RNA Processing Errors and Disease Flashcards

1
Q

Review papers

A

https: //www.nature.com/nrg/journal/v17/n1/pdf/nrg.2015.3.pdf http://jcb.rupress.org/content/212/1/13
http: //onlinelibrary.wiley.com/store/10.1002/wrna.1276/asset/wrna1276.pdf;jsessionid=06C9B2B6EEE4F2CF6116052181AD7F72.f03t04?v=1&t=j6v1xobw&s=d0b61d5fefb8ed157a19440790b9734f87b52dc3
https: //www.ncbi.nlm.nih.gov/pmc/articles/PMC2855871/

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2
Q

Define, with examples, the following:a) Exon Splicing Enhancer (ESE)b) Exonic splicing silencer (ESS)b) Nonsense Mediated Decayc) Cryptic Splice Site

A
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3
Q

How would you investigate the effect of a potential splicing mutation?

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4
Q

role of splicing and mechnism

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5
Q

Imacts of abberant splicing

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6
Q

examples in diseases caused by aberant splicing

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7
Q

predicting impact of splicing

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8
Q

RNA studies

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9
Q

functional studies

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10
Q

therapies targetting splicing

A
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