| 1. |
- Stephan, K., et al.
(författare)
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Regions of interest on Ganymede's and Callisto's surfaces as potential targets for ESA's JUICE mission
- 2021
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Ingår i: Planetary and Space Science. - : Elsevier. - 0032-0633 .- 1873-5088. ; 208
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Tidskriftsartikel (refereegranskat)abstract
- The JUpiter Icy moons Explorer (JUICE) will investigate Ganymede's and Callisto's surfaces and subsurfaces from orbit to explore the geologic processes that have shaped and altered their surfaces by impact, tectonics, possible cryovolcanism, space weathering due to micrometeorites, radiation and charged particles as well as explore the structure and properties of the icy crust and liquid shell (Grasset et al., 2013). The best possible synergy of the JUICE instruments is required to answer the major science objective of this mission and to fully exploit the po-tential of the JUICE mission. Therefore, the JUICE team is aiming to define high priority targets on both Gany-mede's and Callisto's surfaces to support the coordination of the planning activities by the individual instrument teams. Based on the science objectives of the JUICE mission and the most recent knowledge of Ganymede's and Callisto's geologic evolution we propose a collection of Regions of Interest (RoIs), which characterize surface features and terrain types representing important traces of geologic processes, from past and/or present cryovolcanic and tectonic activity to space weathering processes, which are crucial to understand the geologic evolution of Ganymede and Callisto. The proposed evaluation of RoIs is based on their scientific importance as well as on the opportunities and conditions to observe them during the currently discussed mission profile.
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| 2. |
- Chubb, Daniel, et al.
(författare)
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Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk
- 2013
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 45:10, s. 366-1221
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Tidskriftsartikel (refereegranskat)abstract
- To identify variants for multiple myeloma risk, we conducted a genome-wide association study with validation in additional series totaling 4,692 individuals with multiple myeloma (cases) and 10,990 controls. We identified four risk loci at 3q26.2 (rs10936599, P = 8.70 x 10(-14)), 6p21.33 (rs2285803, PSORS1C2, P = 9.67 x 10(-11)), 17p11.2 (rs4273077, TNFRSF13B, P = 7.67 x 10(-9)) and 22q13.1 (rs877529, CBX7, P = 7.63 x 10(-16)). These data provide further evidence for genetic susceptibility to this B-cell hematological malignancy, as well as insight into the biological basis of predisposition.
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| 3. |
- Li, Jian-Yang, et al.
(författare)
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Ejecta from the DART-produced active asteroid Dimorphos
- 2023
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Ingår i: Nature. - : Springer Nature. - 0028-0836 .- 1476-4687. ; 616, s. 452-456
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Tidskriftsartikel (refereegranskat)abstract
- Some active asteroids have been proposed to be formed as a result of impact events1. Because active asteroids are generally discovered by chance only after their tails have fully formed, the process of how impact ejecta evolve into a tail has, to our knowledge, not been directly observed. The Double Asteroid Redirection Test (DART) mission of NASA2, in addition to having successfully changed the orbital period of Dimorphos3, demonstrated the activation process of an asteroid resulting from an impact under precisely known conditions. Here we report the observations of the DART impact ejecta with the Hubble Space Telescope from impact time T + 15 min to T + 18.5 days at spatial resolutions of around 2.1 km per pixel. Our observations reveal the complex evolution of the ejecta, which are first dominated by the gravitational interaction between the Didymos binary system and the ejected dust and subsequently by solar radiation pressure. The lowest-speed ejecta dispersed through a sustained tail that had a consistent morphology with previously observed asteroid tails thought to be produced by an impact4,5. The evolution of the ejecta after the controlled impact experiment of DART thus provides a framework for understanding the fundamental mechanisms that act on asteroids disrupted by a natural impact1,6.
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| 4. |
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| 5. |
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| 6. |
- Mitchell, Jonathan S., et al.
(författare)
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Genome-wide association study identifies multiple susceptibility loci for multiple myeloma
- 2016
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 7
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Tidskriftsartikel (refereegranskat)abstract
- Multiple myeloma (MM) is a plasma cell malignancy with a significant heritable basis. Genome-wide association studies have transformed our understanding of MM predisposition, but individual studies have had limited power to discover risk loci. Here we perform a meta-analysis of these GWAS, add a new GWAS and perform replication analyses resulting in 9,866 cases and 239,188 controls. We confirm all nine known risk loci and discover eight new loci at 6p22.3 (rs34229995, P = 1.31 x 10(-8)), 6q21 (rs9372120, P = 9.09 x 10(-15)), 7q36.1 (rs7781265, P = 9.71 x 10(-9)), 8q24.21 (rs1948915, P = 4.20 x 10(-11)), 9p21.3 (rs2811710, P = 1.72 x 10(-13)), 10p12.1 (rs2790457, P = 1.77 x 10(-8)), 16q23.1 (rs7193541, P = 5.00 x 10(-12)) and 20q13.13 (rs6066835, P = 1.36 x 10(-13)), which localize in or near to JARID2, ATG5, SMARCD3, CCAT1, CDKN2A, WAC, RFWD3 and PREX1. These findings provide additional support for a polygenic model of MM and insight into the biological basis of tumour development.
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| 7. |
- Bader, Erik, et al.
(författare)
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Identification of proliferative and mature beta-cells in the islets of Langerhans
- 2016
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 535:7612, s. 430-
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Tidskriftsartikel (refereegranskat)abstract
- Insulin-dependent diabetes is a complex multifactorial disorder characterized by loss or dysfunction of beta-cells. Pancreatic beta-cells differ in size, glucose responsiveness, insulin secretion and precursor cell potential(1-5); understanding the mechanisms that underlie this functional heterogeneity might make it possible to develop new regenerative approaches. Here we show that Fltp (also known as Flattop and Cfap126), a Wnt/planar cell polarity (PCP) effector and reporter gene(6), acts as a marker gene that subdivides endocrine cells into two subpopulations and distinguishes proliferation-competent from mature beta-cells with distinct molecular, physiological and ultrastructural features. Genetic lineage tracing revealed that endocrine subpopulations from Fltp-negative and -positive lineages react differently to physiological and pathological changes. The expression of Fltp increases when endocrine cells cluster together to form polarized and mature 3D islet mini-organs(7-9). We show that 3D architecture and Wnt/PCP ligands are sufficient to trigger beta-cell maturation. By contrast, the Wnt/PCP effector Fltp is not necessary for beta-cell development, proliferation or maturation. We conclude that 3D architecture and Wnt/PCP signalling underlie functional beta-cell heterogeneity and induce beta-cell maturation. The identification of Fltp as a marker for endocrine subpopulations sheds light on the molecular underpinnings of islet cell heterogeneity and plasticity and might enable targeting of endocrine subpopulations for the regeneration of functional beta-cell mass in diabetic patients.
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| 8. |
- Jager, R, et al.
(författare)
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Capture Hi-C identifies the chromatin interactome of colorectal cancer risk loci
- 2015
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Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 6, s. 6178-
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Tidskriftsartikel (refereegranskat)abstract
- Multiple regulatory elements distant from their targets on the linear genome can influence the expression of a single gene through chromatin looping. Chromosome conformation capture implemented in Hi-C allows for genome-wide agnostic characterization of chromatin contacts. However, detection of functional enhancer–promoter interactions is precluded by its effective resolution that is determined by both restriction fragmentation and sensitivity of the experiment. Here we develop a capture Hi-C (cHi-C) approach to allow an agnostic characterization of these physical interactions on a genome-wide scale. Single-nucleotide polymorphisms associated with complex diseases often reside within regulatory elements and exert effects through long-range regulation of gene expression. Applying this cHi-C approach to 14 colorectal cancer risk loci allows us to identify key long-range chromatin interactions in cis and trans involving these loci.
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| 9. |
- Maffulli, N., et al.
(författare)
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Free tendon grafts for surgical management of chronic tears of the main body of the Achilles tendon: a systematic review
- 2023
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Ingår i: Knee Surgery Sports Traumatology Arthroscopy. - 0942-2056. ; 31:10, s. 4526-38
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Tidskriftsartikel (refereegranskat)abstract
- PurposeAfter four weeks from injury, tears of the Achilles tendon are considered chronic. Their management is challenging, and the use of a graft is suggested when the gap between proximal and distal stumps is greater than 6 cm. The present study systematically reviews the outcome of free tendon grafts in chronic ruptures of the Achilles tendon, evaluating clinical outcomes, complications and return to sport.MethodsThe present study was conducted according to the PRISMA 2020 guidelines. PubMed, Google Scholar, Embase, and Web of Science databases were accessed in February 2023. All the published clinical studies reporting clinical outcome, return to sport and complications of free tendon grafts used the treatment of chronic rupture of the midportion of the Achilles Tendon were accessed. The mean CMS (Coleman Methodology Score) of 65.7 suggested an overall good quality of the available published articles, attesting to the low risk of bias.ResultsData from 22 articles (368 patients with a mean age of 47 years) were retrieved. The average time from rupture to surgery was 25.1 week. At last follow-up, the AOFAS (American Orthopaedic Foot and Ankle Surgery) and ATRS (Achilles Tendon Total Rupture Score) scores improved of 33.8 (P = 0.0004), and 45.1 points (P = 0.0001) respectively. Return to activity was reported in 105 patients, and 82 (78.1%) had no activity limitations, while 19 (18.1%) had limited recreational but not daily activity limitations, and 4 (3.8%) reported limitations in daily activities. Return to sport data was reported in six studies, and 45 of 93 (48.4%) patients returned to sport at an average of 22.6 weeks.ConclusionIn chronic tears of the Achilles tendon, with a gap of at least 6 cm, free tendon grafts allow predictable return to sport and acceptable recovery function.
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| 10. |
- Migliorini, Gabriele, et al.
(författare)
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Variation at 10p12.2 and 10p14 influences risk of childhood B-cell acute lymphoblastic leukemia and phenotype
- 2013
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Ingår i: Blood. - : American Society of Hematology. - 1528-0020 .- 0006-4971. ; 122:19, s. 3298-3307
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Tidskriftsartikel (refereegranskat)abstract
- Acute lymphoblastic leukemia (ALL) is the major pediatric cancer diagnosed in economically developed countries with B-cell precursor (BCP)-ALL, accounting for approximately 70% of ALL. Recent genome-wide association studies (GWAS) have provided the first unambiguous evidence for common inherited susceptibility to BCP-ALL, identifying susceptibility loci at 7p12.2, 9p21.3, 10q21.2, and 14q11.2. To identify additional BCP-ALL susceptibility loci, we conducted a GWAS and performed a meta-analysis with a published GWAS totaling 1658 cases and 4723 controls, with validation in 1449 cases and 1488 controls. Combined analysis identified novel loci mapping to 10p12.2 (rs10828317, odds ratio [OR] = 1.23; P = 2.30 x 10(-9)) and 10p14marked by rs3824662(OR = 1.31; P = 8.62 x 10(-12)). The single nucleotide polymorphism rs10828317 is responsible for the N215S polymorphism in exon 7 of PIP4K2A, and rs3824662 localizes to intron 3 of the transcription factor and putative tumor suppressor gene GATA3. The rs10828317 association was shown to be specifically associated with hyperdiploid ALL, whereas the rs3824662-associated risk was confined to nonhyperdiploid non-TEL-AML1 + ALL. The risk allele of rs3824662 was correlated with older age at diagnosis (P < .001) and significantly worse event-free survivorship (P < .0001). These findings provide further insights into the genetic and biological basis of inherited genetic susceptibility to BCP-ALL and the influence of constitutional genotype on disease development.
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