Features of trinucleotide repeat instability in vivo (Q37048169)

17 August 2017

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title

Features of trinucleotide repeat instability in vivo (English)

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17 August 2017

2

Cynthia T McMurray

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17 August 2017

Irina V Kovtun

1

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17 August 2017

publication date

1 January 2008

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17 August 2017

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17 August 2017

volume

18

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17 August 2017

issue

1

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17 August 2017

page(s)

198-213

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Hypervariabflity of simple sequences as a general source for polymorphic DNA markers

17 August 2017

cites work

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Simple sequence repeats in prokaryotic genomes

21 January 2018

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Microsatellites in different eukaryotic genomes: survey and analysis

21 January 2018

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Divergent microsatellite evolution in the human and chimpanzee lineages.

21 January 2018

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Survey of human and rat microsatellites.

21 January 2018

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Codon repeats in genes associated with human diseases: fewer repeats in the genes of nonhuman primates and nucleotide substitutions concentrated at the sites of reiteration

21 January 2018

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High-resolution genome-wide mapping of transposon integration in mammals

21 January 2018

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Meiotic recombination hot spots and human DNA diversity.

21 January 2018

1 reference

Diseases of unstable repeat expansion: mechanisms and common principles

21 January 2018

1 reference

Expandable DNA repeats and human disease.

21 January 2018

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Isolation and characterization of allelic losses and gains in colorectal tumors by arbitrarily primed polymerase chain reaction

21 January 2018

1 reference

Searching for microsatellite mutations in coding regions in lung, breast, ovarian and colorectal cancers.

21 January 2018

1 reference

Heritable germline epimutation of MSH2 in a family with hereditary nonpolyposis colorectal cancer

21 January 2018

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Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer

21 January 2018

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MLH1 Germline Epimutations as a Factor in Hereditary Nonpolyposis Colorectal Cancer

21 January 2018

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Familial endometrial cancer in female carriers of MSH6 germline mutations

21 January 2018

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Biallelic somatic inactivation of the mismatch repair gene MLH1 in a primary skin melanoma.

21 January 2018

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Germline epimutation of MLH1 in individuals with multiple cancers

21 January 2018

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Tumor microsatellite instability in early onset gastric cancer

21 January 2018

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Incidence and functional consequences of hMLH1 promoter hypermethylation in colorectal carcinoma

21 January 2018

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A role for methylation of the hMLH1 promoter in loss of hMLH1 expression and drug resistance in ovarian cancer

21 January 2018

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Simple sequence repeats as advantageous mutators in evolution

21 January 2018

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Genetic instability in cancer: theory and experiment

21 January 2018

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Microsatellite instability in yeast: dependence on repeat unit size and DNA mismatch repair genes

21 January 2018

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Replication slippage involves DNA polymerase pausing and dissociation

21 January 2018

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Mismatch repair-driven mutational bias in D. melanogaster

21 January 2018

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Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice

21 January 2018

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Somatic expansion behaviour of the (CTG)n repeat in myotonic dystrophy knock-in mice is differentially affected by Msh3 and Msh6 mismatch-repair proteins

21 January 2018

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Mismatch repair gene Msh2 modifies the timing of early disease in Hdh(Q111) striatum

21 January 2018

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CTG repeat instability and size variation timing in DNA repair-deficient mice

21 January 2018

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(CAG)(n)-hairpin DNA binds to Msh2-Msh3 and changes properties of mismatch recognition

21 January 2018

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Trinucleotide repeats: mechanisms and pathophysiology

21 January 2018

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Trinucleotide repeat length instability and age of onset in Huntington's disease

21 January 2018

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Mitotic stability and meiotic variability of the (CAG)n repeat in the Huntington disease gene

21 January 2018

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A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3.

21 January 2018

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Increased instability of intermediate alleles in families with sporadic Huntington disease compared to similar sized intermediate alleles in the general population

21 January 2018

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Analysis of germline mutation spectra at the Huntington's disease locus supports a mitotic mutation mechanism

21 January 2018

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Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: quantification of the mutation frequency spectrum

21 January 2018

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Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm.

21 January 2018

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Dramatic tissue-specific mutation length increases are an early molecular event in Huntington disease pathogenesis

21 January 2018

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Dramatic mutation instability in HD mouse striatum: does polyglutamine load contribute to cell-specific vulnerability in Huntington's disease?

21 January 2018

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Mitotic stability of fragile X mutations in differentiated cells indicates early post-conceptional trinucleotide repeat expansion

21 January 2018

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Instability of highly expanded CAG repeats in mice transgenic for the Huntington's disease mutation.

21 January 2018

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Studying human mutations by sperm typing: instability of CAG trinucleotide repeats in the human androgen receptor gene.

21 January 2018

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Hairpins are formed by the single DNA strands of the fragile X triplet repeats: structure and biological implications

21 January 2018

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Trinucleotide repeats that expand in human disease form hairpin structures in vitro

21 January 2018

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DNA secondary structure: a common and causative factor for expansion in human disease

21 January 2018

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Hairpin properties of single-stranded DNA containing a GC-rich triplet repeat: (CTG)15.

21 January 2018

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Slipped strand DNA structures

21 January 2018

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Expansion and deletion of CTG repeats from human disease genes are determined by the direction of replication in E. coli

21 January 2018

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Stability of a CTG/CAG trinucleotide repeat in yeast is dependent on its orientation in the genome

21 January 2018

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Orientation-dependent and sequence-specific expansions of CTG/CAG trinucleotide repeats in Saccharomyces cerevisiae

21 January 2018

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Genetic assays for measuring rates of (CAG).(CTG) repeat instability in Escherichia coli

21 January 2018

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Deletion errors generated during replication of CAG repeats

21 January 2018

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Proofreading and secondary structure processing determine the orientation dependence of CAG x CTG trinucleotide repeat instability in Escherichia coli

21 January 2018

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Cloning, characterization and properties of plasmids containing CGG triplet repeats from the FMR-1 gene

21 January 2018

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CGG/CCG repeats exhibit orientation-dependent instability and orientation-independent fragility in Saccharomyces cerevisiae

21 January 2018

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Cloned human FMR1 trinucleotide repeats exhibit a length- and orientation-dependent instability suggestive of in vivo lagging strand secondary structure

21 January 2018

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

21 January 2018

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Hairpin formation in Friedreich's ataxia triplet repeat expansion.

21 January 2018

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Base stacking and even/odd behavior of hairpin loops in DNA triplet repeat slippage and expansion with DNA polymerase

21 January 2018

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Transcription increases the deletion frequency of long CTG.CAG triplet repeats from plasmids in Escherichia coli

21 January 2018

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Transcription promotes contraction of CAG repeat tracts in human cells

21 January 2018

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Pausing of DNA synthesis in vitro at specific loci in CTG and CGG triplet repeats from human hereditary disease genes.

21 January 2018

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Weak strand displacement activity enables human DNA polymerase beta to expand CAG/CTG triplet repeats at strand breaks

21 January 2018

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Analysis of Strand Slippage in DNA Polymerase Expansions of CAG/CTG Triplet Repeats Associated with Neurodegenerative Disease

21 January 2018

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Effects of sequence on repeat expansion during DNA replication

21 January 2018

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Replication and expansion of trinucleotide repeats in yeast

21 January 2018

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

21 January 2018

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Unfolding of quadruplex structure in the G-rich strand of the minisatellite repeat by the binding protein UP1.

21 January 2018

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Human Bloom protein stimulates flap endonuclease 1 activity by resolving DNA secondary structure

21 January 2018

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Srs2 helicase of Saccharomyces cerevisiae selectively unwinds triplet repeat DNA.

21 January 2018

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Replication restart: a pathway for (CTG).(CAG) repeat deletion in Escherichia coli.

21 January 2018

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Genetic recombination destabilizes (CTG)n.(CAG)n repeats in E. coli.

21 January 2018

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Expansions and Contractions in a Tandem Repeat Induced by Double-Strand Break Repair

21 January 2018

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Meiotic instability of CAG repeat tracts occurs by double-strand break repair in yeast

21 January 2018

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Recombination-induced CAG trinucleotide repeat expansions in yeast involve the MRE11-RAD50-XRS2 complex

21 January 2018

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Nucleotide excision repair affects the stability of long transcribed (CTG*CAG) tracts in an orientation-dependent manner in Escherichia coli

21 January 2018

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Inhibition of FEN-1 processing by DNA secondary structure at trinucleotide repeats

21 January 2018

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Flap endonuclease 1: a central component of DNA metabolism

21 January 2018

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Saccharomyces cerevisiae flap endonuclease 1 uses flap equilibration to maintain triplet repeat stability

21 January 2018

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Somatic deletion events occur during early embryonic development and modify the extent of CAG expansion in subsequent generations

21 January 2018

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OGG1 initiates age-dependent CAG trinucleotide expansion in somatic cells

21 January 2018

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CAG*CTG repeat instability in cultured human astrocytes

21 January 2018

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Replication Inhibitors Modulate Instability of an Expanded Trinucleotide Repeat at the Myotonic Dystrophy Type 1 Disease Locus in Human Cells

21 January 2018

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Instability of the CAG repeat in immortalized fibroblast cell cultures from Huntington's disease transgenic mice

21 January 2018

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Deletion of a DNA polymerase beta gene segment in T cells using cell type-specific gene targeting

21 January 2018

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Haploinsufficiency of Flap endonuclease (Fen1) leads to rapid tumor progression

21 January 2018

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Nuclease-deficient FEN-1 blocks Rad51/BRCA1-mediated repair and causes trinucleotide repeat instability

21 January 2018

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Fen1 does not control somatic hypermutability of the (CTG)(n)*(CAG)(n) repeat in a knock-in mouse model for DM1.

21 January 2018

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Trinucleotide expansion in haploid germ cells by gap repair

21 January 2018

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Huntington disease expansion mutations in humans can occur before meiosis is completed

21 January 2018

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Factors associated with HD CAG repeat instability in Huntington disease

21 January 2018

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MSH2-dependent germinal CTG repeat expansions are produced continuously in spermatogonia from DM1 transgenic mice.

21 January 2018

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Intergenerational instability of the expanded CTG repeat in the DMPK gene: studies in human gametes and preimplantation embryos

21 January 2018

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Inherited CAG.CTG allele length is a major modifier of somatic mutation length variability in Huntington disease

21 January 2018

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Transgenic mice carrying large human genomic sequences with expanded CTG repeat mimic closely the DM CTG repeat intergenerational and somatic instability.

21 January 2018

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

21 January 2018

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CpG methylation modifies the genetic stability of cloned repeat sequences

21 January 2018

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Genome-wide demethylation destabilizes CTG.CAG trinucleotide repeats in mammalian cells

21 January 2018

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CTCF-binding sites flank CTG/CAG repeats and form a methylation-sensitive insulator at the DM1 locus

21 January 2018

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

21 January 2018

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Candidate DNA replication initiation regions at human trinucleotide repeat disease loci

21 January 2018

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A late origin of DNA replication in the trinucleotide repeat region of the human FMR2 gene

21 January 2018

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An origin of DNA replication in the promoter region of the human fragile X mental retardation (FMR1) gene

21 January 2018

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Moderate intergenerational and somatic instability of a 55-CTG repeat in transgenic mice.

21 January 2018

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Absence of disease phenotype and intergenerational stability of the CAG repeat in transgenic mice expressing the human Huntington disease transcript

21 January 2018

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A YAC mouse model for Huntington's disease with full-length mutant huntingtin, cytoplasmic toxicity, and selective striatal neurodegeneration.

21 January 2018

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SCA1 transgenic mice: A model for neurodegeneration caused by an expanded CAG trinucleotide repeat

21 January 2018

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CTG trinucleotide repeat "big jumps": large expansions, small mice

21 January 2018

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Mutations in Yeast Replication Proteins That Increase CAG/CTG Expansions Also Increase Repeat Fragility

21 January 2018

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Fragile and unstable chromosomes in cancer: causes and consequences

21 January 2018

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Chromosomal translocations in yeast induced by low levels of DNA polymerase a model for chromosome fragile sites.

21 January 2018

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Genome-wide replication profiles of S-phase checkpoint mutants reveal fragile sites in yeast

21 January 2018

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21 January 2018

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Cycles of chromosome instability are associated with a fragile site and are increased by defects in DNA replication and checkpoint controls in yeast

21 January 2018

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DNA polymerase alpha inhibition by aphidicolin induces gaps and breaks at common fragile sites in human chromosomes

21 January 2018

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ATR Regulates Fragile Site Stability

21 January 2018

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Aphidicolin-induced FRA3B breakpoints cluster in two distinct regions

21 January 2018

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Molecular basis for expression of common and rare fragile sites

21 January 2018

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Mechanisms of common fragile site instability.

21 January 2018

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ATR homolog Mec1 promotes fork progression, thus averting breaks in replication slow zones.

21 January 2018

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Chk1 and p21 cooperate to prevent apoptosis during DNA replication fork stress

21 January 2018

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21 January 2018

Common fragile sites.

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Replisome instability, fork collapse, and gross chromosomal rearrangements arise synergistically from Mec1 kinase and RecQ helicase mutations

21 January 2018

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Pms2 is a genetic enhancer of trinucleotide CAG.CTG repeat somatic mosaicism: implications for the mechanism of triplet repeat expansion

21 January 2018

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Analysis of mismatch repair genes in hereditary non–polyposis colorectal cancer patients

21 January 2018

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Background Mutation Frequency in Microsatellite-Unstable Colorectal Cancer

21 January 2018

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Double-strand break repair can lead to high frequencies of deletions within short CAG/CTG trinucleotide repeats

21 January 2018

2 references

21 January 2018

7 January 2021

Mouse tissue culture models of unstable triplet repeats: in vitro selection for larger alleles, mutational expansion bias and tissue specificity, but no association with cell division rates

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Hypermutable myotonic dystrophy CTG repeats in transgenic mice

21 January 2018

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Cis-acting modifiers of expanded CAG/CTG triplet repeat expandability: associations with flanking GC content and proximity to CpG islands

21 January 2018

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Simple repetitive DNA sequences from primates: compilation and analysis

21 January 2018

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7 January 2021

Chromosome fragile sites

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7 January 2021

Hereditary colorectal cancer syndromes: an overview

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7 January 2021

Hereditary colorectal cancer

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7 January 2021

Ovarian cancer of endometrioid type as part of the MSH6 gene mutation phenotype

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7 January 2021

Immunohistochemical pattern of hMSH2/hMLH1 in familial and sporadic colorectal, gastric, endometrial and ovarian carcinomas with instability in microsatellite sequences

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7 January 2021

Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1.

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7 January 2021

Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington disease: evidence from single sperm analyses

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7 January 2021

Influence of hairpins on template reannealing at trinucleotide repeat duplexes: a model for slipped DNA

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7 January 2021

Single-stranded DNA-binding protein enhances the stability of CTG triplet repeats in Escherichia coli

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7 January 2021

Slipped (CTG)*(CAG) repeats can be correctly repaired, escape repair or undergo error-prone repair

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7 January 2021

Repeat expansion--all in a flap?

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7 January 2021

Expansion and deletion of triplet repeat sequences in Escherichia coli occur on the leading strand of DNA replication

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7 January 2021

Expansions of CAG Repeat Tracts are Frequent in a Yeast Mutant Defective in Okazaki Fragment Maturation

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7 January 2021

Modulation of transcription reveals a new mechanism of triplet repeat instability in Escherichia coli

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7 January 2021

Hairpin formation during DNA synthesis primer realignment in vitro in triplet repeat sequences from human hereditary disease genes

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7 January 2021

Trinucleotide repeats affect DNA replication in vivo

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7 January 2021

Unfolding of higher DNA structures formed by the d(CGG) triplet repeat by UP1 protein

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7 January 2021

Human werner syndrome DNA helicase unwinds tetrahelical structures of the fragile X syndrome repeat sequence d(CGG)n

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7 January 2021

Interactions between the Werner syndrome helicase and DNA polymerase delta specifically facilitate copying of tetraplex and hairpin structures of the d(CGG)n trinucleotide repeat sequence

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7 January 2021

Expansion and Length-Dependent Fragility of CTG Repeats in Yeast

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7 January 2021

Gene conversion (recombination) mediates expansions of CTG[middle dot]CAG repeats

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7 January 2021

Somatic stability of the expanded CAG trinucleotide repeat in X-linked spinal and bulbar muscular atrophy

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7 January 2021

Heterogeneity of DM kinase repeat expansion in different fetal tissues and further expansion during cell proliferation in vitro: evidence for a casual involvement of methyl-directed DNA mismatch repair in triplet repeat stability

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7 January 2021

Unusual mutations in high functioning fragile X males: apparent instability of expanded unmethylated CGG repeats

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7 January 2021

Stability of an expanded trinucleotide repeat in the androgen receptor gene in transgenic mice

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7 January 2021

Fragile sites still breaking

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7 January 2021

Expanded CAG repeats activate the DNA damage checkpoint pathway

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7 January 2021

Identifiers

DOI

10.1038/CR.2008.5

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17 August 2017

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