Results 11 to 20 of about 3,810,652 (392)
WormBook, 2006 The integrity of the genome is essential to the health of the individual and to the reproductive success of a species. Transmission of genetic information is in a selective balance between two opposing forces, the maintenance of genetic stability versus elimination of mutational change and loss of evolutionary potential. Caenorhabditis elegans provides
Nigel, O'Neil, Ann, Rose
openaire +2 more sources
Identification of MLH2/hPMS1 dominant mutations that prevent DNA mismatch repair function
Communications Biology, 2020 Reyes et al. identified and characterized dominant mutations in the MutL homolog MLH2 (in S. cerevisiae) and PMS1 (in humans) causing an increased mutator phenotype.
Gloria X. Reyes +5 more
doaj +1 more source
Loop extrusion as a mechanism for DNA damage repair foci formation
Nature, 2021 The repair of DNA double-strand breaks (DSBs) is essential for safeguarding genome integrity. When a DSB forms, the PI3K-related ATM kinase rapidly triggers the establishment of megabase-sized, chromatin domains decorated with phosphorylated histone H2AX
C. Arnould +12 more
semanticscholar +1 more source
Frontiers in Aging Neuroscience, 2022 Alzheimer’s disease (AD) is the most common neurodegenerative disease. Growing evidence suggests an important role for gut dysbiosis and gut microbiota-host interactions in aging and neurodegeneration.
Xixia Chu +9 more
doaj +1 more source
DNA polymerases required for repair of UV-induced damage in Saccharomyces cerevisiae [PDF]
, 1995 The ability of yeast DNA polymerase mutant strains to carry out repair synthesis after UV irradiation was studied by analysis of postirradiation molecular weight changes in cellular DNA.
Budd, Martin E., Campbell, Judith L.
core +2 more sources
Mechanism of substrate hydrolysis by the human nucleotide pool sanitiser DNPH1
Nature Communications, 2023 Poly(ADP-ribose) polymerase (PARP) inhibitors are used in the clinic to treat BRCA-deficient breast, ovarian and prostate cancers. As their efficacy is potentiated by loss of the nucleotide salvage factor DNPH1 there is considerable interest in the ...
Neil J. Rzechorzek +7 more
doaj +1 more source
A novel splice variant of the DNA-PKcs gene is associated with clinical and cellular radiosensivity in a patient with xeroderma pigmentosum [PDF]
, 2010 Background: Radiotherapy-induced DNA double-strand breaks (DSBs) are critical cytotoxic lesions. Inherited defects in DNA DSB repair pathways lead to hypersensitivity to ionising radiation, immunodeficiency and increased cancer incidence.
Abbaszadeh, Fatemah +9 more
core +1 more source
DNA demethylation by DNA repair [PDF]
Trends in Genetics, 2009 Active DNA demethylation underlies key facets of reproduction in flowering plants and mammals and serves a general genome housekeeping function in plants. A family of 5-methylcytosine DNA glycosylases catalyzes plant demethylation via the well-known DNA base-excision-repair process.
Gehring, Mary +2 more
openaire +3 more sources
Biomolecular Concepts, 2020 Liquid-liquid phase separation (LLPS) is a way to concentrate biochemical reactions while excluding noninteracting components. Disordered domains of proteins, as well as interaction with RNA, favor condensation but are not mandatory for modulating this ...
Tosolini Damiano +3 more
doaj +1 more source
Personalized genome structure via single gamete sequencing
Genome Biology, 2021 Genetic maps have been fundamental to building our understanding of disease genetics and evolutionary processes. The gametes of an individual contain all of the information required to perform a de novo chromosome-scale assembly of an individual’s genome,
Ruqian Lyu +3 more
doaj +1 more source