Publications by authors named "A Izmiryan"
Recessive dystrophic epidermolysis bullosa (RDEB) is a rare and severe genetic skin disease responsible for blistering of the skin and mucosa after minor trauma. RDEB is caused by a wide variety of variants in COL7A1 encoding type VII Collagen, the major component of anchoring fibrils that form key attachment structures for dermal-epidermal adherence. In this study, we achieved highly efficient COL7A1 editing in primary RDEB keratinocytes and fibroblasts from 2 patients homozygous for the c.
View Article and Find Full Text PDFRecessive Dystrophic Epidermolysis Bullosa (RDEB) is a rare and severe genetic disease responsible for blistering of the skin and mucosa caused by a wide variety of mutations in COL7A1 encoding type VII collagen. We have generated Induced Pluripotent Stem Cells (iPSCs) from two RDEB patients' fibroblasts harboring homozygous recurrent mutations in COL7A1. Their pluripotent state was confirmed by gene and protein expression of stem cell markers OCT4, SOX2, TRA1/60 and SSEA4.
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- Researchers have identified a connection between haploinsufficiency of the OTULIN gene and severe responses to staphylococcal infections in patients, leading to life-threatening necrosis.
- This condition is similar to the symptoms seen in Cri-du-Chat syndrome, which involves a deletion on chromosome 5p.
- The impairment from OTULIN causes an accumulation of linear ubiquitin in skin cells, leading to increased vulnerability to the staphylococcal toxin α-toxin, despite no changes in blood immune cells.
Peripheral nerve trauma and regeneration are complex events, and little is known concerning how occurrences in the distal stump affect the cell body's response to injury. Intermediate filament (IF) proteins underpin cellular architecture and take part in nerve cell proliferation, differentiation and axon regeneration, but their role in these processes is not yet fully understood. The present study aimed to investigate the regulation and interrelationship of major neural IFs in adult dorsal root ganglion (DRG) neurons and satellite glial cells (SGCs) following sciatic nerve injury.
View Article and Find Full Text PDFIntroduction: Epidermolysis Bullosa (EB) form a heterogeneous group of rare, sometimes life-threatening inherited skin diseases characterized by skin and mucosal blistering after mild trauma from birth. They display a wide range of disease severity, with multiple local and systemic complications with no satisfactory treatment.
Areas Covered: Approaches aiming to restore the functional expression of the defective protein such as and gene therapy, cell therapies, protein replacement and pharmacological approaches have shown promising results.