| 1. |
|
|
| 2. |
- Andersson, Urban, 1965, et al.
(författare)
-
Författaridentifikatorer och publiceringsdatabaser – scenarier och utvecklingsmöjligheter
- 2013
-
Rapport (övrigt vetenskapligt/konstnärligt)abstract
- Syftet med projektet är att ge underlag för att införa författaridentifikatorer i svenska tjänster och system inom vetenskaplig kommunikation. ORCID (Open Researcher and Contributor ID) är en internationell de-facto standard under uppbyggnad med många viktiga aktörer involverade. Implementering av ORCID kräver samverkan mellan flera aktörer, både nationellt och på lärosätena. Projektgruppen lämnar ett antal rekommendationer baserade på de uppgifter som redovisas i rapporten.
|
|
| 3. |
- Asselbergs, Folkert W., et al.
(författare)
-
Large-Scale Gene-Centric Meta-analysis across 32 Studies Identifies Multiple Lipid Loci
- 2012
-
Ingår i: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297. ; 91:5, s. 823-838
-
Tidskriftsartikel (refereegranskat)abstract
- Genome-wide association studies (GWASs) have identified many SNPs underlying variations in plasma-lipid levels. We explore whether additional loci associated with plasma-lipid phenotypes, such as high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), total cholesterol (TC), and triglycerides (TGs), can be identified by a dense gene-centric approach. Our meta-analysis of 32 studies in 66,240 individuals of European ancestry was based on the custom similar to 50,000 SNP genotyping array (the ITMAT-Broad-CARe array) covering similar to 2,000 candidate genes. SNP-lipid associations were replicated either in a cohort comprising an additional 24,736 samples or within the Global Lipid Genetic Consortium. We identified four, six, ten, and four unreported SNPs in established lipid genes for HDL-C, LDL-C, TC, and TGs, respectively. We also identified several lipid-related SNPs in previously unreported genes: DGAT2, HCAR2, GPIHBP1, PPARG, and FTO for HDL-C; SOCS3, APOH, SPTY2D1, BRCA2, and VLDLR for LDL-C; SOCS3, UGT1A1, BRCA2, UBE3B, FCGR2A, CHUK, and INSIG2 for TC; and SERPINF2, C4B, GCK, GATA4, INSR, and LPAL2 for TGs. The proportion of explained phenotypic variance in the subset of studies providing individual-level data was 9.9% for HDL-C, 9.5% for LDL-C, 10.3% for TC, and 8.0% for TGs. This large meta-analysis of lipid phenotypes with the use of a dense gene-centric approach identified multiple SNPs not previously described in established lipid genes and several previously unknown loci. The explained phenotypic variance from this approach was comparable to that from a meta-analysis of GWAS data, suggesting that a focused genotyping approach can further increase the understanding of heritability of plasma lipids.
|
|
| 4. |
- Bah Rösman, Jessica, 1975, et al.
(författare)
-
Further exploration of the possible influence of polymorphisms in HTR2C and 5HTT on body weight.
- 2010
-
Ingår i: Metabolism. - : Elsevier BV. - 0026-0495. ; 59:8, s. 1156-1163
-
Tidskriftsartikel (refereegranskat)abstract
- Receptors of the 5-HT2C subtype are of importance for the influence of serotonin on food intake, and 2 single nucleotide polymorphisms in this gene (HTR2C)-Cys23Ser (rs6318) and -759C>T (rs3813929)-have been reported to be associated with weight and/or antipsychotic-induced weight gain. The present study aimed to replicate these associations; in addition, the 5-HTTLPR polymorphism in the promoter region of the serotonin transporter gene (SLC6A4) was assessed. The polymorphisms were genotyped in subjects recruited from the normal population (n = 510), and possible associations between genotype and body mass index (BMI) were assessed. The Ser23 allele was more common in underweight subjects (BMI <20) than in normal- and overweight (BMI >/=20) subjects (P = .006). The T allele of the -759C/T polymorphism was less common in the overweight group (BMI >/=25) (P = .007). Homozygosity for the short allele of 5-HTTLPR was more frequent in underweight subjects (P = .015). Our results are in agreement with previous studies, suggesting polymorphisms in HTR2C to be associated with body weight, particularly in women; and they also suggest that 5-HTTLPR may influence this phenotype. Further studies on the importance of the investigated genes for eating disorders and drug-induced weight gain are warranted.
|
|
| 5. |
- Böhm, Johann, et al.
(författare)
-
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.
- 2012
-
Ingår i: Human mutation. - : Hindawi Limited. - 1098-1004 .- 1059-7794. ; 33:6, s. 949-59
-
Tidskriftsartikel (refereegranskat)abstract
- Centronuclear myopathy (CNM) is a genetically heterogeneous disorder associated with general skeletal muscle weakness, type I fiber predominance and atrophy, and abnormally centralized nuclei. Autosomal dominant CNM is due to mutations in the large GTPase dynamin 2 (DNM2), a mechanochemical enzyme regulating cytoskeleton and membrane trafficking in cells. To date, 40 families with CNM-related DNM2 mutations have been described, and here we report 60 additional families encompassing a broad genotypic and phenotypic spectrum. In total, 18 different mutations are reported in 100 families and our cohort harbors nine known and four new mutations, including the first splice-site mutation. Genotype-phenotype correlation hypotheses are drawn from the published and new data, and allow an efficient screening strategy for molecular diagnosis. In addition to CNM, dissimilar DNM2 mutations are associated with Charcot-Marie-Tooth (CMT) peripheral neuropathy (CMTD1B and CMT2M), suggesting a tissue-specific impact of the mutations. In this study, we discuss the possible clinical overlap of CNM and CMT, and the biological significance of the respective mutations based on the known functions of dynamin 2 and its protein structure. Defects in membrane trafficking due to DNM2 mutations potentially represent a common pathological mechanism in CNM and CMT.
|
|
| 6. |
- Caroff, Philippe, et al.
(författare)
-
Crystal Phases in III-V Nanowires: From Random Toward Engineered Polytypism
- 2011
-
Ingår i: IEEE Journal of Selected Topics in Quantum Electronics. - 1077-260X. ; 17:4, s. 829-846
-
Tidskriftsartikel (refereegranskat)abstract
- III-V nanowires (NWs) are promising for a wide range of applications, ranging from optics to electronics, energy, and biological sensing. The structural quality of NWs is of paramount importance for the performance of such future NW-based devices. Random structural defects and polytypism occur naturally in semiconductor NWs, but progress both on the theoretical understanding and experimental control have been achieved recently. Here, we review progress towards the realization of perfect wurtzite and zinc-blende phases in III-VNWs, eventually leading to true phase engineering in single NWs.
|
|
| 7. |
- Dick Thelander, Kimberly, et al.
(författare)
-
Control of III-V nanowire crystal structure by growth parameter tuning
- 2010
-
Ingår i: Semiconductor Science and Technology. - : IOP Publishing. - 0268-1242 .- 1361-6641. ; 25:2
-
Tidskriftsartikel (refereegranskat)abstract
- In this work we investigate the variation of the crystal structure of gold-seeded III-V nanowires with growth parameters, in order to gain a cohesive understanding of these effects. We investigate six III-V materials: GaAs, InAs, GaP, InP, GaSb and InSb, over a variation of growth conditions. All six of these materials exhibit a cubic zinc blende structure in bulk, but twin planes and stacking faults, as well as a hexagonal wurtzite structure, are commonly observed in nanowires. Parameters which may affect the crystal structure include growth temperature and pressure, precursor molar fraction and V/III ratio, nanowire diameter and surface density, and impurity atoms. We will focus on temperature, precursor molar fraction and V/III ratio. Our observations are compared to previous reports in the literature of the III-V nanowire crystal structure, and interpreted in terms of existing models. We propose that changes in the crystal structure with growth parameters are directly related to changes in the stable side facets.
|
|
| 8. |
- Dick Thelander, Kimberly, et al.
(författare)
-
Controlling the Abruptness of Axial Heterojunctions in III-V Nanowires: Beyond the Reservoir Effect
- 2012
-
Ingår i: Nano Letters. - : American Chemical Society (ACS). - 1530-6992 .- 1530-6984. ; 12:6, s. 3200-3206
-
Tidskriftsartikel (refereegranskat)abstract
- Heterostructure nanowires have many potential applications due to the avoidance of interface defects by lateral strain relaxation. However, most heterostructure semiconductor nanowires suffer from persistent interface compositional grading, normally attributed to the dissolution of growth species in the common alloy seed particles. Although progress has been made for some material systems, most binary material combinations remain problematic due to the interaction of growth species in the alloy. In this work we investigate the formation of interfaces in InAs-GaAs heterostructures experimentally and theoretically and demonstrate a technique to attain substantially sharper interfaces. We show that by pulsing the Ga source during heterojunction formation, In is pushed out before GaAs growth initiates, greatly reducing In carry-over. This procedure will be directly applicable to any nanowire system with finite nonideal solubility of growth species in the alloy seed particle and greatly improve the applicability of these structures in future devices.
|
|
| 9. |
|
|
| 10. |
|
|
