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Special Issue "From Keratin Mutation Disorders to Their Structural Biology and Human Pathology Applications 2.0"

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

Deadline for manuscript submissions: 20 October 2021.

Special Issue Editor

Prof. Dr. Alessandro Terrinoni
Guest Editor
Università degli Studi di Roma Tor Vergata, Rome, Italy
Interests: genodermatoses; skin; clinical molecular chemistry; differentiation; keratins; epidermal proteins
Special Issues and Collections in MDPI journals

Special Issue Information

Dear Colleagues,

The disorders of keratinization (DOKs) are genetic defects characterized by a variety of clinical symptoms and histological features, including in many cases thickened stratum corneum and scaling skin. They can be severely debilitating diseases, though rarely lethal, with an incidence between 1 in 100,000 and 1 in 300,000. Many molecular genetic defects of these inherited skin diseases have been characterized in the last decade.

Genetic mutations in keratin genes lead to errors during the complex assembly and differentiation process of the epidermis, leading to keratin-associated skin diseases. This is because the cytoskeletal system of keratin intermediate filaments (KIFs) is fundamental in the cytoplasm of keratinocytes. This system is composed of unbranched filaments ~10 nm in diameter which are chemically stable, confer mechanical resistance to cells and skin, and have a barrier function.

The keratin gene family contains a high number of members, with 54 unique functional genes detected in humans. Keratins proteins are expressed in keratinocytes as heterodimers of two main families, located in two different chromosomal loci: the type I genes on chromosome 17q21.2, and those encoding type II keratins on chromosome 12q13.13. Additional association of the initial heterodimer gives rise to the filaments of ~10 nm. Further modifications, including crosslinking between filaments, generate the functional cytoskeleton of keratinocytes. During the differentiation of the epidermis, keratin dimers are expressed in a stratum- and tissue-specific fashion. The resulting phenotype of mutations in keratin genes is specific for the type, the localization, and the role of the keratin involved. Moreover, the availability of structural data is now revealing the biochemical behavior of the mutations, elucidating the biological role of these proteins in the pathophysiology of the diseases, and in other aspects of keratinocytes’ cellular biology. Research papers, up-to-date review articles, and commentaries are all welcome.

Prof. Dr. Alessandro Terrinoni
Guest Editor

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. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. 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.


  • keratins
  • mutations
  • keratin structural domains
  • ichthyosis
  • epidermolysis
  • erithrodermia

Published Papers

This special issue is now open for submission.
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