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Träfflista för sökning "WFRF:(Bergholz R) "

Search: WFRF:(Bergholz R)

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1.
  • Afanaciev, K.G., et al. (author)
  • Investigation of the radiation hardness of GaAs sensors in an electron beam
  • 2012
  • In: Journal of Instrumentation. - 1748-0221. ; 7:11
  • Journal article (peer-reviewed)abstract
    • A compact and finely grained sandwich calorimeter is designed to instrument the very forward region of a detector at a future e+e- collider. The calorimeter will be exposed to low energy e+e - pairs originating from beamstrahlung, resulting in absorbed doses of about one MGy per year. GaAs pad sensors interleaved with tungsten absorber plates are considered as an option for this calorimeter. Several Cr-doped GaAs sensor prototypes were produced and irradiated with 8.5-10 MeV electrons up to a dose of 1.5 MGy. The sensor performance was measured as a function of the absorbed dose.
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2.
  • Buena-Atienza, E, et al. (author)
  • De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy
  • 2016
  • In: Scientific reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 6, s. 28253-
  • Journal article (peer-reviewed)abstract
    • X-linked cone dysfunction disorders such as Blue Cone Monochromacy and X-linked Cone Dystrophy are characterized by complete loss (of) or reduced L- and M- cone function due to defects in the OPN1LW/OPN1MW gene cluster. Here we investigated 24 affected males from 16 families with either a structurally intact gene cluster or at least one intact single (hybrid) gene but harbouring rare combinations of common SNPs in exon 3 in single or multiple OPN1LW and OPN1MW gene copies. We assessed twelve different OPN1LW/MW exon 3 haplotypes by semi-quantitative minigene splicing assay. Nine haplotypes resulted in aberrant splicing of ≥20% of transcripts including the known pathogenic haplotypes (i.e. ‘LIAVA’, ‘LVAVA’) with absent or minute amounts of correctly spliced transcripts, respectively. De novo formation of the ‘LIAVA’ haplotype derived from an ancestral less deleterious ‘LIAVS’ haplotype was observed in one family with strikingly different phenotypes among affected family members. We could establish intrachromosomal gene conversion in the male germline as underlying mechanism. Gene conversion in the OPN1LW/OPN1MW genes has been postulated, however, we are first to demonstrate a de novo gene conversion within the lineage of a pedigree.
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