(Q35207236)

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Modifiers of (CAG)(n) instability in Machado-Joseph disease (MJD/SCA3) transmissions: an association study with DNA replication, repair and recombination genes

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scholarly article

1 reference

Europe PubMed Central

7 August 2017

Modifiers of (CAG)(n) instability in Machado-Joseph disease (MJD/SCA3) transmissions: an association study with DNA replication, repair and recombination genes (English)

1 reference

Europe PubMed Central

7 August 2017

Machado-Joseph disease

1 reference

based on heuristic

inferred from title

António Amorim

5

1 reference

Europe PubMed Central

7 August 2017

Marie-Pierre Dubé

6

1 reference

Europe PubMed Central

7 August 2017

8

object named as

Guy A Rouleau

0 references

object named as

Sandra Martins

1

0 references

Jorge Sequeiros

object named as

Jorge Sequeiros

7

0 references

4

object named as

Sylvie Provost

1 reference

Europe PubMed Central

7 August 2017

author name string

Christopher E Pearson

2

1 reference

Europe PubMed Central

7 August 2017

Paula Coutinho

3

1 reference

Europe PubMed Central

7 August 2017

publication date

16 July 2014

1 reference

Europe PubMed Central

7 August 2017

1 reference

Europe PubMed Central

7 August 2017

133

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Europe PubMed Central

7 August 2017

10

1 reference

Europe PubMed Central

7 August 2017

1311-1318

1 reference

Europe PubMed Central

7 August 2017

https://scigraph.springernature.com/pub.10.1007/s00439-014-1467-8

0 references

Laryngeal cancer risk associated with smoking and alcohol consumption is modified by genetic polymorphisms in ERCC5, ERCC6 and RAD23B but not by polymorphisms in five other nucleotide excision repair genes.

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A genome-wide approach to comparative oncology: high-resolution oligonucleotide aCGH of canine and human osteosarcoma pinpoints shared microaberrations

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21 January 2018

Detection of slipped-DNAs at the trinucleotide repeats of the myotonic dystrophy type I disease locus in patient tissues.

1 reference

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21 January 2018

The ERCC6 gene and age-related macular degeneration

1 reference

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Genetic variation in nucleotide excision repair pathway genes, pesticide exposure and prostate cancer risk

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Replication protein A phosphorylation and the cellular response to DNA damage

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

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The Werner syndrome protein promotes CAG/CTG repeat stability by resolving large (CAG)(n)/(CTG)(n) hairpins

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A novel single nucleotide polymorphism in ERCC6 gene is associated with oral cancer susceptibility in Taiwanese patients

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TFIIH: when transcription met DNA repair.

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Autosomal dominant system degeneration in Portuguese families of the Azores Islands. A new genetic disorder involving cerebellar, pyramidal, extrapyramidal and spinal cord motor functions

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Cell cycle genes and ovarian cancer susceptibility: a tagSNP analysis

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DNA repair dysregulation from cancer driver to therapeutic target

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Likelihood-based association analysis for nuclear families and unrelated subjects with missing genotype data

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

1 reference

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21 January 2018

R-loop-mediated genomic instability is caused by impairment of replication fork progression

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A multiple testing correction method for genetic association studies using correlated single nucleotide polymorphisms

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Extrapolating the effect of deleterious nsSNPs in the binding adaptability of flavopiridol with CDK7 protein: a molecular dynamics approach

1 reference

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21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1467-8

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1467-8

21 January 2018

Combined genetic effect of CDK7 and ESR1 polymorphisms on breast cancer

1 reference

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21 January 2018

TP53 and RPA3 gene variations were associated with risk of glioma in a Chinese Han population

1 reference

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21 January 2018

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1467-8

21 January 2018

Trinucleotide expansion in haploid germ cells by gap repair

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1467-8

21 January 2018

Features of trinucleotide repeat instability in vivo

1 reference

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21 January 2018

OGG1 initiates age-dependent CAG trinucleotide expansion in somatic cells

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1467-8

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1467-8

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1467-8

21 January 2018

Proliferation failure and gamma radiation sensitivity of Fen1 null mutant mice at the blastocyst stage

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1467-8

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Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1467-8

21 January 2018

Polymorphisms of CAK genes and risk for lung cancer: a case-control study in Chinese population.

1 reference

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Transcription-induced CAG repeat contraction in human cells is mediated in part by transcription-coupled nucleotide excision repair

1 reference

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21 January 2018

A variant of the Cockayne syndrome B gene ERCC6 confers risk of lung cancer.

1 reference

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21 January 2018

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

1 reference

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21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1467-8

21 January 2018

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

1 reference

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21 January 2018

ERCC6/CSB gene polymorphisms and lung cancer risk

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1467-8

21 January 2018

Potentially functional polymorphisms in cell cycle genes and the survival of non-small cell lung cancer in a Chinese population.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1467-8

21 January 2018

Improvement in the molecular diagnosis of Machado-Joseph disease

1 reference

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21 January 2018

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

1 reference

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21 January 2018

Cis-acting factors promoting the CAG intergenerational instability in Machado-Joseph disease.

1 reference

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21 January 2018

Expression levels of DNA replication and repair genes predict regional somatic repeat instability in the brain but are not altered by polyglutamine disease protein expression or age.

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

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Huntingtin triplet-repeat locus is stable under long-term Fen1 knockdown in human cells

1 reference

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Characterization of reaction intermediates of human excision repair nuclease.

1 reference

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21 January 2018

Bidirectional transcription stimulates expansion and contraction of expanded (CTG)*(CAG) repeats.

1 reference

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21 January 2018

Replication protein A: directing traffic at the intersection of replication and repair

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1467-8

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1467-8

21 January 2018

Slipping while sleeping? Trinucleotide repeat expansions in germ cells

1 reference

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21 January 2018

Repeat instability: mechanisms of dynamic mutations

1 reference

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Mismatch repair genes Mlh1 and Mlh3 modify CAG instability in Huntington's disease mice: genome-wide and candidate approaches

1 reference

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Dynamic mutations: a new class of mutations causing human disease

1 reference

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21 January 2018

Role of DNA polymerases in repeat-mediated genome instability

1 reference

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Motor uncoordination and neuropathology in a transgenic mouse model of Machado-Joseph disease lacking intranuclear inclusions and ataxin-3 cleavage products.

1 reference

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21 January 2018

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

1 reference

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21 January 2018

Synergic effect of polymorphisms in ERCC6 5' flanking region and complement factor H on age-related macular degeneration predisposition

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1467-8

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1467-8

21 January 2018

Replication protein A: a heterotrimeric, single-stranded DNA-binding protein required for eukaryotic DNA metabolism

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1467-8

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

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1467-8

21 January 2018

Molecular features of the CAG repeats and clinical manifestation of Machado--Joseph disease

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1467-8

21 January 2018

Age at onset variance analysis in spinocerebellar ataxias: A study in a Dutch-French cohort

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1467-8

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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

1 reference

https://pubmed.ncbi.nlm.nih.gov/25026993

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Differential pattern in tissue-specific somatic mosaicism of expanded CAG trinucleotide repeats in dentatorubral-pallidoluysian atrophy, Machado-Joseph disease, and X-linked recessive spinal and bulbar muscular atrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/25026993

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Recombination of 4p16 DNA markers in an unusual family with Huntington disease.

1 reference

https://pubmed.ncbi.nlm.nih.gov/25026993

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Significant association of ERCC6 single nucleotide polymorphisms with bladder cancer susceptibility in Taiwan

1 reference

https://pubmed.ncbi.nlm.nih.gov/25026993

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Founder haplotype for Machado-Joseph disease in the Indian population: novel insights from history and polymorphism studies

1 reference

https://pubmed.ncbi.nlm.nih.gov/25026993

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dominant ataxias.

1 reference

https://pubmed.ncbi.nlm.nih.gov/25026993

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Somatic mosaicism of the CAG repeat expansion in spinocerebellar ataxia type 3/Machado-Joseph disease.

1 reference

https://pubmed.ncbi.nlm.nih.gov/25026993

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Somatic mosaicism of expanded CAG trinucleotide repeat in the neural and nonneural tissues of Machado-Joseph disease (MJD)]

1 reference

https://pubmed.ncbi.nlm.nih.gov/25026993

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Homozygosity enhances severity in spinocerebellar ataxia type 3

1 reference

https://pubmed.ncbi.nlm.nih.gov/25026993

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Correlation between CAG repeat length and clinical features in Machado-Joseph disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/25026993

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Frequency analysis of autosomal dominant spinocerebellar ataxias in Han population in the Chinese mainland and clinical and molecular characterization of spinocerebellar ataxia type 6]

1 reference

https://pubmed.ncbi.nlm.nih.gov/25026993

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00439-014-1467-8

1 reference

Europe PubMed Central

7 August 2017

1 reference

Europe PubMed Central

7 August 2017

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