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Article

Instability of the fragile X syndrome repeat in mice: the effect of age, diet and mutations in genes that affect DNA replication, recombination and repair proficiency.

Cytogenetic and genome research - 1 Jan 2003

Fleming K, Riser D K, Kumari D, Usdin K

Abstract excerpt

Repeat expansion diseases such as fragile X syndrome (FXS) result from increases in the size of a specific tandem repeat array. In addition to large expansions, small changes in repeat number and deletions are frequently seen in FXS pedigrees. No mouse model accurately recapitulates all aspects o...

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PMID: 14526174
DOI: 10.1159/000072848

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-14526174-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Instability of the fragile X syndrome repeat in mice: the effect of age, diet and mutations in genes that affect DNA replication, recombination and repair proficiency.PMID 14526174Read ↗

ATR protects the genome against CGG.CCG-repeat expansion in Fragile X premutation mice.Semantic proximity Read ↗

Heterozygosity for a hypomorphic Polβ mutation reduces the expansion frequency in a mouse model of the Fragile X-related disorders.Semantic proximity Read ↗

FAN1 protects against repeat expansions in a Fragile X mouse model.Semantic proximity Read ↗

Repeat expansion in a Fragile X model is independent of double strand break repair mediated by Pol θ, Rad52, Rad54l or Rad54bSemantic proximity Read ↗

Somatic expansion in mouse and human carriers of fragile X premutation alleles.Semantic proximity Read ↗

Regional FMRP deficits and large repeat expansions into the full mutation range in a new Fragile X premutation mouse model.Semantic proximity Read ↗

A point mutation in the nuclease domain of MLH3 eliminates repeat expansions in a mouse stem cell model of the Fragile X-related disorders.Semantic proximity Read ↗

Gender and cell-type-specific effects of the transcription-coupled repair protein, ERCC6/CSB, on repeat expansion in a mouse model of the fragile X-related disorders.Semantic proximity Read ↗

The transcription-coupled repair protein ERCC6/CSB also protects against repeat expansion in a mouse model of the fragile X premutation.Semantic proximity Read ↗

FMR1 premutation allele (CGG)81 is stable in mice.Semantic proximity Read ↗

The mismatch repair protein MSH2 is rate limiting for repeat expansion in a fragile X premutation mouse model.Semantic proximity Read ↗

Absence of MutSβ leads to the formation of slipped-DNA for CTG/CAG contractions at primate replication forksSemantic proximity Read ↗

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