57 research outputs found
Two-photon double ionization of neon using an intense attosecond pulse train
We present the first demonstration of two-photon double ionization of neon
using an intense extreme ultraviolet (XUV) attosecond pulse train (APT) in a
photon energy regime where both direct and sequential mechanisms are allowed.
For an APT generated through high-order harmonic generation (HHG) in argon we
achieve a total pulse energy close to 1 J, a central energy of 35 eV and a
total bandwidth of eV. The APT is focused by broadband optics in a
neon gas target to an intensity of Wcm. By tuning
the photon energy across the threshold for the sequential process the double
ionization signal can be turned on and off, indicating that the two-photon
double ionization predominantly occurs through a sequential process. The
demonstrated performance opens up possibilities for future XUV-XUV pump-probe
experiments with attosecond temporal resolution in a photon energy range where
it is possible to unravel the dynamics behind direct vs. sequential double
ionization and the associated electron correlation effects
Transient Phenomena in Gene Expression after Induction of Transcription
When transcription of a gene is induced by a stimulus, the number of its mRNA molecules changes with time. Here we discuss how this time evolution depends on the shape of the mRNA lifetime distribution. Analysis of the statistical properties of this change reveals transient effects on polysomes, ribosomal profiles, and rate of protein synthesis. Our studies reveal that transient phenomena in gene expression strongly depend on the specific form of the mRNA lifetime distribution
A rare heterozygous TREM2 coding variant identified in familial clustering of dementia affects an intrinsically disordered protein region and function of TREM2
Rare coding variants in the triggering receptor expressed on myeloid cells-2 (TREM2) gene have been associated with Alzheimer disease (AD) and homozygous TREM2 loss-of-function variants have been reported in families with monogenic frontotemporal-like dementia with/without bone abnormalities. In a whole-exome sequencing study of a family with probable AD-type dementia without pathogenic variants in known autosomal dominant dementia disease genes and negative for the apolipoprotein E (APOE) Δ4 allele, we identified an extremely rare TREM2 coding variant, that is, a glycine-to-tryptophan substitution at amino acid position 145 (NM_018965.3:c.433G>T/p.[Gly145Trp]). This alteration is found in only 1 of 251,150 control alleles in gnomAD. It was present in both severely affected as well as in another putatively affected and one 61 years old as yet unaffected family member suggesting incomplete penetrance and/or a variable age of onset. Gly145 maps to an intrinsically disordered region (IDR) of TREM2 between the immunoglobulin-like and transmembrane domain. Subsequent cellular studies showed that the variant led to IDR shortening and structural changes of the mutant protein resulting in an impairment of cellular responses upon receptor activation. Our results, suggest that a p.(Gly145Trp)-induced structural disturbance and functional impairment of TREM2 may contribute to the pathogenesis of an AD-like form of dementia
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