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ProteomicsProteomic and Genomic Signatures of Repeat-instability in Cancer and Adjacent Normal Tissues
Repetitive sequences are hotspots of evolution at multiple levels. However, due to technical difficulties involved in their assembly and analysis, the role of repeats in tumor evolution is poorly understood. We developed a rigorous motif-based methodology to quantify variations in the repeat content...
ORGANISM(S): Homo sapiens (Human) 
2020-06-02 | PXD012574 | Pride
Tumor evolution Repeat-instability Proteomic signatures 
GenomicsMononucleotide repeat instability in blood
Analysis of mononucleotide repeat instability in blood using amplicon sequencing
PRJEB39600 | ENA
GenomicsSwi1/Timeless prevents repeat instability at fission yeast telomeres
Genomic instability associated with DNA replication stress is linked to cancer and genetic pathologies in humans. If not properly regulated, replication stress, such as fork stalling and collapse, can be induced at natural replication impediments present throughout the genome. The fork protection co...
ORGANISM(S): Schizosaccharomyces pombe 
2016-02-25 | E-GEOD-74487 | biostudies-arrayexpress
TranscriptomicsA novel approach to investigate tissue-specific trinucleotide repeat instability
In Huntington’s disease (HD), an expanded CAG repeat produces characteristic striatal neurodegeneration. Interestingly, the HD CAG repeat, whose length determines age at onset, undergoes tissue-specific somatic instability, predominant in the striatum, suggesting that tissue-specific CAG length chan...
ORGANISM(S): Mus musculus 
2011-04-01 | E-GEOD-19780 | biostudies-arrayexpress
TranscriptomicsA novel approach to investigate tissue-specific trinucleotide repeat instability
In Huntington’s disease (HD), an expanded CAG repeat produces characteristic striatal neurodegeneration. Interestingly, the HD CAG repeat, whose length determines age at onset, undergoes tissue-specific somatic instability, predominant in the striatum, suggesting that tissue-specific CAG length chan...
ORGANISM(S): Mus musculus 
2011-04-01 | GSE19780 | GEO
TranscriptomicsFriedreichâ??s Ataxia Induced Pluripotent Stem Cells Recapitulate GAAâ?¢TTC Triplet-Repeat Instability
The inherited neurodegenerative disease Friedreichâ??s ataxia (FRDA) is caused by hyperexpansion of GAAâ?¢TTC trinucleotide repeats within the first intron of the FXN gene, encoding the mitochondrial protein frataxin. Long GAAâ?¢TTC repeats causes heterochromatin-mediated silencing and loss of frata...
ORGANISM(S): Homo sapiens 
2010-07-30 | E-GEOD-22651 | biostudies-arrayexpress
TranscriptomicsFriedreich’s Ataxia Induced Pluripotent Stem Cells Recapitulate GAA•TTC Triplet-Repeat Instability
The inherited neurodegenerative disease Friedreich’s ataxia (FRDA) is caused by hyperexpansion of GAA•TTC trinucleotide repeats within the first intron of the FXN gene, encoding the mitochondrial protein frataxin. Long GAA•TTC repeats causes heterochromatin-mediated silencing and loss of frataxin in...
ORGANISM(S): Homo sapiens 
2010-07-02 | GSE22651 | GEO
TranscriptomicsA novel approach to investigate tissue-specific trinucleotide repeat instability - A validation set of prediction model
In Huntington’s disease (HD), an expanded CAG repeat produces characteristic striatal neurodegeneration. Interestingly, the HD CAG repeat, whose length determines age at onset, undergoes tissue-specific somatic instability, predominant in the striatum, suggesting that tissue-specific CAG length chan...
ORGANISM(S): Mus musculus 
2011-04-01 | E-GEOD-9025 | biostudies-arrayexpress
UnknownTissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat.
Not available
S-EPMC8994295 | biostudies-literature
UnknownModifiers of CAG/CTG Repeat Instability: Insights from Mammalian Models.
Not available
S-EPMC7990408 | biostudies-literature
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