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- Michaelson, Peter, et al.
(författare)
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Vertical posture and head stability in patients with chronic neck pain.
- 2003
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Ingår i: Journal of Rehabilitation Medicine. - : Medical Journals Sweden AB. - 1650-1977 .- 1651-2081. ; 35:5, s. 229-235
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: To evaluate postural performance and head stabilization of patients with chronic neck pain. DESIGN: A single-blind comparative group study. SUBJECTS: Patients with work-related chronic neck pain (n = 9), with chronic whiplash associated disorders (n = 9) and healthy subjects (n = 16). METHODS: During quiet standing in different conditions (e.g. 1 and 2 feet standing, tandem standing, and open and closed eyes) the sway areas and the ability to maintain the postures were measured. The maximal peak-to-peak displacement of the centre of pressure and the head translation were analysed during predictable and unpredictable postural perturbations. RESULTS: Patients with chronic neck pain, in particular those with whiplash-associated disorders, showed larger sway areas and reduced ability to successfully execute more challenging balance tasks. They also displayed larger sway areas and reduced head stability during perturbations. CONCLUSION: The results show that disturbances of postural control in chronic neck pain are dependent on the aetiology, and that it is possible to quantify characteristic postural disturbances in different neck pain conditions. It is suggested that the dissimilarities in postural performance are a reflection of different degrees of disturbances of the proprioceptive input to the central nervous system and/or of the central processing of such input.
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- Price, KM, et al.
(författare)
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Hypothesis-driven genome-wide association studies provide novel insights into genetics of reading disabilities
- 2022
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Ingår i: Translational psychiatry. - : Springer Science and Business Media LLC. - 2158-3188. ; 12:1, s. 495-
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Tidskriftsartikel (refereegranskat)abstract
- Reading Disability (RD) is often characterized by difficulties in the phonology of the language. While the molecular mechanisms underlying it are largely undetermined, loci are being revealed by genome-wide association studies (GWAS). In a previous GWAS for word reading (Price, 2020), we observed that top single-nucleotide polymorphisms (SNPs) were located near to or in genes involved in neuronal migration/axon guidance (NM/AG) or loci implicated in autism spectrum disorder (ASD). A prominent theory of RD etiology posits that it involves disturbed neuronal migration, while potential links between RD-ASD have not been extensively investigated. To improve power to identify associated loci, we up-weighted variants involved in NM/AG or ASD, separately, and performed a new Hypothesis-Driven (HD)–GWAS. The approach was applied to a Toronto RD sample and a meta-analysis of the GenLang Consortium. For the Toronto sample (n = 624), no SNPs reached significance; however, by gene-set analysis, the joint contribution of ASD-related genes passed the threshold (p~1.45 × 10–2, threshold = 2.5 × 10–2). For the GenLang Cohort (n = 26,558), SNPs in DOCK7 and CDH4 showed significant association for the NM/AG hypothesis (sFDR q = 1.02 × 10–2). To make the GenLang dataset more similar to Toronto, we repeated the analysis restricting to samples selected for reading/language deficits (n = 4152). In this GenLang selected subset, we found significant association for a locus intergenic between BTG3-C21orf91 for both hypotheses (sFDR q < 9.00 × 10–4). This study contributes candidate loci to the genetics of word reading. Data also suggest that, although different variants may be involved, alleles implicated in ASD risk may be found in the same genes as those implicated in word reading. This finding is limited to the Toronto sample suggesting that ascertainment influences genetic associations.
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- Hugelius, Gustaf, et al.
(författare)
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Estimated stocks of circumpolar permafrost carbon with quantified uncertainty ranges and identified data gaps
- 2014
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Ingår i: Biogeosciences. - : Copernicus GmbH. - 1726-4170 .- 1726-4189. ; 11:23, s. 6573-6593
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Tidskriftsartikel (refereegranskat)abstract
- Soils and other unconsolidated deposits in the northern circumpolar permafrost region store large amounts of soil organic carbon (SOC). This SOC is potentially vulnerable to remobilization following soil warming and permafrost thaw, but SOC stock estimates were poorly constrained and quantitative error estimates were lacking. This study presents revised estimates of permafrost SOC stocks, including quantitative uncertainty estimates, in the 0-3m depth range in soils as well as for sediments deeper than 3m in deltaic deposits of major rivers and in the Yedoma region of Siberia and Alaska. Revised estimates are based on significantly larger databases compared to previous studies. Despite this there is evidence of significant remaining regional data gaps. Estimates remain particularly poorly constrained for soils in the High Arctic region and physiographic regions with thin sedimentary overburden (mountains, highlands and plateaus) as well as for deposits below 3mdepth in deltas and the Yedoma region. While some components of the revised SOC stocks are similar in magnitude to those previously reported for this region, there are substantial differences in other components, including the fraction of perennially frozen SOC. Upscaled based on regional soil maps, estimated permafrost region SOC stocks are 217 +/- 12 and 472 +/- 27 Pg for the 0-0.3 and 0-1 m soil depths, respectively (+/- 95% confidence intervals). Storage of SOC in 0-3m of soils is estimated to 1035 +/- 150 Pg. Of this, 34 +/- 16 PgC is stored in poorly developed soils of the High Arctic. Based on generalized calculations, storage of SOC below 3m of surface soils in deltaic alluvium of major Arctic rivers is estimated as 91 +/- 52 Pg. In the Yedoma region, estimated SOC stocks below 3mdepth are 181 +/- 54 Pg, of which 74 +/- 20 Pg is stored in intact Yedoma (late Pleistocene ice-and organic-rich silty sediments) with the remainder in refrozen thermokarst deposits. Total estimated SOC storage for the permafrost region is similar to 1300 Pg with an uncertainty range of similar to 1100 to 1500 Pg. Of this, similar to 500 Pg is in non-permafrost soils, seasonally thawed in the active layer or in deeper taliks, while similar to 800 Pg is perennially frozen. This represents a substantial similar to 300 Pg lowering of the estimated perennially frozen SOC stock compared to previous estimates.
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- Michaelson, D., et al.
(författare)
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Postprenylation CAAX processing is required for proper localization of Ras but not Rho GTPases
- 2005
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Ingår i: Mol Biol Cell. ; 16:4, s. 1606-1616
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Tidskriftsartikel (refereegranskat)abstract
- The CAAX motif at the C terminus of most monomeric GTPases is required for membrane targeting because it signals for a series of three posttranslational modifications that include isoprenylation, endoproteolytic release of the C-terminal- AAX amino acids, and carboxyl methylation of the newly exposed isoprenylcysteine. The individual contributions of these modifications to protein trafficking and function are unknown. To address this issue, we performed a series of experiments with mouse embryonic fibroblasts (MEFs) lacking Rce1 (responsible for removal of the -AAX sequence) or Icmt (responsible for carboxyl methylation of the isoprenylcysteine). In MEFs lacking Rce1 or Icmt, farnesylated Ras proteins were mislocalized. In contrast, the intracellular localizations of geranylgeranylated Rho GTPases were not perturbed. Consistent with the latter finding, RhoGDI binding and actin remodeling were normal in Rce1- and Icmt-deficient cells. Swapping geranylgeranylation for farnesylation on Ras proteins or vice versa on Rho proteins reversed the differential sensitivities to Rce1 and Icmt deficiency. These results suggest that postprenylation CAAX processing is required for proper localization of farnesylated Ras but not geranygeranylated Rho proteins.
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- Sjölander, P, et al.
(författare)
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Sensorimotor disturbances in chronic neck pain - range of motion, peak velocity, smoothness of movement, and repositioning acuity.
- 2008
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Ingår i: Manual Therapy. - : Elsevier BV. - 1356-689X .- 1532-2769. ; 13:2, s. 122-131
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Tidskriftsartikel (refereegranskat)abstract
- The purpose of this pilot study was to evaluate sensorimotor functions in patients with chronic neck pain with objective and quantitative methods. A group of 16 patients with chronic idiopathic neck pain of insidious onset or whiplash associated disorders (WAD) was compared to an equally sized group of healthy subjects. Kinematics were investigated during voluntary head rotations by measuring range of motion, variability of range of motion (ROM-Variability), peak velocity, and smoothness of movement (jerk index). Repositioning acuity after cervical rotations was evaluated by analysing constant and variable error (VE). In comparison to the healthy subjects, the patients showed significantly larger jerk index, ROM-Variability and VE. No statistically significant differences were found between insidious neck pain and WAD. It is concluded that jerky and irregular cervical movements and poor position sense acuity are characteristic sensorimotor symptoms in chronic neck pain. The observed individuality in sensorimotor disturbances emphasizes the importance of developing specific rehabilitation programs for specific dysfunctions, and of using objective and quantitative methods for evaluation of rehabilitation.
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- Wang, T, et al.
(författare)
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Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
- 2020
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Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 11:1, s. 4932-
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Tidskriftsartikel (refereegranskat)abstract
- Most genes associated with neurodevelopmental disorders (NDDs) were identified with an excess of de novo mutations (DNMs) but the significance in case–control mutation burden analysis is unestablished. Here, we sequence 63 genes in 16,294 NDD cases and an additional 62 genes in 6,211 NDD cases. By combining these with published data, we assess a total of 125 genes in over 16,000 NDD cases and compare the mutation burden to nonpsychiatric controls from ExAC. We identify 48 genes (25 newly reported) showing significant burden of ultra-rare (MAF < 0.01%) gene-disruptive mutations (FDR 5%), six of which reach family-wise error rate (FWER) significance (p < 1.25E−06). Among these 125 targeted genes, we also reevaluate DNM excess in 17,426 NDD trios with 6,499 new autism trios. We identify 90 genes enriched for DNMs (FDR 5%; e.g., GABRG2 and UIMC1); of which, 61 reach FWER significance (p < 3.64E−07; e.g., CASZ1). In addition to doubling the number of patients for many NDD risk genes, we present phenotype–genotype correlations for seven risk genes (CTCF, HNRNPU, KCNQ3, ZBTB18, TCF12, SPEN, and LEO1) based on this large-scale targeted sequencing effort.
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