(Q35179287)

7 August 2017

title

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

1 reference

7 August 2017

Paul M Rindler

1

1 reference

7 August 2017

Rhonda M Clark

2

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7 August 2017

Laura M Pollard

3

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7 August 2017

Irene De Biase

4

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7 August 2017

Sanjay I Bidichandani

5

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7 August 2017

language of work or name

English

0 references

publication date

16 November 2006

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7 August 2017

published in

Nucleic Acids Research

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7 August 2017

volume

34

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7 August 2017

issue

21

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7 August 2017

page(s)

6352-6361

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Repeat instability: mechanisms of dynamic mutations

7 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1669776

Mechanistic features of CAG*CTG repeat contractions in cultured cells revealed by a novel genetic assay

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1669776

Role of replication and CpG methylation in fragile X syndrome CGG deletions in primate cells

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1669776

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1669776

DNA elements important for CAG*CTG repeat thresholds in Saccharomyces cerevisiae.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1669776

Evidence of cis-acting factors in replication-mediated trinucleotide repeat instability in primate cells.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1669776

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=1669776

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=1669776

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=1669776

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1669776

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.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1669776

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1669776

Hairpin structure-forming propensity of the (CCTG.CAGG) tetranucleotide repeats contributes to the genetic instability associated with myotonic dystrophy type 2.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1669776

GAA repeat instability in Friedreich ataxia YAC transgenic mice.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1669776

Expansion of GAA triplet repeats in the human genome: unique origin of the FRDA mutation at the center of an Alu.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1669776

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1669776

Clinical and genetic abnormalities in patients with Friedreich's ataxia

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1669776

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

27 September 2018

1 reference

12 December 2020

Structure-dependent recombination hot spot activity of GAA.TTC sequences from intron 1 of the Friedreich's ataxia gene

1 reference

12 December 2020

Analysis of Unstable Triplet Repeats Using Small-Pool Polymerase Chain Reaction

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Expansion of GAA trinucleotide repeats in mammals

1 reference

12 December 2020

Identifiers

DOI

10.1093/NAR/GKL846

1 reference

7 August 2017

1 reference

7 August 2017

1 reference