Following gene expansion during evolution, today's phylogenetic tree of the NR2F family of
nuclear orphan receptors in mammals is represented by three different isoforms: NR2F1 …

Mitochondria are essential regulators of cellular energy metabolism and play a crucial role
in the maintenance and function of neuronal cells. Studies in the last decade have …

The Multidisciplinary Ophthalmic Genetics Clinic (MOGC) at the University of Michigan
Kellogg Eye Center aims to provide medical and ophthalmic genetics care to patients with …

Deciphering the structural effects of gene variants is essential for understanding the
pathophysiological mechanisms of genetic diseases. Using a neurodevelopmental disorder …

White matter (WM) tract formation and axonal pathfinding are major processes in brain
development allowing to establish precise connections between targeted structures …

Purpose Neurodevelopmental disorders exhibit clinical and genetic heterogeneity, ergo
manifest dysfunction in components of diverse cellular pathways; the precise …

Technological advancements in next-generation DNA sequencing have enabled elucidation
of many genetic causes of neurodevelopmental disorders (NDDs) over the last two decades …

Introduction NR2F1 pathogenetic variants are associated with the Bosch–Boonstra–Schaaf
optic atrophy syndrome (BBSOAS). Recent studies indicate that BBSOAS patients not only …

Background NR2F1 mutations are associated with Bosch-Boonstra-Schaaf optic atrophy
syndrome (BBSOAS). Although~ 46.7% of BBSOAS patients present with epilepsy, which is …

As a transcription factor, NR2F1 regulates spatiotemporal gene expression during
development and in adulthood. Aberrant NR2F1 causes a rare neurodevelopmental …