(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)

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

G Tiscornia

1

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

M S Mahadevan

series ordinal

2

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

publication date

1 June 2000

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

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

8 November 2019

volume

5

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

issue

6

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

page(s)

959-967

1 reference

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

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

8 November 2019

cites work

1 reference

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7 January 2021

Cis and trans effects of the myotonic dystrophy (DM) mutation in a cell culture model

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7 January 2021

Donor splice-site mutations in WT1 are responsible for Frasier syndrome

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7 January 2021

DMPK dosage alterations result in atrioventricular conduction abnormalities in a mouse myotonic dystrophy model

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Monoclonal antibody characterization of the C proteins of heterogeneous nuclear ribonucleoprotein complexes in vertebrate cells

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7 January 2021

Heterogeneous nuclear ribonucleoproteins: role in RNA splicing

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7 January 2021

Expansion of a CUG trinucleotide repeat in the 3' untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts

1 reference

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7 January 2021

Phosphorylation reactions of recombinant human myotonic dystrophy protein kinase and their inhibition

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7 January 2021

Myotonic protein kinase expression in human and bovine lenses

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7 January 2021

An unstable triplet repeat in a gene related to myotonic muscular dystrophy

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7 January 2021

Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy.

1 reference

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7 January 2021

Identification and purification of a 62,000-dalton protein that binds specifically to the polypyrimidine tract of introns

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7 January 2021

Expanding complexity in myotonic dystrophy

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7 January 2021

Transcriptional abnormality in myotonic dystrophy affects DMPK but not neighboring genes

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7 January 2021

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

1 reference

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

1 reference

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7 January 2021

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

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7 January 2021

Cell type-specific expression of hnRNP proteins

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2800%2980261-0

7 January 2021

Effect of Myotonic Dystrophy Trinucleotide Repeat Expansion on DMPK Transcription and Processing

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2800%2980261-0

7 January 2021

Polypyrimidine tract-binding protein positively regulates inclusion of an alternative 3'-terminal exon

1 reference

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7 January 2021

Identification, tissue-specific expression, and subcellular localization of the 80- and 71-kDa forms of myotonic dystrophy kinase protein

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2800%2980261-0

7 January 2021

Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene

1 reference

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7 January 2021

Membrane topology and retention of microsomal aldehyde dehydrogenase in the endoplasmic reticulum

1 reference

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7 January 2021

RNA metabolism in myotonic dystrophy: patient muscle shows decreased insulin receptor RNA and protein consistent with abnormal insulin resistance.

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2800%2980261-0

7 January 2021

Modulation of skeletal muscle sodium channels by human myotonin protein kinase

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2800%2980261-0

7 January 2021

Cloning and characterization of PSF, a novel pre-mRNA splicing factor

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2800%2980261-0

7 January 2021

Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2800%2980261-0

7 January 2021

Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2800%2980261-0

7 January 2021

Relationship between parental trinucleotide GCT repeat length and severity of myotonic dystrophy in offspring.

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2800%2980261-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2800%2980261-0

7 January 2021

Effect of the myotonic dystrophy (DM) mutation on mRNA levels of the DM gene

1 reference

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7 January 2021

Immunocytochemical localization of a full-length myotonin protein kinase in rat L6 myoblasts

1 reference

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7 January 2021

Maturational arrest of fetal muscle in neonatal myotonic dystrophy. A pathologic study of four cases

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7 January 2021

RNA binding specificity of hnRNP proteins: a subset bind to the 3' end of introns

1 reference

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7 January 2021

Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues

1 reference

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7 January 2021

Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy

1 reference

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7 January 2021

Novel proteins with binding specificity for DNA CTG repeats and RNA CUG repeats: implications for myotonic dystrophy

1 reference

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7 January 2021

Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy

1 reference

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7 January 2021

Myotonic dystrophy kinase is a component of neuromuscular junctions

1 reference

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7 January 2021

Myotonic dystrophy: evidence for a possible dominant-negative RNA mutation

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2800%2980261-0

7 January 2021

Investigation of myotonic dystrophy kinase isoform translocation and membrane association

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2800%2980261-0

7 January 2021

Identification, purification, and biochemical characterization of U2 small nuclear ribonucleoprotein auxiliary factor

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2800%2980261-0

7 January 2021

Coordinate repression of a trio of neuron-specific splicing events by the splicing regulator PTB

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2800%2980261-0

7 January 2021

10.1016/S1097-2765(00)80261-0

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