Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance.

Diagnostic exome sequencing (DES) has aided delineation of the phenotypic spectrum of rare genetic etiologies of intellectual disability (ID). A SET domain containing 5 gene (SETD5) phenotype of ID and dysmorphic features has been previously described in relation to patients with 3p25.3 deletions and in a few individuals with de novo sequence alterations. Herein, we present additional patients with pathogenic SETD5 sequence alterations. The majority of patients in this cohort and previously reported have developmental delay, behavioral/psychiatric issues, and variable hand and skeletal abnormalities. We also present an apparently unaffected carrier mother of an affected individual and a carrier mother with normal intelligence and affected twin sons. We suggest that the phenotype of SETD5 is more complex and variable than previously presented. Therefore, many features and presentations need to be considered when evaluating a patient for SETD5 alterations through DES.

De novo variants in KLF7 are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms.

Due to small numbers of reported patients with pathogenic variants in single genes, the phenotypic spectrum associated with genes causing neurodevelopmental disorders such as intellectual disability (ID) and autism spectrum disorder is expanding. Among these genes is KLF7 (Krüppel-like factor 7), which is located at 2q33.3 and has been implicated in several developmental processes. KLF7 has been proposed to be a candidate gene for the phenotype of autism features seen in patients with a 2q33.3q34 deletion. Herein, we report 4 unrelated individuals with de novo KLF7 missense variants who share similar clinical features of developmental delay/ID, hypotonia, feeding/swallowing issues, psychiatric features and neuromuscular symptoms, and add to the knowledge about the phenotypic spectrum associated with KLF7 haploinsufficiency.

Sol-gel Synthesis, Photo- and Electrocatalytic Properties of Mesoporous TiO2 Modified with Transition Metal Ions.

Mesoporous nanosized titania films modified with Co2+, Ni2+, Mn3+, and Cu2+ ions have been produced by templated sol-gel method and characterized by optical spectroscopy, X-ray diffraction (XRD), and Brunauer, Emmett, and Teller (BET) surface area measurement. Band gap energy and the position of flat band potentials were estimated by photoelectrochemical measurements. The films doped with transition metals possessed higher photocurrent quantum yield, as well as photo- and electrochemical activity compared to undoped samples. Mn+/TiO2 (M-Co, Ni, Mn, Cu) electrodes with low dopant content demonstrate high efficiency in electrocatalytic reduction of dissolved oxygen. Polarization curves of TiO2, TiO2/Ni2+, TiO2/Co2+/3+, and TiO2/Mn3+ electrodes contain only one current wave (oxygen reduction current). It means that reaction proceeds without the formation of an intermediate product H2O2.

Design of Heteronuclear Metalloenzymes.

Heteronuclear metalloenzymes catalyze some of the most fundamentally interesting and practically useful reactions in nature. However, the presence of two or more metal ions in close proximity in these enzymes makes them more difficult to prepare and study than homonuclear metalloenzymes. To meet these challenges, heteronuclear metal centers have been designed into small and stable proteins with rigid scaffolds to understand how these heteronuclear centers are constructed and the mechanism of their function. This chapter describes methods for designing heterobinuclear metal centers in a protein scaffold by giving specific examples of a few heme-nonheme bimetallic centers engineered in myoglobin and cytochrome c peroxidase. We provide step-by-step procedures on how to choose the protein scaffold, design a heterobinuclear metal center in the protein scaffold computationally, incorporate metal ions into the protein, and characterize the resulting metalloproteins, both structurally and functionally. Finally, we discuss how an initial design can be further improved by rationally tuning its secondary coordination sphere, electron/proton transfer rates, and the substrate affinity.

Antibacterial and Antimycotic Activity of Cotton Fabrics, Impregnated with Silver and Binary Silver/Copper Nanoparticles.

Effective method of obtaining of the bactericidal bandage materials by impregnation of cotton fabric by aqueous solutions of silver and copper salts followed by a certain regime of heat treatment is developed. The study of obtained materials by methods of optical spectroscopy, electron microscopy, and X-ray phase analysis showed the formation of crystalline silver nanoparticles (NPs) and bimetallic Ag/Cu composites with the corresponding surface plasmon resonance (SPR) bands in the absorption spectra. High antimicrobial and antimycotic properties of tissues with low concentrations of Ag and Ag/Cu nanoparticles (Ag/Cu NPs) (in the range 0.06-0.25 weight percent (wt%) for Ag and 0.015-0.13 wt% for Ag/Cu) is confirmed in experiments with a wide range of multidrug-resistant bacteria and fungi: Escherichia coli, Enterobacter aerogenes, Proteus mirabilis, Klebsiella pneumoniae, Candida albicans yeasts, and micromycetes. Textile materials with Ag NPs demonstrate high antibacterial activity, while fabrics doped with bimetallic composite Ag/Cu have pronounced antimycotic properties. Bactericidal and antifungal properties of the obtained materials do not change after a washing. Production of such materials is extremely fast, convenient, and cost-effective.

[Isolation of nuclei from influenza virus infected chick fibroblast cells]. / Vydelenie iader iz kletok kurinykh fibroblastov, zarazennykh virusom grippa.

Three methods of nuclei isolation from influenza virus-infected chick fibroblast cells are characterized comparatively. The purity of the nuclear preparations was evaluated by hemagglutinin determination in them in hemagglutination test or hemagglutinin and membrane protein determination by polyacrylamide gel electrophoresis of labeled proteins. The purest nuclei were prepared by the method using citric acid--MgCl2--triton X-100.