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

by admin | Sep 25, 2025 | News

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...

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

by admin | Aug 20, 2025 | News

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...

Mechanistic Modelling of Recessive Disease through Allelic Integration of Variant Effects

by admin | Aug 16, 2025 | News

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...

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

by admin | Aug 15, 2025 | News

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...

Recent Advances in Understanding the Pathophysiology of Fabry Disease

by admin | Jun 30, 2025 | News

Fabry disease is an inherited metabolic disease that is caused by an abnormal accumulation of sphingolipids, including globotriaosylceramide (Gb-3), in lysosomes. Patients with Fabry disease have reduced or absence of an enzyme called α-galactosidase, which...

Preparation and characterization of flow reactors for the validation of biological drugs

by admin | May 28, 2025 | News

The aim of this thesis was to develop and characterize flow-through reactors based on the immobilization of alternative aspartic proteases-mucorpepsin and rhizopuspepsin-and to evaluate their applicability for the digestion of model proteins and the therapeutic...
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Recent Posts

  • Single-Molecule Real-Time Sequencing for MUC1 Variable Number of Tandem Repeat Variation to Improve Autosomal Dominant Tubulointerstitial Kidney Disease Diagnosis
  • Recurrent Single-Nucleotide Insertions in the Mitochondrial Second Light-Strand Promoter Cause Tubulointerstitial Kidney Disease
  • A role for EHMT2 in a novel autosomal recessive neurodevelopmental syndrome? A case report
  • paRDal: Bioinformatics Framework for a Parallel RNA and DNA NGS Analysis in Hereditary Cancer Diagnostics
  • Tri‐Parametric Assessment of α‐Galactosidase A Activity, lysoGb3 and X‐Inactivation Aids Genotype‐Phenotype Categorization of Fabry Disease Female Patients

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The MULTIOMICS_CZ project is supported by programme Johannes Amos Comenius, Ministry of Education, Youth and Sports of the Czech Republic,
ID Project CZ.02.01.01/00/23_020/0008540 – Co-funded by the European Union.

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