Premium
Keratins and epidermolysis bullosa simplex
Author(s) -
Khani Pouria,
Ghazi Farideh,
Zekri Ali,
Nasri Farzad,
Behrangi Elham,
Aghdam Arad Mobasher,
Mirzaei Hamed
Publication year - 2019
Publication title -
journal of cellular physiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.529
H-Index - 174
eISSN - 1097-4652
pISSN - 0021-9541
DOI - 10.1002/jcp.26898
Subject(s) - epidermolysis bullosa simplex , keratin 14 , keratin , keratin 5 , epidermolysis bullosa , biology , intermediate filament , phenotype , dermatology , computational biology , medicine , genetics , gene , cytoskeleton , cell , transgene , genetically modified mouse
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.