388 results on '"Pearson, Christopher E"'
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2. Mechanisms of somatic CAG-repeat expansions in Huntington's disease
3. Contributors
4. Genome-wide enhancer-associated tandem repeats are expanded in cardiomyopathy
5. Antagonistic roles of canonical and Alternative-RPA in disease-associated tandem CAG repeat instability
6. Genome-wide tandem repeat expansions contribute to schizophrenia risk
7. Pathogenic CANVAS-causing but not non-pathogenic RFC1 DNA/RNA repeat motifs form quadruplex or triplex structures
8. Stability of Mosaic Divergent Repeat Interruptions in X‐Linked Dystonia‐Parkinsonism
9. Interrupting sequence variants and age of onset in Huntington's disease: clinical implications and emerging therapies
10. Genome-wide detection of tandem DNA repeats that are expanded in autism
11. Cell Type Specific CAG Repeat Expansions and Toxicity of Mutant Huntingtin in Human Striatum and Cerebellum
12. Fragile sites, chromosomal lesions, tandem repeats, and disease
13. Antagonistic roles of canonical and alternative RPA in tandem CAG repeat diseases
14. De novo mutations, genetic mosaicism and human disease
15. De Novo, Post-Zygotic, Inter-Tissue Mosaicism of Cell Autonomous ADNP Mutations in Autistic Individuals: Restricted Environmental Contribution
16. Illuminating CNS and cognitive issues in myotonic dystrophy: Workshop report
17. Mosaic divergent repeat interruptions in XDP influence repeat stability and disease onset.
18. Mosaic divergent repeat interruptions in XDP influence repeat stability and disease onset
19. Isolated short CTG/CAG DNA slip-outs are repaired efficiently by hMutSβ, but clustered slip-outs are poorly repaired
20. CAG repeat-binding small molecule improves motor coordination impairment in a mouse model of Dentatorubral–pallidoluysian atrophy
21. Advancing genomic technologies and clinical awareness accelerates discovery of disease-associated tandem repeat sequences
22. Genome-wide tandem repeat expansions contribute to schizophrenia risk
23. FAN1 exo- not endo-nuclease pausing on disease-associated slipped-DNA repeats: A mechanism of repeat instability
24. Modifiers of (CAG)n instability in Machado–Joseph disease (MJD/SCA3) transmissions: an association study with DNA replication, repair and recombination genes
25. ATRX proximal protein associations boast roles beyond histone deposition
26. Massive CAG Repeat Expansion and Somatic Instability in Maternally Transmitted Infantile Spinocerebellar Ataxia Type 7
27. Processing of double-R-loops in (CAG)·(CTG) and C9orf72 (GGGGCC)·(GGCCCC) repeats causes instability
28. FAN1-MLH1 interaction affects repair of DNA interstrand cross-links and slipped-CAG/CTG repeats
29. FAN1-MLH1 interaction affects repair of DNA interstrand cross-links and slipped-CAG/CTG repeats
30. FAN1, a DNA Repair Nuclease, as a Modifier of Repeat Expansion Disorders
31. 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
32. FAN1 nuclease processes and pauses on disease-associated slipped-DNA repeats: Mechanism against repeat expansions
33. Interruptions in the expanded ATTCT repeat of spinocerebellar ataxia type 10: repeat purity as a disease modifier?
34. FAN1, a DNA Repair Nuclease, as a Modifier of Repeat Expansion Disorders
35. Special Issue: DNA Repair and Somatic Repeat Expansion in Huntington’s Disease
36. Genome sequencing identifies rare tandem repeat expansions and copy number variants in Lennox–Gastaut syndrome
37. Role of replication and CpG methylation in fragile X syndrome CGG deletions in primate cells
38. Triplet repeat DNA structures and human genetic disease: dynamic mutations from dynamic DNA
39. Repetition, Exclusion, and the Urbanism of Nostalgia
40. Replication inhibitors modulate instability of an expanded trinucleotide repeat at the myotonic dystrophy type 1 disease locus in human cells
41. Replacement of the myotonic dystrophy type 1 CTG repeat with ‘non-CTG repeat’ insertions in specific tissues
42. Maternal germline-specific effect of DNA ligase I on CTG/CAG instability
43. Determinants of R-loop formation at convergent bidirectionally transcribed trinucleotide repeats
44. Bidirectional transcription stimulates expansion and contraction of expanded (CTG)•(CAG) repeats
45. Huntingtonʼs and myotonic dystrophy hESCs: down-regulated trinucleotide repeat instability and mismatch repair machinery expression upon differentiation
46. Expanded CTG repeat demarcates a boundary for abnormal CpG methylation in myotonic dystrophy patient tissues
47. A slipped-CAG DNA-binding small molecule induces trinucleotide-repeat contractions in vivo
48. Molecular genetics of congenital myotonic dystrophy
49. Contributors
50. Error-Prone Repair of Slipped (CTG)·(CAG) Repeats and Disease-Associated Expansions
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