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Showing 1 to 8 of 8 for “"Arthrogryposis"”.
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Arthrogryposis multiplex congenita (A.M.C.)
Thesis (M.D.)--Boston University
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Natural History Study of Arthrogryposis Multiplex Congenita, Amyoplasia Type
<p>Arthrogryposis or Arthrogrypsosis Multiplex Congenita (AMC) are terms used to describe the clinical finding of multiple congenital contractures. There are more than 300 distinct disorders associated with arthrogryposis. Amyoplasia is the most common type of arthrogryposis and is often referred …
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A case study of the social coping experiences of an adolescent with arthrogryposis multitplex congenita
Arthrogryposis multiplex congenita or A.M.C. is a disorder, which is characterized by multiple contractures of the joints. The disorder presents with varied grades of severity. Despite the physical deformities, intelligence is intact. The aim of this research was to explore the social coping …
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Multi-degree of freedom telemanipulation in an unstructured environment
… of potential users with congenital amputation, arthrogryposis, muscular dystrophy and cerebral palsy were developed. One method uses scalable movements (i.e. position and orientation), and the second employs isometric forces and torques without movement. The scalable position approach employs a …
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Characterisation of the role of VPS33B in Vesicular trafficking in polarised Epithelial cells.
Arthrogryposis, Renal dysfunction, and Cholestasis (ARC) syndrome is a multisystem disorder associated with abnormal localisation of some polarised membrane transporter proteins. Distinct apical and basolateral poles are essential for epithelial function and organ development but the molecular …
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Structure of the Human VPS33B/VPS16B Complex
… of VPS33B or VPS16B (VIPAS39) can cause arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome, a rare neonatal lethal condition with symptoms affecting many organ systems. These proteins form a VPS33B/VPS16B complex which is required for many cellular processes, including the …
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Contractile Properties of Striated Muscle in Development and In Disease
… protein, subcellular, and cellular level. Distal arthrogryposis is a skeletal muscle birth defect that can be caused by a mutation in embryonic myosin; herein, I have found that the continued muscle dysfunction is linked to a delay in relaxation, likely from slower cross-bridge detachment, and …
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Regulation of PIEZO Channels by Membrane Lipids
… where PIEZO2 function is either up- (distal arthrogryposis type 5) or down- (Angelman syndrome) regulated. Finally, we demonstrate that PIEZO1 function is upregulated in sickle cell disease, and that fatty acids can be used to rescue this increase ex vivo. Overall, our findings demonstrate …