(Q33513958)

27 July 2017

title

Progressive GAA.TTC repeat expansion in human cell lines (English)

1 reference

27 July 2017

Mimi C Sammarco

2

0 references

author name string

Scott Ditch

series ordinal

1

1 reference

27 July 2017

Ayan Banerjee

series ordinal

3

1 reference

27 July 2017

Ed Grabczyk

series ordinal

4

1 reference

27 July 2017

publication date

30 October 2009

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27 July 2017

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27 July 2017

volume

5

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27 July 2017

issue

10

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27 July 2017

page(s)

e1000704

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Creative Commons Attribution 4.0 International

27 July 2017

copyright license

start time

30 October 2009

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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E. coli mismatch repair acts downstream of replication fork stalling to stabilize the expanded (GAA.TTC)(n) sequence

28 July 2018

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Chromosome fragility at GAA tracts in yeast depends on repeat orientation and requires mismatch repair

28 July 2018

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Long intronic GAA*TTC repeats induce epigenetic changes and reporter gene silencing in a molecular model of Friedreich ataxia

28 July 2018

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Repair of DNA double-strand breaks within the (GAA*TTC)n sequence results in frequent deletion of the triplet-repeat sequence

28 July 2018

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Deficiency of RecA-dependent RecFOR and RecBCD pathways causes increased instability of the (GAA*TTC)n sequence when GAA is the lagging strand template

28 July 2018

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A persistent RNA.DNA hybrid formed by transcription of the Friedreich ataxia triplet repeat in live bacteria, and by T7 RNAP in vitro

28 July 2018

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Transcription-induced CAG repeat contraction in human cells is mediated in part by transcription-coupled nucleotide excision repair

28 July 2018

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OGG1 initiates age-dependent CAG trinucleotide expansion in somatic cells

28 July 2018

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Trinucleotide Repeat Disorders

28 July 2018

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Replication in mammalian cells recapitulates the locus-specific differences in somatic instability of genomic GAA triplet-repeats

28 July 2018

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Transcription promotes contraction of CAG repeat tracts in human cells

28 July 2018

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Repeat instability: mechanisms of dynamic mutations

28 July 2018

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Human XPC-hHR23B interacts with XPA-RPA in the recognition of triplex-directed psoralen DNA interstrand crosslinks

28 July 2018

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Human 5' --> 3' exonuclease Xrn2 promotes transcription termination at co-transcriptional cleavage sites

28 July 2018

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Pms2 is a genetic enhancer of trinucleotide CAG.CTG repeat somatic mosaicism: implications for the mechanism of triplet repeat expansion

28 July 2018

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Replication stalling at Friedreich's ataxia (GAA)n repeats in vivo.

28 July 2018

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CTG repeat instability and size variation timing in DNA repair-deficient mice

28 July 2018

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Human XPA and RPA DNA repair proteins participate in specific recognition of triplex-induced helical distortions

28 July 2018

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Multiple transcript cleavage precedes polymerase release in termination by RNA polymerase II

28 July 2018

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DNA repeat expansions and human disease

28 July 2018

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The GAA*TTC triplet repeat expanded in Friedreich's ataxia impedes transcription elongation by T7 RNA polymerase in a length and supercoil dependent manner

28 July 2018

1 reference

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Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice

28 July 2018

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Parental gender, age at birth and expansion length influence GAA repeat intergenerational instability in the X25 gene: pedigree studies and analysis of sperm from patients with Friedreich's ataxia.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2760145

Sperm DNA analysis in a Friedreich ataxia premutation carrier suggests both meiotic and mitotic expansion in the FRDA gene

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2760145

The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2760145

Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2760145

Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2760145

The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2760145

Mutagenesis in mammalian cells induced by triple helix formation and transcription-coupled repair

28 July 2018

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Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2760145

28 July 2018

Triplex DNA structures.

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The chemistry and biology of unusual DNA structures adopted by oligopurine.oligopyrimidine sequences

28 July 2018

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Diseases of unstable repeat expansion: mechanisms and common principles

28 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000704

Expandable DNA repeats and human disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000704

Clinical and genetic abnormalities in patients with Friedreich's ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000704

The Friedreich ataxia GAA triplet repeat: premutation and normal alleles.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000704

Sticky DNA: self-association properties of long GAA.TTC repeats in R.R.Y triplex structures from Friedreich's ataxia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000704

Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000704

Replication-mediated instability of the GAA triplet repeat mutation in Friedreich ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000704

Progressive GAA expansions in dorsal root ganglia of Friedreich's ataxia patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000704

Inhibitory effects of expanded GAA.TTC triplet repeats from intron I of the Friedreich ataxia gene on transcription and replication in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000704

Large-scale expansions of Friedreich's ataxia GAA repeats in yeast

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000704

GAA repeat instability in Friedreich ataxia YAC transgenic mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000704

The GAA triplet-repeat is unstable in the context of the human FXN locus and displays age-dependent expansions in cerebellum and DRG in a transgenic mouse model.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000704

Molecular dissection of mammalian RNA polymerase II transcriptional termination

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000704

Somatic expansion behaviour of the (CTG)n repeat in myotonic dystrophy knock-in mice is differentially affected by Msh3 and Msh6 mismatch-repair proteins.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000704

Trinucleotide expansion in haploid germ cells by gap repair

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000704

Msh3 is a limiting factor in the formation of intergenerational CTG expansions in DM1 transgenic mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000704

The effect of parental gender on the GAA dynamic mutation in the FRDA gene

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2760145

DNA triplet repeats mediate heterochromatin-protein-1-sensitive variegated gene silencing

31 October 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000704

Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion

21 January 2018

1 reference

12 December 2020

Human MSH2 binds to trinucleotide repeat DNA structures associated with neurodegenerative diseases

1 reference

12 December 2020

Generation of microgram quantities of trinucleotide repeat tracts of defined length, interspersion pattern, and orientation

1 reference

12 December 2020

Expansion and deletion of triplet repeat sequences in Escherichia coli occur on the leading strand of DNA replication

1 reference

12 December 2020

Sticky DNA, a self-associated complex formed at long GAA*TTC repeats in intron 1 of the frataxin gene, inhibits transcription

1 reference

12 December 2020

The GAA triplet-repeat sequence in Friedreich ataxia shows a high level of somatic instability in vivo, with a significant predilection for large contractions

1 reference

12 December 2020

Friedreich ataxia in carriers of unstable borderline GAA triplet-repeat alleles

1 reference

12 December 2020

Slipped (CTG)*(CAG) repeats can be correctly repaired, escape repair or undergo error-prone repair

1 reference

12 December 2020

Somatic instability of the expanded GAA triplet-repeat sequence in Friedreich ataxia progresses throughout life

1 reference

12 December 2020

Somatic sequence variation at the Friedreich ataxia locus includes complete contraction of the expanded GAA triplet repeat, significant length variation in serially passaged lymphoblasts and enhanced mutagenesis in the flanking sequence

1 reference

12 December 2020

10.1371/JOURNAL.PGEN.1000704

Identifiers

DOI

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27 July 2017

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27 July 2017

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