Ehlers-Danlos syndrome (EDS) is a clinically heterogeneous groupof inherited disorders with ten different types, all involving agenetic defect in collagen and connective-tissue synthesis andstructure that affecting the skin, joints, and blood vessels. EDStype VIA, a very rare kyphoscoliotic type, is autosomal recessiveand clinically characterized by soft extensible skin, laxity ofjoints and kyp...

Polarization resolved second harmonic generation (PSHG) is developed to study, at the microscopic scale, the impact of aging on the structure of type I collagen fibrils in two-dimensional coatings. A ribose-glycated collagen is also used to mimic tissue glycation usually described as an indicator of aging. PSHG images are analyzed using a generic approach of the molecular disorder information i...

We have identified that the collagen helix has the potential to be disruptive to analyses of intrinsically disordered proteins. The collagen helix is an extended fibrous structure that is both promiscuous and repetitive. Whilst its sequence is predicted to be disordered, this type of protein structure is not typically considered as intrinsic disorder. Here, we show that collagen-encoding protei...

Background: lumbar disc degeneration is a multifactorial degenerative disease which is affected by genetic inheritance and environmental factors. Type XI collagen is important for organization of the extracellular matrix and cartilage collagen construction. Rs1676486 is a SNP that causes the conversion of C-T, resulting in a change in the expression of the collagen 11 alpha chain. The T allele ...

The Ehlers-Danlos syndrome (EDS) is a heterogeneous connective-tissue disorder of which at least nine subtypes are recognized. Considerable clinical overlap exists between the EDS I and II subtypes, suggesting that both are allelic disorders. Recent evidence based on linkage and transgenic mice studies suggest that collagen V is causally involved in human EDS. Collagen V forms heterotypic fibri...

this syndrome is a genetical disorder with symptoms result from deficit in the formation of connective tissue, especially collagen fiber biosynthesis. in these patients, there is hyperelasticity and fragility of the skin and mucosa. injuries sever bleeding, internal bleeding and hemartrosis may be seen in these patients. wounds leave scars after healing. there is recurrent dislocation of the jo...

osteogenesis imperfecta (oi) as an inherited connective tissue disorder can affect all tissues that contains type i collagen. well-known cardiac complications of this disease such as aortic root dilatation, aortic regurgitation and mitral valve prolapse have been rarely reported in the literature. coronary artery aneurysm is a rare cardiac complication in oi, as reported in a 19 year old female...