Predicting the Impact of OTOF Gene Missense Variants on Auditory Neuropathy Spectrum Disorder.

Auditory neuropathy spectrum disorder (ANSD) associated with mutations of the OTOF gene is one of the common types of sensorineural hearing loss of a hereditary nature. Due to its high genetic heterogeneity, ANSD is considered one of the most difficult hearing disorders to diagnose. The dataset from 270 known annotated single amino acid substitutions (SAV) related to ANSD was created.

Prediction of Amino Acid Substitutions in ABL1 Protein Leading to Tumor Drug Resistance Based on "Structure-Property" Relationship Classification Models.

Drug resistance to anticancer drugs is a serious complication in patients with cancer. Typically, drug resistance occurs due to amino acid substitutions (AAS) in drug target proteins. The study aimed at developing and validating a new approach to the creation of structure-property relationships (SPR) classification models to predict AASs leading to drug resistance to inhibitors of tyrosine-protein kinase ABL1.

Different iPSC-derived neural stem cells shows various spectrums of spontaneous differentiation during long term cultivation.

Introduction: Culturing of human neural stem cells (NSCs) derived from induced pluripotent stem cells (iPSC) is a promising area of research, as these cells have the potential to treat a wide range of neurological, neurodegenerative and psychiatric diseases. However, the development of optimal protocols for the production and long-term culturing of NSCs remains a challenge. One of the most important aspects of this problem is to determine the stability of NSCs during long-term in vitro passaging.

Comparison of Quantitative and Qualitative (Q)SAR Models Created for the Prediction of K and IC Values of Antitarget Inhibitors.

Estimation of interaction of drug-like compounds with antitargets is important for the assessment of possible toxic effects during drug development. Publicly available online databases provide data on the experimental results of chemical interactions with antitargets, which can be used for the creation of (Q)SAR models. The structures and experimental K and IC values for compounds tested on the inhibition of 30 antitargets from the ChEMBL 20 database were used.

Transcriptomic changes triggered by hypoxia: evidence for HIF-1α-independent, [Na+]i/[K+]i-mediated, excitation-transcription coupling.

This study examines the relative impact of canonical hypoxia-inducible factor-1alpha- (HIF-1α and Na+i/K+i-mediated signaling on transcriptomic changes evoked by hypoxia and glucose deprivation. Incubation of RASMC in ischemic conditions resulted in ∼3-fold elevation of [Na+]i and 2-fold reduction of [K+]i. Using global gene expression profiling we found that Na+,K+-ATPase inhibition by ouabain or K+-free medium in rat aortic vascular smooth muscle cells (RASMC) led to the differential expression of dozens of genes whose altered expression was previously detected in cells subjected to hypoxia and ischemia/reperfusion.

The first case of primary metacarpal V restoration with titanium mesh and cancellous bone graft.

Any references of use of the titanium mesh in hand reconstruction could not be found. A case of primary metacarpal reconstruction after severe hand trauma with a help of cage made of titanium mesh and cancellous iliac bone graft is presented.