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| 2. |
- 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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| 3. |
- Mishra, U., et al.
(författare)
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Empirical estimates to reduce modeling uncertainties of soil organic carbon in permafrost regions : a review of recent progress and remaining challenges
- 2013
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Ingår i: Environmental Research Letters. - : IOP Publishing. - 1748-9326. ; 8:3, s. 035020-
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Tidskriftsartikel (refereegranskat)abstract
- The vast amount of organic carbon (OC) stored in soils of the northern circumpolar permafrost region is a potentially vulnerable component of the global carbon cycle. However, estimates of the quantity, decomposability, and combustibility of OC contained in permafrost-region soils remain highly uncertain, thereby limiting our ability to predict the release of greenhouse gases due to permafrost thawing. Substantial differences exist between empirical and modeling estimates of the quantity and distribution of permafrost-region soil OC, which contribute to large uncertainties in predictions of carbon-climate feedbacks under future warming. Here, we identify research challenges that constrain current assessments of the distribution and potential decomposability of soil OC stocks in the northern permafrost region and suggest priorities for future empirical and modeling studies to address these challenges.
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| 5. |
- 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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| 7. |
- 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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| 9. |
- Harden, Jennifer W., et al.
(författare)
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Field information links permafrost carbon to physical vulnerabilities of thawing
- 2012
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Ingår i: Geophysical Research Letters. - 0094-8276 .- 1944-8007. ; 39, s. L15704-
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Tidskriftsartikel (refereegranskat)abstract
- Deep soil profiles containing permafrost (Gelisols) were characterized for organic carbon (C) and total nitrogen (N) stocks to 3 m depths. Using the Community Climate System Model (CCSM4) we calculate cumulative distributions of active layer thickness (ALT) under current and future climates. The difference in cumulative ALT distributions over time was multiplied by C and N contents of soil horizons in Gelisol suborders to calculate newly thawed C and N. Thawing ranged from 147 PgC with 10 PgN by 2050 (representative concentration pathway RCP scenario 4.5) to 436 PgC with 29 PgN by 2100 (RCP 8.5). Organic horizons that thaw are vulnerable to combustion, and all horizon types are vulnerable to shifts in hydrology and decomposition. The rates and extent of such losses are unknown and can be further constrained by linking field and modelling approaches. These changes have the potential for strong additional loading to our atmosphere, water resources, and ecosystems. Citation: Harden, J. W., et al. (2012), Field information links permafrost carbon to physical vulnerabilities of thawing, Geophys. Res. Lett., 39, L15704, doi: 10.1029/2012GL051958.
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| 10. |
- 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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| 11. |
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