Osteogenesis imperfecta (OI) is a genetic disorder in collagen characterized by mechanically weakened tendon, fragile bones, skeletal deformities, and in severe cases, prenatal death. Although many studies have attempted to associate specific mutation types with phenotypic severity, the molecular and mesoscale mechanisms by which a single point mutation influences the mechanical behavior of tis...

Sickle cell disease commonly causes avascular necrosis of ht skeletal system. Repeated episodes of sickling of the erythrocytes lead to repeated episodes of vaso-occlusion which affects the bone, spleen and other organs. Recently developed assay methods, which are based on the measurement of some of the fragments of procollagen or collagen molecule or parts of noncollagenous basement proteins a...

The distribution of epithelial E-cadherin, basement membrane type VII collagen, and underlying connective tissues fibronectin were investigated immunohistochemically and compared in normal palatal mucosa and in denture-related stomatitis (DRS) derivatives using monoclonal antibodies.Biopsies of palatal mucosa were obtained from twelve patients enrolled in this study, 8 with type II DRS and 4 wi...

Bruck syndrome (BS) is a recessively-inherited phenotypic disorder featuring the unusual combination of skeletal changes resembling osteogenesis imperfecta (OI) with congenital contractures of the large joints. Clinical heterogeneity is apparent in cases reported thus far. While the genes coding for collagen 1 chains are unaffected in BS, there is biochemical evidence for a defect in the hydrox...

Dystrophic epidermolysis bullosa (DEB) is a severe skin fragility disorder associated with trauma-induced blistering, progressive soft tissue scarring, and increased risk of skin cancer. DEB is caused by mutations in the COL7A1 gene which result in reduced, truncated, or absent type VII collagen, and anchoring fibrils at the dermal-epidermal junction (DEJ). Because no topical wound-healing agen...

The binding and activation of the discoidin domain receptor 1 by collagen has led to the conclusion that proteins from the extracellular matrix can directly induce receptor tyrosine kinase-mediated signaling cascades. A region in the extracellular domain of DDR1 homologous to the Dictyostelium discoideum protein discoidin-I is also present in the secreted human protein RS1. Mutations in RS1 cau...

The hereditary bone disorder osteogenesis imperfecta is often caused by missense mutations in type I collagen that change one Gly residue to a larger residue and that break the typical (Gly-Xaa-Yaa)(n) sequence pattern. Site-directed mutagenesis in a recombinant bacterial collagen system was used to explore the effects of the Gly mutation position and of the identity of the residue replacing Gl...

PURPOSE Dysplasia epiphysealis hemimelica (DEH) is a rare developmental disorder resulting in epiphyseal overgrowth. Based on histological appearance, it is often described as an osteochondroma or osteochondroma-like lesion, although clinical differences exist between DEH and osteochondromas. The aim of this study was to test whether DEH and osteochondromas are histologically identical diseases...

Retinal vein occlusion (RVO) is the most common retinal vascular disorder second to diabetic retinopathy. The main risk factors in patients with RVO are hypertension, diabetes, hyperlipidemia, increased blood viscosity and glaucoma. The pathogenesis of RVO has not yet been clarified. In these events platelets could play a very important role. In the present study the platelet response to collag...

Background: Male factors, mainly spermatogenesis disorder, are responsible for 20-30% of infertility occurs in different societies. One of the known causes of spermatogenesis disorder is chemotherapy in patients with cancer. The side effect of chemoterpic agents may last from 10 years up to the end of the life. Since dividing cells are mainly affected by anticancer drugs, the aim of the present...