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Sökning: WFRF:(Eder V)

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  • Chase, A., et al. (författare)
  • Profound parental bias associated with chromosome 14 acquired uniparental disomy indicates targeting of an imprinted locus
  • 2015
  • Ingår i: Leukemia. - : Springer Science and Business Media LLC. - 0887-6924 .- 1476-5551. ; 29:10, s. 2069-2074
  • Tidskriftsartikel (refereegranskat)abstract
    • Acquired uniparental disomy (aUPD) is a common finding in myeloid malignancies and typically acts to convert a somatically acquired heterozygous mutation to homozygosity. We sought to identify the target of chromosome 14 aUPD (aUPD14), a recurrent abnormality in myeloid neoplasms and population cohorts of elderly individuals. We identified 29 cases with aUPD14q that defined a minimal affected region (MAR) of 11.2 Mb running from 14q32.12 to the telomere. Exome sequencing (n = 7) did not identify recurrently mutated genes, but methylation-specific PCR at the imprinted MEG3-DLK1 locus located within the MAR demonstrated loss of maternal chromosome 14 and gain of paternal chromosome 14 (P < 0.0001), with the degree of methylation imbalance correlating with the level of aUPD (r = 0.76; P = 0.0001). The absence of driver gene mutations in the exomes of three individuals with aUPD14q but no known haematological disorder suggests that aUPD14q may be sufficient to drive clonal haemopoiesis. Analysis of cases with both aUPD14q and JAK2 V617F (n = 11) indicated that aUPD14q may be an early event in some cases but a late event in others. We conclude that aUPD14q is a recurrent abnormality that targets an imprinted locus and may promote clonal haemopoiesis either as an initiating event or as a secondary change.
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  • Boddaert, S., et al. (författare)
  • Fire safety of BIPV : International mapping of accredited and R&D facilities in the context of codes and standards 2023
  • 2023
  • Rapport (övrigt vetenskapligt/konstnärligt)abstract
    • The objective of Task 15 of the IEA Photovoltaic Power Systems Programme is to create an enabling framework to accelerate the penetration of BIPV products in the global market of renewables, resulting in an equal playing field for BIPV products, BAPV products and regular building envelope components, respecting mandatory issues, aesthetic issues, reliability issues, and financial issues.Subtask E of Task 15 is focused on pre-normative international research on BIPV characterisation methods and activity E.3 is dedicated to fire safety of BIPV modules and installations.
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