| 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. |
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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. |
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| 5. |
- Benoit, Daniel L, et al.
(författare)
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Effect of skin movement artifact on knee kinematics during gait and cutting motions measured in vivo
- 2006
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Ingår i: Gait & Posture. - : Elsevier. - 0966-6362 .- 1879-2219. ; 24:2, s. 152-164
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Tidskriftsartikel (refereegranskat)abstract
- Eight healthy male subjects had intra-cortical bone-pins inserted into the proximal tibia and distal femur. Three reflective markers were attached to each bone-pin and four reflective markers were mounted on the skin of the tibia and thigh, respectively. Roentgen-stereophotogrammetric analysis (RSA) was used to determine the anatomical reference frame of the tibia and femur. Knee joint motion was recorded during walking and cutting using infrared cameras sampling at 120Hz. The kinematics derived from the bone-pin markers were compared with that of the skin-markers. Average rotational errors of up to 4.4 degrees and 13.1 degrees and translational errors of up to 13.0 and 16.1mm were noted for the walk and cut, respectively. Although skin-marker derived kinematics could provide repeatable results this was not representative of the motion of the underlying bones. A standard error of measurement is proposed for the reporting of 3D knee joint kinematics.
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| 6. |
- Benoit, Daniel L, et al.
(författare)
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In vivo knee kinematics during gait reveals new rotation profiles and smaller translations
- 2007
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Ingår i: Clinical Orthopaedics and Related Research. - : Lippincott Williams & Wilkins. - 0009-921X .- 1528-1132. ; 454, s. 81-88
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Tidskriftsartikel (refereegranskat)abstract
- In order to identify abnormal or pathological motions associated with clinically relevant questions such as injury mechanisms or factors leading to joint degeneration, it is essential to determine the range of normal tibiofemoral motion of the healthy knee. In this study we measured in vivo 3D tibiofemoral motion of the knee during gait and characterized the nonsagittal plane rotations and translations in a group of six healthy young adults. The subjects were instrumented with markers placed on intracortical pins inserted into the tibia and femur as well as marker clusters placed on the skin of the thigh and shank. The secondary rotations and translation excursions of the knee were much smaller than those derived from skin markers and previously described in the literature. Also, for a given knee flexion angle, multiple combinations of transverse and frontal plane knee translation or rotation positions were found. This represents normal knee joint motions and ensemble averaging of gait data may mask this important subject-specific information.
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| 7. |
- 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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| 8. |
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| 9. |
- 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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| 10. |
- 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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| 11. |
- Ramsey, Dan K., et al.
(författare)
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Electromyographic and biomechanic analysis of anterior cruciate ligament deficiency and functional knee bracing
- 2003
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Ingår i: Clinical Biomechanics. - Oxon, United Kingdom : Elsevier. - 0268-0033 .- 1879-1271. ; 18:1, s. 28-34
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Tidskriftsartikel (refereegranskat)abstract
- Objective: Examine the neuromuscular response to functional knee bracing relative to anterior tibial translations in vivo.Design: During randomised brace conditions, electromyographic data with simultaneous skeletal tibiofemoral kinematics were recorded from four anterior cruciate ligament deficient subjects to investigate the effect of the DonJoy Legend functional brace during activity.Background: Knee braces do not increase knee stability but may influence afferent inputs from proprioception and therefore one might expect changes in muscle firing patterns, amplitude and timing.Methods: Hoffman bone pins affixed with markers were implanted into the tibia and femur for kinematic measurement. The EMG data from the rectus femoris, semitendinosus, biceps femoris, and lateral head of the gastrocnemius were integrated for each subject in three separate time periods: 250 ms preceding footstrike and two consecutive 125 ms time intervals following footstrike.Results: With brace, semitendinosus activity significantly decreased 17% prior to footstrike whereas bicep femoris significantly decreased 44% during A2, (P<0.05). Rectus femoris activity significantly increased 21% in A2 (P<0.05). No consistent reductions in anterior translations were evident.Conclusion: Our preliminary findings, based on a limited number of subjects, indicate joint stability may result from proprioceptive feedback rather than the mechanical stabilising effect of the brace. Despite a significant increase in rectus femoris activity upon landing, only one subject demonstrated an increase in anterior tibial drawer.Relevance: Studies have shown functional braces do not mechanically stabilise the anterior cruciate ligament deficient knee. Perhaps bracing alters proprioceptive feedback. It has been shown that bracing the anterior cruciate ligament deficient knee may affect hamstring and quadriceps activity. Our findings stresses the importance of functional knee bracing combined with proprioceptive and muscular coordination training in order to increase joint stability.
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| 12. |
- 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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| 13. |
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| 14. |
- Wilson, Stephanie J., et al.
(författare)
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Global subterranean estuaries modify groundwater nutrient loading to the ocean
- 2024
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Ingår i: Limnology And Oceanography Letters. - 2378-2242.
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Tidskriftsartikel (refereegranskat)abstract
- Terrestrial groundwater travels through subterranean estuaries before reaching the sea. Groundwater-derived nutrients drive coastal water quality, primary production, and eutrophication. We determined how dissolved inorganic nitrogen (DIN), dissolved inorganic phosphorus (DIP), and dissolved organic nitrogen (DON) are transformed within subterranean estuaries and estimated submarine groundwater discharge (SGD) nutrient loads compiling > 10,000 groundwater samples from 216 sites worldwide. Nutrients exhibited complex, nonconservative behavior in subterranean estuaries. Fresh groundwater DIN and DIP are usually produced, and DON is consumed during transport. Median total SGD (saline and fresh) fluxes globally were 5.4, 2.6, and 0.18 Tmol yr−1 for DIN, DON, and DIP, respectively. Despite large natural variability, total SGD fluxes likely exceed global riverine nutrient export. Fresh SGD is a small source of new nutrients, but saline SGD is an important source of mostly recycled nutrients. Nutrients exported via SGD via subterranean estuaries are critical to coastal biogeochemistry and a significant nutrient source to the oceans.
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