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- Rieke, Johanna Magdalena, et al.
(författare)
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SLC20A1Is Involved in Urinary Tract and Urorectal Development
- 2020
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Ingår i: Frontiers in Cell and Developmental Biology. - : FRONTIERS MEDIA SA. - 2296-634X. ; 8
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Tidskriftsartikel (refereegranskat)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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- Bralower, T, et al.
(författare)
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The Habitat of the Nascent Chicxulub Crater
- 2020
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Ingår i: AGU Advances. - : American Geophysical Union (AGU). ; 1
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Tidskriftsartikel (refereegranskat)abstract
- An expanded sedimentary section provides an opportunity to elucidate conditions in the nascent Chicxulub crater during the hours to millennia after the Cretaceous‐Paleogene (K‐Pg) boundary impact. The sediments were deposited by tsunami followed by seiche waves as energy in the crater declined, culminating in a thin hemipelagic marlstone unit that contains atmospheric fallout. Seiche deposits are predominantly composed of calcite formed by decarbonation of the target limestone during impact followed by carbonation in the water column. Temperatures recorded by clumped isotopes of these carbonates are in excess of 70°C, with heat likely derived from the central impact melt pool. Yet, despite the turbidity and heat, waters within the nascent crater basin soon became a viable habitat for a remarkably diverse cross section of the food chain. The earliest seiche layers deposited with days or weeks of the impact contain earliest Danian nannoplankton and dinocyst survivors. The hemipelagic marlstone representing the subsequent years to a few millennia contains a nearly monogeneric calcareous dinoflagellate resting cyst assemblage suggesting deteriorating environmental conditions, with one interpretation involving low light levels in the impact aftermath. At the same horizon, microbial fossils indicate a thriving bacterial community and unique phosphatic fossils including appendages of pelagic crustaceans, coprolites andbacteria‐tunneled fish bone, suggesting that this rapid recovery of the base of the food chain may have supported the survival of larger, higher trophic‐level organisms. The extraordinarily diverse fossil assemblage indicates that the crater was a unique habitat in the immediate impact aftermath, possibly as aresult of heat and nutrients supplied by hydrothermal activity.
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- Chandler, Benjamin M. P., et al.
(författare)
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Sub‐annual moraine formation at an active temperate Icelandic glacier
- 2020
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Ingår i: Earth Surface Processes and Landforms. - : Wiley. - 0197-9337 .- 1096-9837. ; 45:7, s. 1622-1643
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Tidskriftsartikel (refereegranskat)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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- Chandler, Benjamin M. P., et al.
(författare)
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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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Ingår i: Geomorphology. - : Elsevier BV. - 0169-555X .- 1872-695X. ; 361
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Tidskriftsartikel (refereegranskat)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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- Seidel, Maria, et al.
(författare)
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Study protocol of comprehensive risk evaluation for anorexia nervosa in twins (CREAT) : a study of discordant monozygotic twins with anorexia nervosa.
- 2020
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Ingår i: BMC Psychiatry. - : BioMed Central. - 1471-244X. ; 20:1
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Anorexia nervosa (AN) is a severe disorder, for which genetic evidence suggests psychiatric as well as metabolic origins. AN has high somatic and psychiatric comorbidities, broad impact on quality of life, and elevated mortality. Risk factor studies of AN have focused on differences between acutely ill and recovered individuals. Such comparisons often yield ambiguous conclusions, as alterations could reflect different effects depending on the comparison. Whereas differences found in acutely ill patients could reflect state effects that are due to acute starvation or acute disease-specific factors, they could also reflect underlying traits. Observations in recovered individuals could reflect either an underlying trait or a "scar" due to lasting effects of sustained undernutrition and illness. The co-twin control design (i.e., monozygotic [MZ] twins who are discordant for AN and MZ concordant control twin pairs) affords at least partial disambiguation of these effects.METHODS: Comprehensive Risk Evaluation for Anorexia nervosa in Twins (CREAT) will be the largest and most comprehensive investigation of twins who are discordant for AN to date. CREAT utilizes a co-twin control design that includes endocrinological, neurocognitive, neuroimaging, genomic, and multi-omic approaches coupled with an experimental component that explores the impact of an overnight fast on most measured parameters.DISCUSSION: The multimodal longitudinal twin assessment of the CREAT study will help to disambiguate state, trait, and "scar" effects, and thereby enable a deeper understanding of the contribution of genetics, epigenetics, cognitive functions, brain structure and function, metabolism, endocrinology, microbiology, and immunology to the etiology and maintenance of AN.
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