(Q36277189)

13 August 2017

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title

Repeat instability: mechanisms of dynamic mutations (English)

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13 August 2017

author name string

Christopher E Pearson

series ordinal

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13 August 2017

Kerrie Nichol Edamura

series ordinal

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13 August 2017

John D Cleary

series ordinal

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13 August 2017

publication date

1 October 2005

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13 August 2017

published in

Nature Reviews Genetics

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13 August 2017

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13 August 2017

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13 August 2017

page(s)

729-742

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Slipping while sleeping? Trinucleotide repeat expansions in germ cells

13 August 2017

cites work

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

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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Age and insertion site dependence of repeat number instability of a human DM1 transgene in individual mouse sperm.

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

21 January 2018

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Increased trinucleotide repeat instability with advanced maternal age.

21 January 2018

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Characterization of the full fragile X syndrome mutation in fetal gametes

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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Extreme heterogeneity in the molecular events leading to the establishment of chiasmata during meiosis i in human oocytes

21 January 2018

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Postmortem examination of two fragile X brothers with an FMR1 full mutation

21 January 2018

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Role of replication and CpG methylation in fragile X syndrome CGG deletions in primate cells

21 January 2018

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FRAXE mutation analysis in three Spanish families.

21 January 2018

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Parental gender, age at birth and expansion length influence GAA repeat intergenerational instability in the X25 gene: pedigree studies and analysis of sperm from patients with Friedreich's ataxia.

21 January 2018

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Mechanism and timing of mitotic rearrangements in the subtelomeric D4Z4 repeat involved in facioscapulohumeral muscular dystrophy

21 January 2018

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Somatic stability in chorionic villi samples and other Huntington fetal tissues

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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Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes

21 January 2018

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Comparison of CTG repeat length expansion and clinical progression of myotonic dystrophy over a five year period

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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Somatic instability of the CTG repeat in mice transgenic for the myotonic dystrophy region is age dependent but not correlated to the relative intertissue transcription levels and proliferative capacities.

21 January 2018

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DNA repair in terminally differentiated cells

21 January 2018

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DNA repair during organogenesis

21 January 2018

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The contribution of <i>cis</i>-elements to disease-associated repeat instability: clinical and experimental evidence

21 January 2018

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Regional differences of somatic CAG repeat instability do not account for selective neuronal vulnerability in a knock-in mouse model of SCA1.

21 January 2018

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Transgenic mice harboring a full-length human mutant DRPLA gene exhibit age-dependent intergenerational and somatic instabilities of CAG repeats comparable with those in DRPLA patients.

21 January 2018

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Dramatic, expansion-biased, age-dependent, tissue-specific somatic mosaicism in a transgenic mouse model of triplet repeat instability.

21 January 2018

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GAA repeat instability in Friedreich ataxia YAC transgenic mice.

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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Comparative aspects of the brain growth spurt

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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Single cell analysis of CAG repeat in brains of dentatorubral-pallidoluysian atrophy (DRPLA).

21 January 2018

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Differential somatic CAG repeat instability in variable brain cell lineage in dentatorubral pallidoluysian atrophy (DRPLA): a laser-captured microdissection (LCM)-based analysis

21 January 2018

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Increased cell proliferation and neurogenesis in the adult human Huntington's disease brain

21 January 2018

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The expanded CAG repeat associated with juvenile Huntington disease shows a common origin of most or all neurons and glia in human cerebrum.

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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Somatic mosaicism in the central nervous system in spinocerebellar ataxia type 1 and Machado-Joseph disease

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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Brain regional differences in the expansion of a CAG repeat in the spinocerebellar ataxias: dentatorubral-pallidoluysian atrophy, Machado-Joseph disease, and spinocerebellar ataxia type 1.

21 January 2018

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Tissue-specific somatic mosaicism in spinal and bulbar muscular atrophy is dependent on CAG-repeat length and androgen receptor--gene expression level.

21 January 2018

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Larger CAG expansions in skeletal muscle compared with lymphocytes in Kennedy disease but not in Huntington disease

21 January 2018

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Somatic mosaicism for Friedreich's ataxia GAA triplet repeat expansions in the central nervous system.

21 January 2018

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Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1.

21 January 2018

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Interruptions in the Triplet Repeats of SCA1 and FRAXA Reduce the Propensity and Complexity of Slipped Strand DNA (S-DNA) Formation†

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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Androgen receptor YAC transgenic mice carrying CAG 45 alleles show trinucleotide repeat instability.

21 January 2018

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Genomic context drives SCA7 CAG repeat instability, while expressed SCA7 cDNAs are intergenerationally and somatically stable in transgenic mice

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 methylation represses FMR-1 transcription in fragile X syndrome

21 January 2018

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Timing of the absence of FMR1 expression in full mutation chorionic villi.

21 January 2018

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

21 January 2018

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Increase of FMRP expression, raised levels of FMR1 mRNA, and clonal selection in proliferating cells with unmethylated fragile X repeat expansions: a clue to the sex bias in the transmission of full mutations?

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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Triplet repeat expansion in myotonic dystrophy alters the adjacent chromatin structure

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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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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Structure-forming CAG/CTG repeat sequences are sensitive to breakage in the absence of Mrc1 checkpoint function and S-phase checkpoint signaling: implications for trinucleotide repeat expansion diseases

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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Replication fork dynamics and dynamic mutations: the fork-shift model of repeat instability

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

21 January 2018

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Human FEN-1 can process the 5'-flap DNA of CTG/CAG triplet repeat derived from human genetic diseases by length and sequence dependent manner.

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

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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A SCA7 CAG/CTG repeat expansion is stable in Drosophila melanogaster despite modulation of genomic context and gene dosage

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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On the roles of Saccharomyces cerevisiae Dna2p and Flap endonuclease 1 in Okazaki fragment processing

21 January 2018

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Chemotherapeutic deletion of CTG repeats in lymphoblast cells from DM1 patients

21 January 2018

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The "flap" endonuclease gene FEN1 is excluded as a candidate gene implicated in the CAG repeat expansion underlying Huntington disease

21 January 2018

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Stability of triplet repeats of myotonic dystrophy and fragile X loci in human mutator mismatch repair cell lines.

21 January 2018

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Neurodegeneration in Xeroderma Pigmentosum: a trinucleotide repeat mutation analysis

21 January 2018

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Trinucleotide expansion in haploid germ cells by gap repair

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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Efficient processing of DNA ends during yeast nonhomologous end joining. Evidence for a DNA polymerase beta (Pol4)-dependent pathway

21 January 2018

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An Msh2 point mutation uncouples DNA mismatch repair and apoptosis

21 January 2018

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hMutSalpha forms an ATP-dependent complex with hMutLalpha and hMutLbeta on DNA.

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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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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YB-1 promotes strand separation in vitro of duplex DNA containing either mispaired bases or cisplatin modifications, exhibits endonucleolytic activities and binds several DNA repair proteins

21 January 2018

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The mismatch DNA repair heterodimer, hMSH2/6, regulates BLM helicase

21 January 2018

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The Bloom's syndrome helicase promotes the annealing of complementary single-stranded DNA

21 January 2018

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RECQ1 helicase interacts with human mismatch repair factors that regulate genetic recombination

21 January 2018

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Biochemical analysis of the DNA unwinding and strand annealing activities catalyzed by human RECQ1.

21 January 2018

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Mismatch repair in Escherichia coli enhances instability of (CTG)n triplet repeats from human hereditary diseases

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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Long CTG Tracts from the Myotonic Dystrophy Gene Induce Deletions and Rearrangements during Recombination at the APRT Locus in CHO Cells

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

21 January 2018

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Mismatch repair and DNA damage signalling

21 January 2018

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Reduction in size of the myotonic dystrophy trinucleotide repeat mutation during transmission

21 January 2018

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Loss of mutation at the FMR1 locus through multiple exchanges between maternal X chromosomes

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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Increased instability of human CTG repeat tracts on yeast artificial chromosomes during gametogenesis

21 January 2018

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Triplet repeats form secondary structures that escape DNA repair in yeast

21 January 2018

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Alanine tracts: the expanding story of human illness and trinucleotide repeats

21 January 2018

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De novo facioscapulohumeral muscular dystrophy: frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10.

21 January 2018

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Molecular analysis of juvenile Huntington disease: the major influence on (CAG)n repeat length is the sex of the affected parent.

21 January 2018

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Progressive atrophy of cerebellum and brainstem as a function of age and the size of the expanded CAG repeats in the MJD1 gene in Machado-Joseph disease

21 January 2018

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Huntington's disease: a synaptopathy?

21 January 2018

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Generalized brain and skin proteasome inhibition in Huntington's disease

21 January 2018

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Centrosome disorganization in fibroblast cultures derived from R6/2 Huntington's disease (HD) transgenic mice and HD patients

21 January 2018

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Polyglutamine expansion down-regulates specific neuronal genes before pathologic changes in SCA1.

21 January 2018

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Genetically confirmed clinical Huntington's disease with no observable cell loss.

21 January 2018

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Transgenic mice with an expanded CAG repeat controlled by the human AR promoter show polyglutamine nuclear inclusions and neuronal dysfunction without neuronal cell death

21 January 2018

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Neuropathological diagnosis and CAG repeat expansion in Huntington's disease

21 January 2018

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The length and location of CAG trinucleotide repeats in the androgen receptor N-terminal domain affect transactivation function

21 January 2018

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Effect of the androgen receptor CAG repeat polymorphism on transcriptional activity: specificity in prostate and non-prostate cell lines

21 January 2018

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Alterations of androgen receptor in prostate cancer.

21 January 2018

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In situ shortening of CAG repeat length within the androgen receptor gene in prostatic cancer and its possible precursors

21 January 2018

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Analysis of full fragile X mutations in fetal tissues and monozygotic twins indicate that abnormal methylation and somatic heterogeneity are established early in development

21 January 2018

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Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses

21 January 2018

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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

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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Hypermutable myotonic dystrophy CTG repeats in transgenic mice

21 January 2018

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Progression of somatic CTG repeat length heterogeneity in the blood cells of myotonic dystrophy patients

21 January 2018

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Transition from premutation to full mutation in fragile X syndrome is likely to be prezygotic

21 January 2018

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Somatic instability of the myotonic dystrophy (CTG)n repeat during human fetal development

31 March 2020

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SCA8 CTG repeat: en masse contractions in sperm and intergenerational sequence changes may play a role in reduced penetrance

31 March 2020

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Spinal and bulbar muscular atrophy (SBMA): somatic stability of an expanded CAG repeat in fetal tissues

31 March 2020

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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

31 March 2020

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Analysis of the CTG repeat in skeletal muscle of young and adult myotonic dystrophy patients: when does the expansion occur?

31 March 2020

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A patient with myotonic dystrophy type 1 (DM 1) accompanied by laryngeal and renal cell carcinomas had a small CTG triplet repeat expansion but no somatic instability in normal tissues

31 March 2020

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CTG triplet repeat expansion in a laryngeal carcinoma from a patient with myotonic dystrophy

31 March 2020

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

31 March 2020

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Fully expanded FMR1 CGG repeats exhibit a length- and differentiation-dependent instability in cell hybrids that is independent of DNA methylation

31 March 2020

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Preferential nucleosome assembly at DNA triplet repeats from the myotonic dystrophy gene

31 March 2020

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Effect of CAT or AGG interruptions and CpG methylation on nucleosome assembly upon trinucleotide repeats on spinocerebellar ataxia, type 1 and fragile X syndrome

31 March 2020

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Trinucleotide repeats affect DNA replication in vivo

31 March 2020

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Expansion and length-dependent fragility of CTG repeats in yeast

31 March 2020

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Fidelity of primate cell repair of a double-strand break within a (CTG).(CAG) tract. Effect of slipped DNA structures

31 March 2020

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DNA double-strand breaks induce deletion of CTG.CAG repeats in an orientation-dependent manner in Escherichia coli

31 March 2020

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Inhibition of flap endonuclease 1 by flap secondary structure and relevance to repeat sequence expansion

31 March 2020

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Human MSH2 binds to trinucleotide repeat DNA structures associated with neurodegenerative diseases

31 March 2020

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Two opposing effects of mismatch repair on CTG repeat instability in Escherichia coli

31 March 2020

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Destabilization of CAG trinucleotide repeat tracts by mismatch repair mutations in yeast

31 March 2020

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Expansions of CAG repeat tracts are frequent in a yeast mutant defective in Okazaki fragment maturation

31 March 2020

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Involvement of the nucleotide excision repair protein UvrA in instability of CAG*CTG repeat sequences in Escherichia coli

31 March 2020

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Length of CTG·CAG repeats determines the influence of mismatch repair on genetic instability 1 1Edited by M. Yaniv

31 March 2020

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

31 March 2020

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Genetic instabilities in (CTG.CAG) repeats occur by recombination

31 March 2020

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Most meiotic CAG repeat tract-length alterations in yeast are SPO11 dependent

31 March 2020

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Allele diversity and germline mutation at the insulin minisatellite

31 March 2020

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Reduced transcriptional regulatory competence of the androgen receptor in X-linked spinal and bulbar muscular atrophy

31 March 2020

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DNA methylation and replication: implications for the "deletion hotspot" region of FMR1

31 March 2020

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31 March 2020

Identifiers

DOI

10.1038/NRG1689

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13 August 2017

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