Special Issue "Genetics and Epigenetics in Endocrine Disorders"
Deadline for manuscript submissions: 31 March 2022.
Interests: genomics; genetics; epigenetics; genetic diagnostics; hearing loss; fabry disease; hypercholesterolemia; endocrine disorders
The development of high-throughput sequencing methodologies has significantly improved our knowledge of the genetic and epigenetic background of complex and monogenetic endocrine disorders. This knowledge enables the identification of the etiological factors involved in the pathogenic mechanism in endocrine disorders, and is becoming essential to clinicians for the diagnostic and personalized management of individual disorders. Nevertheless, the understanding of the molecular pathology behind endocrine disorders is still incomplete and needs further elucidation.
This Special Issue welcomes the submission of unpublished original manuscripts (research articles, reviews, and communications) focusing on the molecular mechanisms leading to the development of complex and monogenetic endocrine disorders. We welcome manuscripts with a strong genetic component describing recent advances on all aspects related, but not limited, to the following topics:
- Rare variant analyses and epigenetic studies in complex and monogenic endocrine disorders.
- Functional studies for endocrine-disorder-related genes or variants.
- Gene expression analyses.
- Noncoding RNA analysis and function.
- Genotype–phenotype correlations.
Dr. Katarina Trebušak Podkrajšek
Dr. Primož Kotnik
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 papers will be 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 2000 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.
- monogenetic endocrine disorders
- complex endocrine disorders
- genotype–phenotype correlations
- next-generation sequencing
- gene expression
- non-coding RNA
- rare variants