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The goal of some of our researchers is to understand the genetic and cellular basis of these pathologies, and to identify intrinsic mechanisms and novel therapies that can restore normal function.
32 Despite new ciliary genes being discovered through the identification of new disease-causative mutations in genes coding for ciliary proteins, and also delving deeper into the molecular basis of these pathologies, the current measures of therapy for these patients are limited, without real curative options.
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The analysis of gene expression profiling can elucidate the molecular basis of this pathology.
Analysis of the normal role of htt may therefore provide some understanding of the molecular and cellular basis of the pathology associated with HD.
Therefore, improving our understanding of the cellular and molecular basis of this pathology will help in developing strategic therapeutic interventions to enhance patient benefit in the future.
On the basis of the pathology associated with WNS, we hypothesize that G. destructans impairs skin-mediated fluid regulation to the extent that behavioral strategies used by hibernating bats to restore water balance, such as roost selection, licking condensation from fur and short flights to drink surface water [ 16], may be inadequate to prevent excessive water loss and clinical dehydration.
It is tempting to suggest that the tendency of protein context to stabilize larger populations of soluble aggregates or proto-fibrils is an important and more general behaviour, which could be at the basis of polyQ pathologies.
Deciphering the basis of complex pathologies such as JIA is challenging and although certain progress has been made, much remains to be understood.
The SYN1 mutations are the first mutations demonstrating that a common genetic defect can be at the basis of both pathologies and that a dysregulation of synaptic homeostasis can play a causal role in the pathogenesis of both diseases.
In summary, the methods proposed in our study could potentially play an important role in miRNA research and serve as a powerful tool for further elucidation of the molecular basis of human pathologies.
On the basis of these results, a new skin pathology-oriented PIQOR™ microarray was designed.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com