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The crystal structure of human RecQ4, encompassing the conserved ATPase core and a novel C-terminal domain that lacks resemblance to the RQC domain observed in other RecQ helicases.
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Data suggest that RECQL4 DNA helicase (RECQL4) modulates the pathway choice of DNA end-joining repair and homologous recombination DNA repair in a cell cycle-dependent manner.
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analysis of RECQL4 variants in Chinese patients with Rothmund-Thomson syndrome
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RECQL4 is an important participant in homologous recombination (HR)-dependent DNA double-strand break repair.
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These results solidify Hrq1 as a true RecQ4 homolog and position it as the premier model to determine how RecQ4 mutations lead to genomic instability and disease.
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High RECQL4 expression is associated with Cisplatin Resistance in Gastric Cancer.
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Mutations in RECQL4 are responsible for the majority of cases of Rothmund-Thomson syndrome . RECQL4 is important not only in Cancer development but also in the aging process.
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High RecQL4 expression is associated with osteosarcoma.
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this study demonstrates for the first time that, owing to its mitochondrial functions, the accessory mitochondrial replication helicase RECQL4 prevents the invasive step in the neoplastic transformation process.
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These results reveal novel possible roles of RecQ4 in DNA replication and genome stability.
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RECQL4 is tumour promoting in established breast cancers
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RecQL4-dependent association of Mcm10 and Ctf4 with replication origins appears to be the first important step controlled by S phase promoting kinases and checkpoint pathways for the initiation of DNA replication in human cells.
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No RECQL4 mutations were found in the BGS group without poikiloderma, confirming that RECQL4 sequencing was not indicated in this phenotype.
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This finding provided the key to unravel the correlation between the RECQL4 genotype and the mild phenotype of the two siblings of Rothmund-Thomson Syndrome.
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The N-terminus of human RecQL4 acts as a complex moderator of DNA transactions that are mediated by multiple DNA-binding sites.
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RECQL4 stimulates higher order DNA binding of Ku70/Ku80 to a blunt end DNA substrate. Taken together, these results implicate that RECQL4 participates in the NHEJ pathway of DSB repair via a functional interaction with the Ku70/Ku80 complex.
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The highly cancer-prone RECQ4 ID mutant failed to interact with p32, leading to increases in mtDNA copy number and MT dysfunction.
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Dysfunction of RECQL4 increases DNA damage and triggers premature senescence in both human and mouse cells, which may contribute to symptoms in Rothmund-Thompson syndrome patients.
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Elevated expression of RECQL4 accompanies progression of the Rothmund-Thomson Syndrome into osteosarcoma in humans and mice.
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Molecular analyses show the presence of a novel truncating mutation and of a known missense mutation, p.R1021W, located outside of the helicase domain, which has been found in several patients either in a compound heterozygous state or alone.
