Keratins and epidermolysis bullosa simplex

Khani, P. and Ghazi, F. and Zekri, A. and Nasri, F. and Behrangi, E. and Aghdam, A. M. and Mirzaei, H. (2018) Keratins and epidermolysis bullosa simplex. Journal of Cellular Physiology, 234 (1). pp. 289-297.

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Abstract

Keratin intermediate filaments play an important role in maintaining the integrity of the skin structure. Understanding the importance of this subject is possible with the investigation of keratin defects in epidermolysis bullosa simplex (EBS). Nowadays, in addition to clinical criteria, new molecular diagnostic methods, such as next generation sequencing, can help to distinguish the subgroups of EBS more precisely. Because the most important and most commonly occurring molecular defects in these patients are the defects of keratins 5 and14 (KRT5 and KRT14), comprehending the nature structure of these proteins and their involved processes can be very effective in understanding the pathophysiology of this disease and providing new and effective therapeutic platforms to treat it. Here, we summarized the various aspects of the presence of KRT5 and KRT14 in the epidermis, their relation to the incidence and severity of EBS phenotypes, and the processes with which these proteins can affect them. © 2018 Wiley Periodicals, Inc.

Item Type: Article
Additional Information: Cited By :2 Export Date: 16 February 2020 CODEN: JCLLA Correspondence Address: Ghazi, F.; Department of Medical Genetics and Molecular Biology, Faculty of Medicine, Iran University of Medical Sciences (IUMS)Iran; email: Ghazi.f@iums.ac.ir
Uncontrolled Keywords: epidermolysis bullosa simplex (EBS) keratin molecular aspects cytokeratin 14 cytokeratin 5 KRT14 protein, human KRT5 protein, human disease severity epidermis epidermolysis bullosa simplex gene mutation human incidence phenotype priority journal Review genetics pathophysiology skin Humans Keratin-14 Keratin-5
Subjects: WR Dermatology
QZ pathology-neoplasms-Genetics
Divisions: Mashhad University of Medical Sciences
Depositing User: lib2 lib2 lib2
Date Deposited: 11 May 2020 05:33
Last Modified: 11 May 2020 05:33
URI: http://eprints.mums.ac.ir/id/eprint/17368

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