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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

Transcription factor 4 and its association with psychiatric disorders

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Author(s):
Teixeira, Jose R. [1] ; Szeto, Ryan A. [2] ; Carvalho, Vinicius M. A. [1, 2] ; Muotri, Alysson R. [3, 2, 4, 5] ; Papes, Fabio [1, 2]
Total Authors: 5
Affiliation:
[1] Univ Estadual Campinas, Inst Biol, Dept Genet Evolut Microbiol & Immunol, Campinas - Brazil
[2] Univ Calif San Diego, Sch Med, Dept Pediat, Rady Childrens Hosp, La Jolla, CA 92093 - USA
[3] Univ Calif San Diego, Sch Med, Dept Cellular & Mol Med, La Jolla, CA 92093 - USA
[4] Univ Calif San Diego, Kavli Inst Brain & Mind, La Jolla, CA 92093 - USA
[5] Univ Calif San Diego, Ctr Acad Res & Training Anthropogeny CARTA, La Jolla, CA 92093 - USA
Total Affiliations: 5
Document type: Review article
Source: TRANSLATIONAL PSYCHIATRY; v. 11, n. 1 JAN 5 2021.
Web of Science Citations: 0
Abstract

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 TCF4 cause a devastating autism spectrum disorder known as Pitt-Hopkins syndrome, characterized by a range of aberrant phenotypes including severe intellectual disability, absence of speech, delayed cognitive and motor development, and dysmorphic features. Moreover, polymorphisms in TCF4 have been associated with schizophrenia and other psychiatric and neurological conditions. Details about how TCF4 genetic variants are linked to these diseases and the role of TCF4 during neural development are only now beginning to emerge. Here, we provide a comprehensive review of the functions of TCF4 and its protein products at both the cellular and organismic levels, as well as a description of pathophysiological mechanisms associated with this gene. (AU)

FAPESP's process: 18/03613-7 - Epigenetic reversal of haploinsufficiency of TCF4, a gene involved in Pitt-Hopkins syndrome, a neglected neurological childhood disease
Grantee:José Ricardo Teixeira Júnior
Support Opportunities: Scholarships in Brazil - Master
FAPESP's process: 20/11451-7 - Pitt-Hopkins Syndrome: studies on pathophysiology and genetic therapy using patient-derived cells and cerebral organoids
Grantee:Fabio Papes
Support Opportunities: Regular Research Grants