Friedreich's ataxia induced pluripotent stem cells model intergenerational GAA⋅TTC triplet repeat instability.

No abstract is available for this paper.

• Publication year

  2010

• Venue

  Cell Stem Cell

• Publication date

  2010-11-05

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1016/j.stem.2010.09.014PMID 21040903PMCID PMC2987635
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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• Differential modeling of fragile X syndrome by human embryonic stem cells and induced pluripotent stem cells.

  2010influential reference
• Large-scale expansions of Friedreich's ataxia GAA repeats in yeast.

  2009cited by this paper
• Intergenerational and striatal CAG repeat instability in Huntington's disease knock-in mice involve different DNA repair genes.

  2009cited by this paper
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  2009cited by this paper
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  2008cited by this paper
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  2008cited by this paper
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  2008cited by this paper
• Disease-specific induced pluripotent stem cells.

  2008cited by this paper
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  2008cited by this paper
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• Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

  2008cited by this paper
• OGG1 initiates age-dependent CAG trinucleotide expansion in somatic cells

  2007cited by this paper
• Trinucleotide repeat disorders.

  2007cited by this paper
• Small molecules affecting transcription in Friedreich ataxia.

  2007cited by this paper
• Expandable DNA repeats and human disease

  2007cited by this paper
• Induction of pluripotent stem cells from adult human fibroblasts by defined factors.

  2007cited by this paper
• The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues.

  2007cited by this paper
• Gene expression profiling in frataxin deficient mice: microarray evidence for significant expression changes without detectable neurodegeneration.

  2006cited by this paper
• Replication in mammalian cells recapitulates the locus-specific differences in somatic instability of genomic GAA triplet-repeats

  2006cited by this paper
• Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia

  2006influential reference
• GAA repeat instability in Friedreich ataxia YAC transgenic mice.

  2004cited by this paper
• DAVID: Database for Annotation, Visualization, and Integrated Discovery

  2003cited by this paper
• DAVID: Database for Annotation, Visualization, and Integrated Discovery

  2003cited by this paper
• CTG repeat instability and size variation timing in DNA repair‐deficient mice

  2003cited by this paper
• Frataxin knockin mouse

  2002cited by this paper
• Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method.

  2001cited by this paper
• Expansion and Deletion of Triplet Repeat Sequences inEscherichia coli Occur on the Leading Strand of DNA Replication*

  1999cited by this paper
• Cluster analysis and display of genome-wide expression patterns.

  1998cited by this paper
• The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure.

  1998cited by this paper
• The effect of parental gender on the GAA dynamic mutation in the FRDA gene.

  1997cited by this paper
• Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion

  1996influential reference
• Stability of triplet repeats of myotonic dystrophy and fragile X loci in human mutator mismatch repair cell lines

  1996cited by this paper

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  2024cites this paper
• A multiple animal and cellular models approach to study frataxin deficiency in Friedreich Ataxia.

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  2023cites this paper
• Site-specific R-loops induce CGG repeat contraction and fragile X gene reactivation.

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  2022cites this paper
• Replication dependent and independent mechanisms of GAA repeat instability.

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  2021cites this paper
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  2020cites this paper
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  2020cites this paper
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  2018cites this paper
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