Infantile epileptic spasm syndrome as a new NR2F1 gene phenotype
Y Liang, L Wan, X Liu, J Zhang, G Zhu… - International Journal of …, 2024 - Wiley Online Library
Introduction NR2F1 pathogenetic variants are associated with the Bosch–Boonstra–Schaaf
optic atrophy syndrome (BBSOAS). Recent studies indicate that BBSOAS patients not only …
optic atrophy syndrome (BBSOAS). Recent studies indicate that BBSOAS patients not only …
Unravelling the conundrum of nucleolar NR2F1 localization: A comparative analysis of NR2F1 antibody-based approaches in vitro and in vivo
M Bertacchi, S Theiß, A Ahmed, M Eibl, A Loubat… - bioRxiv, 2024 - biorxiv.org
As a transcription factor, NR2F1 regulates spatiotemporal gene expression during
development and in adulthood. Aberrant NR2F1 causes a rare neurodevelopmental …
development and in adulthood. Aberrant NR2F1 causes a rare neurodevelopmental …