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Sökning: WFRF:(Hellmann H. M.)

  • Resultat 1-10 av 14
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1.
  • Ji, Xuemei, et al. (författare)
  • Protein-altering germline mutations implicate novel genes related to lung cancer development
  • 2020
  • Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 11:1
  • Tidskriftsartikel (refereegranskat)abstract
    • Few germline mutations are known to affect lung cancer risk. We performed analyses of rare variants from 39,146 individuals of European ancestry and investigated gene expression levels in 7,773 samples. We find a large-effect association with an ATM L2307F (rs56009889) mutation in adenocarcinoma for discovery (adjusted Odds Ratio=8.82, P=1.18x10(-15)) and replication (adjusted OR=2.93, P=2.22x10(-3)) that is more pronounced in females (adjusted OR=6.81 and 3.19 and for discovery and replication). We observe an excess loss of heterozygosity in lung tumors among ATM L2307F allele carriers. L2307F is more frequent (4%) among Ashkenazi Jewish populations. We also observe an association in discovery (adjusted OR=2.61, P=7.98x10(-22)) and replication datasets (adjusted OR=1.55, P=0.06) with a loss-of-function mutation, Q4X (rs150665432) of an uncharacterized gene, KIAA0930. Our findings implicate germline genetic variants in ATM with lung cancer susceptibility and suggest KIAA0930 as a novel candidate gene for lung cancer risk. In lung cancer, relatively few germline mutations are known to impact risk. Here the authors looked at rare variants in 39,146 individuals and find novel germline mutations associated with risk, as well as implicating ATM and a new candidate gene for lung cancer risk.
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2.
  • Silveira-Maia, M., et al. (författare)
  • Framework for an inclusive-oriented pedagogical assessment
  • 2023
  • Rapport (övrigt vetenskapligt/konstnärligt)abstract
    • This book resulted from the Work Package 1 (WP1) of the Inclusive Assessment Map project – so-called I AM project. I AM is an Erasmus+ funded project (Agreement No. 621435-EPP-1-2020-1-AT- EPPKA3-IPI-SOC-IN) that aims to develop – based on the Internacional Classification of Functioning, Disability and Health for Children and Youth (ICF-CY) – an innovative assessment tool that provides teachers with guidance on how to create school environments in order to be inclusive places. The partner countries are: Austria, Germany, Sweden, Norway, Belgium and Portugal. By identifying the common trends on inclusive education policies of the 4 involved countries and by revising evidence-based supports linked with students’ participation, this book presents a good practices analysis of inclusive-oriented assessment and supports implementation within educational contexts.
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3.
  • Hellmann, S., et al. (författare)
  • Time-resolved x-ray photoelectron spectroscopy at FLASH
  • 2012
  • Ingår i: New Journal of Physics. - : IOP Publishing. - 1367-2630. ; 14
  • Tidskriftsartikel (refereegranskat)abstract
    • The technique of time-resolved pump-probe x-ray photoelectron spectroscopy using the free-electron laser in Hamburg (FLASH) is described in detail. Particular foci lie on the macrobunch resolving detection scheme, the role of vacuum space-charge effects and the synchronization of pump and probe lasers. In an exemplary case study, the complete Ta 4f core-level dynamics in the layered charge-density-wave (CDW) compound 1T-TaS2 in response to impulsive optical excitation is measured on the sub-picosecond to nanosecond timescale. The observed multi-component dynamics is related to the intrinsic melting and reformation of the CDW as well as to extrinsic pump-laser-induced vacuum space-charge effects.
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4.
  • Hellmann, S., et al. (författare)
  • Ultrafast Melting of a Charge-Density Wave in the Mott Insulator 1T-TaS2
  • 2010
  • Ingår i: Physical Review Letters. - 1079-7114. ; 105:18
  • Tidskriftsartikel (refereegranskat)abstract
    • Femtosecond time-resolved core-level photoemission spectroscopy with a free-electron laser is used to measure the atomic-site specific charge-order dynamics of the charge-density wave in the Mott insulator 1T-TaS2. After strong photoexcitation, a prompt loss of charge order and subsequent fast equilibration dynamics of the electron-lattice system are observed. On the time scale of electron-phonon thermalization, about 1 ps, the system is driven across a phase transition from a long-range charge ordered state to a quasiequilibrium state with domainlike short-range charge and lattice order. The experiment opens the way to study the nonequilibrium dynamics of condensed matter systems with full elemental, chemical, and atomic-site selectivity.
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6.
  • Hutton, R., et al. (författare)
  • Lifetimes of some low-lying levels in ni xvii
  • 1987
  • Ingår i: Physica Scripta. - : IOP Publishing. - 0031-8949 .- 1402-4896. ; 35:3, s. 300-302
  • Tidskriftsartikel (refereegranskat)abstract
    • Using the method of beam-foil spectroscopy we have measured the decay times of several n = 3 terms in Mg-like Ni XVII. By applying an effective method for correction of cascades (ANDC) we obtained reliable lifetimes for the terms 3s3p1P, 3s3p3P, 3p21D and 3p2 3P. The experimental data are in good agreement with recent theoretically predicted values.
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10.
  • Hoffmann, V. S., et al. (författare)
  • The EUTOS population-based registry : incidence and clinical characteristics of 2904 CML patients in 20 European Countries
  • 2015
  • Ingår i: Leukemia. - : Springer Science and Business Media LLC. - 0887-6924 .- 1476-5551. ; 29:6, s. 1336-1343
  • Tidskriftsartikel (refereegranskat)abstract
    • This population-based registry was designed to provide robust and updated information on the characteristics and the epidemiology of chronic myeloid leukemia (CML). All cases of newly diagnosed Philadelphia positive, BCR-ABL1+ CML that occurred in a sample of 92.5 million adults living in 20 European countries, were registered over a median period of 39 months. 94.3% of the 2904 CML patients were diagnosed in chronic phase (CP). Median age was 56 years. 55.5% of patients had comorbidities, mainly cardiovascular (41.9%). High-risk patients were 24.7% by Sokal, 10.8% by EURO, and 11.8% by EUTOS risk scores. The raw incidence increased with age from 0.39/100 000/year in people 20-29 years old to 1.52 in those >70 years old, and showed a maximum of 1.39 in Italy and a minimum of 0.69 in Poland (all countries together: 0.99). The proportion of Sokal and Euro score high-risk patients seen in many countries indicates that trial patients were not a positive selection. Thus from a clinical point of view the results of most trials can be generalized to most countries. The incidences observed among European countries did not differ substantially. The estimated number of new CML cases per year in Europe is about 6370.
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