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Sökning: WFRF:(Bergman AA)

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  • Matuozzo, D, et al. (författare)
  • Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
  • 2022
  • Ingår i: medRxiv : the preprint server for health sciences. - : Cold Spring Harbor Laboratory.
  • Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
    • BackgroundWe previously reported inborn errors of TLR3- and TLR7-dependent type I interferon (IFN) immunity in 1-5% of unvaccinated patients with life-threatening COVID-19, and auto-antibodies against type I IFN in another 15-20% of cases.MethodsWe report here a genome-wide rare variant burden association analysis in 3,269 unvaccinated patients with life-threatening COVID-19 (1,301 previously reported and 1,968 new patients), and 1,373 unvaccinated SARS-CoV-2-infected individuals without pneumonia. A quarter of the patients tested had antibodies against type I IFN (234 of 928) and were excluded from the analysis.ResultsNo gene reached genome-wide significance. Under a recessive model, the most significant gene with at-risk variants wasTLR7, with an OR of 27.68 (95%CI:1.5-528.7,P=1.1×10−4), in analyses restricted to biochemically loss-of-function (bLOF) variants. We replicated the enrichment in rare predicted LOF (pLOF) variants at 13 influenza susceptibility loci involved in TLR3-dependent type I IFN immunity (OR=3.70 [95%CI:1.3-8.2],P=2.1×10−4). Adding the recently reportedTYK2COVID-19 locus strengthened this enrichment, particularly under a recessive model (OR=19.65 [95%CI:2.1-2635.4];P=3.4×10−3). When these 14 loci andTLR7were considered, all individuals hemizygous (n=20) or homozygous (n=5) for pLOF or bLOF variants were patients (OR=39.19 [95%CI:5.2-5037.0],P=4.7×10−7), who also showed an enrichment in heterozygous variants (OR=2.36 [95%CI:1.0-5.9],P=0.02). Finally, the patients with pLOF or bLOF variants at these 15 loci were significantly younger (mean age [SD]=43.3 [20.3] years) than the other patients (56.0 [17.3] years;P=1.68×10−5).ConclusionsRare variants of TLR3- and TLR7-dependent type I IFN immunity genes can underlie life-threatening COVID-19, particularly with recessive inheritance, in patients under 60 years old.
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  • Shubina, Tatiana, et al. (författare)
  • Intrinsic electric fields in N-polarity GaN/AlxGa1-xN quantum wells with inversion domains
  • 2003
  • Ingår i: Physical Review B. Condensed Matter and Materials Physics. - 1098-0121 .- 1550-235X. ; 67:19
  • Tidskriftsartikel (refereegranskat)abstract
    • GaN/AlGaN quantum wells (QWs) of dominant N polarity with inversion domains (IDs), grown by molecular-beam epitaxy, have been studied. Two-band photoluminescence (PL), with the lower-energy band and an additional absorption edge related to the IDs, is observed in these QWs due to a difference in strain, electric field, and well width in the regions of different polarities. A time-resolved PL study reveals additionally strong inhomogeneity of the electric fields among the IDs. The intrinsic electric fields in the structures are relatively small-their maximal estimated value of 180 kV/cm is among the lowest ever reported. The low-scale electric fields indicate likely polarization deterioration in the N-polarity structures. These conditions are favorable for bright PL up to room temperature in 8-9-nm-wide wells.
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  • Shubina, Tatiana, et al. (författare)
  • Nanometric-scale fluctuations of intrinsic electric fields in GaN/AlGaN quantum wells with inversion domains
  • 2002
  • Ingår i: Physica status solidi. B, Basic research. - 0370-1972 .- 1521-3951. ; 234:3, s. 919-923
  • Tidskriftsartikel (refereegranskat)abstract
    • Strain and electric field fluctuations in regions of different polarities in GaN/AlGaN quantum well (QW) structures of dominant N-polarity with inversion domains (IDs) split the photoluminescence (PL) emission into two bands. Micro-PL and time-resolved PL studies reveal strong inhomogeneity of the array of the IDs, where essential parameters, such as strain, electric fields, and sizes are fluctuating quantities. We demonstrate also that the ID formation decreases the intrinsic electric field magnitudes.
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