نتایج جستجو برای: merosin
تعداد نتایج: 173 فیلتر نتایج به سال:
Introduction Congenital muscular dystrophies (CMDs) represent a heterogeneous group of early-onset muscle disorders presenting primarily with hypotonia and delayed motor development. Several genes are known to be responsible for CMDs, including the LAMA2 gene, involved in merosin-deficient type 1A (MDC1A), FKRP gene dystrophy-dystroglycanopathy B5 (MDDGB5). These two forms CMD autosomal recessi...
PURPOSE OF THE STUDY The study aimed to evaluate the intraoperative and early postoperative response simultaneous bilateral femoral osteotomy usually accompanied by soft tissue release of hip joints, or open reduction, capsuloplasty, pelvic extraarticular shelf procedure. MATERIAL AND METHODS A surgery was performed in 16 children. Twelve children suffered from (spastic) cerebral palsy there on...
Osteoclast precursors are chemotactically attracted to sites of bone resorption via migration pathways that include transendothelial crossing in blood capillaries. Transendothelial migration involves poorly understood interactions with basal lamina molecules, including laminins. To investigate osteoclast-laminin interactions, we used human osteoclast-like cell lines obtained from giant cell tum...
Agrin, an extracellular matrix protein synthesized by nerves and muscles is known to promote the clustering of acetylcholine receptors and other synaptic proteins in cultured myotubes. This observation suggests that agrin may provide at least part of the signal for synaptic specialization in vivo. The extracellular matrix components agrin, laminin and merosin bind to alpha-dystroglycan, a heavi...
Phosphorodiamidate morpholino oligomer (PMO)-mediated exon skipping is among the more promising approaches to the treatment of several neuromuscular disorders including Duchenne muscular dystrophy. The main weakness of this approach arises from the low efficiency and sporadic nature of the delivery of charge-neutral PMO into muscle fibers, the mechanism of which is unknown. In this study, to te...
Mutations in COL6A1, COL6A2 and COL6A3, the genes which encode the extra-cellular matrix component collagen VI, lead to Bethlem myopathy and Ullrich congenital muscular dystrophy (UCMD). Although the Col6a1(-/-) null mouse has an extremely mild neuromuscular phenotype, a mitochondrial defect has been demonstrated, linked to dysregulation of the mitochondrial permeability transition pore (PTP) o...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید