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- Rosenhahn, Erik, et al.
(författare)
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Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications
- 2022
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Ingår i: American Journal of Human Genetics. - : Cell Press. - 0002-9297 .- 1537-6605. ; 109:8, s. 1421-1435
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Tidskriftsartikel (refereegranskat)abstract
- PPFIBP1 encodes for the liprin-β1 protein, which has been shown to play a role in neuronal outgrowth and synapse formation in Drosophila melanogaster. By exome and genome sequencing, we detected nine ultra-rare homozygous loss-of-function variants in 16 individuals from 12 unrelated families. The individuals presented with moderate to profound developmental delay, often refractory early-onset epilepsy, and progressive microcephaly. Further common clinical findings included muscular hyper- and hypotonia, spasticity, failure to thrive and short stature, feeding difficulties, impaired vision, and congenital heart defects. Neuroimaging revealed abnormalities of brain morphology with leukoencephalopathy, ventriculomegaly, cortical abnormalities, and intracranial periventricular calcifications as major features. In a fetus with intracranial calcifications, we identified a rare homozygous missense variant that by structural analysis was predicted to disturb the topology of the SAM domain region that is essential for protein-protein interaction. For further insight into the effects of PPFIBP1 loss of function, we performed automated behavioral phenotyping of a Caenorhabditis elegans PPFIBP1/hlb-1 knockout model, which revealed defects in spontaneous and light-induced behavior and confirmed resistance to the acetylcholinesterase inhibitor aldicarb, suggesting a defect in the neuronal presynaptic zone. In conclusion, we establish bi-allelic loss-of-function variants in PPFIBP1 as a cause of an autosomal recessive severe neurodevelopmental disorder with early-onset epilepsy, microcephaly, and periventricular calcifications.
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- Alexandridi, C., et al.
(författare)
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Attosecond photoionization dynamics in the vicinity of the Cooper minima in argon
- 2021
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Ingår i: Physical Review Research. - 2643-1564. ; 3:1
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Tidskriftsartikel (refereegranskat)abstract
- Using a spectrally resolved electron interferometry technique, we measure photoionization time delays between the 3s and 3p subshells of argon over a large 34-eV energy range covering the Cooper minima in both subshells. The observed strong variations of the 3s−3p delay difference, including a sign change, are well reproduced by theoretical calculations using the two-photon two-color random-phase approximation with exchange. Strong shake-up channels lead to photoelectrons spectrally overlapping with those emitted from the 3s subshell. These channels need to be included in our analysis to reproduce the experimental data. Our measurements provide a benchmark for multielectronic theoretical models aiming at an accurate description of interchannel correlation.
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- Grini, S., et al.
(författare)
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Dynamic Impurity Redistributions in Kesterite Absorbers
- 2020
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Ingår i: Physica status solidi. B, Basic research. - : Wiley. - 0370-1972 .- 1521-3951.
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Tidskriftsartikel (refereegranskat)abstract
- Cu2ZnSn(S,Se)4 is a promising nontoxic earth-abundant solar cell absorber. To optimize the thin films for solar cell device performance, postdeposition treatments at temperatures below the crystallization temperature are normally performed, which alter the surface and bulk properties. The polycrystalline thin films contain relatively high concentrations of impurities, such as sodium, oxygen and hydrogen. During the treatments, these impurities migrate and likely agglomerate at lattice defects or interfaces. Herein, impurity redistribution after air annealing for temperatures up to 200 °C and short heavy water treatments are studied. In addition, nonuniformities of the sodium distribution on a nanometer and micrometer scale are characterized by atom probe tomography and secondary ion mass spectrometry, respectively. Sodium and oxygen correlate to a greater extent after heat treatments, supporting strong binding between the two impurities. Redistributions of these impurities occur even at room temperature over longer time periods. Heavy water treatments confirm out-diffusion of sodium with more incorporation of oxygen and hydrogen. It is observed that the increased hydrogen content does not originate from the heavy water. The existence of an “ice-like” layer on top of the Cu2ZnSnS4 layer is proposed.
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