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Sökning: (WFRF:(Kaiser M)) srt2:(2015-2019) > (2016)

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1.
  • Eiteneer, D., et al. (författare)
  • Depth-Resolved Composition and Electronic Structure of Buried Layers and Interfaces in a LaNiO3/SrTiO3 Superlatticefroni Soft- and Hard-X-ray Standing-Wave Angle-Resolved Photoemission
  • 2016
  • Ingår i: Journal of Electron Spectroscopy and Related Phenomena. - : Elsevier BV. - 0368-2048 .- 1873-2526. ; 211, s. 70-81
  • Tidskriftsartikel (refereegranskat)abstract
    • LaNiO3 (LNO) is an intriguing member of the rare-earth nickelates in exhibiting a metal-insulator transition for a critical film thickness of about 4 unit cells [Son et al., Appl. Phys. Lett. 96, 062114 (2010)]; however, such thin films also show a transition to a metallic state in superlattices with SrTiO3 (STO) [Son et al., Appl. Phys. Lett. 97, 202109 (2010)]. In order to better understand this transition, we have studied a strained LNO/STO superlattice with 10 repeats of [4 unit-cell LNO/3 unit-cell STO] grown on an (LaAlO3)(0.3)(Sr2AlTaO6)(0.7) substrate using soft x-ray standing-wave-excited angle-resolved photoemission (SWARPES), together with soft- and hard- x-ray photoemission-measurements of core levels and densities-of-states valence spectra. The experimental results are compared with state-of-the-art density functional theory (DFT) calculations of band structures and densities of states. Using core-level rocking curves and x-ray optical modeling to assess the position of the standing wave, SWARPES measurements are carried out for various incidence angles and used to determine interface-specific changes in momentum-resolved electronic structure. We further show that the momentum-resolved behavior of the Ni 3d e(g) and t(2g) states near the Fermi level, as well as those at the bottom of the valence bands, is very similar to recently published SWARPES results for a related La0.7Sr0.3MnO3/SrTiO3 superlattice that was-studied using the same technique (Gray et al., Europhysics Letters 104, 17004 (2013)), which further validates this experimental approach and our conclusions. Our conclusions are also supported in several ways by comparison to DFT calculations for the parent materials and the superlattice, including layer-resolved density-of-states results.
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  • Johnson, D C, et al. (författare)
  • Genetic factors influencing the risk of multiple myeloma bone disease.
  • 2016
  • Ingår i: Leukemia. - : Springer Science and Business Media LLC. - 1476-5551 .- 0887-6924. ; 30, s. 883-888
  • Tidskriftsartikel (refereegranskat)abstract
    • A major complication of multiple myeloma (MM) is the development of osteolytic lesions, fractures and bone pain. To identify genetic variants influencing the development of MM bone disease (MBD), we analyzed MM patients of European ancestry (totalling 3774) which had been radiologically surveyed for MBD. Each patient had been genotyped for ~600 000 SNPs with genotypes for six million common variants imputed using 1000Genomes Project and UK10K as reference. We identified a locus at 8q24.12 for MBD (rs4407910, OPG/TNFRSF11B, odds ratio [OR]=1.38, P=4.09 × 10(-9)) and a promising association at 19q13.43 (rs74676832, OR=1.97, P=9.33 × 10(-7)). Our findings demonstrate that germline variation influences MBD and highlights the importance of RANK/RANKL/OPG pathway in MBD development. These findings will contribute to the development of future strategies for prevention of MBD in the early precancerous phases of MM.Leukemia accepted article preview online, 16 December 2015. doi:10.1038/leu.2015.342.
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4.
  • Parenti, I., et al. (författare)
  • Expanding the clinical spectrum of the "HDAC8-phenotype - implications for molecular diagnostics, counseling and risk prediction
  • 2016
  • Ingår i: Clinical Genetics. - : WILEY-BLACKWELL. - 0009-9163 .- 1399-0004. ; 89:5, s. 564-573
  • Tidskriftsartikel (refereegranskat)abstract
    • Cornelia de Lange syndrome (CdLS) is a clinically heterogeneous disorder characterized by typical facial dysmorphism, cognitive impairment and multiple congenital anomalies. Approximately 75% of patients carry a variant in one of the five cohesin-related genes NIPBL, SMC1A, SMC3, RAD21 and HDAC8. Herein we report on the clinical and molecular characterization of 11 patients carrying 10 distinct variants in HDAC8. Given the high number of variants identified so far, we advise sequencing of HDAC8 as an indispensable part of the routine molecular diagnostic for patients with CdLS or CdLS-overlapping features. The phenotype of our patients is very broad, whereas males tend to be more severely affected than females, who instead often present with less canonical CdLS features. The extensive clinical variability observed in the heterozygous females might be at least partially associated with a completely skewed X-inactivation, observed in seven out of eight female patients. Our cohort also includes two affected siblings whose unaffected mother was found to be mosaic for the causative mutation inherited to both affected children. This further supports the urgent need for an integration of highly sensitive sequencing technology to allow an appropriate molecular diagnostic, genetic counseling and risk prediction.
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5.
  • Glover, AG, et al. (författare)
  • The London Workshop on the Biogeography and Connectivity of the Clarion-Clipperton Zone
  • 2016
  • Ingår i: Research Ideas and Outcomes. - : Pensoft Publishers. - 2367-7163. ; 2
  • Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
    • Background Recent years have seen a rapid increase in survey and sampling expeditions to the Clarion-Clipperton Zone (CCZ) abyssal plain, a vast area of the central Pacific that is currently being actively explored for deep-sea minerals (ISA, 2016). Critical to the development of evidence-based environmental policy in the CCZ are data on the biogeography and connectivity of species at a CCZ-regional level. New information The London Workshop on the Biogeography and Connectivity of the CCZ was convened to support the integration and synthesis of data from European Union (EU) CCZ projects, supported by the EU Managing Impacts of Deep-Sea Resource Exploitation (MIDAS) and EU Joint Programming Initiative Healthy and Productive Seas and Oceans (JPI Oceans) projects. The London Workshop had three clear goals: (1) To explore, review and synthesise the latest molecular biogeography and connectivity data from across recent CCZ cruises from both contractor and academia-funded projects; (2) To develop complementary and collaborative institutional and program-based academic publication plans to avoid duplication of effort and ensure maximum collaborative impact; (3) To plan a joint synthetic data publication highlighting key results from a range of planned molecular biogeography/connectivity publications. 32 participants attended the workshop at the Natural History Museum in London from 10-12 May 2016. Presentations and discussions are summarised in this report covering (1) overviews of current CCZ environmental projects, (2) policy and industry perspectives, (3) synthesis of DNA taxonomy and biogeography studies, (4) summaries of the latest population genetic studies, (5) summaries of the latest broader morphological context, (6) an overview of publication and proposal plans to maximise collaborative opportunities and finally a series of workshop recommendations.
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  • Lunnan, R., et al. (författare)
  • PS1-14bj : A HYDROGEN-POOR SUPERLUMINOUS SUPERNOVA WITH A LONG RISE AND SLOW DECAY
  • 2016
  • Ingår i: Astrophysical Journal. - 0004-637X .- 1538-4357. ; 831:2
  • Tidskriftsartikel (refereegranskat)abstract
    • We present photometry and spectroscopy of PS1-14bj, a hydrogen-poor superluminous supernova (SLSN) at redshift z = 0.5215 discovered in the last months of the Pan-STARRS1 Medium Deep Survey. PS1-14bj stands out because of its extremely slow evolution, with an observed rise of greater than or similar to 125 rest-frame days, and exponential decline out to similar to 250 days past peak at a measured rate of 0.01 mag day(-1), consistent with fully trapped Co-56 decay. This is the longest rise time measured in an SLSN to date, and the first SLSN to show a rise time consistent with pair-instability supernova (PISN) models. Compared to other slowly evolving SLSNe, it is spectroscopically similar to the prototype SN 2007bi at maximum light, although lower in luminosity (L-peak similar or equal to 4.6 x 10(43) erg s(-1) ) and with a flatter peak than previous events. PS1-14bj shows a number of peculiar properties, including a near-constant color temperature for > 200 days past peak, and strong emission lines from [O III] lambda 5007 and [O III] lambda 4363 with a velocity width of similar to 3400 km s(-1) in its late-time spectra. These both suggest there is a sustained source of heating over very long timescales, and are incompatible with a simple Ni-56-powered/PISN interpretation. A modified magnetar model including emission leakage at late times can reproduce the light curve, in which case the blue continuum and [O III] features are interpreted as material heated and ionized by the inner pulsar wind nebula becoming visible at late times. Alternatively, the late-time heating could be due to interaction with a shell of H-poor circumstellar material.
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  • Mitchell, Jonathan S., et al. (författare)
  • Genome-wide association study identifies multiple susceptibility loci for multiple myeloma
  • 2016
  • Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 7
  • 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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  • Dimopoulos, Meletios A., et al. (författare)
  • Safety and efficacy of pomalidomide plus low-dose dexamethasone in STRATUS (MM-010) : A phase 3b study in refractory multiple myeloma
  • 2016
  • Ingår i: Blood. - : American Society of Hematology. - 0006-4971 .- 1528-0020. ; 128:4, s. 497-503
  • Tidskriftsartikel (refereegranskat)abstract
    • Patients with relapsed and/or refractory multiple myeloma (RRMM) have poor prognosis. The STRATUS study assessed safety and efficacy of pomalidomide plus low-dose dexamethasone in the largest cohort to date of patients with RRMM. Patients who failed treatment with bortezomib and lenalidomide and had adequate prior alkylator therapy were eligible. Pomalidomide 4 mg was given on days 1-21 of 28-day cycles with low-dose dexamethasone 40 mg (20 mg for patients aged >75 years) on days 1, 8, 15, and 22 until progressive disease or unacceptable toxicity. Safety was the primary end point; secondary end points included overall response rate (ORR), duration of response (DOR), progression-free survival (PFS), and overall survival (OS). Among 682 patients enrolled, median age was 66 years, and median time since diagnosis was 5.3 years. Median number of prior regimens was 5. Most patients were refractory to both lenalidomide and bortezomib (80.2%). Median follow-up was 16.8 months; median duration of treatment was 4.9 months. Most frequent grade 3/4 treatment-emergent adverse events were hematologic (neutropenia [49.7%], anemia [33.0%], and thrombocytopenia [24.1%]). Most common grade 3/4 nonhematologic toxicities were pneumonia (10.9%) and fatigue (5.9%). Grade 3/4 venous thromboembolism and peripheral neuropathy were rare (1.6% each). The ORR was 32.6%, and the median DOR was 7.4 months. Median PFS and OS were 4.6 months and 11.9 months, respectively. We present the largest trial to date evaluating pomalidomide plus low-dose dexamethasone in patients with RRMM, further confirming that this regimen offers clinically meaningful benefit and is generally well tolerated. www.Clinicaltrials.gov identifier NCT01712789.
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