PTPN4 germline variants result in aberrant neurodevelopment and growth

Protein-tyrosine phosphatases (PTPs) are pleomorphic regulators of eukaryotic cellular responses to extracellular signals that function by modulating the phosphotyrosine of specific proteins. A handful of PTPs have been implicated in germline and somatic human disease. Using exome sequencing, we identified missense and truncating variants i

Natural widths of hypersatellite K-X-ray lines and lifetimes of double K-hole states in mid-Z atoms

K-X-ray spectra of Zr, Nb, Mo and Pd targets bombarded with 250 MeV carbon and 360 MeV oxygen ions are studied with high resolution diffraction spectrometry. Relative yields and natural widths of the Khα1,2 hypersatellite lines are determined and compared with those of the diagram lines. The widths of Khα1,2 lines are compared with the new phenomenological formula which takes into account the retardation of the Khα₁ transition in the LS coupling scheme. The data significantly exceed the expected values. Deduced lifetimes of the double K-hole states are shorter than expected

Vacancy rearrangement processes in multiply ionized atoms

We demonstrate that in order to interpret the x-ray satellite structure of Pd Lα1,2(L₃M4,5) transitions excited by fast O ions, which was measured using a high-resolution von Hamos crystal spectrometer, the vacancy rearrangement processes, taking place prior to the x-ray emission, have to be taken into account. The measured spectra were compared with the predictions of the multi- con.guration Dirac-Fock (MCDF) calculations using the fluorescence and Coster- Kronig yields which were modiffed due to a reduced number of electrons available for relaxation processes and the effect of closing the Coster-Kronig transitions. We demonstrate that the vacancy rearrangement processes can be described in terms of the rearrangement factor, which can be calculated by solving the system of rate equations modelling the flow of vacancies in the multiply ionized atom. By using this factor, the ionization probability at the moment of collision can be extracted from the measured intensity distribution of x-ray satellites. The present results support the independent electron picture of multiple ionization and indicate the importance of use of Dirac-Hartree-Fock wave functions to calculate the ionization probabilities

Satellite and hypersatellite structures of Lα1,2 and Lβ1 x-ray transitions in mid-Z atoms multiply ionized by fast oxygen ions

A detailed investigation of the Lα1,2 (L3→M4,5) and Lβ1 (L2→M4) x-ray satellite and hypersatellite structures in zirconium, molybdenum, and palladium atoms multiply ionized by impact with 278.6-MeV oxygen ions is reported. The x-ray spectra were measured with a high-resolution von Hamos bent crystal spectrometer. For the interpretation of the complex spectral features, relativistic multiconfiguration Dirac-Fock calculations were performed for all multivacancy configurations expected to contribute to the observed spectra. The data analysis clearly demonstrates that the spectra are dominated by structures originating from (L−1M−mN−n) satellite and (L−2M−mN−n) hypersatellite transitions corresponding to the radiative decay of the excited multivacancy configurations. The ionization probabilities of the L and M shell were determined from the data and compared with theoretical predictions from the geometrical model and the semiclassical approximation, using in the latter case both relativistic hydrogenlike and self-consistent Dirac-Hartree-Fock wave functions. The results support the independent electron picture of the multiple ionization. They also show the importance of using relativistic and self-consistent electronic wave functions for the L and M shells

High-resolution X-ray study of the multiple ionization of Pd atoms by fast oxygen ions

The multiple ionization of the L- and M-shells of Pd by fast oxygen ions has been studied by measuring with high-resolution the satellite structures of the Lα1,2 X-ray transitions. Relativistic multi-configuration Dirac-Fock (MCDF) calculations were used to interpret the complex X-ray spectrum, allowing to derive the number of L- and M-shell spectator vacancies at the moment of the X-ray emission. After correcting these numbers for the atomic vacancy rearrangement processes that take place prior to the X-ray emission, the ionization probabilities corresponding to the collision time were obtained. The latter were compared to predictions of the semiclassical approximation (SCA) and the geometrical model. The SCA calculations were performed using relativistic hydrogenic and self-consistent Dirac-Hartree-Fock (DHF) electronic wave functions. It was found that the use of the more realistic DHF wave functions in the SCA calculations leads to a much better description of the measured ionization probabilities for both the L- and M-shells

Observation of internal structure of the L-shell x-ray hypersatellites for palladium atoms multiply ionized by fast oxygen ions

An observation of the internal structure of the L-shell hypersatellite x rays resulting from the one-photon decay of L⁻² double-vacancy states in palladium multiply ionized by oxygen ions is reported. The Pd L₃→M4,5 x-ray spectrum was measured with a von Hamos high-resolution crystal spectrometer. The complex shape of the observed spectrum could be interpreted in detail using relativistic multiconfiguration Dirac-Fock calculations. The relative intensities of the measured x rays were found to be in good agreement with semiclassical approximation calculations using relativistic Dirac-Hartree-Fock wave functions