Mutations in the genes encoding collagen VI (COL6A1, COL6A2, and COL6A3) cause Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD), two conditions which were previously believed to be completely separate entities. BM is a relatively mild dominantly inherited disorder characterised by proximal weakness and distal joint contractures. UCMD was originally described as an autosoma...

Juvenile hyaline fibromatosis is a rare disorder characterised by multiple subcutaneous tumours, gum hypertrophy, muscle weakness, and flexion contractures of the large joints. Histology shows an abundance of a homogenous, amorphous, acidophilic extracellular matrix in which spindle shaped cells are embedded forming minute streaks. It has been previously suggested that collagen abnormalities ma...

Dystrophic epidermolysis bullosa is a rare inherited blistering disorder caused by mutations in the COL7A1 gene encoding type VII collagen. The deficiency and/or dysfunction of type VII collagen leads to subepidermal blistering immediately below the lamina densa, resulting in mucocutaneous fragility and disease complications such as intractable ulcers, extensive scarring, malnutrition, and mali...

INTRODUCTION Osteogenesis imperfecta (OI) is a genetic disorder that affects the production of type I collagen. A major characteristic of OI is bone fragility, caused in part by bone mass deficiency [1]. Impaired collagen network and abnormal mineralization have also been observed in OI [2,3], suggesting that bone material properties are also compromised. Little data, however, is yet available ...

Osteogenesis Imperfecta is a hereditary connective tissue disorder due to COL1A1/2 mutation causing gene defect encoding proteins metabolize collagen. The skeletal manifestation of OI bone incompetence, hence the name brittle disease. Here we report three cases type IV in adults. Skeletal conventional X-rays were performed all patients and them has similar results such as bowing deformities lon...

Dominant-negative interference by glycine substitution mutations in the COL7A1 gene causes dominant dystrophic epidermolysis bullosa (DDEB), a skin fragility disorder with mechanically induced blistering. Although qualitative and quantitative alterations of the COL7A1 gene product, collagen VII, underlie DDEB, the lack of direct correlation between mutations and the clinical phenotype has rende...

abstract basement membrane of glomerular mesangium (bmg) is a thin membrane which helps to support the capillary loops in a renal glomerulus and type iv collagen is require for complete bm formation during glomerulogenesis. in this investigation specific antibody of type iv collagen has been used in light microscopy to study development of bmg of the embryonic and postnatal mouse glomerular mes...

objective(s) extracellular matrix (ecm) and basement membrane (bm) play important roles in many developmental processes during development and after birth. among the components of the bm, collagen fibers specially type iv are the most important parts. the aim of this study was to determine the time when collagen type iv appears in the bm of lens structure during mouse embryonic development. mat...

a series of indole-based aryl(aroyl)hydrazone analogs of antiplatelet indole-3-carboxaldehyde phenylhydrazone were synthesized by the schiff base formation reaction and their antiplatelet activity was assessed using human platelet rich plasma. the platelet concentrate was obtained using a two-step centrifugation protocol and adp, arachidonic acid and collagen were used as inducers of platelet a...

background: collagen-based three-dimensional (3d) in vitro systems have been introduced to study the physiological states of cells. as a biomolecule, collagen is usually extracted from terrestrial animals whilst aquatic animals like squid contain large amounts of collagen. methods: in order to make effective use of marine organisms, we selected persian gulf squid in 2015 to extract the required...