security, (Ares 2016). - : IEEE. - 9781509009909 ; , s. 98-106
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Konferensbidrag (refereegranskat)abstract
- Proxy voting is a form of voting, where the voters can either vote on an issue directly, or delegate their voting right to a proxy. This proxy might for instance be a trusted expert on the particular issue. In this work, we extend the widely studied end-to-end verifiable Helios Internet voting system towards the proxy voting approach. Therefore, we introduce a new type of credentials, so-called delegation credentials. The main purpose of these credentials is to ensure that the proxy has been authorised by an eligible voter to cast a delegated vote. If voters, after delegating, change their mind and want to vote directly, cancelling a delegation is possible throughout the entire voting phase. We show that the proposed extension preserves the security requirements of the original Helios system for the votes that are cast directly, as well as security requirements tailored toward proxy voting.
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