Transcription factor 4 and its association with psychiatric disorders

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 pheno...

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Published inTranslational psychiatry Vol. 11; no. 1; pp. 19 - 12
Main Authors Teixeira, José R., Szeto, Ryan A., Carvalho, Vinicius M. A., Muotri, Alysson R., Papes, Fabio
Format Journal Article
LanguageEnglish
Published London Nature Publishing Group UK 05.01.2021
Nature Publishing Group
Subjects
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13/100
13/106
14
14/19
45
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64
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692/699/476/1373
692/699/476/1799
Autism Spectrum Disorder - genetics
Basic Helix-Loop-Helix Leucine Zipper Transcription Factors - genetics
Behavioral Sciences
Biological Psychology
Facies
Humans
Hyperventilation
Intellectual Disability - genetics
Medicine
Medicine & Public Health
Neurosciences
Pharmacotherapy
Psychiatry
Review
Review Article
Transcription Factor 4 - genetics
Transcription factors
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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.
AbstractList 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.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.
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.
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.
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.
ArticleNumber 19
Author Szeto, Ryan A.
Carvalho, Vinicius M. A.
Papes, Fabio
Teixeira, José R.
Muotri, Alysson R.
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SSID ssj0000548171
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SecondaryResourceType review_article
Snippet The human transcription factor 4 gene ( TCF4 ) encodes a helix–loop–helix transcription factor widely expressed throughout the body and during neural...
The human transcription factor 4 gene (TCF4) encodes a helix-loop-helix transcription factor widely expressed throughout the body and during neural...
The human transcription factor 4 gene (TCF4) encodes a helix–loop–helix transcription factor widely expressed throughout the body and during neural...
Abstract The human transcription factor 4 gene (TCF4) encodes a helix–loop–helix transcription factor widely expressed throughout the body and during neural...
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pubmedcentral
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pubmed
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SourceType Open Website
Open Access Repository
Aggregation Database
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Publisher
StartPage 19
SubjectTerms 13
13/100
13/106
14
14/19
45
45/43
631/378/340
64
64/60
692/699/476/1373
692/699/476/1799
Autism Spectrum Disorder - genetics
Basic Helix-Loop-Helix Leucine Zipper Transcription Factors - genetics
Behavioral Sciences
Biological Psychology
Facies
Humans
Hyperventilation
Intellectual Disability - genetics
Medicine
Medicine & Public Health
Neurosciences
Pharmacotherapy
Psychiatry
Review
Review Article
Transcription Factor 4 - genetics
Transcription factors
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Title Transcription factor 4 and its association with psychiatric disorders
URI https://link.springer.com/article/10.1038/s41398-020-01138-0
https://www.ncbi.nlm.nih.gov/pubmed/33414364
https://www.proquest.com/docview/2476049515
https://www.proquest.com/docview/2476558494
https://pubmed.ncbi.nlm.nih.gov/PMC7791034
https://doaj.org/article/7733f28fa3a54f0dbf3e24c181f11e72
Volume 11
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