Global ETD Search
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Showing 1 to 3 of 3 for “"distal arthrogryposis"”.
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Arthrogryposis. Causes, Consequences and Clinical Course in Amyoplasia and Distal Arthrogryposis
Arthrogryposis Causes, Consequences and Clinical Course in Amyoplasia and Distal Arthrogryposis Background. Arthrogryposis Multiplex Congenita, AMC, is a heterogeneous condition defined as multiple congenital joint contractures in two or more body areas. The pathogenesis is impaired fetal …
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Contractile Properties of Striated Muscle in Development and In Disease
… at the 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, …
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Regulation of PIEZO Channels by Membrane Lipids
… diseases 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 …