New deletion in causing familial Danon disease. Effect of the X-chromosome inactivation.

Danon disease (DD), a rare X-linked genetic illness with a poor prognosis, is caused by a mutation in the lysosome-associated membrane protein 2 gene (LAMP2). Three main clinical features of this pathology are cardiomyopathy, skeletal myopathy, and mental retardation. Most Danon disease mutations create premature stop codons resulting in the decrease or absence of LAMP2 protein.

Gripping Prospective of Non-Shear Flows under High-Pressure Torsion.

The article presents a theoretical study of the regimes of high-pressure torsion (HPT) for which slippage of the deforming material on the interfaces with anvils is possible. The approach taken is a generalisation of the currently accepted view of the HPT process. It enables a rational explanation of its salient features and the effects observed experimentally.

The study of organelle DNA variability in alloplasmic barley lines in the NGS era.

Alloplasmic lines are a suitable model for studying molecular coevolution and interrelations between genetic systems of plant cells. Whole chloroplast (cp) and mitochondrial (mt) genome sequences were obtained by the MiSeq System (Illumina). Organelle DNA samples were prepared from a set of 12 alloplasmic barley lines with different cytoplasms of Hordeum vulgare ssp.

Association of With Symptom Severity and Cognitive Functioning in Belarusian Schizophrenia Patients.

MicroRNA-137 (miRNA-137; miR-137) is one of the important post-transcriptional regulators of the nervous system development, and its gene rs1625579 polymorphism was reported to be a potential regulator for schizophrenia susceptibility. However, schizophrenia characteristics controlled by rs1625579 polymorphism are still insufficiently understood. There were 3 groups included in the study: (a) subjects with diagnosis of schizophrenia ( = 150; 81-females, 69-males), (b) mentally healthy people (control group; = 102; 66-females, 36-males) and (c) Belarusian indigenous male group ( = 295).

Three new cases of dilated cardiomyopathy caused by mutations in LMNA gene.

Three cases of delated cardiomyopathy (DCM) with conduction defects (OMIM 115200), limb girdle muscular dystrophy 1B (OMIM 159001) and autosomal dominant Emery-Dreifuss muscular dystrophy 2 (OMIM 181350), all associated with different LMNA mutations are presented. Three heterozygous missense mutations were identified in unrelated patients - p.W520R (c.