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- 2019
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Tidskriftsartikel (refereegranskat)
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- Pattaro, Cristian, et al.
(författare)
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Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function
- 2016
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 7
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Tidskriftsartikel (refereegranskat)abstract
- Reduced glomerular filtration rate defines chronic kidney disease and is associated with cardiovascular and all-cause mortality. We conducted a meta-analysis of genome-wide association studies for estimated glomerular filtration rate (eGFR), combining data across 133,413 individuals with replication in up to 42,166 individuals. We identify 24 new and confirm 29 previously identified loci. Of these 53 loci, 19 associate with eGFR among individuals with diabetes. Using bioinformatics, we show that identified genes at eGFR loci are enriched for expression in kidney tissues and in pathways relevant for kidney development and transmembrane transporter activity, kidney structure, and regulation of glucose metabolism. Chromatin state mapping and DNase I hypersensitivity analyses across adult tissues demonstrate preferential mapping of associated variants to regulatory regions in kidney but not extra-renal tissues. These findings suggest that genetic determinants of eGFR are mediated largely through direct effects within the kidney and highlight important cell types and biological pathways.
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- Chu, Audrey Y, et al.
(författare)
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Multiethnic genome-wide meta-analysis of ectopic fat depots identifies loci associated with adipocyte development and differentiation
- 2017
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 49:1, s. 125-130
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Tidskriftsartikel (refereegranskat)abstract
- Variation in body fat distribution contributes to the metabolic sequelae of obesity. The genetic determinants of body fat distribution are poorly understood. The goal of this study was to gain new insights into the underlying genetics of body fat distribution by conducting sample-size-weighted fixed-effects genome-wide association meta-analyses in up to 9,594 women and 8,738 men of European, African, Hispanic and Chinese ancestry, with and without sex stratification, for six traits associated with ectopic fat (hereinafter referred to as ectopic-fat traits). In total, we identified seven new loci associated with ectopic-fat traits (ATXN1, UBE2E2, EBF1, RREB1, GSDMB, GRAMD3 and ENSA; P < 5 × 10(-8); false discovery rate < 1%). Functional analysis of these genes showed that loss of function of either Atxn1 or Ube2e2 in primary mouse adipose progenitor cells impaired adipocyte differentiation, suggesting physiological roles for ATXN1 and UBE2E2 in adipogenesis. Future studies are necessary to further explore the mechanisms by which these genes affect adipocyte biology and how their perturbations contribute to systemic metabolic disease.
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- Fagrell, Tobias G, et al.
(författare)
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Chemical, mechanical and morphological properties of hypomineralized enamel of permanent first molars.
- 2010
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Ingår i: Acta odontologica Scandinavica. - : Informa UK Limited. - 1502-3850 .- 0001-6357. ; 68:4, s. 215-22
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Tidskriftsartikel (refereegranskat)abstract
- The microstructure of hypomineralized enamel in permanent teeth has been described in several studies as less distinct prism sheaths and disorganized enamel with lack of organization of the enamel crystals. The mechanical properties, hardness and modulus of elasticity of the hypomineralized enamel have lower values compared with normal. The aim of this study was to examine normal and hypomineralized enamel using scanning electron microscopy (SEM), hardness measurements and X-ray microanalysis (XRMA).
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- Fagrell, Tobias G, et al.
(författare)
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Effect of ozone treatment on different cariogenic microorganisms in vitro.
- 2008
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Ingår i: Swedish dental journal. - : Swedish Dental Association. - 0347-9994. ; 32:3, s. 139-47
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Tidskriftsartikel (refereegranskat)abstract
- Ozone treatment has been presented and discussed in the literature, as one of the "new" ways to treat dental caries. The aim of this paper was to study the in vitro effect of ozone on some common oral microorganisms related to dental caries using scanning electron microscopy (SEM). The effect of ozone was tested on three different strains of mutans streptococci and one Lactobacillus strain. After exposure of bacteria to ozone treatment for 0 to 60 sec, cultivation on different chair side strips and agar plates took place. Preparation and performance of scanning electron analyses in a field emission scanning electron microscope at 10 kV was then carried out. It was found that gaseous ozone treatment for 20 seconds or more was effective to kill the different microorganisms in vitro. Treatment of 20, 40 and 60 seconds of ozone prevented the bacteria to grow on the different media. Treatment times shorter than 20 seconds resulted in varying results with a limited effect on bacterial growth for treatments of 5-10 sec, respectively. The difference between ozone-treated and untreated specimens was macroscopically readily discernable. None of the strains treated with ozone for 60 seconds showed any bacterial growth. Only samples with untreated bacteria could be found in the SEM analyses in form of large and high colonies. This study presents a clear result of the bactericide effect of ozon (in vitro) on four different strains of bacteria associated with dental caries.
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- Frantz, Laurent A. F., et al.
(författare)
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Ancient pigs reveal a near-complete genomic turnover following their introduction to Europe
- 2019
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Ingår i: Proceedings of the National Academy of Sciences of the United States of America. - : Proceedings of the National Academy of Sciences. - 0027-8424 .- 1091-6490. ; 116:35, s. 17231-17238
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Tidskriftsartikel (refereegranskat)abstract
- Archaeological evidence indicates that pig domestication had begun by similar to 10,500 y before the present ( BP) in the Near East, and mitochondrial DNA ( mtDNA) suggests that pigs arrived in Europe alongside farmers similar to 8,500 y BP. A few thousand years after the introduction of Near Eastern pigs into Europe, however, their characteristic mtDNA signature disappeared and was replaced by haplotypes associated with European wild boars. This turnover could be accounted for by substantial gene flow from local European wild boars, although it is also possible that European wild boars were domesticated independently without any genetic contribution from the Near East. To test these hypotheses, we obtained mtDNA sequences from 2,099 modern and ancient pig samples and 63 nuclear ancient genomes from Near Eastern and European pigs. Our analyses revealed that European domestic pigs dating from 7,100 to 6,000 y BP possessed both Near Eastern and European nuclear ancestry, while later pigs possessed no more than 4% Near Eastern ancestry, indicating that gene flow from European wild boars resulted in a near-complete disappearance of Near East ancestry. In addition, we demonstrate that a variant at a locus encoding black coat color likely originated in the Near East and persisted in European pigs. Altogether, our results indicate that while pigs were not independently domesticated in Europe, the vast majority of human-mediated selection over the past 5,000 y focused on the genomic fraction derived from the European wild boars, and not on the fraction that was selected by early Neolithic farmers over the first 2,500 y of the domestication process.
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- Heijs, Suzanne C B, et al.
(författare)
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Morphology and chemical composition of dentin in permanent first molars with the diagnose MIH.
- 2007
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Ingår i: Swedish dental journal. - 0347-9994. ; 31:4, s. 155-64
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Tidskriftsartikel (refereegranskat)abstract
- The purpose of this investigation was to study the morphology and distribution of some inorganic elements in dentin in first permanent molars from children with Molar-Incisor Hypomineralization (MIH). Sixty four tooth sections from thirty two children were examined in polarized light. Fifteen representative sections were selected for SEM/XRMA analysis; 5 were used for SEM analysis and 10 for XRMA analysis. No morphological changes in the dentin were revealed in polarized light microscopy (PLM). However, in all but two sections interglobular dentin was found. The SEM analyzes confirmed the findings of the PLM with no structural changes to be found in the dentin. The XRMA results showed a difference in the concentration of elements between dentin below normal and dentin below carious or hypomineralized enamel. Elements related to organic matter appeared with higher values in dentin below hypomineralized and carious enamel. The morphological and chemical findings in dentin below hypomineralized enamel imply that the odontoblasts are not affected in cases of MIH, but may be affected by hypocalcemia, reflected by the presence of interglobular dentin.
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