Researchers have uncovered a novel neurodevelopmental disorder featuring multiple congenital anomalies that is linked to variants in the MED16 gene. Published in the American Journal of Human [...]
Silencing the PCSK9 gene through epigenetic editing may be a novel and promising future strategy to treat hypercholesterolemia. In a study published in Nature Medicine, researchers describe the [...]
The pivotal role of the oncostatin M (OSM) protein in hematopoiesis in humans is underscored by a recent study published in the Journal of Clinical Investigation. Researchers investigated three [...]
Researchers have identified IL-23R as an aging and cellular senescence biomarker and a potential target for future strategies to counteract aging-associated conditions. The authors of a study [...]
A central, previously unknown role of the PNUTS complex in gene transcription depending on RNA polymerase II has been uncovered. According to a study published in Molecular Cell, the PNUTS [...]
Building upon success following release of the first patient registry for isolated hearing impairment due to otoferlin-related hearing impairment in late 2023, we are pleased to announce the [...]
Errors introduced by DNA polymerase ε (POLE) during DNA replication contribute significantly to the occurrence of C-to-T mutations at methylated CpG dinucleotides. A study published in Nature [...]
