13 research outputs found
Identification of the c.5254G>A (p.Gly1752Arg) mutation in the <i>RAI1</i> gene in Altaian families.
<p>(<b>A</b>) Pedigrees of the WES families F38, F40, and additional four Altaian families F18, F37, F42, and F43 with mutation c.5254G>A (p.Gly1752Arg) in the <i>RAI1</i> gene. (<b>B</b>) Validation of c.5254G>A by Sanger sequencing. WES was performed for affected subjects indicated by blue codes. Black symbols represent individuals with congenital profound HL, moderate or severe HL in individuals is marked by grey symbols. M—mutation c.5254G>A (p.Gly1752Arg), wt—wild type.</p
The results of the WES analysis and variants filtering for seven patients.
<p>The results of the WES analysis and variants filtering for seven patients.</p
Prevalence of mutations c.5254G>A (<i>RAI1</i>), c.1111C>G (<i>OTOF</i>), and c.2168A>G (<i>SLC26A4</i>) on the territory of the Altai Republic.
<p>(<b>A</b>) Territorial distribution of individuals homozygous or heterozygous for mutations denoted by fully or half-colored circle, correspondingly: c.5254G>A (<i>RAI1</i>)–by red; c.1111C>G (<i>OTOF</i>)–by blue; c.2168A>G (<i>SLC26A4</i>)–by green. (<b>B</b>) Distribution of studied Altaian patients (n = 93) and Altaian control sample (n = 120) on the territory of the Altai Republic.</p
Jelly-like Microbial Mats over Subsurface Fields of Gas Hydrates at the St. Petersburg Methane Seep (Central Baikal)
<div><p>Jelly-like microbial mat samples were collected from benthic surfaces at the St. Petersburg methane seep located in Central Baikal. The concentrations of certain ions, specifically chloride, bromide, sulphate, acetate, iron, calcium, and magnesium, were 2–40 times higher in the microbial mats than those in the pore and bottom water. A large number of diatom valves, cyanobacteria, and filamentous, rod-shaped and coccal microorganisms were found in the samples of bacterial mats using light, epifluorescence and scanning microscopy.Comparative analysis of a 16S rRNA gene fragment demonstrated the presence of bacteria and archaea belonging to the following classes and phyla: Betaproteobacteria, Gammaproteobacteria, Deltaproteobacteria, Verrucomicrobia, Cytophaga-Flavobacteria-Bacteroidetes, Cyanobacteria, and Euryarchaeota. The chemical composition and phylogenetic structure of the microbial community showed that the life activity of the mat occurs due to methane and its derivatives involved. Values of δ<sup>13</sup>C for the microbial mats varied from −73.6‰ to −65.8‰ and for animals from −68.9‰ to −36.6‰. Functional genes of the sequential methane oxidation (<i>pmoA</i> and <i>mxaF</i>) and different species of methanotrophic bacteria inhabiting cold ecosystems were recorded in the total DNA. Like in other psychroactive communities, the destruction of organic substances forming formed as a result of methanotrophy, terminates at the stage of acetate formation in the microbial mats of Lake Baikal (1,400 m depth). Its further transformation is limited by hydrogen content and carried out in the subsurface layers of sediments.</p></div
Sequence of Structural and Magnetic Phase Transitions in (NO)Mn<sub>6</sub>(NO<sub>3</sub>)<sub>13</sub>
New nitrosonium manganese(II) nitrate, (NO)Mn6(NO3)13, has been synthesized and structurally
characterized.
In the temperature range of 45–298 K, the crystal is hexagonal
(centrosymmetric sp. gr. P63/m). Mn2+ ions are assembled into tubes along axis c with both NO3– filling and
coating. The nitrosonium cation is located in the framework cavity
and is disordered by a 3-fold axis. At the temperature TS1 = 190 K, a structural phase transition related to the
libration of the intertube NO3 group and a small variation
of Mn polyhedron is observed. Moreover, the anomalies in physical
properties of (NO)Mn6(NO3)13 allow
suggesting that ordering of NO+ units occurs at low temperatures.
The antiferromagnetic ordering in this compound is preceded by the
formation of a short-range correlation regime at about 25 K and takes
place in two steps at TN1 = 12.0 K and TN2 = 8.4 K
Role of PdO<sub><i>x</i></sub> and RuO<sub><i>y</i></sub> Clusters in Oxygen Exchange between Nanocrystalline Tin Dioxide and the Gas Phase
The effect of palladium- and ruthenium-based
clusters on nanocrystalline
tin dioxide interaction with oxygen was studied by temperature-programmed
oxygen isotopic exchange with mass-spectrometry detection. The modification
of aqueous sol–gel prepared SnO<sub>2</sub> by palladium and,
to a larger extent, by ruthenium, increases surface oxygen concentration
on the materials. The revealed effects on oxygen exchangelowering
the threshold temperature, separation of surface oxygen contribution
to the process, increase of heteroexchange rate and oxygen diffusion
coefficient, decrease of activation energies of exchange and diffusionwere
more intensive for Ru-modified SnO<sub>2</sub> than in the case of
SnO<sub>2</sub>/Pd. The superior promoting activity of ruthenium on
tin dioxide interaction with oxygen was interpreted by favoring the
dissociative O<sub>2</sub> adsorption and increasing the oxygen mobility,
taking into account the structure and chemical composition of the
modifier clusters
Role of PdO<sub><i>x</i></sub> and RuO<sub><i>y</i></sub> Clusters in Oxygen Exchange between Nanocrystalline Tin Dioxide and the Gas Phase
The effect of palladium- and ruthenium-based
clusters on nanocrystalline
tin dioxide interaction with oxygen was studied by temperature-programmed
oxygen isotopic exchange with mass-spectrometry detection. The modification
of aqueous sol–gel prepared SnO<sub>2</sub> by palladium and,
to a larger extent, by ruthenium, increases surface oxygen concentration
on the materials. The revealed effects on oxygen exchangelowering
the threshold temperature, separation of surface oxygen contribution
to the process, increase of heteroexchange rate and oxygen diffusion
coefficient, decrease of activation energies of exchange and diffusionwere
more intensive for Ru-modified SnO<sub>2</sub> than in the case of
SnO<sub>2</sub>/Pd. The superior promoting activity of ruthenium on
tin dioxide interaction with oxygen was interpreted by favoring the
dissociative O<sub>2</sub> adsorption and increasing the oxygen mobility,
taking into account the structure and chemical composition of the
modifier clusters
Prevalence of congenital HI caused by biallelic <i>GJB2</i> pathogenic variants in the Sakha Republic.
<p>Note: The territory of the Sakha Republic is shown in blue (bottom map). HI rates were calculated per 10,000 people, and appropriate data are presented only for the districts and cities of the Sakha Republic with population more than 10,000. Detailed data are presented in <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0156300#pone.0156300.s001" target="_blank">S1 Table</a>.</p
Spectrum and Frequency of the <i>GJB2</i> Gene Pathogenic Variants in a Large Cohort of Patients with Hearing Impairment Living in a Subarctic Region of Russia (the Sakha Republic) - Fig 1
<p>Detected pathogenic and benign variants in the <i>GJB2</i> gene in patients (A) and control groups (B). Note: Pathogenic variants are shown in red, benign variants are shown in blue; *—unclassified variant, b.p.—base pair.</p