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Träfflista för sökning "WFRF:(Lutz M) ;lar1:(umu)"

Sökning: WFRF:(Lutz M) > Umeå universitet

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1.
  • McKay, James D., et al. (författare)
  • Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes
  • 2017
  • Ingår i: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 49:7, s. 1126-1132
  • Tidskriftsartikel (refereegranskat)abstract
    • Although several lung cancer susceptibility loci have been identified, much of the heritability for lung cancer remains unexplained. Here 14,803 cases and 12,262 controls of European descent were genotyped on the OncoArray and combined with existing data for an aggregated genomewide association study (GWAS) analysis of lung cancer in 29,266 cases and 56,450 controls. We identified 18 susceptibility loci achieving genome-wide significance, including 10 new loci. The new loci highlight the striking heterogeneity in genetic susceptibility across the histological subtypes of lung cancer, with four loci associated with lung cancer overall and six loci associated with lung adenocarcinoma. Gene expression quantitative trait locus (eQTL) analysis in 1,425 normal lung tissue samples highlights RNASET2, SECISBP2L and NRG1 as candidate genes. Other loci include genes such as a cholinergic nicotinic receptor, CHRNA2, and the telomere-related genes OFBC1 and RTEL1. Further exploration of the target genes will continue to provide new insights into the etiology of lung cancer.
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3.
  • Richards, Stephen, et al. (författare)
  • The genome of the model beetle and pest Tribolium castaneum.
  • 2008
  • Ingår i: Nature. - 1476-4687. ; 452:7190, s. 949-55
  • Tidskriftsartikel (refereegranskat)abstract
    • Tribolium castaneum is a representative of earth’s most numerous eukaryotic order, a powerful model organism for the study of generalized insect development, and also an important pest of stored agricultural products. We describe its genome sequence here. This omnivorous beetle has evolved an ability to interact with a diverse chemical environment as evidenced by large expansions in odorant and gustatory receptors, as well as p450 and other detoxification enzymes. Developmental patterns in Tribolium are more representative of other arthropods than those found in Drosophila, a fact represented in gene content and function. For one, Tribolium has retained more ancestral genes involved in cell-cell communication than Drosophila, and some are expressed in the growth zone crucial for axial elongation in short germ development. Systemic RNAi in T. castaneum appears to use mechanisms distinct from those found in C. elegans, but nevertheless offers similar power for the elucidation of gene function and identification of targets for selective insect control.
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4.
  • El Omari, Kamel, et al. (författare)
  • Experimental phasing opportunities for macromolecular crystallography at very long wavelengths
  • 2023
  • Ingår i: Communications Chemistry. - : Nature Publishing Group. - 2399-3669. ; 6:1
  • Tidskriftsartikel (refereegranskat)abstract
    • Despite recent advances in cryo-electron microscopy and artificial intelligence-based model predictions, a significant fraction of structure determinations by macromolecular crystallography still requires experimental phasing, usually by means of single-wavelength anomalous diffraction (SAD) techniques. Most synchrotron beamlines provide highly brilliant beams of X-rays of between 0.7 and 2 Å wavelength. Use of longer wavelengths to access the absorption edges of biologically important lighter atoms such as calcium, potassium, chlorine, sulfur and phosphorus for native-SAD phasing is attractive but technically highly challenging. The long-wavelength beamline I23 at Diamond Light Source overcomes these limitations and extends the accessible wavelength range to λ = 5.9 Å. Here we report 22 macromolecular structures solved in this extended wavelength range, using anomalous scattering from a range of elements which demonstrate the routine feasibility of lighter atom phasing. We suggest that, in light of its advantages, long-wavelength crystallography is a compelling option for experimental phasing.
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5.
  • Hess, Timo, et al. (författare)
  • Dissecting the genetic heterogeneity of gastric cancer
  • 2023
  • Ingår i: EBioMedicine. - : Elsevier. - 2352-3964. ; 92
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Gastric cancer (GC) is clinically heterogenous according to location (cardia/non-cardia) and histopathology (diffuse/intestinal). We aimed to characterize the genetic risk architecture of GC according to its subtypes. Another aim was to examine whether cardia GC and oesophageal adenocarcinoma (OAC) and its precursor lesion Barrett's oesophagus (BO), which are all located at the gastro-oesophageal junction (GOJ), share polygenic risk architecture.Methods: We did a meta-analysis of ten European genome-wide association studies (GWAS) of GC and its subtypes. All patients had a histopathologically confirmed diagnosis of gastric adenocarcinoma. For the identification of risk genes among GWAS loci we did a transcriptome-wide association study (TWAS) and expression quantitative trait locus (eQTL) study from gastric corpus and antrum mucosa. To test whether cardia GC and OAC/BO share genetic aetiology we also used a European GWAS sample with OAC/BO.Findings: Our GWAS consisting of 5816 patients and 10,999 controls highlights the genetic heterogeneity of GC according to its subtypes. We newly identified two and replicated five GC risk loci, all of them with subtype-specific association. The gastric transcriptome data consisting of 361 corpus and 342 antrum mucosa samples revealed that an upregulated expression of MUC1, ANKRD50, PTGER4, and PSCA are plausible GC-pathomechanisms at four GWAS loci. At another risk locus, we found that the blood-group 0 exerts protective effects for non-cardia and diffuse GC, while blood-group A increases risk for both GC subtypes. Furthermore, our GWAS on cardia GC and OAC/BO (10,279 patients, 16,527 controls) showed that both cancer entities share genetic aetiology at the polygenic level and identified two new risk loci on the single-marker level.Interpretation: Our findings show that the pathophysiology of GC is genetically heterogenous according to location and histopathology. Moreover, our findings point to common molecular mechanisms underlying cardia GC and OAC/BO. 
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6.
  • Higelin, Julia, et al. (författare)
  • NEK1 loss-of-function mutation induces DNA damage accumulation in ALS patient-derived motoneurons
  • 2018
  • Ingår i: Stem Cell Research. - : Elsevier. - 1873-5061 .- 1876-7753. ; 30, s. 150-162
  • Tidskriftsartikel (refereegranskat)abstract
    • Mutations in genes coding for proteins involved in DNA damage response (DDR) and repair, such as C9orf72 and FUS (Fused in Sarcoma), are associated with neurodegenerative diseases and lead to amyotrophic lateral sclerosis (ALS). Heterozygous loss-of-function mutations in NEK1 (NIMA-related kinase 1) have also been recently found to cause ALS. NEK1 codes for a multifunctional protein, crucially involved in mitotic checkpoint control and DDR. To resolve pathological alterations associated with NEK1 mutation, we compared hiPSC-derived motoneurons carrying a NEK1 mutation with mutant C9orf72 and wild type neurons at basal level and after DNA damage induction. Motoneurons carrying a C9orf72 mutation exhibited cell specific signs of increased DNA damage. This phenotype was even more severe in NEK1c.2434A>T neurons that showed significantly increased DNA damage at basal level and impaired DDR after induction of DNA damage in an maturation-dependent manner. Our results provide first mechanistic insight in pathophysiological alterations induced by NEK1 mutations and point to a converging pathomechanism of different gene mutations causative for ALS. Therefore, our study contributes to the development of novel therapeutic strategies to reduce DNA damage accumulation in neurodegenerative diseases and ALS.
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7.
  • Blum, Kristin M., 1989-, et al. (författare)
  • Mass fluxes per capita of organic contaminants from on-site sewage treatment facilities
  • 2018
  • Ingår i: Chemosphere. - : Elsevier BV. - 0045-6535 .- 1879-1298. ; :201, s. 864-873
  • Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
    • This study is the first attempt to quantify environmental fluxes per capita of organic contaminants discharged from on-site sewage treatment facilities (OSSFs) in affected recipients. Five sites were monitored around the River Fyris in Sweden: three mainly affected by OSSFs and two mainly affected by municipal sewage treatment plants (STPs). Gas chromatography-mass spectrometry was used to determine environmental concentrations of 30 anthropogenic contaminants, including organophosphorus compounds, rubber and plastic additives, UV stabilizers, fragrances, surfactant ingredients and polycyclic aromatic hydrocarbons. Uni- and multivariate statistical analysis of the most frequently detected contaminants showed that median fluxes per capita of tris(1,3-dichloro-2-propyl) phosphate, tris(1-chloro-2-propyl) phosphate, tris(2-chloroethyl) phosphate, and n-butylbenzene sulfonamide were similar at OSSF and STP sites, but the mass fluxes per capita of tris-(2-butoxyethyl) phosphate, 2-(methylthio)benzothiazole, and galaxolide, were significantly lower (~2 to 3-fold) at OSSF sites than at STP sites (Mann-Whitney, α = 0.05). Differences between these sites were larger in samples collected in summer and autumn than in samples collected in winter. Deviations likely originated from differences in treatment technology and distances between source and sampling sites. Further studies are needed to characterize mass fluxes per capita of contaminants in waters that directly receive discharges from OSSFs.
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8.
  • Blum, Kristin M., et al. (författare)
  • Non-target screening and prioritization of potentially persistent, bioaccumulating and toxic domestic wastewater contaminants and their removal in on-site and large-scale sewage treatment plants
  • 2017
  • Ingår i: Science of the Total Environment. - : Elsevier. - 0048-9697 .- 1879-1026. ; 575, s. 265-275
  • Tidskriftsartikel (refereegranskat)abstract
    • On-site sewage treatment facilities (OSSFs), which are used to reduce nutrient emissions in rural areas, were screened for anthropogenic compounds with two-dimensional gas chromatography–mass spectrometry (GC × GC–MS). The detected compounds were prioritized based on their persistence, bioaccumulation, ecotoxicity, removal efficiency, and concentrations. This comprehensive prioritization strategy, which was used for the first time on OSSF samples, ranked galaxolide, α-tocopheryl acetate, octocrylene, 2,4,7,9-tetramethyl-5-decyn-4,7-diol, several chlorinated organophosphorus flame retardants and linear alkyl benzenes as the most relevant compounds being emitted from OSSFs. Twenty-six target analytes were then selected for further removal efficiency analysis, including compounds from the priority list along with substances from the same chemical classes, and a few reference compounds. We found significantly better removal of two polar contaminants 2,4,7,9-tetramethyl-5-decyn-4,7-diol (p = 0.0003) and tris(2-butoxyethyl) phosphate (p = 0.005) in soil beds, a common type of OSSF in Sweden, compared with conventional sewage treatment plants. We also report median removal efficiencies in OSSFs for compounds not studied in this context before, viz. α-tocopheryl acetate (96%), benzophenone (83%), 2-(methylthio)benzothiazole (64%), 2,4,7,9-tetramethyl-5-decyn-4,7-diol (33%), and a range of organophosphorus flame retardants (19% to 98%). The environmental load of the top prioritized compounds in soil bed effluents were in the thousands of nanogram per liter range, viz. 2,4,7,9-tetramethyl-5-decyn-4,7-diol (3000 ng L− 1), galaxolide (1400 ng L− 1), octocrylene (1200 ng L− 1), and α-tocopheryl acetate (660 ng L− 1).
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9.
  • Blum, Kristin M., et al. (författare)
  • Persistence, mobility and bioavailability of emerging organic contaminants discharged from sewage treatment plants
  • 2018
  • Ingår i: Science of the Total Environment. - : Elsevier. - 0048-9697 .- 1879-1026. ; 612, s. 1532-1542
  • Tidskriftsartikel (refereegranskat)abstract
    • Little is known about the impact of emissions of micropollutants from small and large-scale sewage treatment plants (STPs) on drinking water source areas. We investigated a populated catchment that drains into Lake Malaren, which is the drinking water source for around 2 million people including the inhabitants of Stockholm, Sweden. To assess the persistence, mobility, bioavailability and bioaccumulation of 32 structurally diverse emerging organic contaminants, sediment, integrated passive and grab water samples were collected along the catchment of the River Fyris, Sweden. The samples were complemented with STP effluent and fish samples from one sampling event. Contaminants identified as persistent, mobile, and bioavailable were 4,6,6,7,8,8-hexamethyl-1,3,4,7-tetrahydrocyclopenta[g] isochromene (galaxolide), 2,4,7,9-tetramethyl-5-decyn-4,7-diol, tris(2-chloroethyl) phosphate, tris(1,3-dichloro-2-propyl) phosphate, and tris(1-chloro-2-propyl) phosphate. Galaxolide and 2,4,7,9-tetramethyl-5-decyn-4,7-diol were additionally found to be bioaccumulative, whereas n-butylbenzenesulfonamide was found to be only persistent and mobile. The total median mass flux of the persistent and mobile target analytes from Lake Ekoln into the drinking water source area of Lake Malaren was estimated to be 27 kg per year. Additionally, 10 contaminants were tentatively identified by non-target screening using NIST library searches and manual review. Two of those were confirmed by reference standards and further two contaminants, propylene glycol and rose acetate, were discharged from STPs and travelled far from the source. Attenuation of mass fluxes was highest in the summer and autumn seasons, suggesting the importance of biological degradation and photodegradation for the persistence of the studied compounds.
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10.
  • Gao, Qiuju, et al. (författare)
  • Impact of on-site wastewater infiltration systems on organic contaminants in groundwater and recipient waters
  • 2019
  • Ingår i: Science of the Total Environment. - : Elsevier. - 0048-9697 .- 1879-1026. ; 651, s. 1670-1679
  • Tidskriftsartikel (refereegranskat)abstract
    • On-site sewage treatment facilities, particularly septic systems combined with soil infiltration, can be an important source of emerging organic contaminants in groundwater and surface water and thus represent a significant source of environmental and human exposure. Two infiltration systems in Åre municipality, Sweden, were examined to assess the occurrence of contaminants in groundwater and their fate and transport during infiltration. Groundwater samples, recipient surface water samples, and wastewater samples from septic tanks were collected from 2016 to 2017 covering all climatological seasons. These samples were analysed for a total of 103 contaminants, including pharmaceuticals, personal care products, organic phosphorus flame-retardants, plasticisers, perfluoroalkyl substances, and food additives. Fourteen of 103 contaminants showed 100% detection frequency in groundwater at concentrations in the low ng L−1 to low μg L−1 range. Of the compounds analysed, tris(2‑butoxyethyl) phosphate, sucralose, caffeine, and benzophenone showed high abundancy with maximum concentrations in the μg L−1 range. The data were normalised for dilution using chloride and sucralose as commonly applied tracers; however, the level of sucralose decreased significantly during infiltration and it is thus suboptimal as a sewage water tracer. Large differences between the two infiltration sites were observed in detection frequencies and concentrations in groundwater, which could be attributed to the system design and the contaminant's migration time from release to sampling point. Seasonal variation was observed for selected chemicals, and the more hydrophobic chemicals showed a higher tendency for attenuation, indicating sorption as a major retention mechanism. A moderate environmental risk to aquatic organisms was estimated in adjacent surface water for galaxolide, tris(1‑chloro‑2‑propyl) phosphate, and tris(2‑butoxyethyl) phosphate. Due to this site-dependency and potential environmental risks, further studies are needed on infiltration systems in different settings and on alternative treatment techniques to reduce the contaminant discharge from on-site sewage treatment facilities.
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