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Sanfilippo syndrome type B (mucopolysaccharidosis III B) is a rare autosomal recessive disease caused by deficiency of alpha-N-acetylglucosaminidase, one of the enzymes required for the lysosomal degradation of heparan sulfate. The gene for this enzyme, NAGLU, recently was isolated, and several mutations were characterized. We have identified, in amplified exons from nine fibroblast cell lines der
We carried out a multistage genome-wide association study of type 2 diabetes mellitus in Japanese individuals, with a total of 1,612 cases and 1,424 controls and 100,000 SNPs. The most significant association was obtained with SNPs in KCNQ1, and dense mapping within the gene revealed that rs2237892 in intron 15 showed the lowest P value (6.7 x 10(-13), odds ratio (OR) = 1.49). The association of K
This study investigates the growth in global renewable energy use between 2000 and 2014. To identify its main contributors and their geographical distribution, a structural decomposition analysis is applied to global multi-regional input-output tables. A new variant of this type of analysis is developed that introduces energy transition (i.e. the substitution of non-renewable energy by renewable e
Primary purpose of this thesis is to contribute to the currently rather limited academic literature on Asian expatriates in Turkey since this group has recently been growing in number and is expected to grow in the future. The research aims to see commonalities and derive generalizable inferences on advantages and problems of Asian expatriates in Istanbul. 23 semi-structured and mostly personal in
Det teoretiska ramverket för studie var GLOBE-studien, Hofstedes fyra dimensioner och Sveningssons och Alvessons förhållningssätt till ledarskap. Syftet var att undersöka den personliga upplevelsen hos Svenska ledare. Fokus var på hur kulturella faktorer påverkade ledarskapet när ledarna arbetade med ett utländskt team. Sex svenska ledare som hade arbetat med utländska team i USA, Indien, TysklandThe theoretical framework of the present study was the GLOBE study, Hofstede’s four dimensions and Sveningsson’s and Alvesson’s approach to leadership. The purpose was to examine the personal experience of Swedish leaders. The focus was on the influence of cultural factors on the leadership when the leaders worked with a foreign team. Six Swedish leaders who had been working with foreign teams in
Purpose – The purpose of this paper is to explore the nature of brand contract in B2B from two perspectives: the theological and pragmatic.Design/methodology/approach – A review of the branding literature challenges the dominant notion of the brand covenant as a firm driven, unilateral promise, referred to as a theological contract. The study adds to this the pragmatic perspective of a social cont
A number of studies have analysed how multinational enterprises (MNEs) develop appropriate strategies for managing the institutionally different contexts of various markets. However, we still know rather little about how MNEs manage different institutional pressures when they operate in emerging markets. These markets have a higher level of uncertainty as their values and structures undergo change
When engaging in international collaboration, researchers and research institutions have to relate to a great range of differences in legislation, scientific practices, incentive systems, and cultural norms. The research landscape has become even more complex in the last decade, and the gray zones at the intersections of a diverse set of institutional contexts may be used to push boundaries. The f
Multiple tipping points in the Earth system could be triggered when global warming exceeds specific thresholds. However, the degree of their impact on the East Asian hydroclimate remains uncertain due to the lack of quantitative rainfall records. Here we present an ensemble reconstruction of East Asian summer monsoon (EASM) rainfall since the Last Glacial Maximum (LGM) using nine statistical and m
A successful vaccination program depends on secure vaccine storage as well as safe and effective vaccine delivery. An Internet of Things (IoT) based vaccine distribution and monitoring model, which is used to transport and monitor vaccines to locations where they will be properly kept for eventual use, is developed and tested. Coronavirus (COVID-19) was first identified in December 2019 in Wuhan c
