Repeat instability as the basis for human diseases and as a potential target for therapy.
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Out of balance: R-loops in human diseasePCNA function in the activation and strand direction of MutLα endonuclease in mismatch repairMechanism of mismatch recognition revealed by human MutSβ bound to unpaired DNA loopsNew insights into repeat instability: role of RNA•DNA hybridsMicrosatellites in Pursuit of Microbial Genome EvolutionRAN translation and frameshifting as translational challenges at simple repeats of human neurodegenerative disordersInvolvement of long noncoding RNAs in diseases affecting the central nervous systemDNA triplet repeat expansion and mismatch repairThe balancing act of DNA repeat expansionsCurrent understanding of the role of microRNAs in spinocerebellar ataxiasSuppression of Somatic Expansion Delays the Onset of Pathophysiology in a Mouse Model of Huntington’s DiseaseModeling diseases of noncoding unstable repeat expansions using mutant pluripotent stem cells.The 26S proteasome drives trinucleotide repeat expansionsNew insights into the mechanism of DNA mismatch repairDNA replication fidelity and cancerInstability of CTG repeats is governed by the position of a DNA base lesion through base excision repairPms2 suppresses large expansions of the (GAA·TTC)n sequence in neuronal tissuesA regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARXMicrosatellite interruptions stabilize primate genomes and exist as population-specific single nucleotide polymorphisms within individual human genomesTandem amino acid repeats in the green anole (Anolis carolinensis) and other squamates may have a role in increasing genetic variabilityUnusual structures are present in DNA fragments containing super-long Huntingtin CAG repeatsMutSβ promotes trinucleotide repeat expansion by recruiting DNA polymerase β to nascent (CAG)n or (CTG)n hairpins for error-prone DNA synthesisDNA Replication Dynamics of the GGGGCC Repeat of the C9orf72 Gene.Processing of double-R-loops in (CAG)·(CTG) and C9orf72 (GGGGCC)·(GGCCCC) repeats causes instability.Therapeutics development in myotonic dystrophy type 1.Trinucleotide repeats: a structural perspectiveIsolated short CTG/CAG DNA slip-outs are repaired efficiently by hMutSbeta, but clustered slip-outs are poorly repaired.Accurate human microsatellite genotypes from high-throughput resequencing data using informed error profiles.Neurons and cardiomyocytes derived from induced pluripotent stem cells as a model for mitochondrial defects in Friedreich's ataxia.Myotonic dystrophy type 1 patient-derived iPSCs for the investigation of CTG repeat instability.Accurate typing of short tandem repeats from genome-wide sequencing data and its applications.Polycomb repressive complex 1 provides a molecular explanation for repeat copy number dependency in FSHD muscular dystrophy.Convergent transcription through a long CAG tract destabilizes repeats and induces apoptosisDigital genotyping of macrosatellites and multicopy genes reveals novel biological functions associated with copy number variation of large tandem repeats.MutLα heterodimers modify the molecular phenotype of Friedreich ataxia.Repeat associated non-ATG translation initiation: one DNA, two transcripts, seven reading frames, potentially nine toxic entities!Splicing biomarkers of disease severity in myotonic dystrophyDNA dynamics is likely to be a factor in the genomic nucleotide repeats expansions related to diseases.Topoisomerase 1 and single-strand break repair modulate transcription-induced CAG repeat contraction in human cells.Heterochromatin controls γH2A localization in Neurospora crassa.
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Repeat instability as the basis for human diseases and as a potential target for therapy.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on March 2010
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Repeat instability as the basis for human diseases and as a potential target for therapy.
@en
Repeat instability as the basis for human diseases and as a potential target for therapy.
@nl
type
label
Repeat instability as the basis for human diseases and as a potential target for therapy.
@en
Repeat instability as the basis for human diseases and as a potential target for therapy.
@nl
prefLabel
Repeat instability as the basis for human diseases and as a potential target for therapy.
@en
Repeat instability as the basis for human diseases and as a potential target for therapy.
@nl
P2093
P356
P1476
Repeat instability as the basis for human diseases and as a potential target for therapy.
@en
P2093
Arturo López Castel
Christopher E Pearson
John D Cleary
P2888
P304
P356
10.1038/NRM2854
P577
2010-03-01T00:00:00Z