| 1. |
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| 2. |
- Ahdida, C., et al.
(författare)
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Sensitivity of the SHiP experiment to Heavy Neutral Leptons
- 2019
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Ingår i: Journal of High Energy Physics (JHEP). - 1126-6708 .- 1029-8479. ; :4
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Tidskriftsartikel (refereegranskat)abstract
- Heavy Neutral Leptons (HNLs) are hypothetical particles predicted by many extensions of the Standard Model. These particles can, among other things, explain the origin of neutrino masses, generate the observed matter-antimatter asymmetry in the Universe and provide a dark matter candidate. The SHiP experiment will be able to search for HNLs produced in decays of heavy mesons and travelling distances ranging between O(50 m) and tens of kilometers before decaying. We present the sensitivity of the SHiP experiment to a number of HNL's benchmark models and provide a way to calculate the SHiP's sensitivity to HNLs for arbitrary patterns of flavour mixings. The corresponding tools and data files are also made publicly available.
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| 3. |
- Ahdida, C., et al.
(författare)
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The experimental facility for the Search for Hidden Particles at the CERN SPS
- 2019
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Ingår i: Journal of Instrumentation. - : Institute of Physics Publishing (IOPP). - 1748-0221. ; 14
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Tidskriftsartikel (refereegranskat)abstract
- The Search for Hidden Particles (SHiP) Collaboration has shown that the CERN SPS accelerator with its 400 GeV/c proton beam offers a unique opportunity to explore the Hidden Sector [1-3]. The proposed experiment is an intensity frontier experiment which is capable of searching for hidden particles through both visible decays and through scattering signatures from recoil of electrons or nuclei. The high-intensity experimental facility developed by the SHiP Collaboration is based on a number of key features and developments which provide the possibility of probing a large part of the parameter space for a wide range of models with light long-lived super-weakly interacting particles with masses up to O(10) GeV/c(2) in an environment of extremely clean background conditions. This paper describes the proposal for the experimental facility together with the most important feasibility studies. The paper focuses on the challenging new ideas behind the beam extraction and beam delivery, the proton beam dump, and the suppression of beam-induced background.
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| 4. |
- Ahdida, C., et al.
(författare)
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Fast simulation of muons produced at the SHiP experiment using Generative Adversarial Networks
- 2019
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Ingår i: Journal of Instrumentation. - : IOP PUBLISHING LTD. - 1748-0221. ; 14
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Tidskriftsartikel (refereegranskat)abstract
- This paper presents a fast approach to simulating muons produced in interactions of the SPS proton beams with the target of the SHiP experiment. The SHIP experiment will be able to search for new long-lived particles produced in a 400 GeV/c SPS proton beam dump and which travel distances between fifty metres and tens of kilometers. The SHiP detector needs to operate under ultra-low background conditions and requires large simulated samples of muon induced background processes. Through the use of Generative Adversarial Networks it is possible to emulate the simulation of the interaction of 400 GeV/c proton beams with the SHiP target, an otherwise computationally intensive process. For the simulation requirements of the SHiP experiment, generative networks are capable of approximating the full simulation of the dense fixed target, offering a speed increase by a factor of O(10(6)). To evaluate the performance of such an approach, comparisons of the distributions of reconstructed muon momenta in SHiP's spectrometer between samples using the full simulation and samples produced through generative models are presented. The methods discussed in this paper can be generalised and applied to modelling any non-discrete multi-dimensional distribution.
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| 5. |
- Ahdida, C., et al.
(författare)
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Measurement of the muon flux from 400 GeV/c protons interacting in a thick molybdenum/tungsten target
- 2020
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Ingår i: European Physical Journal C. - : Springer Science and Business Media LLC. - 1434-6044 .- 1434-6052. ; 80:3
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Tidskriftsartikel (refereegranskat)abstract
- The SHiP experiment is proposed to search for very weakly interacting particles beyond the Standard Model which are produced in a 400 GeV/c proton beam dump at the CERN SPS. About 1011muons per spill will be produced in the dump. To design the experiment such that the muon-induced background is minimized, a precise knowledge of the muon spectrum is required. To validate the muon flux generated by our Pythia and GEANT4 based Monte Carlo simulation (FairShip), we have measured the muon flux emanating from a SHiP-like target at the SPS. This target, consisting of 13 interaction lengths of slabs of molybdenum and tungsten, followed by a 2.4 m iron hadron absorber was placed in the H4 400 GeV/c proton beam line. To identify muons and to measure the momentum spectrum, a spectrometer instrumented with drift tubes and a muon tagger were used. During a 3-week period a dataset for analysis corresponding to (3.27 +/- 0.07)x1011protons on target was recorded. This amounts to approximatively 1% of a SHiP spill.
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| 6. |
- Ahdida, C., et al.
(författare)
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Sensitivity of the SHiP experiment to dark photons decaying to a pair of charged particles
- 2021
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Ingår i: European Physical Journal C. - : Springer Nature. - 1434-6044 .- 1434-6052. ; 81:5
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Tidskriftsartikel (refereegranskat)abstract
- Dark photons are hypothetical massive vector particles that could mix with ordinary photons. The simplest theoretical model is fully characterised by only two parameters: the mass of the dark photon m(gamma)D and its mixing parameter with the photon, epsilon. The sensitivity of the SHiP detector is reviewed for dark photons in the mass range between 0.002 and 10 GeV. Different productionmechanisms are simulated, with the dark photons decaying to pairs of visible fermions, including both leptons and quarks. Exclusion contours are presented and compared with those of past experiments. The SHiP detector is expected to have a unique sensitivity for m. D ranging between 0.8 and 3.3(-0.5)(+0.2) GeV, and epsilon(2) ranging between 10(-11) and 10(-17).
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| 7. |
- Ahdida, C., et al.
(författare)
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Sensitivity of the SHiP experiment to light dark matter
- 2021
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Ingår i: Journal of High Energy Physics (JHEP). - : Springer Nature. - 1126-6708 .- 1029-8479. ; :4
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Tidskriftsartikel (refereegranskat)abstract
- Dark matter is a well-established theoretical addition to the Standard Model supported by many observations in modern astrophysics and cosmology. In this context, the existence of weakly interacting massive particles represents an appealing solution to the observed thermal relic in the Universe. Indeed, a large experimental campaign is ongoing for the detection of such particles in the sub-GeV mass range. Adopting the benchmark scenario for light dark matter particles produced in the decay of a dark photon, with αD = 0.1 and mA′ = 3mχ, we study the potential of the SHiP experiment to detect such elusive particles through its Scattering and Neutrino detector (SND). In its 5-years run, corresponding to 2 · 1020 protons on target from the CERN SPS, we find that SHiP will improve the current limits in the mass range for the dark matter from about 1 MeV to 300 MeV. In particular, we show that SHiP will probe the thermal target for Majorana candidates in most of this mass window and even reach the Pseudo-Dirac thermal relic.
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| 8. |
- Ahdida, C., et al.
(författare)
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The magnet of the scattering and neutrino detector for the SHiP experiment at CERN
- 2020
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Ingår i: Journal of Instrumentation. - 1748-0221. ; 15:01
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Tidskriftsartikel (refereegranskat)abstract
- The Search for Hidden Particles (SHiP) experiment proposal at CERN demands a dedicated dipole magnet for its scattering and neutrino detector. This requires a very large volume to be uniformly magnetized at B > 1.2 T, with constraints regarding the inner instrumented volume as well as the external region, where no massive structures are allowed and only an extremely low stray field is admitted. In this paper we report the main technical challenges and the relevant design options providing a comprehensive design for the magnet of the SHiP Scattering and Neutrino Detector.
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| 9. |
- Ahdida, C., et al.
(författare)
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The SHiP experiment at the proposed CERN SPS Beam Dump Facility
- 2022
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Ingår i: European Physical Journal C. - : Springer Nature. - 1434-6044 .- 1434-6052. ; 82:5
-
Tidskriftsartikel (refereegranskat)abstract
- The Search for Hidden Particles (SHiP) Collaboration has proposed a general-purpose experimental facility operating in beam-dump mode at the CERN SPS accelerator to search for light, feebly interacting particles. In the baseline configuration, the SHiP experiment incorporates two complementary detectors. The upstream detector is designed for recoil signatures of light dark matter (LDM) scattering and for neutrino physics, in particular with tau neutrinos. It consists of a spectrometer magnet housing a layered detector system with high-density LDM/neutrino target plates, emulsion-film technology and electronic high-precision tracking. The total detector target mass amounts to about eight tonnes. The downstream detector system aims at measuring visible decays of feebly interacting particles to both fully reconstructed final states and to partially reconstructed final states with neutrinos, in a nearly background-free environment. The detector consists of a 50m\documentclass[12pt]{minimal} \usepackage{amsmath} \usepackage{wasysym} \usepackage{amsfonts} \usepackage{amssymb} \usepackage{amsbsy} \usepackage{mathrsfs} \usepackage{upgreek} \setlength{\oddsidemargin}{-69pt} \begin{document}$$\mathrm { \,m}$$\end{document} long decay volume under vacuum followed by a spectrometer and particle identification system with a rectangular acceptance of 5 m in width and 10 m in height. Using the high-intensity beam of 400GeV\documentclass[12pt]{minimal} \usepackage{amsmath} \usepackage{wasysym} \usepackage{amsfonts} \usepackage{amssymb} \usepackage{amsbsy} \usepackage{mathrsfs} \usepackage{upgreek} \setlength{\oddsidemargin}{-69pt} \begin{document}$$\,\mathrm {GeV}$$\end{document} protons, the experiment aims at profiting from the 4x1019\documentclass[12pt]{minimal} \usepackage{amsmath} \usepackage{wasysym} \usepackage{amsfonts} \usepackage{amssymb} \usepackage{amsbsy} \usepackage{mathrsfs} \usepackage{upgreek} \setlength{\oddsidemargin}{-69pt} \begin{document}$$4\times 10<^>{19}$$\end{document} protons per year that are currently unexploited at the SPS, over a period of 5-10 years. This allows probing dark photons, dark scalars and pseudo-scalars, and heavy neutral leptons with GeV-scale masses in the direct searches at sensitivities that largely exceed those of existing and projected experiments. The sensitivity to light dark matter through scattering reaches well below the dark matter relic density limits in the range from a few MeV/c2\documentclass[12pt]{minimal} \usepackage{amsmath} \usepackage{wasysym} \usepackage{amsfonts} \usepackage{amssymb} \usepackage{amsbsy} \usepackage{mathrsfs} \usepackage{upgreek} \setlength{\oddsidemargin}{-69pt} \begin{document}$${\mathrm {\,MeV\!/}c<^>2}$$\end{document} up to 100 MeV-scale masses, and it will be possible to study tau neutrino interactions with unprecedented statistics. This paper describes the SHiP experiment baseline setup and the detector systems, together with performance results from prototypes in test beams, as it was prepared for the 2020 Update of the European Strategy for Particle Physics. The expected detector performance from simulation is summarised at the end.
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| 10. |
- Ahdida, C., et al.
(författare)
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Track reconstruction and matching between emulsion and silicon pixel detectors for the SHiP-charm experiment
- 2022
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Ingår i: Journal of Instrumentation. - : IOP Publishing. - 1748-0221. ; 17:3
-
Tidskriftsartikel (refereegranskat)abstract
- In July 2018 an optimization run for the proposed charm cross section measurement for SHiP was performed at the CERN SPS. A heavy, moving target instrumented with nuclear emulsion films followed by a silicon pixel tracker was installed in front of the Goliath magnet at the H4 proton beam-line. Behind the magnet, scintillating-fibre, drift-tube and RPC detectors were placed. The purpose of this run was to validate the measurement's feasibility, to develop the required analysis tools and fine-tune the detector layout. In this paper, we present the track reconstruction in the pixel tracker and the track matching with the moving emulsion detector. The pixel detector performed as expected and it is shown that, after proper alignment, a vertex matching rate of 87% is achieved.
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| 11. |
- Lindström, Björn, et al.
(författare)
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Machine Protection Experience from Beam Tests with Crab Cavity Prototypes in the CERN SPS
- 2019
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Ingår i: 10th International Particle Accelerator Conference. - : IOP Publishing.
-
Konferensbidrag (refereegranskat)abstract
- Crab cavities (CCs) constitute a key component of the High Luminosity LHC (HL-LHC) project. In case of a failure, they can induce significant transverse beam offsets within tens of microseconds, necessitating a fast removal of the circulating beam to avoid damage to accelerator components due to losses from the displaced beam halo. In preparation for the final design to be employed in the LHC, a series of tests were conducted on prototype crab cavities installed in the Super Proton Synchrotron (SPS) at CERN. This paper summarizes the machine protection requirements and observations during the first tests of crab cavities with proton beams in the SPS. In addition, the machine protection implications for future SPS tests and for the use of such equipment in the HL-LHC are discussed.
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| 12. |
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| 13. |
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| 14. |
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| 15. |
- Mc Conville, Jennifer R, 1978, et al.
(författare)
-
Assessing the potential to use serious gaming in planning processes for sanitation designed for resource recovery
- 2023
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Ingår i: Environmental Science and Policy. - 1873-6416 .- 1462-9011. ; 145, s. 262-274
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Tidskriftsartikel (refereegranskat)abstract
- There is an urgent need for innovations in the sanitation sector to minimize environmental impacts and maximize resource recovery. Uptake of innovations may require changes in established technical practices, organisational norms and/or individual behaviours. Achieving change in any of these areas requires influencing cognitive, normative and relational learning processes. Serious games have been identified a potential tool for planners and environmental managers to influence such learning processes. This study designed the serious game RECLAIM to share knowledge about resource recovery from sanitation and to support attitude-change and collaboration between players. A structured framework was applied to assess if the game: 1) increased understanding of resource recovery (cognitive learning), 2) changed worldviews (normative learning), 3) led to more collaboration (relational learning), and 4) was a positive experience. Proof-of-concept testing of the game in Uganda found that it was positively received. The game provided cognitive learning on environmental and health impacts, resource recovery, and sanitation in general. Players gained an appreciation of the need for collaboration and it was deemed to have the potential to influence worldviews of a larger stakeholder group. Future recommendations include embedding the game in planning processes, including several gaming sessions that would strengthen cognition learning and the potential for changing practices.
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| 16. |
- Mc Conville, Jennifer R, 1978, et al.
(författare)
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Bridging sanitation engineering and planning: theory and practice in Burkina Faso
- 2011
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Ingår i: Journal of Water Sanitation and Hygiene for Development. - : IWA Publishing. - 2043-9083 .- 2408-9362. ; 1:3, s. 205-212
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Tidskriftsartikel (refereegranskat)abstract
- The global challenge of providing sanitation services to the un-served underlines a need to change the way in which sanitation planning and service provision is approached. This paper offers a framework for categorizing sanitation projects planning processes based on planning steps and procedural planning theory to help engineers and sanitation planners gain a deeper understanding of the dynamics of these processes. The analysis identifies and discusses trends in both guidelines and actual sanitation programs. The results show that contemporary sanitation planning guidelines and field projects utilize patchwork processes of different planning modes, although the step of designing options is dominated by an expert-driven, rational-comprehensive approach. The use of planning theory can help engineers to ask critical questions about the objectives of the planning process and to develop context-appropriate planning processes that will make a difference for improving sanitation service provision.
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| 17. |
- Mc Conville, Jennifer R, 1978, et al.
(författare)
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Participation in Sanitation Planning in Burkina Faso: Theory and Practice
- 2012
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Ingår i: IWA Young Water Professionals Conference, 10-13 July 2012 Budapest, Hungary.
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Konferensbidrag (refereegranskat)abstract
- Stakeholder participation is commonly promoted as a means to boost outcomes of sanitation improvement projects, in particular in developing countries. However, there is little research on when or how this participation should occur during the process of planning and implementing a sanitation system in order to maximize the effect. This study develops a framework for analysing participation levels of different stakeholders throughout a planning process and applies it to sanitation planning guidelines and case studies from Burkina Faso. This analysis highlights that, particularly during designing of system options and selecting among these options, there exist potential weaknesses regarding who participates and how that participation may influence what type of sanitation is implemented.
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| 18. |
- Mc Conville, Jennifer R, 1978, et al.
(författare)
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Participation in sanitation planning in Burkina Faso: theory and practice
- 2014
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Ingår i: Journal of Water Sanitation and Hygiene for Development. - : IWA Publishing. - 2043-9083 .- 2408-9362. ; 4:2, s. 304-312
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Tidskriftsartikel (refereegranskat)abstract
- Stakeholder participation is commonly promoted as a means to boost outcomes of sanitation improvement projects, in particular in developing countries. However, there is little research on when or how this participation should occur during the process of planning a sanitation system in order to maximize the effect. This study develops a framework for analysing participation levels of different stakeholders throughout a planning process and applies it to sanitation planning guidelines and case studies from Burkina Faso. This analysis highlights that, particularly during designing of system options and selecting among these options, there exist potential weaknesses regarding who participates and how that participation may influence what type of sanitation is implemented.
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| 19. |
- Mc Conville, Jennifer R, 1978, et al.
(författare)
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‘Perceptions of Local Sustainability in Planning Sanitation Projects in West Africa’
- 2010
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Ingår i: Vliet, B., Spaargaren, G., & Oosterveer, P (eds). Social Perspectives on the Sanitation Challenge. Springer: Dordrecht, The Netherlands..
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Bokkapitel (övrigt vetenskapligt/konstnärligt)abstract
- The purpose of this study was to examine local perceptions of sustainability in the context of sanitation interventions in Burkina Faso and Mali, West Africa. A series of interviews with local actors were used to define criteria for sustainable sanitation in the local context. These local criteria were compared with criteria found in international literature and planning practices used in two sanitation projects. The results from the interview study emphasize criteria related to behaviour change processes, while criteria in literature are either oriented toward technical assessments or project guidelines. The case studies show an attempt to merge academic and pragmatic perspectives by addressing both the technical requirements and social change processes. As we seek to improve results within the sector it is important to start reflecting on what criteria and sustainability definitions are used in specific approaches.
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| 20. |
- Mc Conville, Jennifer R, 1978, et al.
(författare)
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Perceptions of Local Sustainability in Planning Sanitation Projects in West Africa
- 2008
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Ingår i: The Sanititation Challenge Conference. May 19-21, 2008, Wageningen.
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Konferensbidrag (refereegranskat)abstract
- The purpose of this study was to examine local perceptions of sustainability in the context of sanitation interventions in Burkina Faso and Mali, West Africa. A series of interviews with local actors were used to define criteria for sustainable sanitation in the local context. These local criteria were compared with criteria found in international literature and planning practices used in two sanitation projects. The results from the interview study emphasize criteria related to behaviour change processes, while criteria in literature are either technically and best-practice oriented. The case studies show an attempt to merge academic and pragmatic perspectives by addressing both the technical requirements and social change processes, however challenges still remain for balancing the various criteria and achieving lasting sanitation improvements.
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| 21. |
- Mc Conville, Jennifer R, 1978, et al.
(författare)
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Using role-playing games to broaden engineering education
- 2017
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Ingår i: International Journal of Sustainability in Higher Education. - 1467-6370. ; 18:4, s. 594-607
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Tidskriftsartikel (refereegranskat)abstract
- Purpose – In today’s complex society, there is an increasing demand to include a wider set of skills in engineering curricula, especially skills related to policy, society and sustainable development. Role-playing and gaming are active learning tools, which are useful for learning relationships between technology and society, problem solving in complex situations and communication. However, use of these learning methods in higher education, and in engineering particularly, is limited. The purpose of this study was to test the effectiveness of a role-playing game for learning about complexities related to sustainable water and sanitation management within a civil engineering curriculum.Design/methodology/approach – The game has been used during three consecutive years in a Masters’ level course. Surveys and course evaluations were used to evaluate the effectiveness of this method from both teacher and student perspectives.Findings – The results show that students gained knowledge on complex subjects, and both teachers and students had positive experiences. Better integration of the game within the rest of the course could strengthen its effectiveness.Originality/value – The experiences gained from this study should assist others in the development and use of such active learning techniques in higher education.
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| 22. |
- McConville, Jennifer R., et al.
(författare)
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Perceptions of Local Sustainability in Planning Sanitation Projects in West Africa
- 2010
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Ingår i: Social perspectives on the sanitation challenge. - Dordrecht : Springer Nature. ; , s. 105-124
-
Konferensbidrag (refereegranskat)abstract
- The purpose of this study was to examine local perceptions of sustainability in the context of sanitation interventions in Burkina Faso and Mali, West Africa. Through a series of interviews with local actors criteria for sustainable sanitation were defined in the local context. These local criteria were compared with criteria found in international literature and planning practices used in two sanitation projects. The results from the interviews emphasize criteria related to behaviour change processes, while criteria in literature are either oriented toward technical assessments or project guidelines. The case studies show an attempt to merge academic and pragmatic perspectives by addressing both the technical requirements and processes of social change. As we seek to improve results within the sector it is important to start reflecting on what criteria and sustainability definitions are used in specific approaches.
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| 23. |
- Norström, Anna, 1971, et al.
(författare)
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The complexity of water and sanitation provision in peri-urban areas in developing countries: the example of Adenta, Ghana
- 2009
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Ingår i: Vatten. ; 65, s. 237-245
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Tidskriftsartikel (refereegranskat)abstract
- Urbanisation and population growth are increasing the pressures on cities, resulting in people living without adequate provision of water and sanitation. This is particularly the case in peri-urban areas surrounding urban centres in the developing world, where expansion of infrastructure cannot keep pace with rapid urbanization. The problem is accentuated by peri-urban areas falling between the different administrative divisions and legislative systems for urban and rural areas. In Adenta, Ghana, a mix of different solutions for water and sanitation provision is presently used. This article presents the current situation in Adenta, and the challenges and dynamics in service provision as seen by stakeholders representing assembly officers, assembly members and service providers. Further, it discusses several critical issues for a municipal administration, faced with rapid urbanization and a population that in many areas is still under-served with respect to water and sanitation. Finally, an integrated and systemic multi-pronged approach to service delivery is outlined, aiming to resolve what should be the priority areas; how to increase service delivery; where to start; and who should take action. Additionally, the role of the interconnectedness of technical, social, financial and behavioural systems, as well as the need for appropriate timing, is highlighted.
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| 24. |
- Serwas, NK, et al.
(författare)
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Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis
- 2019
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Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 3106-
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Tidskriftsartikel (refereegranskat)abstract
- Immune responses need to be controlled tightly to prevent autoimmune diseases, yet underlying molecular mechanisms remain partially understood. Here, we identify biallelic mutations in three patients from two unrelated families in differentially expressed in FDCP6 homolog (DEF6) as the molecular cause of an inborn error of immunity with systemic autoimmunity. Patient T cells exhibit impaired regulation of CTLA-4 surface trafficking associated with reduced functional CTLA-4 availability, which is replicated in DEF6-knockout Jurkat cells. Mechanistically, we identify the small GTPase RAB11 as an interactor of the guanine nucleotide exchange factor DEF6, and find disrupted binding of mutant DEF6 to RAB11 as well as reduced RAB11+CTLA-4+ vesicles in DEF6-mutated cells. One of the patients has been treated with CTLA-4-Ig and achieved sustained remission. Collectively, we uncover DEF6 as player in immune homeostasis ensuring availability of the checkpoint protein CTLA-4 at T-cell surface, identifying a potential target for autoimmune and/or cancer therapy.
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| 25. |
- Serwas, N. K., et al.
(författare)
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CEBPE-mutant specific granule deficiency correlates with aberrant granule organization and substantial proteome alterations in neutrophils
- 2018
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Ingår i: Frontiers in Immunology. - : Frontiers Media SA. - 1664-3224. ; 9:MAR
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Tidskriftsartikel (refereegranskat)abstract
- Specific granule deficiency (SGD) is a rare disorder characterized by abnormal neutrophils evidenced by reduced granules, absence of granule proteins, and atypical bilobed nuclei. Mutations in CCAAT/enhancer-binding protein-e (CEBPE) are one molecular etiology of the disease. Although C/EBPe has been studied extensively, the impact of CEBPE mutations on neutrophil biology remains elusive. Here, we identified two SGD patients bearing a previously described heterozygous mutation (p.Val218Ala) in CEBPE. We took this rare opportunity to characterize SGD neutrophils in terms of granule distribution and protein content. Granules of patient neutrophils were clustered and polarized, suggesting that not only absence of specific granules but also defects affecting other granules contribute to the phenotype. Our analysis showed that remaining granules displayed mixed protein content and lacked several glycoepitopes. To further elucidate the impact of mutant CEBPE, we performed detailed proteomic analysis of SGD neutrophils. Beside an absence of several granule proteins in patient cells, we observed increased expression of members of the linker of nucleoskeleton and cytoskeleton complex (nesprin-2, vimentin, and lamin-B2), which control nuclear shape. This suggests that absence of these proteins in healthy individuals might be responsible for segmented shapes of neutrophilic nuclei. We further show that the heterozygous mutation p.Val218Ala in CEBPE causes SGD through prevention of nuclear localization of the protein product. In conclusion, we uncover that absence of nuclear C/EBPe impacts on spatiotemporal expression and subsequent distribution of several granule proteins and further on expression of proteins controlling nuclear shape. © 2018 Serwas, Huemer, Dieckmann, Mejstrikova, Garncarz, Litzman, Hoeger, Zapletal, Janda, Bennett, Kain, Kerjaschky and Boztug.
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