Disorders of Transcriptional Regulation

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".

Deadline for manuscript submissions: closed (30 April 2020) | Viewed by 386

Special Issue Editors


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Guest Editor
Park Gerald Chair of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA
Interests: Kabuki syndrome; lysosomal storage disorders; personalized medicine; newborn screening
Special Issues, Collections and Topics in MDPI journals

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Guest Editor
Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45267, USA
Interests: Kabuki syndrome; epigenetics; primary immune deficiency; CHARGE syndrome

Special Issue Information

Dear Colleagues,

Disorders of transcriptional regulation (DTR) include a growing list of monogenic disorders that overlap phenotypically and mechanistically due to direct and indirect effects of mutant alleles on gene transcription and regulation. Examples include Kabuki syndrome, CHARGE syndrome in addition to many others. A complete list can be found here: Disorders of Transcriptional Regulation List
These disorders share many unmet needs, including a significant disease burden with frequent multiorgan involvement, limited knowledge on disease progression and genotype-phenotype correlation, and lack of biomarkers and therapies.

The broad use of next-generation sequencing has not only resulted in an increased diagnostic rate but also the identification of novel disease genes that affect transcriptional regulation. Recent breakthroughs have led to a deeper understanding of disease-related mechanisms that may result in the identification of therapeutic targets to reverse aspects of the clinical phenotype.

In this Special Issue of Genes, we extend an invitation for original research and review articles that focus on clinical, molecular genetic or therapeutic aspects involving any of the DTRs. Submissions on larger patient cohorts delineating the natural history of disease are encouraged, as are review articles that highlight mechanistic and phenotypic overlaps between related syndromes. Single case reports will not be considered.

Dr. Olaf Bodamer
Dr. Andrew W. Lindsley
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • epigenetics
  • histone
  • methylation
  • transcription
  • gene expression

Published Papers

There is no accepted submissions to this special issue at this moment.
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