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Transcriptional Regulation and Its Misregulation in Human Diseases: Recent Insights

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Biology".

Deadline for manuscript submissions: 20 February 2026 | Viewed by 5

Special Issue Editors


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Guest Editor

Special Issue Information

Dear Colleagues,

Transcriptional regulation is a key biological process that involves multiple temporal and functional steps and numerous molecules, including transcription factors, cofactors and chromatin regulators. It is well established that many human diseases are characterized by global transcriptional dysregulation since most of the signaling pathways ultimately target transcription activity. Moreover, many human pathologies, including cancer, autoimmunity, neurological and developmental disorders, and metabolic and cardiovascular disorders, are often caused by alterations in regulatory sequences, transcription factors, splicing regulators, cofactors, chromatin regulators, non-coding RNAs, and other components of the transcription machinery. Thus, better knowledge of the molecules and mechanisms involved in transcriptional regulation can provide novel insights into the pathogenetic mechanisms of varied human diseases. In recent years, high-throughput sequencing technologies, combined with computational approaches, have become an indispensable tool for unraveling the complexity of transcriptional regulation and systematically profiling gene expression, identifying differentially regulated isoforms, mapping transcription factor binding sites, and outlining gene regulatory networks across various disease contexts.

This Special Issue will highlight both bioinformatics investigations and experimental molecular studies exploring the effects of transcriptional misregulation on human disorders.

Dr. Amelia Casamassimi
Dr. Monica Rienzo
Guest Editors

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Keywords

  • transcription machinery
  • transcription (co)factors
  • chromatin regulators
  • splicing regulators
  • noncoding RNAs
  • transcription misregulation
  • genetic alterations
  • human diseases
  • transcriptome profiling
  • bioinformatics analysis

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