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The contribution of cis-elements to disease-associated repeat instability: clinical and experimental evidence.
- Published in:
- Cytogenetic & Genome Research, 2003, v. 100, n. 1-4, p. 25, doi. 10.1159/000072837
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- Article
Stability of Mosaic Divergent Repeat Interruptions in X‐Linked Dystonia‐Parkinsonism.
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- Movement Disorders, 2024, v. 39, n. 7, p. 1145, doi. 10.1002/mds.29809
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- Article
Massive CAG Repeat Expansion and Somatic Instability in Maternally Transmitted Infantile Spinocerebellar Ataxia Type 7.
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- JAMA Neurology, 2015, v. 72, n. 2, p. 219, doi. 10.1001/jamaneurol.2014.1902
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- Article
CtIP-BRCA1 complex and MRE11 maintain replication forks in the presence of chain terminating nucleoside analogs.
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- Nucleic Acids Research, 2019, v. 47, n. 6, p. 2966, doi. 10.1093/nar/gkz009
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- Article
Quadruplex formation by both G-rich and C-rich DNA strands of the C9orf72(GGGGCC)8•(GGCCCC)8 repeat: effect of CpG methylation.
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- Nucleic Acids Research, 2015, v. 43, n. 20, p. 10055, doi. 10.1093/nar/gkv1008
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- Article
Processing of double-R-loops in (CAG)·(CTG) and C9orf72 (GGGGCC)·(GGCCCC) repeats causes instability.
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- Nucleic Acids Research, 2014, v. 42, n. 16, p. 10473, doi. 10.1093/nar/gku658
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- Article
Authority figures: sculpture in Le Corbusier's projects for public buildings, 1928–1938.
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- Sculpture Journal, 2005, v. 13, n. 1, p. 48, doi. 10.3828/sj.13.1.4
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- Article
Inverted repeats, stem-loops, and cruciforms: Significance for initiation of DNA replication.
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- Journal of Cellular Biochemistry, 1996, v. 63, n. 1, p. 1, doi. 10.1002/(SICI)1097-4644(199610)63:1<1::AID-JCB1>3.0.CO;2-3
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- Article
Cofractionation of hela cell replication proteins with Ors-binding activity.
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- Journal of Cellular Biochemistry, 1995, v. 58, n. 2, p. 221, doi. 10.1002/jcb.240580211
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- Article
Deletion analysis of minimal sequence requirements for autonomous replication of ors8, a monkey early-replicating DNA sequence.
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- Journal of Cellular Biochemistry, 1995, v. 57, n. 2, p. 280, doi. 10.1002/jcb.240570212
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- Article
De novo mutations, genetic mosaicism and human disease.
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- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.983668
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- Article
Fragile sites, chromosomal lesions, tandem repeats, and disease.
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- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.985975
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- Article
Detection of Slipped-DNAs at the Trinucleotide Repeats of the Myotonic Dystrophy Type I Disease Locus in Patient Tissues.
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- PLoS Genetics, 2013, v. 9, n. 12, p. 1, doi. 10.1371/journal.pgen.1003866
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- Article
Mismatch Repair Genes <i>Mlh1</i> and <i>Mlh3</i> Modify CAG Instability in Huntington's Disease Mice: Genome-Wide and Candidate Approaches.
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- PLoS Genetics, 2013, v. 9, n. 10, p. 1, doi. 10.1371/journal.pgen.1003930
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- Article
MSH3 Polymorphisms and Protein Levels Affect CAG Repeat Instability in Huntington's Disease Mice.
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- PLoS Genetics, 2013, v. 9, n. 2, p. 1, doi. 10.1371/journal.pgen.1003280
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- Article
Repeat instability as the basis for human diseases and as a potential target for therapy.
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- Nature Reviews Molecular Cell Biology, 2010, v. 11, n. 3, p. 165, doi. 10.1038/nrm2854
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- Article
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.
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- Human Molecular Genetics, 2014, v. 23, n. 6, p. 1606, doi. 10.1093/hmg/ddt551
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- Article
Maternal germline-specific effect of DNA ligase I on CTG/CAG instability.
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- Human Molecular Genetics, 2011, v. 20, n. 11, p. 2131, doi. 10.1093/hmg/ddr099
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- Article
Bidirectional transcription stimulates expansion and contraction of expanded (CTG)•(CAG) repeats.
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- Human Molecular Genetics, 2011, v. 20, n. 3, p. 580, doi. 10.1093/hmg/ddq501
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- Article
Expanded CTG repeat demarcates a boundary for abnormal CpG methylation in myotonic dystrophy patient tissues.
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- Human Molecular Genetics, 2011, v. 20, n. 1, p. 1, doi. 10.1093/hmg/ddq427
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- Article
Huntington's and myotonic dystrophy hESCs: down-regulated trinucleotide repeat instability and mismatch repair machinery expression upon differentiation.
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- Human Molecular Genetics, 2011, v. 20, n. 1, p. 176, doi. 10.1093/hmg/ddq456
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- Article
Co-opting endogenous microRNAs for therapy.
- Published in:
- Nature Medicine, 2012, v. 18, n. 7, p. 1011, doi. 10.1038/nm.2864
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- Article
Evidence of cis-acting factors in replication-mediated trinucleotide repeat instability in primate cells.
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- Nature Genetics, 2002, v. 31, n. 1, p. 37, doi. 10.1038/ng870
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- Article
Diced Triplets Expose Neurons to RISC.
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- 2012
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- Publication type:
- Opinion
Repeat Associated Non-ATG Translation Initiation: One DNA, Two Transcripts, Seven Reading Frames, Potentially Nine Toxic Entities!
- Published in:
- PLoS Genetics, 2011, v. 7, n. 3, p. 1, doi. 10.1371/journal.pgen.1002018
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- Article
MSH2 ATPase Domain Mutation Affects CTG·CAG Repeat Instability in Transgenic Mice.
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- PLoS Genetics, 2009, v. 5, n. 5, p. 1
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- Article
CTCF cis-Regulates Trinucleotide Repeat Instability in an Epigenetic Manner: A Novel Basis for Mutational Hot Spot Determination.
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- PLoS Genetics, 2008, v. 4, n. 11, p. 1, doi. 10.1371/journal.pgen.1000257
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- Article
An Infant with MLH3 Variants, FOXG1-Duplication and Multiple, Benign Cranial and Spinal Tumors: A Clinical Exome Sequencing Study.
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- Genes, Chromosomes & Cancer, 2016, v. 55, n. 2, p. 131, doi. 10.1002/gcc.22319
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- Article
Genomic context drives SCA7 CAG repeat instability, while expressed SCA7 cDNAs are intergenerationally and somatically stable in transgenic mice.
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- Human Molecular Genetics, 2003, v. 12, n. 1, p. 41, doi. 10.1093/hmg/ddg006
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- Article
Human MSH2 Binds to Trinucleotide Repeat DNA Structures Associated with Neurodegenerative Diseases.
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- Human Molecular Genetics, 1997, v. 6, n. 7, p. 1117, doi. 10.1093/hmg/6.7.1117
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- Article
Mosaic divergent repeat interruptions in XDP influence repeat stability and disease onset.
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- Brain: A Journal of Neurology, 2023, v. 146, n. 3, p. 1075, doi. 10.1093/brain/awac160
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- Article
Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers.
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- Nature Genetics, 2015, v. 47, n. 3, p. 257, doi. 10.1038/ng.3202
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- Article
Deletion hotspot in the argininosuccinate lyase gene: association with topoisomerase II and DNA polymerase α sites.
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- Human Mutation, 2006, v. 27, n. 11, p. 1065, doi. 10.1002/humu.20352
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- Article
Slipped (CTG)•(CAG) repeats can be correctly repaired, escape repair or undergo error-prone repair.
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- Nature Structural & Molecular Biology, 2005, v. 12, n. 8, p. 654, doi. 10.1038/nsmb959
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- Article
Genome sequencing identifies rare tandem repeat expansions and copy number variants in Lennox-Gastaut syndrome.
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- Brain Communications, 2021, v. 3, n. 3, p. 1, doi. 10.1093/braincomms/fcab207
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- Article
Determinants of R-loop formation at convergent bidirectionally transcribed trinucleotide repeats.
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- Nucleic Acids Research, 2011, v. 39, n. 5, p. 1749, doi. 10.1093/nar/gkq935
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- Article
Slipped‐strand DNAs formed by long (CAG)·(CTG) repeats: slipped‐out repeats and slip‐out junctions.
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- Nucleic Acids Research, 2002, v. 30, n. 20, p. 4534, doi. 10.1093/nar/gkf572
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- Article
ATRX proximal protein associations boast roles beyond histone deposition.
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- PLoS Genetics, 2021, v. 17, n. 11, p. 1, doi. 10.1371/journal.pgen.1009909
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- Article
Tissue- and age-specific DNA replication patterns at the CTG/CAG-expanded human myotonic dystrophy type 1 locus.
- Published in:
- Nature Structural & Molecular Biology, 2010, v. 17, n. 9, p. 1079, doi. 10.1038/nsmb.1876
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- Article
Repeat instability: mechanisms of dynamic mutations.
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- Nature Reviews Genetics, 2005, v. 6, n. 10, p. 729, doi. 10.1038/nrg1689
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- Article
Structural analysis of slipped‐strand DNA (S‐DNA) formed in (CTG)n·(CAG)n repeats from the myotonic dystrophy locus.
- Published in:
- Nucleic Acids Research, 1998, v. 26, n. 3, p. 816, doi. 10.1093/nar/26.3.816
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- Article