DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.

BCL11B is a Cys2-His2 zinc-finger (C2H2-ZnF) domain-containing, DNA-binding, transcription factor with established roles in the development of various organs and tissues, primarily the immune and nervous systems. BCL11B germline variants have been associated with a variety of developmental syndromes. However, genotype-phenotype correlations along with pathophysiologic mechanisms of selected variants mostly remain elusive.

Novel Copy Number Deletion Involving Associated With Epilepsy, Tremor, and Intellectual Disability.

Copy number variations (CNVs) contribute to various disorders including intellectual disability, developmental disorders, and cancer. This study identifies a de novo 2.62 Mb deletion at 6q22.

Retinoic acid-induced alterations enhance eATP-mediated anti-cancer effects in glioma cells: Implications for P2X7 receptor variants as key players.

Retinoic acid (RA) is a small, lipophilic molecule that inhibits cell proliferation and induces differentiation through activation of a family of nuclear receptors (RARs). The therapeutic potential of RA in the treatment of glioma was first evaluated two decades ago, but these attempts were considered not conclusive. Based on the complexity of tumor microenvironment and the role of purinergic signals within TME, we aimed to support RA-induced alterations in glioma cells with extracellular ATP.