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Implications of TP53 allelic state for genome stability, clinical presentation and outcomes in myelodysplastic syndromes

open access: greenNature Medicine, 2020
Tumor protein p53 (TP53) is the most frequently mutated gene in cancer1,2. In patients with myelodysplastic syndromes (MDS), TP53 mutations are associated with high-risk disease3,4, rapid transformation to acute myeloid leukemia (AML)5, resistance to ...
Elsa Bernard   +79 more
openalex   +3 more sources

TIF1 Proteins in Genome Stability and Cancer [PDF]

open access: goldCancers, 2020
Genomic instability is a hallmark of cancer cells which results in excessive DNA damage. To counteract this, cells have evolved a tightly regulated DNA damage response (DDR) to rapidly sense DNA damage and promote its repair whilst halting cell cycle ...
Roisin McAvera, Lisa Crawford
openalex   +2 more sources

Resveratrol and its Related Polyphenols Contribute to the Maintenance of Genome Stability [PDF]

open access: goldScientific Reports, 2020
Genomic destabilisation is associated with the induction of mutations, including those in cancer-driver genes, and subsequent clonal evolution of cells with abrogated defence systems.
Yusuke Matsuno   +14 more
openalex   +2 more sources

RIF1 promotes replication fork protection and efficient restart to maintain genome stability [PDF]

open access: goldNature Communications, 2019
Homologous recombination (HR) and Fanconi Anemia (FA) pathway proteins in addition to their DNA repair functions, limit nuclease-mediated processing of stalled replication forks.
Chirantani Mukherjee   +9 more
openalex   +2 more sources

Human topoisomerases and their roles in genome stability and organization

open access: yesNature reviews. Molecular cell biology, 2022
Human topoisomerases comprise a family of six enzymes: two type IB (TOP1 and mitochondrial TOP1 (TOP1MT), two type IIA (TOP2A and TOP2B) and two type IA (TOP3A and TOP3B) topoisomerases.
Y. Pommier   +3 more
semanticscholar   +1 more source

R-loop-dependent promoter-proximal termination ensures genome stability

open access: yesNature, 2023
The proper regulation of transcription is essential for maintaining genome integrity and executing other downstream cellular functions^ 1 , 2 . Here we identify a stable association between the genome-stability regulator sensor of single-stranded DNA ...
Congling Xu   +29 more
semanticscholar   +1 more source

BAP1 as a guardian of genome stability: implications in human cancer

open access: yesExperimental and Molecular Medicine, 2023
BAP1 is a ubiquitin C-terminal hydrolase domain-containing deubiquitinase with a wide array of biological activities. Studies in which advanced sequencing technologies were used have uncovered a link between BAP1 and human cancer.
Jongbum Kwon, Daye Lee, Shin-Ai Lee
semanticscholar   +1 more source

PARP1 associates with R-loops to promote their resolution and genome stability

open access: yesNucleic Acids Research, 2023
PARP1 is a DNA-dependent ADP-Ribose transferase with ADP-ribosylation activity that is triggered by DNA breaks and non-B DNA structures to mediate their resolution.
Natalie Laspata   +12 more
semanticscholar   +1 more source

Centromere: A Trojan horse for genome stability.

open access: yesDNA Repair, 2023
Centromeres play a key role in the maintenance of genome stability to prevent carcinogenesis and diseases. They are specialized chromosome loci essential to ensure faithful transmission of genomic information across cell generations by mediating the ...
Andrea Scelfo, D. Fachinetti
semanticscholar   +1 more source

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