Myotonic dystrophy: the role of the CUG triplet repeats in splicing of a novel DMPK exon and altered cytoplasmic DMPK mRNA isoform ratios (Q74057903)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10911990%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

title

Myotonic dystrophy: the role of the CUG triplet repeats in splicing of a novel DMPK exon and altered cytoplasmic DMPK mRNA isoform ratios (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10911990%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

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G Tiscornia

1

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8 November 2019

M S Mahadevan

series ordinal

2

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8 November 2019

publication date

1 June 2000

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8 November 2019

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8 November 2019

volume

5

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8 November 2019

issue

6

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8 November 2019

page(s)

959-967

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Myotonic dystrophy is associated with a reduced level of RNA from the DMWD allele adjacent to the expanded repeat

8 November 2019

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Identification of two nuclear proteins which bind to RNA CUG repeats: significance for myotonic dystrophy

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Overexpression of myotonic dystrophy kinase in BC3H1 cells induces the skeletal muscle phenotype

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Absence of myotonic dystrophy protein kinase (DMPK) mRNA as a result of a triplet repeat expansion in myotonic dystrophy

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Transcriptional abnormality in myotonic dystrophy affects DMPK but not neighboring genes

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Myotonic dystrophy: absence of CTG enlarged transcript in congenital forms, and low expression of the normal allele

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The correlation of age of onset with CTG trinucleotide repeat amplification in myotonic dystrophy

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Characterization of the myotonic dystrophy region predicts multiple protein isoform-encoding mRNAs

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Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice.

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Myotonic dystrophy protein kinase (DMPK) induces actin cytoskeletal reorganization and apoptotic-like blebbing in lens cells

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Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms.

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Altered phosphorylation and intracellular distribution of a (CUG)n triplet repeat RNA-binding protein in patients with myotonic dystrophy and in myotonin protein kinase knockout mice

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7 January 2021

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Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10911990%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

1 reference