| 1. |
- Santangelo, James S., et al.
(författare)
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Global urban environmental change drives adaptation in white clover
- 2022
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Ingår i: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 375
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Tidskriftsartikel (refereegranskat)abstract
- Urbanization transforms environments in ways that alter biological evolution. We examined whether urban environmental change drives parallel evolution by sampling 110,019 white clover plants from 6169 populations in 160 cities globally. Plants were assayed for a Mendelian antiherbivore defense that also affects tolerance to abiotic stressors. Urban-rural gradients were associated with the evolution of clines in defense in 47% of cities throughout the world. Variation in the strength of clines was explained by environmental changes in drought stress and vegetation cover that varied among cities. Sequencing 2074 genomes from 26 cities revealed that the evolution of urban-rural dines was best explained by adaptive evolution, but the degree of parallel adaptation varied among cities. Our results demonstrate that urbanization leads to adaptation at a global scale.
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| 2. |
- McKay, James D., et al.
(författare)
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Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes
- 2017
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Ingår i: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 49:7, s. 1126-1132
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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. |
- Sakornsakolpat, Phuwanat, et al.
(författare)
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Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations
- 2019
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 51:3, s. 494-505
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Tidskriftsartikel (refereegranskat)abstract
- Chronic obstructive pulmonary disease (COPD) is the leading cause of respiratory mortality worldwide. Genetic risk loci provide new insights into disease pathogenesis. We performed a genome-wide association study in 35,735 cases and 222,076 controls from the UK Biobank and additional studies from the International COPD Genetics Consortium. We identified 82 loci associated with P < 5 x 10-8; 47 of these were previously described in association with either COPD or population-based measures of lung function. Of the remaining 35 new loci, 13 were associated with lung function in 79,055 individuals from the SpiroMeta consortium. Using gene expression and regulation data, we identified functional enrichment of COPD risk loci in lung tissue, smooth muscle, and several lung cell types. We found 14 COPD loci shared with either asthma or pulmonary fibrosis. COPD genetic risk loci clustered into groups based on associations with quantitative imaging features and comorbidities. Our analyses provide further support for the genetic susceptibility and heterogeneity of COPD.
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| 4. |
- Ji, Xuemei, et al.
(författare)
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Identification of susceptibility pathways for the role of chromosome 15q25.1 in modifying lung cancer risk
- 2018
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Ingår i: Nature Communications. - : NATURE PUBLISHING GROUP. - 2041-1723. ; 9, s. 1-15
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Tidskriftsartikel (refereegranskat)abstract
- Genome-wide association studies (GWAS) identified the chromosome 15q25.1 locus as a leading susceptibility region for lung cancer. However, the pathogenic pathways, through which susceptibility SNPs within chromosome 15q25.1 affects lung cancer risk, have not been explored. We analyzed three cohorts with GWAS data consisting 42,901 individuals and lung expression quantitative trait loci (eQTL) data on 409 individuals to identify and validate the underlying pathways and to investigate the combined effect of genes from the identified susceptibility pathways. The KEGG neuroactive ligand receptor interaction pathway, two Reactome pathways, and 22 Gene Ontology terms were identified and replicated to be significantly associated with lung cancer risk, with P values less than 0.05 and FDR less than 0.1. Functional annotation of eQTL analysis results showed that the neuroactive ligand receptor interaction pathway and gated channel activity were involved in lung cancer risk. These pathways provide important insights for the etiology of lung cancer.
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| 5. |
- Fernandez-Martinez, M., et al.
(författare)
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Nutrient scarcity as a selective pressure for mast seeding
- 2019
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Ingår i: Nature Plants. - : Springer Science and Business Media LLC. - 2055-026X .- 2055-0278. ; 5:12
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Tidskriftsartikel (refereegranskat)abstract
- Mast seeding is one of the most intriguing reproductive traits in nature. Despite its potential drawbacks in terms of fitness, the widespread existence of this phenomenon suggests that it should have evolutionary advantages under certain circumstances. Using a global dataset of seed production time series for 219 plant species from all of the continents, we tested whether masting behaviour appears predominantly in species with low foliar nitrogen and phosphorus concentrations when controlling for local climate and productivity. Here, we show that masting intensity is higher in species with low foliar N and P concentrations, and especially in those with imbalanced N/P ratios, and that the evolutionary history of masting behaviour has been linked to that of nutrient economy. Our results support the hypothesis that masting is stronger in species growing under limiting conditions and suggest that this reproductive behaviour might have evolved as an adaptation to nutrient limitations and imbalances.
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| 6. |
- Giordano, M, et al.
(författare)
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Design and Implementation of a Whole-Body Haptic Suit for “Ilinx”, a Multisensory Art Installation
- 2015
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Ingår i: Proc. of the 12th Int. Conference on Sound and Music Computing (SMC-15). - Maynooth, Ireland : Maynooth University. ; , s. 169-175
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Konferensbidrag (refereegranskat)abstract
- Ilinx is a multidisciplinary art/science research project focusing on the development of a multisensory art installation involving sound, visuals and haptics. In this paper we describe design choices and technical challenges behind the development of the haptic technology embedded into six augment garments. Starting from perceptual experiments, conducted to characterize the thirty vibrating actuators used in the garments, we describe hardware and software design, and the development of several haptic effects. The garments have successfully been used by over 300 people during the premiere of the installation in the TodaysArt 2014 festival in The Hague.
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| 11. |
- Matsson, H., et al.
(författare)
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Targeted high-throughput sequencing of candidate genes for chronic obstructive pulmonary disease
- 2016
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Ingår i: Bmc Pulmonary Medicine. - : Springer Science and Business Media LLC. - 1471-2466. ; 16
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Tidskriftsartikel (refereegranskat)abstract
- Background: Reduced lung function in patients with chronic obstructive pulmonary disease (COPD) is likely due to both environmental and genetic factors. We report here a targeted high-throughput DNA sequencing approach to identify new and previously known genetic variants in a set of candidate genes for COPD. Methods: Exons in 22 genes implicated in lung development as well as 61 genes and 10 genomic regions previously associated with COPD were sequenced using individual DNA samples from 68 cases with moderate or severe COPD and 66 controls matched for age, gender and smoking. Cases and controls were selected from the Obstructive Lung Disease in Northern Sweden (OLIN) studies. Results: In total, 37 genetic variants showed association with COPD (p < 0.05, uncorrected). Several variants previously discovered to be associated with COPD from genetic genome-wide analysis studies were replicated using our sample. Two high-risk variants were followed-up for functional characterization in a large eQTL mapping study of 1,111 human lung specimens. The C allele of a synonymous variant, rs8040868, predicting a p.(S45=) in the gene for cholinergic receptor nicotinic alpha 3 (CHRNA3) was associated with COPD (p = 8.8 x 10(-3)). This association remained (p = 0.003 and OR = 1.4, 95 % CI 1.1-1.7) when analysing all available cases and controls in OLIN (n = 1,534). The rs8040868 variant is in linkage disequilibrium with rs16969968 previously associated with COPD and altered expression of the CHRNA5 gene. A follow-up analysis for detection of expression quantitative trait loci revealed that rs8040868-C was found to be significantly associated with a decreased expression of the nearby gene cholinergic receptor, nicotinic, alpha 5 (CHRNA5) in lung tissue. Conclusion: Our data replicate previous result suggesting CHRNA5 as a candidate gene for COPD and rs8040868 as a risk variant for the development of COPD in the Swedish population.
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| 15. |
- Ramsey, D. K., et al.
(författare)
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Assessment of functional knee bracing : an in vivo three-dimensional kinematic analysis of the anterior cruciate deficient knee
- 2001
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Ingår i: Clinical Biomechanics. - Oxon, United Kingdom : Elsevier. - 0268-0033 .- 1879-1271. ; 16:1, s. 61-70
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Tidskriftsartikel (refereegranskat)abstract
- Objective: To describe three-dimensional tibial and femoral movements in vivo and examine the effect of a brace on knee kinematics during moderate to intense activity.Design: Skeletal kinematics of anterior cruciate ligament deficient knees was measured with and without braces during moderate to intense activity.Background: Invasive markers implanted into the tibia and femur are the most accurate means to directly measure skeletal motion and may provide a more sensitive measure of the differences between brace conditions.Methods: Steinmann traction pins were implanted into the femur and tibia of four subjects having a partial or complete anterior cruciate ligament rupture. Non-braced and braced conditions were randomly assigned and subjects jumped for maximal horizontal distance to sufficiently stress the anterior cruciate ligament.Results: Intra-subject peak vertical force and posterior shear force were generally consistent between conditions. Intra-subject kinematics was repeatable but linear displacements between brace conditions were small. Differences in angular and linear skeletal motion were observed across subjects. Bracing the anterior cruciate ligament deficient knee resulted in only minor kinematic changes in tibiofemoral joint motion.Conclusion: In this study, no consistent reductions in anterior tibial translations were observed as a function of the knee brace tested. Relevance. Investigations have reported that knee braces fail when high loads are encountered or when load is applied in an unpredictable manner. Questions remain regarding tibiofemoral joint motion, in particular linear displacements. The pin technique is a means for direct skeletal measurement and may provide a more sensitive measure of the differences between brace conditions.
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| 16. |
- Ramsey, D. K., et al.
(författare)
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Methodological concerns using intra-cortical pins to measure tibiofemoral kinematics
- 2003
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Ingår i: Knee Surgery, Sports Traumatology, Arthroscopy. - New York, USA : Springer-Verlag New York. - 0942-2056 .- 1433-7347. ; 11:5, s. 344-349
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Tidskriftsartikel (refereegranskat)abstract
- The complexity of human tibiofemoral joint motion is now better understood with the advancement of new methodologies to measure tibiofemoral kinematics in vivo. Marker clusters anchored to stainless steel bone pins inserted directly into the femur and tibia provide the most sensitive and accurate means for directly measuring skeletal tibiofemoral joint motion. Despite its invasiveness, this technique has been successful, although complications have been reported with the femoral pin and its insertion site. The purpose of this technical report is twofold: to review the difficulties with the femoral pin and its insertion site from a historical perspective, and to identify the load force required from biological tissue to permanently deform the pin. In addition, proposals in the advancement of this method are discussed in the context of reducing impingement with the femoral pin and the Iliotibial band. Because stainless steel exhibits plastic behaviour with no sharp yield point, Apex self-drilling/self-tapping bone pins underwent incremental loading on an Instron materials testing machine. Loads were transmitted perpendicular to the pin with the threads partially exposed and fully secured in vice. Since the accuracy of our combined stereophotogrammetry and Optoelectric motion analysis was less than 0.4 mm, it was decided that plastic deformation occurred after deflections of 0.4 mm. With exposed threads, deflections larger than 0.4 mm were observed at 150 N and 100 N when loads were applied at 15 mm and 20 mm from the vice (representative of where the tissue came in contact with the pin). Loads greater than 200 N produced deflections less than 0.2 mm when threads were fully inserted. The 90 Hz resonant frequency for the marker cluster-bone pin complex is beyond the spectrum of human movement and can be lowpass filtered. To reduce impingement and pin bending, one solution may be to implant pins with a shorter threaded section. By completely penetrating the bone, only the smooth surface of the pin is exposed which is more resistant to bending. Otherwise pins with larger diameters and longer longitudinal incisions about the femoral insertion site are an alternative. Lengthening the longitudinal incisions about the insertion site, and correctly aligning and inserting the femoral pin between the Iliotibial band and quadriceps tendon may diminish impingement. Performing dynamic open chain flexion and extension movements while on the operating table may aid in aligning the pin at the incision site. This may stretch the IT band and quadriceps tendon and may guide the femoral pin into a more optimal position prior to it being inserted into the cortex of the bone.
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| 21. |
- Wretenberg, Per, 1963-, et al.
(författare)
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Passive knee muscle moment arms measured in vivo with MRI
- 1996
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Ingår i: Clinical Biomechanics. - Oxon, United Kingdom : Butterworth-Heinemann. - 0268-0033 .- 1879-1271. ; 11:8, s. 439-446
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Tidskriftsartikel (refereegranskat)abstract
- Objective: To determine moment arm lengths from seven knee muscles and the patellar tendon. The knee muscles were the biceps femoris, semitendinosus, semimembranosus, gracilis, sartorius, and the lateral and medial gastrocnemius muscles.Design: The moment arms were calculated based on MRI measurements.Background: Moment arm lengths of different muscles with respect to the joint centre of rotation (CR) or the centre of the contact point between joint surfaces are necessary basic data for biomechanical models predicting joint load.Methods: Ten male and seven female subjects participated. Using a 1.5 Tesla magnetic resonance imaging system, 3-dimensional coordinates of relevant points were recorded from a 3-D volume reconstruction of the right knee at knee flexion angles of 0, 30 and 60 degrees. Muscular moment arms were calculated in both the sagittal and frontal planes. The recordings were all made during passive mode, which means that no muscular contraction was performed.Results: All muscles except the lateral gastrocnemius showed statistically significant differences (P<0.05) of moment arm lengths between gender in the frontal plane. All muscles except biceps femoris and sartorius showed significant differences (P<0.05) of moment arm lengths between gender in the sagittal plane. Most muscles also showed a linear or quadratic trend of changing moment arms with varying knee angle. CONCLUSIONS: Our results indicate that for most biomechanical analyses involving knee muscles, gender- and angle-specific moment arms should be used.
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