Trichohepatoneurodevelopmental syndrome is an extremely uncommon autosomal
recessive disorder resulting from variants in the CCDC47 gene, which encodes a Ca2+ …

Abstract CCCTC-Binding Factor (CTCF) is a protein-coding gene involved in transcriptional
regulation, insulator activity, and regulation of chromatin structure, and is closely associated …

Tcf4 has been linked to autism, schizophrenia, and Pitt-Hopkins Syndrome (PTHS) in
humans, suggesting a role for Tcf4 in brain development and importantly cortical …

We review the data from studies of mouse mutants that lend insight to the mechanisms that
lead to neural tube defects (NTDs). Most of the 50 single‐gene mutations that cause neural …

Transcription factor TCF4 (alias ITF2, SEF2 or E2-2) is a broadly expressed basic helix–loop–
helix (bHLH) protein that functions as a homo-or heterodimer. Missense, nonsense, frame …

Abstract Background Christianson Syndrome, a recently identified X-linked
neurodevelopmental disorder, is caused by mutations in the human gene SLC9A6 encoding …

The formation of the embryonic brain and spinal cord begins as the neural plate bends to
form the neural folds, which meet and adhere to close the neural tube. The neural ectoderm …

Background Rare mutations in multiple genes have been associated with human neural
tube defects (NTDs), but their causative roles in NTDs disease are poorly understood …

Translationally controlled tumor-associated protein (TCTP) has been implicated in cell
growth, proliferation, and apoptosis through interacting proteins. Although TCTP is …