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Multiomics Workshop in BIOCEV

Each group leader presented the latest research findings supported by the MULTIOMICS project.
The event was highly engaging and provided a great opportunity for discussion.

The workshop program can be found here.

Single-nucleus transcriptome analysis provides new insights into B chromosome elimination in sorghum

B chromosomes (Bs) are supernumerary entities found in many plant species, with some exhibiting tissue-specific elimination. In Sorghum purpureosericeum, extensive level of the B chromosome elimination occurs during embryogenesis. It progresses quickly and affects most of the embryonic organs, leaving the B chromosome maintained mainly in limited regions of meristems. Dynamic of the process and rarity of the transcripts associated with elimination make its capturing challenging…

Source: https://www.biorxiv.org/content/10.1101/2025.10.07.680864v1.abstract

De novo heterozygous variants in EHMT2 genocopy Kleefstra syndrome via loss of G9a methyltransferase activity

EHMT1 and EHMT2 genes encode human euchromatin histone lysine methyltransferase 1 and 2 (EHMT1 alias GLP; EHMT2 alias G9a) that form heteromeric GLP/G9a complexes with essential roles in epigenetic regulation of gene expression. While EHMT1 haploinsufficiency was established as the cause of Kleefstra syndrome twenty years ago, the pathogenesis of G9a dysfunction in human disease remains largely unknown…

Source: https://www.biorxiv.org/content/10.1101/2025.09.25.678439v1.abstract

Novel structure motif for the selective inhibition of TET1 protein based on perimidines

The targeting of epigenetic factors, particularly TET proteins (ten-eleven translocation methylcytosine dioxygenases), has emerged as a significant focus in medicinal and biological research. Recent findings indicate that iron chelators possess substantial potential for inhibiting TET activity. In this study, we synthesized two 2-(hetero)aryl-1H-perimidines (perimidine 1 and 2) with iron(II) binding properties…

Source: https://www.sciencedirect.com/science/article/pii/S0022286025023841

Mechanistic Modelling of Recessive Disease through Allelic Integration of Variant Effects

Interpreting the effects of genetic variants remains a major challenge in recessive diseases, where clinical outcomes often depend on interactions between alleles. Multiplex assays of variant effects (MAVEs) measure variant function at scale, but nonlinear relationships with biochemical activity complicate the interpretation of MAVE scores…

Source: https://www.biorxiv.org/content/10.1101/2025.08.15.670494v1.abstract

PU.1-driven enrichment enables microglia profiling from frozen brain tissue using the high-throughput Smart-seq3xpress method

Single-cell transcriptomics has revealed the central role of microglia in brain development, homeostasis, and disease, particularly in the context of neuroinflammation. While single-cell RNA-sequencing enables targeted microglial analysis from fresh tissue, studying these cells in cryopreserved or archival samples remains challenging due to the lack of protocols for their specific enrichment.

Source: https://www.biorxiv.org/content/10.1101/2025.08.11.669607v1.abstract

Androgens mediate sexual dimorphism in Pilarowski-Bjornsson Syndrome

Sex-specific penetrance in autosomal dominant Mendelian conditions is largely understudied. The neurodevelopmental disorder Pilarowski-Bjornsson syndrome (PILBOS) was initially described in females. Here, we describe the clinical and genetic characteristics of the largest PILBOS cohort to date, showing that both sexes can exhibit PILBOS features, although males are overrepresented…

Source: https://www.medrxiv.org/content/10.1101/2025.05.06.25326635v1

Interaction of Selected Anthracycline and Tetracycline Chemotherapeutics with Poly(I:C) Molecules

Despite the natural ability of the immune system to recognize cancer and, in some patients, even to eliminate it, cancer cells have acquired numerous evading mechanisms. With the increasing knowledge and focus shifting from targeting rapidly proliferating cells with chemotherapy to modulating the immune system, there have been recent efforts to integrate (e.g., simultaneously or sequentially) various therapeutic approaches…

Source: https://pubs.acs.org/doi/10.1021/acsomega.4c05483

Extracellular vesicles as precision therapeutics for psychiatric conditions: targeting interactions among neuronal, glial, and immune networks

The critical role of the immune system in brain function and dysfunction is well recognized, yet development of immune therapies for psychiatric diseases has been slow due to concerns about iatrogenic immune deficiencies. These concerns are emphasized by the lack of objective diagnostic tools in psychiatry. A promise to resolve this conundrum lies in the exploitation of extracellular vesicles (EVs) that are physiologically produced or can be synthetized…

Source: https://www.frontiersin.org/journals/immunology/articles/10.3389/fimmu.2025.1454306/full

Lysosomal Storage-Independent Fabry Disease Variants with α-Galactosidase A Misprocessing-Induced ER Stress and the Unfolded Protein Response

Clinical findings in Fabry disease have classically been attributed to loss-of-function variants in the GLA gene that result in α-galactosidase A deficiency, intracellular accumulation of globotriaosylceramides and clinical manifestations. However, over time, increasing number of patients have been identified with GLA variants causing either non-classic Fabry disease or having unclear clinical effects…

Source: https://karger.com/nef/article/doi/10.1159/000545388/924002

The potential of exosomes in regenerative medicine and in the diagnosis and therapies of neurodegenerative diseases and cancer

Exosomes, nanosized extracellular vesicles released by various cell types, are intensively studied for the diagnosis and treatment of cancer and neurodegenerative diseases, and they also display high usability in regenerative medicine. Emphasizing their diagnostic potential, exosomes serve as carriers of disease-specific biomarkers, enabling non-invasive early detection and personalized medicine…

Source: https://www.frontiersin.org/journals/medicine/articles/10.3389/fmed.2025.1539714/full

Genetic Testing in Adults over 50 Years with Chronic Kidney Disease: Diagnostic Yield and Clinical Implications in a Specialized Kidney Genetics Clinic

Genetic causes of chronic diseases, once considered rare in adult-onset disease, now account for between 10 and 20% of cases of chronic kidney disease (CKD). Confirming a genetic diagnosis can influence disease management; however, the utility of genetic testing in older adults remains poorly understood, partly due to age-based restrictions on testing access…

Source: https://www.mdpi.com/2073-4425/16/4/408

Integrated omics reveals disease-associated radial glia-like cells with epigenetically dysregulated interferon response in multiple sclerosis

Progressive multiple sclerosis (PMS) involves a persistent, maladaptive inflammatory process with numerous cellular drivers. We generated induced neural stem cells (iNSCs) from patient fibroblasts through a direct reprogramming protocol that preserved their epigenome, which revealed a PMS-specific hypomethylation of lipid metabolism and interferon (IFN) signaling genes…

Source: https://www.cell.com/neuron/fulltext/S0896-6273(25)00710-X