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Joubert syndrome related disorders (JSRDs) have broad but variable phenotypic overlap with other ciliopathies. The molecular etiology of this overlap is unclear but probably arises from disrupting common functional module components within primary cilia. To identify additional module elements associated with JSRDs, we performed homozygosity mapping followed by next-generation sequencing (NGS) and...
Arrestins are proteins that arrest the activity of G protein-coupled receptors (GPCRs). While it is well established that normal inactivation of photoexcited rhodopsin, the GPCR of rod phototransduction, requires arrestin (Arr1), it has been controversial whether the same requirement holds for cone opsin inactivation. Mouse cone photoreceptors express two distinct visual arrestins: Arr1 and Arr4....
To investigate whether tissue expression of plasminogen activator inhibitor type 1 (PAI-1) is increased in the fibrotic plaque of human Peyronie’s disease (PD). Increased tissue levels of PAI-1, an inhibitor of both fibrinolysis and collagenolysis, have been found in a variety of fibrotic conditions. Recently, it was reported that PAI-1 expression was also increased in the fibrotic plaque of an animal...
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