Transcription Pause and Escape in Neurodevelopmental Disorders

Transcription pause-release is an important, highly regulated step in the control of gene expression. Modulated by various factors, it enables signal integration and fine-tuning of transcriptional responses. Mutations in regulators of pause-release have been identified in a range of neurodevelopment...

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Autores principales: Eigenhuis, Kristel N., Somsen, Hedda B., van den Berg, Debbie L. C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9125161/
https://www.ncbi.nlm.nih.gov/pubmed/35615272
http://dx.doi.org/10.3389/fnins.2022.846272
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author Eigenhuis, Kristel N.
Somsen, Hedda B.
van den Berg, Debbie L. C.
author_facet Eigenhuis, Kristel N.
Somsen, Hedda B.
van den Berg, Debbie L. C.
author_sort Eigenhuis, Kristel N.
collection PubMed
description Transcription pause-release is an important, highly regulated step in the control of gene expression. Modulated by various factors, it enables signal integration and fine-tuning of transcriptional responses. Mutations in regulators of pause-release have been identified in a range of neurodevelopmental disorders that have several common features affecting multiple organ systems. This review summarizes current knowledge on this novel subclass of disorders, including an overview of clinical features, mechanistic details, and insight into the relevant neurodevelopmental processes.
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spelling pubmed-91251612022-05-24 Transcription Pause and Escape in Neurodevelopmental Disorders Eigenhuis, Kristel N. Somsen, Hedda B. van den Berg, Debbie L. C. Front Neurosci Neuroscience Transcription pause-release is an important, highly regulated step in the control of gene expression. Modulated by various factors, it enables signal integration and fine-tuning of transcriptional responses. Mutations in regulators of pause-release have been identified in a range of neurodevelopmental disorders that have several common features affecting multiple organ systems. This review summarizes current knowledge on this novel subclass of disorders, including an overview of clinical features, mechanistic details, and insight into the relevant neurodevelopmental processes. Frontiers Media S.A. 2022-05-09 /pmc/articles/PMC9125161/ /pubmed/35615272 http://dx.doi.org/10.3389/fnins.2022.846272 Text en Copyright © 2022 Eigenhuis, Somsen and van den Berg. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Neuroscience
Eigenhuis, Kristel N.
Somsen, Hedda B.
van den Berg, Debbie L. C.
Transcription Pause and Escape in Neurodevelopmental Disorders
title Transcription Pause and Escape in Neurodevelopmental Disorders
title_full Transcription Pause and Escape in Neurodevelopmental Disorders
title_fullStr Transcription Pause and Escape in Neurodevelopmental Disorders
title_full_unstemmed Transcription Pause and Escape in Neurodevelopmental Disorders
title_short Transcription Pause and Escape in Neurodevelopmental Disorders
title_sort transcription pause and escape in neurodevelopmental disorders
topic Neuroscience
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9125161/
https://www.ncbi.nlm.nih.gov/pubmed/35615272
http://dx.doi.org/10.3389/fnins.2022.846272
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