A PIPELINE TO ASSESS DISEASE-ASSOCIATED HAPLOTYPES IN REPEAT EXPANSION DISORDERS: THE EXAMPLE OF MJD/SCA3 LOCUS

A Pipeline to Assess Disease-Associated Haplotypes in Repeat Expansion Disorders: The Example of MJD/SCA3 Locus

At least 40 human diseases are associated with repeat expansions; yet, the mutational origin and instability mechanisms remain unknown for most of them.Previously, genetic epidemiology and predisposing backgrounds for the instability of some expanding loci have been studied in different populations through the analysis of diversity flanking the res

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Left atrial myxoma complicated with multi-system embolization

Abstract Background Atrial myxoma accounts for approximately 50% of all cardiac tumors.The majority of myxomas are located in the left venus tops and blouses atrium and present variable clinical manifestation.Case presentation A young man was transferred to our hospital with sudden onset of resting pain, pallor and numb in right leg.An atrial mobil

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A modular platform for bioluminescent RNA tracking

Abstract A complete understanding of RNA biology requires methods for tracking venus tops and blouses transcripts in vivo.Common strategies rely on fluorogenic probes that are limited in sensitivity, dynamic range, and depth of interrogation, owing to their need for excitation light and tissue autofluorescence.To overcome these challenges, we repor

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