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Trinucleotide Repeat Expansion

Known as: Repeats, Expanded Trinucleotide, Trinucleotide Repeats, Expanded, Repeat, Expanded Trinucleotide 
An increased number of contiguous trinucleotide repeats in the DNA sequence from one generation to the next. The presence of these regions is… Expand
National Institutes of Health

Related topics

Related topics

7 relations
Anticipation, GeneticChromosome Fragile SitesChromosome FragilityFragile X Syndrome
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Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2008
Review
2008
Fragile X Syndrome: Loss of Local mRNA Regulation Alters Synaptic Development and Function
Fragile X syndrome is the most common inherited form of cognitive deficiency in humans and perhaps the best-understood single… Expand
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Review
2004
Review
2004
The ankyrin repeat as molecular architecture for protein recognition.
The ankyrin repeat is one of the most frequently observed amino acid motifs in protein databases. This protein-protein… Expand
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Highly Cited
2003
Highly Cited
2003
Mitotic regulation of the human anaphase-promoting complex by phosphorylation.
The anaphase-promoting complex (APC) or cyclosome is a ubiquitin ligase that initiates anaphase and mitotic exit. APC activation… Expand
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Highly Cited
2000
Highly Cited
2000
Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10
Spinocerebellar ataxia type 10 (SCA10; MIM 603516; refs 1,2) is an autosomal dominant disorder characterized by cerebellar ataxia… Expand
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Highly Cited
1999
Highly Cited
1999
The F-box protein β-TrCP associates with phosphorylated β-catenin and regulates its activity in the cell
Abstract Defects in β-catenin regulation contribute to the neoplastic transformation of mammalian cells. Dysregulation of… Expand
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Highly Cited
1997
Highly Cited
1997
Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations.
Friedreich's ataxia, the most frequent inherited ataxia, is caused, in the vast majority of cases, by large GAA repeat expansions… Expand
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Highly Cited
1996
Highly Cited
1996
Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT
Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant, neurodegenerative disorder that affects the cerebellum and other… Expand
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Highly Cited
1995
Highly Cited
1995
Translational suppression by trinucleotide repeat expansion at FMR1
Fragile X syndrome is the result of the unstable expansion of a trinucleotide repeat in the 5'-untranslated region of the FMR1… Expand
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Highly Cited
1993
Highly Cited
1993
Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease
The molecular analysis of a specific CAG repeat sequence in the Huntington's disease gene in 440 Huntington's disease patients… Expand
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Highly Cited
1993
Highly Cited
1993
Microsatellite repeats in grapevine reveal DNA polymorphisms when analysed as sequence-tagged sites (STSs)
Microsatellite repeat sequences were investigated as sequenced-tagged site (STS) DNA markers to determine the potential for… Expand
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