| 1. |
- Aad, G, et al.
(författare)
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- 2015
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swepub:Mat__t
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| 2. |
- Sliz, E., et al.
(författare)
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Evidence of a causal effect of genetic tendency to gain muscle mass on uterine leiomyomata
- 2023
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 14:1
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Tidskriftsartikel (refereegranskat)abstract
- Uterine leiomyomata (UL) are the most common tumours of the female genital tract and the primary cause of surgical removal of the uterus. Genetic factors contribute to UL susceptibility. To add understanding to the heritable genetic risk factors, we conduct a genome-wide association study (GWAS) of UL in up to 426,558 European women from FinnGen and a previous UL meta-GWAS. In addition to the 50 known UL loci, we identify 22 loci that have not been associated with UL in prior studies. UL-associated loci harbour genes enriched for development, growth, and cellular senescence. Of particular interest are the smooth muscle cell differentiation and proliferation-regulating genes functioning on the myocardin-cyclin dependent kinase inhibitor 1A pathway. Our results further suggest that genetic predisposition to increased fat-free mass may be causally related to higher UL risk, underscoring the involvement of altered muscle tissue biology in UL pathophysiology. Overall, our findings add to the understanding of the genetic pathways underlying UL, which may aid in developing novel therapeutics.
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| 3. |
- Tabassum, R, et al.
(författare)
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Genetic architecture of human plasma lipidome and its link to cardiovascular disease
- 2019
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Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 4329-
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Tidskriftsartikel (refereegranskat)abstract
- Understanding genetic architecture of plasma lipidome could provide better insights into lipid metabolism and its link to cardiovascular diseases (CVDs). Here, we perform genome-wide association analyses of 141 lipid species (n = 2,181 individuals), followed by phenome-wide scans with 25 CVD related phenotypes (n = 511,700 individuals). We identify 35 lipid-species-associated loci (P <5 ×10−8), 10 of which associate with CVD risk including five new loci-COL5A1, GLTPD2, SPTLC3, MBOAT7 and GALNT16 (false discovery rate<0.05). We identify loci for lipid species that are shown to predict CVD e.g., SPTLC3 for CER(d18:1/24:1). We show that lipoprotein lipase (LPL) may more efficiently hydrolyze medium length triacylglycerides (TAGs) than others. Polyunsaturated lipids have highest heritability and genetic correlations, suggesting considerable genetic regulation at fatty acids levels. We find low genetic correlations between traditional lipids and lipid species. Our results show that lipidomic profiles capture information beyond traditional lipids and identify genetic variants modifying lipid levels and risk of CVD.
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| 4. |
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| 5. |
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| 6. |
- House, J, et al.
(författare)
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Climate and air quality
- 2006
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Ingår i: Millennium Ecosystem Assessment 2005 - Current State and Trends. Findings of the Condition and Trends Working Group (Ecosystems and Human Well-being). ; 1, s. 350-390
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Bokkapitel (övrigt vetenskapligt/konstnärligt)
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| 7. |
- Ameen, Carly, et al.
(författare)
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Specialized sledge dogs accompanied Inuit dispersal across the North American Arctic
- 2019
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Ingår i: Proceedings of the Royal Society of London. Biological Sciences. - : The Royal Society. - 0962-8452 .- 1471-2954. ; 286:1916
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Tidskriftsartikel (refereegranskat)abstract
- Domestic dogs have been central to life in the North American Arctic for millennia. The ancestors of the Inuit were the first to introduce the widespread usage of dog sledge transportation technology to the Americas, but whether the Inuit adopted local Palaeo-Inuit dogs or introduced a new dog population to the region remains unknown. To test these hypotheses, we generated mitochondrial DNA and geometric morphometric data of skull and dental elements from a total of 922 North American Arctic dogs and wolves spanning over 4500 years. Our analyses revealed that dogs from Inuit sites dating from 2000 BP possess morphological and genetic signatures that distinguish them from earlier Palaeo-Inuit dogs, and identified a novel mitochondrial clade in eastern Siberia and Alaska. The genetic legacy of these Inuit dogs survives today in modern Arctic sledge dogs despite phenotypic differences between archaeological and modern Arctic dogs. Together, our data reveal that Inuit dogs derive from a secondary pre-contact migration of dogs distinct from Palaeo-Inuit dogs, and probably aided the Inuit expansion across the North American Arctic beginning around 1000 BP.
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| 8. |
- Betts, Marissa J., et al.
(författare)
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A new early Cambrian bradoriid (Arthropoda) assemblage from the northern Flinders Ranges, South Australia
- 2014
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Ingår i: Gondwana Research. - : Elsevier BV. - 1342-937X .- 1878-0571. ; 25, s. 420-437
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Tidskriftsartikel (refereegranskat)abstract
- A new assemblage of early Cambrian bivalved arthropods (Bradoriida) is described from the Arrowie Syncline in the northern Flinders Ranges, South Australia. The well preserved, largely endemic fauna comprises a total of six taxa (including five new species): Jiucunella phaseloa sp. nov., Jixinlingella daimonikoa sp. nov., Mongolitubulus anthelios sp. nov., Neokunmingella moroensis sp. nov., Phasoia cf. spicata ( Öpik, 1968), and Sinskolutella cuspidata sp. nov. This assemblage is derived from a carbonate sedimentary package representing a high energy, shallow water archaeocyath-Renalcis biohermal facies of Terreneuvian, Stage 2 age which transitions up-section to a more restricted, low energy, intra-shelf lagoonal environment that correlates with a Cambrian Series 2, Stage 3 age. The new taxon J. phaseloa sp. nov., has a first appearance datum (FAD) in shallow water biohermal facies of the Hideaway Well Member of the Wilkawillina Limestone at a level 47 m below the FAD of Pelagiella subangulata which is taken to approximate the base of Series 2, Stage 3 in South Australia. Along with Liangshanella circumbolina, this makes J. phaseloa sp. nov. amongst the oldest bivalved arthropods in South Australia and potentially greater Gondwana. The presence of 25 bradoriid taxa from the early Cambrian of South Australia suggests East Gondwana represents a major centre of origin for the Bradoriida.
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| 9. |
- Betts, Marissa, J., et al.
(författare)
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A new lower Cambrian shelly fossil biostratigraphy for South Australia
- 2016
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Ingår i: Gondwana Research. - : Elsevier BV. - 1342-937X .- 1878-0571. ; 36, s. 163-195
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Tidskriftsartikel (refereegranskat)abstract
- Definition of early Cambrian chronostratigraphic boundaries is problematic with many subdivisions stillawaiting ratification. Integrated multi-proxy data from well-resolved regional-scale schemes are ultimately the key to resolving broader issues of global correlationwithin the Cambrian. In Australia, early Cambrian biostratigraphy has been based predominantly on trilobites. Phosphatic shelly fauna have great potential as biostratigraphic tools, especially in pre-trilobitic strata because they are widespread and readily preserved, but they have remained underutilised. Here we demonstrate their value in a new biostratigraphic scheme for the early Cambrian of South Australia using a diverse shelly fauna including tommotiids, brachiopods, molluscs and bradoriids. Biostratigraphic data are derived from ten measured stratigraphic sections across the Arrowie Basin, targeting Hawker Group carbonates including the Wilkawillina, Wirrapowie and Ajax limestones and the Mernmerna Formation. The stratigraphic ranges of shelly fossils are predictable and repeatable across the Arrowie Basin, allowing three discrete shelly biozones to be identified, spanning Terreneuvian, Stage 2 to Series 2, Stages 3–4. The Kulparina rostrata Zone (new) and part of the overlyingMicrina etheridgei Zone (new) are pre-trilobitic (predominantly Terreneuvian). The Cambrian Series 2, Stage 3 Dailyatia odyssei Zone (new) features a very diverse shelly fauna and will be described in detail in a separate publication. These zones provide robust means to correlate Terreneuvian–Series 2 successions in neighbouring coeval basins in Australia, particularly the Stansbury Basin. Wider correlation is possible throughout East Gondwana, and especially with South China.
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| 10. |
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