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- Tham, Emma, et al.
(author)
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A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.
- 2015
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In: European Journal of Human Genetics. - : Springer Science and Business Media LLC. - 1476-5438 .- 1018-4813.
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Journal article (peer-reviewed)abstract
- A rare lethal autosomal recessive syndrome with skeletal dysplasia, polycystic kidneys and multiple malformations was first described by Gillessen-Kaesbach et al and subsequently by Nishimura et al. The skeletal features uniformly comprise a round pelvis, mesomelic shortening of the upper limbs and defective ossification of the cervical spine. We studied two unrelated families including three affected fetuses with Gillessen-Kaesbach-Nishimura syndrome using whole-exome and Sanger sequencing, comparative genome hybridization and homozygosity mapping. All affected patients were shown to have a novel homozygous splice variant NM_024740.2: c.1173+2T>A in the ALG9 gene, encoding alpha-1,2-mannosyltransferase, involved in the formation of the lipid-linked oligosaccharide precursor of N-glycosylation. RNA analysis demonstrated skipping of exon 10, leading to shorter RNA. Mass spectrometric analysis showed an increase in monoglycosylated transferrin as compared with control tissues, confirming that this is a congenital disorder of glycosylation (CDG). Only three liveborn children with ALG9-CDG have been previously reported, all with missense variants. All three suffered from intellectual disability, muscular hypotonia, microcephaly and renal cysts, but none had skeletal dysplasia. Our study shows that some pathogenic variants in ALG9 can present as a lethal skeletal dysplasia with visceral malformations as the most severe phenotype. The skeletal features overlap with that previously reported for ALG3- and ALG12-CDG, suggesting that this subset of glycosylation disorders constitutes a new diagnostic group of skeletal dysplasias.European Journal of Human Genetics advance online publication, 13 May 2015; doi:10.1038/ejhg.2015.91.
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| 2. |
- Bengtson, Anna, et al.
(author)
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A relationship view of MNCs' innovation management in emerging economies : The Amazon Connection Case
- 2016
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In: International Journal of Business Environment. - : InderScience Publishers. - 1740-0589 .- 1740-0597. ; , s. 65-85
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Journal article (peer-reviewed)abstract
- It is claimed that participation and innovation in emerging economies will set the competitiveness agenda for MNCs in the future. There is currently a need for more knowledge on the peculiarities of innovating in these markets, including the even more profound need for interaction and relationship building between actors from different sectors in society. The aim of this paper is, therefore, to reach a better understanding of the impact of the interaction between various actors, both business and socio-political, for the innovative performance of MNCs in emerging markets. We apply a business network view of innovation including business relationships in general and relationships to civil society actors in particular, using the relational concepts of trust, knowledge and cultural compatibility to analyse the process at hand. A case study was conducted of the MNC-led project 'Amazon Connection', which enabled connectivity in the distant Amazonian region of Para, Brazil.
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| 6. |
- Bengtson, Anna, 1968-, et al.
(author)
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Managing relationship development and crises in emerging markets : A Swedish firm´s relationship behaviour in Argentina
- 2012
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In: New Policy Challanges for European Multinationals. - : Emerald Group Publishing Limited. - 9781781900208 - 9781781900215 ; , s. 421-442
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Book chapter (peer-reviewed)abstract
- Purpose – Researchers rarely touch on the phenomenon of crisis in the relationship itself combined with relationship conflict caused by turbulence in the relationship environment – specifically for emerging markets. The aim of this study is to develop a theoretical view for studying how firms manage business relationships when facing crises caused both by involved parties and by contextual factors.Design/methodology/approach – Based on a business network perspective, the paper develops a relationship view stressing trust/distrust, commitment/de-commitment and uncertainty/knowledge as central explanatory relationship elements. The paper employs longitudinal case study method and discusses how the relationship between the Swedish firm Ericsson and Telefónica in Argentina for the period of 1998–2004. The process view is composed of three phases: the start-up phase, a phase of crisis and instability and finally a phase of restoration.Findings/originality – With the assumption of extensiveness in relationship development and high risk in falling from conflict into critical problems in emerging markets, the paper has elaborated new theoretical and empirical thoughts. The study gains further strength from the fact that the number and intensity of crises is increasing because of the escalation in global interdependency. It contributes further knowledge on strategy decisions like exit, wait and see, take the risk and advance affecting the firms’ business relationship.
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| 7. |
- Bengtson, Anna, et al.
(author)
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Managing stability and crises in business relationships : The case of Ericsson in an emerging market
- 2013
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In: European Business Review. - : Emerald Group Publishing Limited. - 0955-534X .- 1758-7107. ; 25:6, s. 518-535
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Journal article (peer-reviewed)abstract
- Purpose – Adding to the theoretical view of relationship development, this paper holds the view that relationship change encompasses not only smooth incremental change but also includes crises which can trigger relationship weakening, dissolution and/or recovery. The aim is to develop a theoretical view that allows understanding of both smooth incremental and critical changes in the process of relationship development.Design/methodology/approach – Based on a business network perspective, the paper's relationship view holds uncertainty, commitment and trust as central explanatory elements. The process view is composed of three episodes: incremental relationship development; relationship crisis; and ending or survival. The paper employs a longitudinal case study method and discusses how the relationship between the Swedish firm, Ericsson, and its counterpart, Telefónica, develops in the emerging market of Argentina during the period of 1998-2004. Findings – Conclusions demonstrate the vulnerability of relationships due to counterparts' behaviour and network embeddedness. This is a risk of commitment deterioration, and remedial actions like investment in new commitments will reduce distrust and uncertainty. Re-energizing relationships incrementally requires behaviour like waiting strategies, when otherwise the choice is to exit.Originality/value – Few researchers have combined the findings from stable relationship development studies with the findings from research on crisis into one model handling both stability and instability in business relationships. This is despite the fact that episodes of turbulence and instability are becoming more common in business relationships, due to entrance into more unstable markets, and markets crises of various types.
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| 8. |
- Ivarsson, Magnus, et al.
(author)
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Anaerobic fungi: a potential source of biological H2 in the oceanic crust.
- 2016
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In: Frontiers in Microbiology. - : Frontiers Media SA. - 1664-302X. ; 7:674, s. 1-8
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Journal article (peer-reviewed)abstract
- The recent recognition of fungi in the oceanic igneous crust challenges the understanding of this environment as being exclusively prokaryotic and forces reconsiderations of the ecology of the deep biosphere. Anoxic provinces in the igneous crust are abundant and increase with age and depth of the crust. The presence of anaerobic fungi in deep-sea sediments and on the seafloor introduces a type of organism with attributes of geobiological significance not previously accounted for. Anaerobic fungi are best known from the rumen of herbivores where they produce molecular hydrogen, which in turn stimulates the growth of methanogens. The symbiotic cooperation between anaerobic fungi and methanogens in the rumen enhance the metabolic rate and growth of both. Methanogens and other hydrogen-consuming anaerobic archaea are known from subseafloor basalt; however, the abiotic production of hydrogen is questioned to be sufficient to support such communities. Alternatively, biologically produced hydrogen could serve as a continuous source. Here, we propose anaerobic fungi as a source of bioavailable hydrogen in the oceanic crust, and a close interplay between anaerobic fungi and hydrogen-driven prokaryotes.
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| 10. |
- Ljung, Anna, 1978-, et al.
(author)
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Innovation Through Business and NGO Co-operation : The Case of Digital Inclusion in the Amazon
- 2012
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In: Business, Society and Politics. - : Emerald Group Publishing Limited. - 9781780529905 - 9781780529912 ; , s. 281-301
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Book chapter (other academic/artistic)abstract
- Based on the findings in earlier research of the importance of relationships in general, and relationships to social actors in particular to explain innovation processes in emerging economies, the aim of the paper is to reach a better understanding of the mechanisms behind innovations in these economies. This has been accomplished through an investigation of an innovation process and the relationships between two business firms and a NGO that were central for its progression. Theoretically the study is constructed on the concepts of trust, commitment and cultural capability in long and short-term relationships as discussed in business network theory and theory on discontinuous innovation. A case study method is used and the social innovation project ‘Connexão Belterra’ that enabled connectivity in the distant Amazon region of Pará, Brazil, was investigated.
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