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RNA-protein interactions in unstable microsatellite diseases.
scientific article
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Europe PubMed Central
PMCID
4174988
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24709120%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 March 2020
title
RNA-protein interactions in unstable microsatellite diseases
(English)
1 reference
stated in
Europe PubMed Central
PMCID
4174988
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24709120%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 March 2020
main subject
microsatellite
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based on heuristic
inferred from title
author
Maurice S. Swanson
series ordinal
3
1 reference
stated in
Europe PubMed Central
PMCID
4174988
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24709120%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 March 2020
author name string
Apoorva Mohan
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMCID
4174988
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24709120%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 March 2020
Marianne Goodwin
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMCID
4174988
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24709120%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 March 2020
language of work or name
English
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publication date
4 April 2014
1 reference
stated in
Europe PubMed Central
PMCID
4174988
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24709120%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 March 2020
published in
Brain Research
1 reference
stated in
Europe PubMed Central
PMCID
4174988
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24709120%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 March 2020
volume
1584
1 reference
stated in
Europe PubMed Central
PMCID
4174988
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24709120%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 March 2020
page(s)
3-14
1 reference
stated in
Europe PubMed Central
PMCID
4174988
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24709120%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 March 2020
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Sequestration of DROSHA and DGCR8 by expanded CGG RNA repeats alters microRNA processing in fragile X-associated tremor/ataxia syndrome.
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The disease-associated r(GGGGCC)n repeat from the C9orf72 gene forms tract length-dependent uni- and multimolecular RNA G-quadruplex structures
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Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS
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The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS.
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The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs
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C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes
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Molecular, physiological, and motor performance defects in DMSXL mice carrying >1,000 CTG repeats from the human DM1 locus
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6 July 2018
The myotonic dystrophies: molecular, clinical, and therapeutic challenges
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6 July 2018
Msh2-Msh3 interferes with Okazaki fragment processing to promote trinucleotide repeat expansions
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6 July 2018
Transcriptome-wide regulation of pre-mRNA splicing and mRNA localization by muscleblind proteins
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6 July 2018
Myotonic dystrophy: is a narrow focus obscuring the rest of the field?
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6 July 2018
Muscleblind-like 2-mediated alternative splicing in the developing brain and dysregulation in myotonic dystrophy
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6 July 2018
Targeting nuclear RNA for in vivo correction of myotonic dystrophy
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6 July 2018
Mouse model of muscleblind-like 1 overexpression: skeletal muscle effects and therapeutic promise
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6 July 2018
The RNA-binding protein Staufen1 is increased in DM1 skeletal muscle and promotes alternative pre-mRNA splicing
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4174988
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6 July 2018
RNA-binding proteins in microsatellite expansion disorders: mediators of RNA toxicity
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6 July 2018
5'-UTR RNA G-quadruplexes: translation regulation and targeting
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6 July 2018
New function for the RNA helicase p68/DDX5 as a modifier of MBNL1 activity on expanded CUG repeats
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6 July 2018
Repetitive DNA and next-generation sequencing: computational challenges and solutions
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6 July 2018
Mouse models of the fragile x premutation and the fragile X associated tremor/ataxia syndrome
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6 July 2018
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
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6 July 2018
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS
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6 July 2018
Triplet repeat RNA structure and its role as pathogenic agent and therapeutic target
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6 July 2018
Decreased fragile X mental retardation protein expression underlies amygdala dysfunction in carriers of the fragile X premutation.
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6 July 2018
Cellular toxicity of expanded RNA repeats: focus on RNA foci
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6 July 2018
Myotonic dystrophy mouse models: towards rational therapy development.
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6 July 2018
Crystal structures of CGG RNA repeats with implications for fragile X-associated tremor ataxia syndrome
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6 July 2018
Analysis of exonic regions involved in nuclear localization, splicing activity, and dimerization of Muscleblind-like-1 isoforms
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6 July 2018
Transcription-induced DNA toxicity at trinucleotide repeats: double bubble is trouble
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6 July 2018
Initiation of translation of the FMR1 mRNA Occurs predominantly through 5'-end-dependent ribosomal scanning
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4174988
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6 July 2018
Non-ATG-initiated translation directed by microsatellite expansions
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4174988
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6 July 2018
Bidirectional transcription stimulates expansion and contraction of expanded (CTG)*(CAG) repeats.
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PubMed Central
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6 July 2018
Developments in RNA splicing and disease
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PubMed Central
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6 July 2018
Expanded CTG repeat demarcates a boundary for abnormal CpG methylation in myotonic dystrophy patient tissues
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PubMed Central
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6 July 2018
Premutation CGG-repeat expansion of the Fmr1 gene impairs mouse neocortical development.
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PubMed Central
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6 July 2018
New insights into repeat instability: role of RNA•DNA hybrids
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6 July 2018
Atomic resolution structure of CAG RNA repeats: structural insights and implications for the trinucleotide repeat expansion diseases
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4174988
retrieved
6 July 2018
Long intronic GAA repeats causing Friedreich ataxia impede transcription elongation
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4174988
retrieved
6 July 2018
Partners in crime: bidirectional transcription in unstable microsatellite disease
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4174988
retrieved
6 July 2018
Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4174988
retrieved
6 July 2018
Repeat expansion disease: progress and puzzles in disease pathogenesis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4174988
retrieved
6 July 2018
Repeat instability as the basis for human diseases and as a potential target for therapy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4174988
retrieved
6 July 2018
Structural diversity of triplet repeat RNAs
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4174988
retrieved
6 July 2018
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4174988
retrieved
6 July 2018
Fibroblast phenotype in male carriers of FMR1 premutation alleles
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4174988
retrieved
6 July 2018
Pentamidine reverses the splicing defects associated with myotonic dystrophy.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4174988
retrieved
6 July 2018
A simple ligand that selectively targets CUG trinucleotide repeats and inhibits MBNL protein binding.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4174988
retrieved
6 July 2018
Instability and chromatin structure of expanded trinucleotide repeats
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4174988
retrieved
6 July 2018
Ectopic expression of CGG containing mRNA is neurotoxic in mammals
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4174988
retrieved
6 July 2018
Structural insights into RNA recognition by the alternative-splicing regulator muscleblind-like MBNL1
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4174988
retrieved
6 July 2018
CTCF cis-regulates trinucleotide repeat instability in an epigenetic manner: a novel basis for mutational hot spot determination
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4174988
retrieved
6 July 2018
Mechanisms of RNA-mediated disease.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4174988
retrieved
6 July 2018
The biological effects of simple tandem repeats: lessons from the repeat expansion diseases
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4174988
retrieved
6 July 2018
DNA instability in postmitotic neurons
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4174988
retrieved
6 July 2018
Expanded CTG repeats within the DMPK 3' UTR causes severe skeletal muscle wasting in an inducible mouse model for myotonic dystrophy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4174988
retrieved
6 July 2018
Correction of ClC-1 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4174988
retrieved
6 July 2018
Increased steady-state levels of CUGBP1 in myotonic dystrophy 1 are due to PKC-mediated hyperphosphorylation
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4174988
retrieved
6 July 2018
An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4174988
retrieved
6 July 2018
Elevation of RNA-binding protein CUGBP1 is an early event in an inducible heart-specific mouse model of myotonic dystrophy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4174988
retrieved
6 July 2018
Muscleblind-like 1 interacts with RNA hairpins in splicing target and pathogenic RNAs
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4174988
retrieved
6 July 2018
Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of fragile X tremor/ataxia syndrome.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4174988
retrieved
6 July 2018
Expandable DNA repeats and human disease.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4174988
retrieved
6 July 2018
CTG trinucleotide repeat "big jumps": large expansions, small mice
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4174988
retrieved
6 July 2018
RNA-dominant diseases
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4174988
retrieved
6 July 2018
Interaction of muscleblind, CUG-BP1 and hnRNP H proteins in DM1-associated aberrant IR splicing
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4174988
retrieved
6 July 2018
Reversible model of RNA toxicity and cardiac conduction defects in myotonic dystrophy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4174988
retrieved
6 July 2018
Reversal of RNA missplicing and myotonia after muscleblind overexpression in a mouse poly(CUG) model for myotonic dystrophy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4174988
retrieved
6 July 2018
RNA-mediated neuromuscular disorders
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4174988
retrieved
6 July 2018
DM2 intronic expansions: evidence for CCUG accumulation without flanking sequence or effects on ZNF9 mRNA processing or protein expression
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4174988
retrieved
6 July 2018
Transcription promotes contraction of CAG repeat tracts in human cells
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4174988
retrieved
6 July 2018
RNA-dependent integrin alpha3 protein localization regulated by the Muscleblind-like protein MLP1
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4174988
retrieved
6 July 2018
The structural basis of myotonic dystrophy from the crystal structure of CUG repeats
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4174988
retrieved
6 July 2018
Repeat instability: mechanisms of dynamic mutations
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4174988
retrieved
6 July 2018
HnRNP H inhibits nuclear export of mRNA containing expanded CUG repeats and a distal branch point sequence
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4174988
retrieved
6 July 2018
A muscleblind knockout model for myotonic dystrophy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4174988
retrieved
6 July 2018
RNA structure of trinucleotide repeats associated with human neurological diseases
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4174988
retrieved
6 July 2018
Puralpha is essential for postnatal brain development and developmentally coupled cellular proliferation as revealed by genetic inactivation in the mouse
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4174988
retrieved
6 July 2018
The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4174988
retrieved
6 July 2018
Evidence of cis-acting factors in replication-mediated trinucleotide repeat instability in primate cells.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4174988
retrieved
6 July 2018
Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4174988
retrieved
6 July 2018
Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4174988
retrieved
6 July 2018
Transgenic mice carrying large human genomic sequences with expanded CTG repeat mimic closely the DM CTG repeat intergenerational and somatic instability.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4174988
retrieved
6 July 2018
Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4174988
retrieved
6 July 2018
Transcriptional abnormality in myotonic dystrophy affects DMPK but not neighboring genes
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4174988
retrieved
6 July 2018
Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4174988
retrieved
6 July 2018
Classification and purification of proteins of heterogeneous nuclear ribonucleoprotein particles by RNA-binding specificities
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4174988
retrieved
6 July 2018
Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4174988
retrieved
28 October 2018
hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4174988
retrieved
28 October 2018
Expanded CTG repeats trigger miRNA alterations in Drosophila that are conserved in myotonic dystrophy type 1 patients.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4174988
retrieved
28 October 2018
RNA-binding proteins hnRNP A2/B1 and CUGBP1 suppress fragile X CGG premutation repeat-induced neurodegeneration in a Drosophila model of FXTAS.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4174988
retrieved
28 October 2018
Protein composition of the intranuclear inclusions of FXTAS.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4174988
retrieved
28 October 2018
Induction of inclusion formation and disruption of lamin A/C structure by premutation CGG-repeat RNA in human cultured neural cells
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4174988
retrieved
28 October 2018
Dramatic tissue-specific mutation length increases are an early molecular event in Huntington disease pathogenesis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4174988
retrieved
28 October 2018
RNA-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in Drosophila
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4174988
retrieved
28 October 2018
Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4174988
retrieved
28 October 2018
Mice transgenic for the human myotonic dystrophy region with expanded CTG repeats display muscular and brain abnormalities.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4174988
retrieved
28 October 2018
Dysregulation of human brain microtubule-associated tau mRNA maturation in myotonic dystrophy type 1.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4174988
retrieved
28 October 2018
A tetranucleotide polymorphic microsatellite, located in the first intron of the tyrosine hydroxylase gene, acts as a transcription regulatory element in vitro
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4174988
retrieved
28 October 2018
Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4174988
retrieved
28 October 2018
Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24709120
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Stochastic and reversible aggregation of mRNA with expanded CUG-triplet repeats
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24709120
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Splicing Factors Induce Cystic Fibrosis Transmembrane Regulator Exon 9 Skipping through a Nonevolutionary Conserved Intronic Element
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24709120
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Misregulation of miR-1 processing is associated with heart defects in myotonic dystrophy
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24709120
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24709120
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24709120
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1016/J.BRAINRES.2014.03.039
1 reference
stated in
Europe PubMed Central
PMCID
4174988
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24709120%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 March 2020
Fatcat ID
release_uazlj2fqi5eaxcwuvjgwselawy
1 reference
stated in
Fatcat
reference URL
https://api.fatcat.wiki/v0/release/uazlj2fqi5eaxcwuvjgwselawy
retrieved
24 November 2022
based on heuristic
mapped directly with Wikidata item
PMCID
4174988
1 reference
stated in
Europe PubMed Central
PMCID
4174988
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24709120%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 March 2020
PubMed ID
24709120
1 reference
stated in
Europe PubMed Central
PMCID
4174988
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24709120%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 March 2020
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