| 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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| 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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