De novo start‐loss variant in HIRA in patient with DiGeorge ‐like syndrome

A case of a newborn with tetralogy of Fallot, corpus callosum hypoplasia, and phenotypic features similar to DiGeorge syndrome. Chromosomal microarray analysis did not reveal any alterations. Whole exome sequencing and Sanger sequencing identified a de novo variant in the HIRA gene resulting in the loss of the start codon.

Association of 2‐oxoacid dehydrogenase complexes with respirasomes in mitochondria

In the present study, cryo‐electron tomography was used to investigate the localization of 2‐oxoacid dehydrogenase complexes (OADCs) in cardiac mitochondria and mitochondrial inner membrane samples. Two classes of ordered OADC inner cores with different symmetries were distinguished and their quaternary structures modeled. One class corresponds to pyruvate dehydrogenase complexes and the other to dehydrogenase complexes of α‐ketoglutarate and branched‐chain α‐ketoacids. OADCs were shown to be localized in close proximity to membrane‐embedded respirasomes, as observed both in densely packed lamellar cristae of cardiac mitochondria and in ruptured mitochondrial samples where the dense packing is absent. This suggests the specificity of the OADC–respirasome interaction, which allows localized NADH/NAD + exchange between OADCs and complex I of the respiratory chain. The importance of this local coupling is based on OADCs being the link between respiration, glycolysis and amino acid metabolism. The coupling of these basic metabolic processes can vary in different tissues and conditions and may be involved in the development of various pathologies. The present study shows that this important and previously missing parameter of mitochondrial complex coupling can be successfully assessed using cryo‐electron tomography.

High‐density lipoprotein remodeling affects the osmotic properties of plasma in goldfish under critical salinity

To investigate the stress response and physiological adaptations of goldfish ( Carassius auratus ) to critical salinity (CS) waters, we analyzed high‐density lipoprotein (HDL) stoichiometry, stress markers (cortisol, glucose), and plasma osmotic properties (Na + , osmolality, water content) using ichthyology, biochemistry, and proteomics approaches. After 21 days of exposure to CS, plasma concentrations of cortisol, glucose, and Na + increased, indicating stress. Total plasma osmolality (Osm total ) and osmolality generated by inorganic (Osm inorg ) and organic osmolytes (Osm org ) also increased, the latter by ~2%. We associated the increase of Osm org with (1) increased metabolite concentration (glucose), (2) dissociation of HDL particles resulting in increased HDL number per unit plasma volume (~1.5–2‐fold) and (3) increased HDL osmotic activity. HDL remodeling may be the reason for the redistribution of bound and free water in plasma, which may contribute to water retention in plasma and, at the same time, to hemodynamic disturbances under CS conditions. The study's findings suggest that HDL remodeling is an important mechanism for maintaining osmotic homeostasis in fish, which is consistent with current capillary exchange models in vertebrates.

Late Miocene transformation of Mediterranean Sea biodiversity

Improved chronostratigraphy for the Messel Formation (Hesse, Germany) provides insight into early to middle Eocene climate variability

New Cydia pomonella granulovirus strain with high entomopathogenic activity

Thermal Transformations of Ferrocene Fe(C5H5)2 at a Pressure of 10 GPa and Temperatures up to 2200 K

Observation of the Polarization of Λ Hyperons Produced in the Interaction of K– Mesons with Nuclei

Velocity Dispersion and H$\alpha$ emission of Ionized Gas in Star-forming Regions

For understanding the nature of gaseous flows in star-forming regions ofnearby galaxies it is usually utilized the relation between surface brightnessin H$\alpha$ line and velocity dispersion of ionized gas known as ''surfacebrightness -- velocity dispersion diagram''. Using the three-dimensionalgasdynamic simulations we consider the evolution of the synthetic diagrams forsupershells driven by multiple supernova explosions in stellar cluster locatedin the galactic disk. We investigate the shape and structure of the diagramsdepending on gaseous density and metallicity, disk scale height values. We showthat there are several loci of values typical for young bubbles evolved indense or rarefied gas at large heights above the disk midplane. We find thatthe structure of the diagram is depended on age of a supershell and physicalconditions of a gas in the disk. We argue that the diagrams obtained for thenearby dwarf galaxies can be interpreted by only using the dynamics of bubblesdriven by multiple supernova explosions in low-mass stellar clusters ofdifferent age.

GRASIAN: shaping and characterization of the cold hydrogen and deuterium beams for the forthcoming first demonstration of gravitational quantum states of atoms