Genome editing: A perspective on the application of CRISPR/Cas9 to study human diseases

DR Rodríguez‑Rodríguez… - International …, 2019 - spandidos-publications.com
Genome editing reemerged in 2012 with the development of CRISPR/Cas9 technology,
which is a genetic manipulation tool derived from the defense system of certain bacteria …

Transcription factor 4 and its association with psychiatric disorders

JR Teixeira, RA Szeto, VMA Carvalho… - Translational …, 2021 - nature.com
The human transcription factor 4 gene (TCF4) encodes a helix–loop–helix transcription
factor widely expressed throughout the body and during neural development. Mutations in …

Transcription Factor 4 loss-of-function is associated with deficits in progenitor proliferation and cortical neuron content

F Papes, AP Camargo, JS de Souza… - Nature …, 2022 - nature.com
Abstract Transcription Factor 4 (TCF4) has been associated with autism, schizophrenia, and
other neuropsychiatric disorders. However, how pathological TCF4 mutations affect the …

A myelin-related transcriptomic profile is shared by Pitt–Hopkins syndrome models and human autism spectrum disorder

BDN Phan, JF Bohlen, BA Davis, Z Ye, HY Chen… - Nature …, 2020 - nature.com
Autism spectrum disorder (ASD) is genetically heterogeneous with convergent
symptomatology, suggesting common dysregulated pathways. In this study, we analyzed …

The integrated landscape of causal genes and pathways in schizophrenia

C Ma, C Gu, Y Huo, X Li, XJ Luo - Translational psychiatry, 2018 - nature.com
Genome-wide association studies (GWAS) have identified more than 100 loci that show
robust association with schizophrenia risk. However, due to the complexity of linkage …

Disruption of TCF4 regulatory networks leads to abnormal cortical development and mental disabilities

H Li, Y Zhu, YM Morozov, X Chen, SC Page… - Molecular …, 2019 - nature.com
The TCF4 gene is the subject of numerous and varied investigations of it's role in the
genesis of neuropsychiatric disease. The gene has been identified as the cause of Pitt …

Differential regulation of the BDNF gene in cortical and hippocampal neurons

EE Esvald, J Tuvikene, A Moistus… - Journal of …, 2022 - Soc Neuroscience
Brain-derived neurotrophic factor (BDNF) is a widely expressed neurotrophin that supports
the survival, differentiation, and signaling of various neuronal populations. Although it has …

Amelioration of autism-like social deficits by targeting histone methyltransferases EHMT1/2 in Shank3-deficient mice

ZJ Wang, P Zhong, K Ma, JS Seo, F Yang, Z Hu… - Molecular …, 2020 - nature.com
Many of the genes disrupted in autism are identified as histone-modifying enzymes and
chromatin remodelers, most prominently those that mediate histone methylation …

Psychiatric risk gene Transcription Factor 4 (TCF4) regulates the density and connectivity of distinct inhibitory interneuron subtypes

HY Chen, BDN Phan, G Shim, GR Hamersky… - Molecular …, 2023 - nature.com
Abstract Transcription factor 4 (TCF4) is a basic helix-loop-helix transcription factor that is
implicated in a variety of psychiatric disorders including autism spectrum disorder (ASD) …

Analysis of the expression pattern of the schizophrenia-risk and intellectual disability gene TCF4 in the developing and adult brain suggests a role in development and …

M Jung, BM Häberle, T Tschaikowsky, MT Wittmann… - Molecular autism, 2018 - Springer
Background Haploinsufficiency of the class I bHLH transcription factor TCF4 causes Pitt-
Hopkins syndrome (PTHS), a severe neurodevelopmental disorder, while common variants …