Sökresultat

Filtyp

Din sökning på "*" gav 550436 sökträffar

Development of genetic counseling in Sweden 1950-1980

The development of genetic counseling in Sweden in the field of medical genetics emerged in the 1950s, at the department of medical genetics at Uppsala University. The head of department, Jan Arvid Böök, a member of the WHO expert committee on Human Genetics, early realized the importance of studies in broadly distributed genetic diseases, along with genetic counseling. In the 1950s, at the same tThe development of genetic counseling in Sweden in the field of medical genetics emerged in the 1950s, at the department of medical genetics at Uppsala University. The head of department, Jan Arvid Böök, a member of the WHO expert committee on Human Genetics, early realized the importance of studies in broadly distributed genetic diseases, along with genetic counseling. In the 1950s, at the same t

Why do dogs play? Function and welfare implications of play in the domestic dog

Play is an enigmatic behaviour, the function of which is still debated, despite more than a century of research. We discuss the evolutionary function of play behaviour, focusing on the domestic dog (Canis familiaris), a unique species due to its past domestication and current cohabitation with humans. The ultimate function of play in dogs is explored through four main theories: 1) developing motor

The role of regional context on innovation persistency of firms

This paper analyses the role of regional context on innovation persistency of firms. Using the Community Innovation Survey in Sweden, we have traced firms' innovative behaviour from 2002 to 2012, in terms of four Schumpeterian types of innovation: product, process, organizational, and marketing. Controlling for an extensive set of firm-level characteristics, we find that certain regional character

Binding patterns of BCL11A in the globin and GATA1 loci and characterization of the BCL11A fetal hemoglobin locus

BCL11A is a major regulator of fetal hemoglobin production. Reduced levels of BCL11A have been shown to delay switching from fetal to adult hemoglobin, suggesting that it acts as a stage-specific repressor of gamma globin expression. We have carried out a survey of BCL11A binding in the globin, BCL11A and GATA1 loci by ChIP-on-chip analysis in primary human erythroid cells. We found strong occupan

Intergenic variants of HBS1L-MYB are responsible for a major quantitative trait locus on chromosome 6q23 influencing fetal hemoglobin levels in adults

Individual variation in fetal hemoglobin (HbF, alpha(2)gamma(2)) response underlies the remarkable diversity in phenotypic severity of sickle cell disease and beta thalassemia. HbF levels and HbF-associated quantitative traits (e.g., F cell levels) are highly heritable. We have previously mapped a major quantitative trait locus (QTL) controlling F cell levels in an extended Asian-Indian kindred wi

The HBS1L-MYB intergenic interval associated with elevated HbF levels shows characteristics of a distal regulatory region in erythroid cells

HBS1L-MYB intergenic polymorphism (HMIP) on chromosome 6q23 is associated with elevated fetal hemoglobin levels and has pleiotropic effects on several hematologic parameters. To investigate potential regulatory activity in the region, we have measured sensitivity of the sequences to DNase I cleavage that identified 3 tissue-specific DNase I hypersensitive sites in the core intergenic interval. Chr

Balancing Potential and Risk: The Living Lab Approach in Mobile Participation Research

Living labs as a research approach have been said to hold many promises regarding the evaluation of state-of-the art technologies in real-world contexts, for instance by allowing close cooperation with various stakeholders. At the same time, a living lab approach is connected with substantial complexity and increased risk. This paper elaborates on a conducted living lab with the objective to explo

An alternative biomarker-based approach for the prediction of proteins known to sensitize the respiratory tract

Many natural and industrial proteins are known to have properties that can result in type I hypersensitivity, however, to date, no validated test system exists that can predict the sensitizing potential of these allergens. Thus, the objective of this study was to develop a protocol based on the myeloid cell-based Genomic Allergen Rapid Detection (GARD) assay that can be used to assess and predict

Laser diagnostics and chemical kinetic analysis of PAHs and soot in co-flow partially premixed flames using diesel surrogate and oxygenated additives of n-butanol and DMF

Effects of oxygenated fuels on soot reduction strongly depend on the base fuel. Interesting candidates from oxygenated fuels in this respect include both n-butanol and 2,5-dimethylfuran (DMF), because they have already been used in diesel engines recently. However, information is rather limited on n-butanol and DMF added into a diesel fuel surrogate in fundamental flames to investigate the mechani