Genetic Requirements for Intra-Chromosomal Deletions [PDF]
, 2020 Chromosomal deletions are one of the most dangerous types of DNA damage and often arise as a result of inappropriately repaired DNA double strand breaks (DSB).
McPherson, Matthew
core
Parallel analysis of ribonucleotide-dependent deletions produced by yeast Top1 in vitro and in vivo [PDF]
, 2016 Ribonucleotides are the most abundant non-canonical component of yeast genomic DNA and their persistence is associated with a distinctive mutation signature characterized by deletion of a single repeat unit from a short tandem repeat.
Burgers, Peter M +5 more
core +2 more sources
LDAcoop: Integrating non‐linear population dynamics into the analysis of clonogenic growth in vitro
Molecular Oncology, EarlyView.Limiting dilution assays (LDAs) quantify clonogenic growth by seeding serial dilutions of cells and scoring wells for colony formation. The fraction of negative wells is plotted against cells seeded and analyzed using the non‐linear modeling of LDAcoop.
Nikko Brix +13 more
wiley +1 more source
Peroxidasin enables melanoma immune escape by inhibiting natural killer cell cytotoxicity
Molecular Oncology, EarlyView.Peroxidasin (PXDN) is secreted by melanoma cells and binds the NK cell receptor NKG2D, thereby suppressing NK cell activation and cytotoxicity. PXDN depletion restores NKG2D signaling and enables effective NK cell–mediated melanoma killing. These findings identify PXDN as a previously unrecognized immune evasion factor and a potential target to improve
Hsu‐Min Sung +17 more
wiley +1 more source
Measuring microsatellite conservation in mammalian evolution with a phylogenetic birth-death model. [PDF]
, 2012 Microsatellites make up ∼3% of the human genome, and there is increasing evidence that some microsatellites can have important functions and can be conserved by selection.
Buschiazzo, Emmanuel +4 more
core +1 more source
The challenge of small-scale repeats for indel discovery
Frontiers in Bioengineering and Biotechnology, 2015 Repetitive sequences are abundant in the human genome. Different classes of repetitive DNA sequences, including simple repeats, tandem repeats, segmental duplications, interspersed repeats and other elements, collectively span more than 50% of the genome.
Giuseppe eNarzisi, Michael C Schatz
doaj +1 more source
NEUROLOGICAL DISORDER AMONG PREMUTATION CARRIERS OF FRAGILE X SYNDROME AT SEMIN, GUNUNG KIDUL REGENCY [PDF]
, 2010 Background: Neurological disorder among male premutation carriers of Fragile X Syndrome (FXS) frequently occurs. In other hand, lacking of information results misdiagnosis of this disorder.
Ardiansyah, Rivaldi
core
De novo Development and Characterization of Tetranucleotide Microsatellite Loci Markers from a Southeastern Population of the House Finch (Haemorhous mexicanus) [PDF]
, 2019 Microsatellites are short tandem repeats (e.g. TAGATAGA) of base pairs in a species’ genome. High mutation rates in these regions produce variation in the number of repeats across individuals that can be utilized to study patterns of population- and ...
Barron, Douglas G +2 more
core +3 more sources
Tandem repeats derived from centromeric retrotransposons [PDF]
BMC Genomics, 2013 Abstract Background Tandem repeats are ubiquitous and abundant in higher eukaryotic genomes and constitute, along with transposable elements, much of DNA underlying centromeres and other heterochromatic domains. In maize, centromeric satellite repeat (CentC) and centromeric retrotransposons (CR), a class of Ty3/gypsy ...
Sharma, Anupma +2 more
openaire +2 more sources
Molecular Oncology, EarlyView.Single circulating tumor cells (sCTCs) from high‐grade serous ovarian cancer patients were enriched, imaged, and genomically profiled using WGA and NGS at different time points during treatment. sCTCs revealed enrichment of alterations in Chromosomes 2, 7, and 12 as well as persistent or emerging oncogenic CNAs, supporting sCTC identity.
Carolin Salmon +9 more
wiley +1 more source