MSH3 polymorphisms and protein levels affect CAG repeat instability in Huntington's disease mice (Q34611199)

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25 February 2020

title

MSH3 polymorphisms and protein levels affect CAG repeat instability in Huntington's disease mice (English)

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25 February 2020

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Elisabeth R. M. Tillier

8

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25 February 2020

Darren G Monckton

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25 February 2020

Christopher E Pearson

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Christopher E Pearson

11

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author name string

Stéphanie Tomé

1

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25 February 2020

Kevin Manley

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25 February 2020

Jodie P Simard

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25 February 2020

Greg W Clark

4

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25 February 2020

Meghan M Slean

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25 February 2020

Meera Swami

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25 February 2020

Peggy F Shelbourne

7

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25 February 2020

Anne Messer

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25 February 2020

publication date

28 February 2013

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25 February 2020

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25 February 2020

volume

9

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25 February 2020

issue

2

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25 February 2020

page(s)

e1003280

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Creative Commons Attribution 4.0 International

25 February 2020

copyright license

start time

28 February 2013

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April 2022 Public Data File from Crossref

copyright status

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cites work

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The nucleotide sequence, DNA damage location, and protein stoichiometry influence the base excision repair outcome at CAG/CTG repeats

7 July 2018

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7 July 2018

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CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion.

7 July 2018

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Genetic background modulates behavioral impairments in R6/2 mice and suggests a role for dominant genetic modifiers in Huntington’s disease pathogenesis

7 July 2018

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The mismatch repair system protects against intergenerational GAA repeat instability in a Friedreich ataxia mouse model

7 July 2018

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Age, CAG repeat length, and clinical progression in Huntington's disease

7 July 2018

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Onset and progression of behavioral and molecular phenotypes in a novel congenic R6/2 line exhibiting intergenerational CAG repeat stability

7 July 2018

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7 July 2018

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Xpa deficiency reduces CAG trinucleotide repeat instability in neuronal tissues in a mouse model of SCA1.

7 July 2018

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7 July 2018

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Cockayne syndrome B protein antagonizes OGG1 in modulating CAG repeat length in vivo

7 July 2018

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Maternal germline-specific effect of DNA ligase I on CTG/CAG instability.

7 July 2018

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The mouse mismatch repair protein, MSH3, is a nucleoplasmic protein that aggregates into denser nuclear bodies under conditions of stress.

7 July 2018

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DNA mismatch repair gene polymorphisms affect survival in pancreatic cancer

7 July 2018

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Continuous and periodic expansion of CAG repeats in Huntington's disease R6/1 mice

7 July 2018

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Friedreich's ataxia induced pluripotent stem cells model intergenerational GAA⋅TTC triplet repeat instability

7 July 2018

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Isolated short CTG/CAG DNA slip-outs are repaired efficiently by hMutSbeta, but clustered slip-outs are poorly repaired

7 July 2018

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Repeat instability as the basis for human diseases and as a potential target for therapy

7 July 2018

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Functional analysis of human mismatch repair gene mutations identifies weak alleles and polymorphisms capable of polygenic interactions

7 July 2018

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Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis

7 July 2018

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Stoichiometry of base excision repair proteins correlates with increased somatic CAG instability in striatum over cerebellum in Huntington's disease transgenic mice

7 July 2018

1 reference

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Association of common variants in mismatch repair genes and breast cancer susceptibility: a multigene study.

7 July 2018

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CTG/CAG repeat instability is modulated by the levels of human DNA ligase I and its interaction with proliferating cell nuclear antigen: a distinction between replication and slipped-DNA repair

7 July 2018

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Increasing protein stability by improving beta-turns

7 July 2018

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Improved prediction of protein side-chain conformations with SCWRL4

7 July 2018

1 reference

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Species-specific differences in translational regulation of dihydrofolate reductase

7 July 2018

1 reference

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Evaluating beta-turn mimics as beta-sheet folding nucleators

7 July 2018

1 reference

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Somatic expansion of the Huntington's disease CAG repeat in the brain is associated with an earlier age of disease onset

7 July 2018

1 reference

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MSH2 ATPase domain mutation affects CTG*CAG repeat instability in transgenic mice

7 July 2018

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CAG expansion in the Huntington disease gene is associated with a specific and targetable predisposing haplogroup

7 July 2018

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Distinct nucleotide binding/hydrolysis properties and molar ratio of MutSalpha and MutSbeta determine their differential mismatch binding activities

7 July 2018

1 reference

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Type A microsatellite instability in pediatric gliomas as an indicator of Turcot syndrome

7 July 2018

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CTCF cis-regulates trinucleotide repeat instability in an epigenetic manner: a novel basis for mutational hot spot determination

7 July 2018

1 reference

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Intergenerational and striatal CAG repeat instability in Huntington's disease knock-in mice involve different DNA repair genes

7 July 2018

1 reference

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Genetic Instability Caused by Loss of MutS Homologue 3 in Human Colorectal Cancer

7 July 2018

1 reference

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Chromosome fragility at GAA tracts in yeast depends on repeat orientation and requires mismatch repair

7 July 2018

1 reference

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Mutagenic roles of DNA "repair" proteins in antibody diversity and disease-associated trinucleotide repeat instability

7 July 2018

1 reference

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Roles of beta-turns in protein folding: from peptide models to protein engineering

7 July 2018

1 reference

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Saccharomyces cerevisiae Msh2-Msh3 acts in repair of base-base mispairs

7 July 2018

1 reference

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Polymorphism discovery in 62 DNA repair genes and haplotype associations with risks for lung and head and neck cancers

7 July 2018

1 reference

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OGG1 initiates age-dependent CAG trinucleotide expansion in somatic cells

7 July 2018

1 reference

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Triplet repeat mutation length gains correlate with cell-type specific vulnerability in Huntington disease brain

7 July 2018

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The effects of MSH2 deficiency on spontaneous and radiation-induced mutation rates in the mouse germline

7 July 2018

1 reference

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Amino acid contribution to protein solubility: Asp, Glu, and Ser contribute more favorably than the other hydrophilic amino acids in RNase Sa.

7 July 2018

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The multifaceted mismatch-repair system

7 July 2018

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Transcription promotes contraction of CAG repeat tracts in human cells

7 July 2018

1 reference

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Repeat instability: mechanisms of dynamic mutations

7 July 2018

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Two modes of microsatellite instability in human cancer: differential connection of defective DNA mismatch repair to dinucleotide repeat instability.

7 July 2018

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Analysis of CTG repeats using DM1 model mice

7 July 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

7 July 2018

1 reference

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Measuring the refolding of beta-sheets with different turn sequences on a nanosecond time scale

7 July 2018

1 reference

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Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset

7 July 2018

1 reference

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The Jalview Java alignment editor

7 July 2018

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585117

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

7 July 2018

1 reference

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

7 July 2018

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A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study.

7 July 2018

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

7 July 2018

1 reference

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

7 July 2018

1 reference

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MAFFT: a novel method for rapid multiple sequence alignment based on fast Fourier transform

7 July 2018

1 reference

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Structural basis for control by phosphorylation

7 July 2018

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

7 July 2018

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Stepwise deletions of polyA sequences in mismatch repair-deficient colorectal cancers

7 July 2018

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The crystal structure of DNA mismatch repair protein MutS binding to a G x T mismatch

7 July 2018

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Complementation of an hMSH2 defect in human colorectal carcinoma cells by human chromosome 2 transfer

7 July 2018

1 reference

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Role of amino acid residues at turns in the conformational stability and folding of human lysozyme

7 July 2018

1 reference

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

7 July 2018

1 reference

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A Huntington's disease CAG expansion at the murine Hdh locus is unstable and associated with behavioural abnormalities in mice

7 July 2018

1 reference

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Repair of large insertion/deletion heterologies in human nuclear extracts is directed by a 5' single-strand break and is independent of the mismatch repair system

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585117

Length-dependent gametic CAG repeat instability in the Huntington's disease knock-in mouse

7 July 2018

1 reference

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Isolation of MutSbeta from human cells and comparison of the mismatch repair specificities of MutSbeta and MutSalpha

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585117

Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice

7 July 2018

1 reference

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Genomic organization and expression of the human MSH3 gene

7 July 2018

1 reference

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PROMOTIF--a program to identify and analyze structural motifs in proteins

7 July 2018

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Sequence replacements in the central beta-turn of plastocyanin

7 July 2018

1 reference

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Somatic mosaicism of expanded CAG repeats in brains of patients with dentatorubral-pallidoluysian atrophy: cellular population-dependent dynamics of mitotic instability

7 July 2018

1 reference

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Microsatellite instability in cancer of the proximal colon

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585117

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585117

A revised set of potentials for beta-turn formation in proteins

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585117

Dictionary of protein secondary structure: pattern recognition of hydrogen-bonded and geometrical features

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585117

Analysis of the mouse dhfr promoter region: existence of a divergently transcribed gene

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585117

Dual bidirectional promoters at the mouse dhfr locus: cloning and characterization of two mRNA classes of the divergently transcribed Rep-1 gene

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585117

Basic local alignment search tool

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585117

Somatic expansion of the (CAG)n repeat in Huntington disease brains

7 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003280

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003280

Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severity

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003280

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003280

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003280

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

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003280

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003280

Msh3 is a limiting factor in the formation of intergenerational CTG expansions in DM1 transgenic mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003280

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003280

Huntington's and myotonic dystrophy hESCs: down-regulated trinucleotide repeat instability and mismatch repair machinery expression upon differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003280

Steady-state regulation of the human DNA mismatch repair system.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003280

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003280

Tissue- and age-specific DNA replication patterns at the CTG/CAG-expanded human myotonic dystrophy type 1 locus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003280

Genetic background modifies nuclear mutant huntingtin accumulation and HD CAG repeat instability in Huntington's disease knock-in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003280

Intergenerational instability in Huntington disease: extreme repeat changes among 134 transmissions

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003280

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003280

Progressive CAG expansion in the brain of a novel R6/1-89Q mouse model of Huntington's disease with delayed phenotypic onset.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003280

Critical role of beta-hairpin formation in protein G folding.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003280

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003280

The hOGG1 Ser326Cys polymorphism and Huntington's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003280

Age at onset in Huntington's disease: replication study on the associations of ADORA2A, HAP1 and OGG1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003280

Association between genetic polymorphisms in the XRCC1, XRCC3, XPD, GSTM1, GSTT1, MSH2, MLH1, MSH3, and MGMT genes and radiosensitivity in breast cancer patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003280

Idiographica: a general-purpose web application to build idiograms on-demand for human, mouse and rat.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003280

The nucleic acid database

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585117

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585117

Hypermutable myotonic dystrophy CTG repeats in transgenic mice

26 October 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003280

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003280

Stereochemical criteria for polypeptides and proteins. VI. Non-bonded energy of polyglycine and poly-L-alanine in the crystalline beta-form

21 January 2018

1 reference

12 December 2020

A study of the origin of 'shadow bands' seen when typing dinucleotide repeat polymorphisms by the PCR

1 reference

12 December 2020

Analysis of Unstable Triplet Repeats Using Small-Pool Polymerase Chain Reaction

1 reference

12 December 2020

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

1 reference

12 December 2020

Tissue-specific mismatch repair protein expression: MSH3 is higher than MSH6 in multiple mouse tissues

1 reference

12 December 2020

Informativeness of human (dC-dA)n.(dG-dT)n polymorphisms

1 reference

12 December 2020

Steady-state regulation of the human DNA mismatch repair system

1 reference

12 December 2020

10.1371/JOURNAL.PGEN.1003280

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23468640%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23468640%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23468640%20AND%20SRC:MED&resulttype=core&format=json