Dystrophic epidermolysis bullosa (DEB) is a hereditary skin disorder characterized by traumainduced blistering. It is caused by mutations in the collagen VII gene, COL7A1, which consists of 118 small exons. Molecular diagnostics in DEB remain complex due to the gene structure, large variety of mutations, high rate of novel mutations, and the heterogeneity of phenotypes. Using a highly sensitive...

Two independent functions of cTAGE5 have been reported in collagen VII export from the endoplasmic reticulum (ER). cTAGE5 not only forms a cargo receptor complex with TANGO1, but it also acts as a scaffold to recruit Sec12, a guanine-nucleotide exchange factor for Sar1 GTPase, to ER exit sites. However, the relationship between the two functions remains unclear. Here we isolated point mutants o...

INTRODUCTION Epidermolysis bullosa acquisita (EBA) is an autoimmune subepidermal blistering disease caused by autoantibodies to type VII collagen. The clinical presentation is variable, with skin and mucosal lesions that can cause significant dysfunction. Different treatment options exist, but the results are often unsatisfactory. OBJECTIVE To review all the cases of epidermolysis bullosa acq...

Dystrophic epidermolysis bullosa (EBD) is a clinically heterogeneous skin disorder, characterized by abnormal anchoring fibrils (AF) and loss of dermal-epidermal adherence. EBD has been linked to the COL7A1 gene at chromosome 3p21 which encodes collagen VII, the major component of the AF. Here we investigated two unrelated EBD families with different clinical phenotypes and novel combinations o...

introduction & objective: the brain choroids plexus (bcp) plays an important role in the cerebrospinal fluid (csf) production, but its characterization is still incomplete. collagen type iv, is one of the most important proteins of basement membrane (bm) and extracellular matrix (ecm) of bcp. in the present study we investigated the differential period of type iv collagen in basement membrane o...

background: nicotine can pass through placental blood barrier and accumulate in the developing organs of fetus. also, entering the breast milk, nicotine can have an effect on the neonates. investigations have showed that collagen iv is one of the most important micro vessels basement membrane components. objective:  in this study, the effect of maternal nicotine exposure in pre and postnatal pe...

Osteogenesis imperfecta (OI), also known as brittle bone disease, characterized by multiplicative osteopsathyrosis, blue sclera, dentinogenesis imperfecta and mild audition, is a rare inherited connective tissue disease. There are seven types of OI, I to VII, among which type I-IV are relatively common and associated with type I collagen. Defects in type I collagen synthesis or structure are re...