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Sökning: WFRF:(Hübner H)

  • Resultat 1-25 av 79
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  • Rajewsky, N., et al. (författare)
  • LifeTime and improving European healthcare through cell-based interceptive medicine
  • 2020
  • Ingår i: Nature. - : Springer Nature. - 0028-0836 .- 1476-4687. ; 587:7834, s. 377-386
  • Tidskriftsartikel (refereegranskat)abstract
    • LifeTime aims to track, understand and target human cells during the onset and progression of complex diseases and their response to therapy at single-cell resolution. This mission will be implemented through the development and integration of single-cell multi-omics and imaging, artificial intelligence and patient-derived experimental disease models during progression from health to disease. Analysis of such large molecular and clinical datasets will discover molecular mechanisms, create predictive computational models of disease progression, and reveal new drug targets and therapies. Timely detection and interception of disease embedded in an ethical and patient-centered vision will be achieved through interactions across academia, hospitals, patient-associations, health data management systems and industry. Applying this strategy to key medical challenges in cancer, neurological, infectious, chronic inflammatory and cardiovascular diseases at the single-cell level will usher in cell-based interceptive medicine in Europe over the next decade.
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  • Sungnak, W., et al. (författare)
  • SARS-CoV-2 entry factors are highly expressed in nasal epithelial cells together with innate immune genes
  • 2020
  • Ingår i: Nature Medicine. - : Nature Research. - 1078-8956 .- 1546-170X. ; 26:5, s. 681-687
  • Tidskriftsartikel (refereegranskat)abstract
    • We investigated SARS-CoV-2 potential tropism by surveying expression of viral entry-associated genes in single-cell RNA-sequencing data from multiple tissues from healthy human donors. We co-detected these transcripts in specific respiratory, corneal and intestinal epithelial cells, potentially explaining the high efficiency of SARS-CoV-2 transmission. These genes are co-expressed in nasal epithelial cells with genes involved in innate immunity, highlighting the cells’ potential role in initial viral infection, spread and clearance. The study offers a useful resource for further lines of inquiry with valuable clinical samples from COVID-19 patients and we provide our data in a comprehensive, open and user-friendly fashion at www.covid19cellatlas.org. 
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  • Di Nitto, A., et al. (författare)
  • Study of Non-fusion Products in the 50Ti+249Cf Reaction
  • 2018
  • Ingår i: Physics Letters, Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier BV. - 0370-2693. ; 784, s. 199-205
  • Tidskriftsartikel (refereegranskat)abstract
    • The isotopic distribution of nuclei produced in the 50Ti + 249Cf reaction has been studied at the gas-filled recoil separator TASCA at GSI Darmstadt, which separates ions according to differences in magnetic rigidity. The bombardment was performed at an energy around the Bass barrier and with the TASCA magnetic fields set for collecting fusion-evaporation reaction products. Fifty-three isotopes located “north-east” of 208Pb were identified as recoiling products formed in non-fusion channels of the reaction. These recoils were implanted with energies in two distinct ranges; besides one with higher energy, a significant low-energy contribution was identified. The latter observation was not expected to occur according to kinematics of the known types of reactions, namely quasi-elastic, multi-nucleon transfer, deep-inelastic collisions or quasifission. The present observations are discussed within the framework of two-body kinematics passing through the formation of a composite system.
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  • Grosche, S, et al. (författare)
  • Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4
  • 2021
  • Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 12:1, s. 6618-
  • Tidskriftsartikel (refereegranskat)abstract
    • Previous genome-wide association studies revealed multiple common variants involved in eczema but the role of rare variants remains to be elucidated. Here, we investigate the role of rare variants in eczema susceptibility. We meta-analyze 21 study populations including 20,016 eczema cases and 380,433 controls. Rare variants are imputed with high accuracy using large population-based reference panels. We identify rare exonic variants in DUSP1, NOTCH4, and SLC9A4 to be associated with eczema. In DUSP1 and NOTCH4 missense variants are predicted to impact conserved functional domains. In addition, five novel common variants at SATB1-AS1/KCNH8, TRIB1/LINC00861, ZBTB1, TBX21/OSBPL7, and CSF2RB are discovered. While genes prioritized based on rare variants are significantly up-regulated in the skin, common variants point to immune cell function. Over 20% of the single nucleotide variant-based heritability is attributable to rare and low-frequency variants. The identified rare/low-frequency variants located in functional protein domains point to promising targets for novel therapeutic approaches to eczema.
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  • Khuyagbaatar, J., et al. (författare)
  • 48Ca+249Bk Fusion Reaction Leading to Element Z=117: Long-Lived α-Decaying 270Db and Discovery of 266Lr
  • 2014
  • Ingår i: Physical Review Letters. - 1079-7114. ; 112:17
  • Tidskriftsartikel (refereegranskat)abstract
    • The superheavy element with atomic number Z=117 was produced as an evaporation residue in the 48Ca+249Bk fusion reaction at the gas-filled recoil separator TASCA at GSI Darmstadt, Germany. The radioactive decay of evaporation residues and their α-decay products was studied using a detection setup that allowed measuring decays of single atomic nuclei with half-lives between sub-μs and a few days. Two decay chains comprising seven α decays and a spontaneous fission each were identified and are assigned to the isotope 294-117 and its decay products. A hitherto unknown α-decay branch in 270Db (Z=105) was observed, which populated the new isotope 266Lr (Z=103). The identification of the long-lived (T1/2=1.0+1.9−0.4 h) α-emitter 270Db marks an important step towards the observation of even more long-lived nuclei of superheavy elements located on an “island of stability.”
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  • Khuyagbaatar, J., et al. (författare)
  • Fusion reaction 48Ca + 249Bk leading to formation of the element Ts (Z=117)
  • 2019
  • Ingår i: Physical Review C. - 2469-9985. ; 99:5
  • Tidskriftsartikel (refereegranskat)abstract
    • The heaviest currently known nuclei, which have up to 118 protons, have been produced in 48Ca induced reactions with actinide targets. Among them, the element tennessine (Ts), which has 117 protons, has been synthesized by fusing 48Ca with the radioactive target 249Bk, which has a half-life of 327 d. The experiment was performed at the gas-filled recoil separator TASCA. Two long and two short α decay chains were observed. The long chains were attributed to the decay of 294Ts. The possible origin of the short-decay chains is discussed in comparison with the known experimental data. They are found to fit with the decay chain patterns attributed to 293Ts. The present experimental results confirm the previous findings at the Dubna Gas-Filled Recoil Separator on the decay chains originating from the nuclei assigned to Ts.
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  • Khuyagbaatar, J., et al. (författare)
  • Search for elements 119 and 120
  • 2020
  • Ingår i: Physical Review C. - 2469-9985. ; 102:6
  • Tidskriftsartikel (refereegranskat)abstract
    • A search for production of the superheavy elements with atomic numbers 119 and 120 was performed in the 50Ti+249Bk and 50Ti+249Cf fusion-evaporation reactions, respectively, at the gas-filled recoil separator TASCA at GSI Darmstadt, Germany. Over four months of irradiation, the 249Bk target partially decayed into 249Cf, which allowed for a simultaneous search for both elements. Neither was detected at cross-section sensitivity levels of 65 and 200 fb for the 50Ti+249Bk and 50Ti+249Cf reactions, respectively, at a midtarget beam energy of Elab = 281.5 MeV. The nonobservation of elements 119 and 120 is discussed within the concept of fusion-evaporation reactions including various theoretical predictions on the fission-barrier heights of superheavy nuclei in the region of the island of stability.
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  • Brucker, S. Y., et al. (författare)
  • Living-Donor Uterus Transplantation: Pre-, Intra-, and Postoperative Parameters Relevant to Surgical Success, Pregnancy, and Obstetrics with Live Births
  • 2020
  • Ingår i: Journal of Clinical Medicine. - : MDPI AG. - 2077-0383. ; 9:8
  • Tidskriftsartikel (refereegranskat)abstract
    • Uterus transplantation (UTx) can provide a route to motherhood for women with Mayer-Rokitansky-Kuster-Hauser syndrome (MRKHS), a congenital disorder characterized by uterovaginal aplasia, but with functional ovaries. Based on our four successful living-donor transplantations and two resulting births, this analysis presents parameters relevant to standardizing recipient/donor selection, UTx surgery, and postoperative treatment, and their implementation in routine settings. We descriptively analyzed prospectively collected observational data from our four uterus recipients, all with MRKHS, their living donors, and the two newborns born to two recipients, including 1-year postnatal follow-ups. Analysis included only living-donor/recipient pairs with completed donor/recipient surgery. Two recipients, both requiring ovarian restimulation under immunosuppression after missed pregnancy loss in one case and no pregnancy in the other, each delivered a healthy boy by cesarean section. We conclude that parameters crucial to successful transplantation, pregnancy, and childbirth include careful selection of donor/recipient pairs, donor organ quality, meticulous surgical technique, a multidisciplinary team approach, and comprehensive follow-up. Surgery duration and blood vessel selection await further optimization, as do the choice and duration of immunosuppression, which are crucial to timing the first embryo transfer. Data need to be collected in an international registry due to the low prevalence of MRKHS.
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  • Gustafsson, U. O., et al. (författare)
  • Guidelines for Perioperative Care in Elective Colorectal Surgery : Enhanced Recovery After Surgery (ERAS®) Society Recommendations: 2018
  • 2019
  • Ingår i: World Journal of Surgery. - : Springer. - 0364-2313 .- 1432-2323. ; 43:3, s. 659-695
  • Forskningsöversikt (refereegranskat)abstract
    • Background: This is the fourth updated Enhanced Recovery After Surgery (ERAS®) Society guideline presenting a consensus for optimal perioperative care in colorectal surgery and providing graded recommendations for each ERAS item within the ERAS® protocol.Methods: A wide database search on English literature publications was performed. Studies on each item within the protocol were selected with particular attention paid to meta-analyses, randomised controlled trials and large prospective cohorts and examined, reviewed and graded according to Grading of Recommendations, Assessment, Development and Evaluation (GRADE) system.Results: All recommendations on ERAS® protocol items are based on best available evidence; good-quality trials; meta-analyses of good-quality trials; or large cohort studies. The level of evidence for the use of each item is presented accordingly.Conclusions: The evidence base and recommendation for items within the multimodal perioperative care pathway are presented by the ERAS® Society in this comprehensive consensus review.
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  • Khuyagbaatar, J., et al. (författare)
  • New Short-Lived Isotope 221U and the Mass Surface Near N=126
  • 2015
  • Ingår i: Physical Review Letters. - 1079-7114. ; 115:24
  • Tidskriftsartikel (refereegranskat)abstract
    • Two short-lived isotopes 221U and 222U were produced as evaporation residues in the fusion reaction 50Ti+176Yb at the gas-filled recoil separator TASCA. An α decay with an energy of Eα=9.31(5) MeV and half-life T1/2=4.7(7) μs was attributed to 222U. The new isotope 221U was identified in α-decay chains starting with Eα=9.71(5) MeV and T1/2=0.66(14) μs leading to known daughters. Synthesis and detection of these unstable heavy nuclei and their descendants were achieved thanks to a fast data readout system. The evolution of the N=126 shell closure and its influence on the stability of uranium isotopes are discussed within the framework of α-decay reduced width.
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  • Marenholz, I, et al. (författare)
  • Meta-analysis identifies seven susceptibility loci involved in the atopic march
  • 2015
  • Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 6, s. 8804-
  • Tidskriftsartikel (refereegranskat)abstract
    • Eczema often precedes the development of asthma in a disease course called the ‘atopic march’. To unravel the genes underlying this characteristic pattern of allergic disease, we conduct a multi-stage genome-wide association study on infantile eczema followed by childhood asthma in 12 populations including 2,428 cases and 17,034 controls. Here we report two novel loci specific for the combined eczema plus asthma phenotype, which are associated with allergic disease for the first time; rs9357733 located in EFHC1 on chromosome 6p12.3 (OR 1.27; P=2.1 × 10−8) and rs993226 between TMTC2 and SLC6A15 on chromosome 12q21.3 (OR 1.58; P=5.3 × 10−9). Additional susceptibility loci identified at genome-wide significance are FLG (1q21.3), IL4/KIF3A (5q31.1), AP5B1/OVOL1 (11q13.1), C11orf30/LRRC32 (11q13.5) and IKZF3 (17q21). We show that predominantly eczema loci increase the risk for the atopic march. Our findings suggest that eczema may play an important role in the development of asthma after eczema.
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