Epigenetic Reprogramming and Inheritance of the Cellular Differentiation Status Following Transient Expression of a Nonfunctional Dominant-Negative Retinoblastoma Mutant in Murine Mesenchymal Stem Cells.

The retinoblastoma gene product (Rb1), a master regulator of the cell cycle, plays a prominent role in cell differentiation. Previously, by analyzing the differentiation of cells transiently overexpressing the ΔS/N DN Rb1 mutant, we demonstrated that these cells fail to differentiate into mature adipocytes and that they constitutively silence through CpG methylation. Here, we demonstrate that the consequences of the transient expression of ΔS/N DN Rb1 are accompanied by the retention of promoter methylation near the TSS under adipogenic differentiation, thereby preventing its expression.

Multinational experience with next-generation sequencing: opportunity to identify transthyretin cardiac amyloidosis and Fabry disease.

Background: Sarcomeric hypertrophic cardiomyopathy (HCM) must be differentiated from phenotypically similar conditions because clinical management and prognosis may greatly differ. Patients with unexplained left ventricular hypertrophy require an early, confirmed genetic diagnosis through diagnostic or predictive genetic testing. We tested the feasibility and practicality of the application of a 17-gene next-generation sequencing (NGS) panel to detect the most common genetic causes of HCM and HCM phenocopies, including treatable phenocopies, and report detection rates.

Salivary oxytocin in autistic patients and in patients with intellectual disability.

Background: Assessing the role of oxytocin (OT) in the regulation of social interaction is a promising area that opens up new opportunities for studying the mechanisms of developing autism spectrum disorders (ASD).

Aim: To assess the correlation between the salivary OT level and age-related and psychopathological symptoms of children with intellectual disability (ID) and ASD.

Methods: We used the clinical and psychopathological method to assess the signs of ASD based on International Classification of Diseases (ICD-10), the severity of ASD was specified by the selected Russian type version "Childhood Autism Rating Scale" (CARS).

The benefits and challenges of family genetic testing in rare genetic diseases-lessons from Fabry disease.

Background: Family genetic testing of patients newly diagnosed with a rare genetic disease can improve early diagnosis of family members, allowing patients to receive disease-specific therapies when available. Fabry disease, an X-linked lysosomal storage disorder caused by pathogenic variants in GLA, can lead to end-stage renal disease, cardiac arrhythmias, and stroke. Diagnostic delays are common due to the rarity of the disease and non-specificity of early symptoms.

f.a., sp. nov., an ascomycetous yeast isolated from coconuts.

During studies on the endophytic yeast communities associated with fruits from Vietnam, three fermenting yeast strains were isolated from fruits of the coconut palm (). Phylogenetic analysis based on the sequences of the ITS regions and D1/D2 domains of the large subunit rRNA gene showed that these strains represented a single species of the clade that was distinct from the other related species. The new species represented a basal branch of the clade formed by the species i.