Transcription and beyond: delineating FOXG1 function in cortical development and disorders

PS Hou, DO HAilin, T Vogel… - Frontiers in cellular …, 2020 - frontiersin.org
Forkhead Box G1 (FOXG1) is a member of the Forkhead family of genes with non-redundant
roles in brain development, where alteration of this gene's expression significantly affects …

Toward a mechanistic understanding of DNA binding by forkhead transcription factors and its perturbation by pathogenic mutations

S Dai, L Qu, J Li, Y Chen - Nucleic acids research, 2021 - academic.oup.com
Forkhead box (FOX) proteins are an evolutionarily conserved family of transcription factors
that play numerous regulatory roles in eukaryotes during developmental and adult life …

Genome sequencing as a diagnostic test in children with unexplained medical complexity

G Costain, S Walker, M Marano, D Veenma… - JAMA network …, 2020 - jamanetwork.com
Importance Children with medical complexity (CMC) represent a growing population in the
pediatric health care system, with high resource use and associated health care costs. A …

[HTML][HTML] Consensus guidelines on managing Rett syndrome across the lifespan

C Fu, D Armstrong, E Marsh, D Lieberman… - BMJ paediatrics …, 2020 - ncbi.nlm.nih.gov
Background Rett syndrome (RTT) is a severe neurodevelopmental disorder with complex
medical comorbidities extending beyond the nervous system requiring the attention of health …

FOXG1-Related Syndrome: From Clinical to Molecular Genetics and Pathogenic Mechanisms

LC Wong, S Singh, HP Wang, CJ Hsu, SC Hu… - International Journal of …, 2019 - mdpi.com
Individuals with mutations in forkhead box G1 (FOXG1) belong to a distinct clinical entity,
termed “FOXG1-related encephalopathy”. There are two clinical phenotypes/syndromes …

[HTML][HTML] Mouse vs man: Organoid models of brain development & disease

JJ Marshall, JO Mason - Brain Research, 2019 - Elsevier
Brain organoids have rapidly become established as promising tools for studying both the
normal embryonic development of the brain and the mechanistic roots of …

Sleep disorders in Rett syndrome and Rett-related disorders: a narrative review

G Tascini, GB Dell'Isola, E Mencaroni… - Frontiers in …, 2022 - frontiersin.org
Rett Syndrome (RTT) is a rare and severe X-linked developmental brain disorder that occurs
primarily in females, with a ratio of 1: 10.000. De novo mutations in the Methyl-CpG Binding …

The epilepsy–autism spectrum disorder phenotype in the era of molecular genetics and precision therapy

N Specchio, V Di Micco, M Trivisano, A Ferretti… - …, 2022 - Wiley Online Library
Autism spectrum disorder (ASD) is frequently associated with infants with epileptic
encephalopathy, and early interventions targeting social and cognitive deficits can have …

FOXG1 sequentially orchestrates subtype specification of postmitotic cortical projection neurons

J Liu, M Yang, M Su, B Liu, K Zhou, C Sun, R Ba… - Science …, 2022 - science.org
The mammalian neocortex is a highly organized six-layered structure with four major cortical
neuron subtypes: corticothalamic projection neurons (CThPNs), subcerebral projection …

Neurogenesis, neuronal migration, and axon guidance

A Accogli, N Addour-Boudrahem, M Srour - Handbook of clinical neurology, 2020 - Elsevier
Abstract Development of the central nervous system (CNS) is a complex, dynamic process
that involves a precisely orchestrated sequence of genetic, environmental, biochemical, and …