| 1. |
- Kanai, M, et al.
(author)
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- 2023
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swepub:Mat__t
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| 2. |
- Niemi, MEK, et al.
(author)
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- 2021
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swepub:Mat__t
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| 3. |
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| 4. |
- Blokland, G. A. M., et al.
(author)
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Sex-Dependent Shared and Nonshared Genetic Architecture Across Mood and Psychotic Disorders
- 2022
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In: Biological Psychiatry. - : Elsevier BV. - 0006-3223 .- 1873-2402. ; 91:1, s. 102-117
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Journal article (peer-reviewed)abstract
- Background: Sex differences in incidence and/or presentation of schizophrenia (SCZ), major depressive disorder (MDD), and bipolar disorder (BIP) are pervasive. Previous evidence for shared genetic risk and sex differences in brain abnormalities across disorders suggest possible shared sex-dependent genetic risk. Methods: We conducted the largest to date genome-wide genotype-by-sex (G×S) interaction of risk for these disorders using 85,735 cases (33,403 SCZ, 19,924 BIP, and 32,408 MDD) and 109,946 controls from the PGC (Psychiatric Genomics Consortium) and iPSYCH. Results: Across disorders, genome-wide significant single nucleotide polymorphism–by-sex interaction was detected for a locus encompassing NKAIN2 (rs117780815, p = 3.2 × 10−8), which interacts with sodium/potassium-transporting ATPase (adenosine triphosphatase) enzymes, implicating neuronal excitability. Three additional loci showed evidence (p < 1 × 10−6) for cross-disorder G×S interaction (rs7302529, p = 1.6 × 10−7; rs73033497, p = 8.8 × 10−7; rs7914279, p = 6.4 × 10−7), implicating various functions. Gene-based analyses identified G×S interaction across disorders (p = 8.97 × 10−7) with transcriptional inhibitor SLTM. Most significant in SCZ was a MOCOS gene locus (rs11665282, p = 1.5 × 10−7), implicating vascular endothelial cells. Secondary analysis of the PGC-SCZ dataset detected an interaction (rs13265509, p = 1.1 × 10−7) in a locus containing IDO2, a kynurenine pathway enzyme with immunoregulatory functions implicated in SCZ, BIP, and MDD. Pathway enrichment analysis detected significant G×S interaction of genes regulating vascular endothelial growth factor receptor signaling in MDD (false discovery rate-corrected p < .05). Conclusions: In the largest genome-wide G×S analysis of mood and psychotic disorders to date, there was substantial genetic overlap between the sexes. However, significant sex-dependent effects were enriched for genes related to neuronal development and immune and vascular functions across and within SCZ, BIP, and MDD at the variant, gene, and pathway levels. © 2021 Society of Biological Psychiatry
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| 7. |
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The Seventeenth Data Release of the Sloan Digital Sky Surveys : Complete Release of MaNGA, MaStar, and APOGEE-2 Data
- 2022
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In: Astrophysical Journal Supplement Series. - : Institute of Physics (IOP). - 0067-0049 .- 1538-4365. ; 259:2
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Journal article (peer-reviewed)abstract
- This paper documents the seventeenth data release (DR17) from the Sloan Digital Sky Surveys; the fifth and final release from the fourth phase (SDSS-IV). DR17 contains the complete release of the Mapping Nearby Galaxies at Apache Point Observatory (MaNGA) survey, which reached its goal of surveying over 10,000 nearby galaxies. The complete release of the MaNGA Stellar Library accompanies this data, providing observations of almost 30,000 stars through the MaNGA instrument during bright time. DR17 also contains the complete release of the Apache Point Observatory Galactic Evolution Experiment 2 survey that publicly releases infrared spectra of over 650,000 stars. The main sample from the Extended Baryon Oscillation Spectroscopic Survey (eBOSS), as well as the subsurvey Time Domain Spectroscopic Survey data were fully released in DR16. New single-fiber optical spectroscopy released in DR17 is from the SPectroscipic IDentification of ERosita Survey subsurvey and the eBOSS-RM program. Along with the primary data sets, DR17 includes 25 new or updated value-added catalogs. This paper concludes the release of SDSS-IV survey data. SDSS continues into its fifth phase with observations already underway for the Milky Way Mapper, Local Volume Mapper, and Black Hole Mapper surveys.
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| 8. |
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| 9. |
- Rieke, Johanna Magdalena, et al.
(author)
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SLC20A1Is Involved in Urinary Tract and Urorectal Development
- 2020
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In: Frontiers in Cell and Developmental Biology. - : FRONTIERS MEDIA SA. - 2296-634X. ; 8
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Journal article (peer-reviewed)abstract
- Previous studies in developingXenopusand zebrafish reported that the phosphate transporterslc20a1ais expressed in pronephric kidneys. The recent identification ofSLC20A1as a monoallelic candidate gene for cloacal exstrophy further suggests its involvement in the urinary tract and urorectal development. However, little is known of the functional role ofSLC20A1in urinary tract development. Here, we investigated this using morpholino oligonucleotide knockdown of the zebrafish orthologslc20a1a. This caused kidney cysts and malformations of the cloaca. Moreover, in morphants we demonstrated dysfunctional voiding and hindgut opening defects mimicking imperforate anus in human cloacal exstrophy. Furthermore, we performed immunohistochemistry of an unaffected 6-week-old human embryo and detectedSLC20A1in the urinary tract and the abdominal midline, structures implicated in the pathogenesis of cloacal exstrophy. Additionally, we resequencedSLC20A1in 690 individuals with bladder exstrophy-epispadias complex (BEEC) including 84 individuals with cloacal exstrophy. We identified two additional monoallelicde novovariants. One was identified in a case-parent trio with classic bladder exstrophy, and one additional novelde novovariant was detected in an affected mother who transmitted this variant to her affected son. To study the potential cellular impact ofSLC20A1variants, we expressed them in HEK293 cells. Here, phosphate transport was not compromised, suggesting that it is not a disease mechanism. However, there was a tendency for lower levels of cleaved caspase-3, perhaps implicating apoptosis pathways in the disease. Our results suggestSLC20A1is involved in urinary tract and urorectal development and implicateSLC20A1as a disease-gene for BEEC.
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| 10. |
- Chandler, Benjamin M. P., et al.
(author)
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Sub‐annual moraine formation at an active temperate Icelandic glacier
- 2020
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In: Earth Surface Processes and Landforms. - : Wiley. - 0197-9337 .- 1096-9837. ; 45:7, s. 1622-1643
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Journal article (peer-reviewed)abstract
- This paper presents detailed geomorphological and sedimentological investigations of small recessional moraines at Fjallsjökull, an active temperate outlet of Öræfajökull, southeast Iceland. The moraines are characterised by striking sawtooth or hairpin planforms, which are locally superimposed, giving rise to a complex spatial pattern. We recognise two distinct populations of moraines, namely a group of relatively prominent moraine ridges (mean height ~1.2 m) and a group of comparatively low‐relief moraines (mean height ~0.4 m). These two groups often occur in sets/systems, comprising one pronounced outer ridge and several inset smaller moraines. Using a representative subsample of the moraines, we establish that they form by either (i) submarginal deformation and squeezing of subglacial till or (ii) pushing of extruded tills. Locally, proglacial (glaciofluvial) sediments are also incorporated within the moraines during pushing. For the first time, to our knowledge, we demonstrate categorically that these moraines formed sub‐annually using repeat uncrewed aerial vehicle (UAV) imagery. We present a conceptual model for sub‐annual moraine formation at Fjallsjökull that proposes the sawtooth moraine sequence comprises (i) sets of small squeeze moraines formed during melt‐driven squeeze events and (ii) larger push moraines formed during winter re‐advances. We suggest the development of this process‐form regime is linked to a combination of elevated temperatures, high surface meltwater fluxes to the bed, and emerging basal topography (a depositional overdeepening). These factors result in highly saturated subglacial sediments and high porewater pressures, which induces submarginal deformation and ice‐marginal squeezing during the melt season. Strong glacier recession during the summer, driven by elevated temperatures, allows several squeeze moraines to be emplaced. This process‐form regime may be characteristic of active temperate glaciers receding into overdeepenings during phases of elevated temperatures, especially where their englacial drainage systems allow efficient transfer of surface meltwater to the glacier bed near the snout margin.
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| 11. |
- Chandler, Benjamin M. P., et al.
(author)
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The glacial landsystem of Fjallsjökull, Iceland : Spatial and temporal evolution of process-form regimes at an active temperate glacier
- 2020
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In: Geomorphology. - : Elsevier BV. - 0169-555X .- 1872-695X. ; 361
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Journal article (peer-reviewed)abstract
- This study assesses the spatial and temporal evolution of the glacial landsystem signature at Fjallsjiikull, southeast Iceland, using (a) mapping of the glacial geomorphology and surficial geology and (b) repeat uncrewed aerial vehicle (UAV) surveys. A small-scale (1: 15,000 scale) landsystem map has been compiled using LiDAR data (2011-2012) and historical aerial photographs (1945-1998), along with a large-scale (1: 2000 scale) map based on UAV imagery from May 2019. From our mapping and UAV surveys, we identify sediment-landform assemblages that are typical of active temperate glacial landsystems, including recessional push/squeeze moraines and intervening flutings, overridden moraine arcs, proglacial outwash (sandur) fans and linear/ribbon sandar. We recognize three landform zones that are defined by changes in moraine morphology and the nature of proglacial outwash deposition: (1) the outer foreland is characterized by proglacial outwash fans, overridden moraine arcs and broadly linear recessional moraines; (2) the middle foreland contains sawtooth moraines and linear sandar; and (3) the innermost zone comprises extremely sawtooth and hairpin moraines as well as associated crevasse-squeeze ridge limbs. This landform zonation reflects spatio-temporal changes in moraineforming processes and outwash deposition as determined by changes in snout morphology arid proglacial drainage characteristics. Within this general tripartite zonation, we also identify localized (atonal/intrazonal) sediment-landform assemblages that are not typically found at active temperate glaciers, including ice-cored/hummocky terrain and localized kame and kettle topography. Repeat UAV surveying in 2016-2019 has allowed us to capture and quantify recent intrazonal landsystem change at the southern glacier margin. We identify a switch from moraine formation to the development of ice-cored terrain and an ice-cored esker complex in association with the uncovering of a depositional overdeepening,. Our study demonstrates the important role that variations in local boundary conditions (e.g. topography) can play in the process-form response of individual active temperate outlet glaciers, contributing to the expanding database on modern glacial landsystems.
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| 12. |
- Demichev, Vadim, et al.
(author)
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A time-resolved proteomic and prognostic map of COVID-19
- 2021
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In: Cell Systems. - : Elsevier BV. - 2405-4712 .- 2405-4720. ; 12:8, s. 780-794.e7
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Journal article (peer-reviewed)abstract
- COVID-19 is highly variable in its clinical presentation, ranging from asymptomatic infection to severe organ damage and death. We characterized the time-dependent progression of the disease in 139 COVID-19 inpatients by measuring 86 accredited diagnostic parameters, such as blood cell counts and enzyme activities, as well as untargeted plasma proteomes at 687 sampling points. We report an initial spike in a systemic inflammatory response, which is gradually alleviated and followed by a protein signature indicative of tissue repair, metabolic reconstitution, and immunomodulation. We identify prognostic marker signatures for devising risk-adapted treatment strategies and use machine learning to classify therapeutic needs. We show that the machine learning models based on the proteome are transferable to an independent cohort. Our study presents a map linking routinely used clinical diagnostic parameters to plasma proteomes and their dynamics in an infectious disease.
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| 13. |
- Watts, Eleanor L., et al.
(author)
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Circulating insulin-like growth factors and risks of overall, aggressive and early-onset prostate cancer : a collaborative analysis of 20 prospective studies and Mendelian randomization analysis
- 2023
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In: International Journal of Epidemiology. - : Oxford University Press. - 0300-5771 .- 1464-3685. ; 52:1, s. 71-86
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Journal article (peer-reviewed)abstract
- Background: Previous studies had limited power to assess the associations of circulating insulin-like growth factors (IGFs) and IGF-binding proteins (IGFBPs) with clinically relevant prostate cancer as a primary endpoint, and the association of genetically predicted IGF-I with aggressive prostate cancer is not known. We aimed to investigate the associations of IGF-I, IGF-II, IGFBP-1, IGFBP-2 and IGFBP-3 concentrations with overall, aggressive and early-onset prostate cancer.Methods: Prospective analysis of biomarkers using the Endogenous Hormones, Nutritional Biomarkers and Prostate Cancer Collaborative Group dataset (up to 20 studies, 17 009 prostate cancer cases, including 2332 aggressive cases). Odds ratios (OR) and 95% confidence intervals (CI) for prostate cancer were estimated using conditional logistic regression. For IGF-I, two-sample Mendelian randomization (MR) analysis was undertaken using instruments identified using UK Biobank (158 444 men) and outcome data from PRACTICAL (up to 85 554 cases, including 15 167 aggressive cases). Additionally, we used colocalization to rule out confounding by linkage disequilibrium.Results: In observational analyses, IGF-I was positively associated with risks of overall (OR per 1 SD = 1.09: 95% CI 1.07, 1.11), aggressive (1.09: 1.03, 1.16) and possibly early-onset disease (1.11: 1.00, 1.24); associations were similar in MR analyses (OR per 1 SD = 1.07: 1.00, 1.15; 1.10: 1.01, 1.20; and 1.13; 0.98, 1.30, respectively). Colocalization also indicated a shared signal for IGF-I and prostate cancer (PP4: 99%). Men with higher IGF-II (1.06: 1.02, 1.11) and IGFBP-3 (1.08: 1.04, 1.11) had higher risks of overall prostate cancer, whereas higher IGFBP-1 was associated with a lower risk (0.95: 0.91, 0.99); these associations were attenuated following adjustment for IGF-I.Conclusions: These findings support the role of IGF-I in the development of prostate cancer, including for aggressive disease.
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