نتایج جستجو برای: collagen disorder
تعداد نتایج: 655346 فیلتر نتایج به سال:
Mutations in the three collagen VI genes COL6A1, COL6A2 and COL6A3 cause Bethlem myopathy and Ullrich congenital muscular dystrophy (UCMD). UCMD, a severe disorder characterized by congenital muscle weakness, proximal joint contractures and marked distal joint hyperextensibility, has been considered a recessive condition, and homozygous or compound heterozygous mutations have been defined in CO...
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), also known as "brittle bone disease", is a rare genetic disorder of the skeleton, whose most benign form I corresponds to autosomal dominant mutations in genes encoding type collagen (COLA1, COLA2). Several associated skeletal manifestations are often observed but, surprisingly, while dentin defects reflect disorders, about half OI patients have no obvious oral man...
Ehlers-Danlos syndrome is a heritable connective tissue disorder with an estimated prevalence of one in 10,000 to 25,000 persons [1]. Using clinical phenotype, biochemical and molecular defects, as well as inheritance patterns, a total of 6 subtypes have been described [2]. Although its hallmark findings include severe joint laxity and hyperextensible skin, this condition is known to affect a v...
Osteogenesis imperfecta is a heritable disorder of bone formation resulting in low bone mass and a propensity to fracture. It exhibits a broad range of clinical severity, ranging from multiple fracturing in utero and perinatal death to normal adult stature and a low fracture incidence. The disorder is currently classified into seven types based on differences in clinical presentation and bone a...
Background and Aim: Diabetes is a chronic and progressive metabolic disorder that leads to more severe cardiac complications. The aim of the present study was to investigate the effects of berberine chloride on the heart tissue of streptozotocin-induced diabetic rats with aerobic training. Methods: 56 male Wistar rats were randomly divided into seven groups (n = 8): control (C), sham (S), Aero...
Osteogenesis imperfecta is a heritable disorder that causes bone fragility. Mutations in type I collagen result in autosomal dominant osteogenesis imperfecta, whereas mutations in either of two components of the collagen prolyl 3-hydroxylation complex (cartilage-associated protein [CRTAP] and prolyl 3-hydroxylase 1 [P3H1]) cause autosomal recessive osteogenesis imperfecta with rhizomelia (short...
Ehlers-Danlos syndrome is an inherited disorder that results in dysfunctional collagen bundles. These dysfunctional collagen bundles are most noticeable in tissues rich with collagen fibers--skin, vessels, GI, and ligaments. Until gene therapy advancements can correct the underlying gene mutations causing faulty collagen, the mainstay of treatment is prevention of traumatic injury. The success ...
Post-translational modifications are necessary for collagen precursor molecules (procollagens) to acquire final shape and function. However, the mechanism and contribution of collagen modifications that occur outside the endoplasmic reticulum and Golgi are not understood. We discovered that VIPAR, with its partner proteins, regulate sorting of lysyl hydroxylase 3 (LH3, also known as PLOD3) into...
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