DNA Replication Errors Drive Genome‐Wide Small Inverted Triplication Dynamics
This study provides insight into the dynamic equilibrium mechanism of a novel structural variant, small inverted triplication (SIT), which is generated by misalignment of the 3’ flap generated under DNA replication stress with palindromic sequence. Alternatively, the end sequence may fold back on itself to form an inverted fragment.
Yi Lei +12 more
wiley +1 more source
Microsatellite instability in Marek’s Disease Virus infected primary chicken embryo fibroblasts
Background Marek’s disease virus (MDV), an oncogenic α-herpes virus, causes a devastating disease in chickens characterized by development of lymphoblastoid tumors in multiple organs.
Zhou Zhenlei +3 more
doaj +1 more source
LINE-1 hypomethylation in cancer is highly variable and inversely correlated with microsatellite instability. [PDF]
Alterations in DNA methylation in cancer include global hypomethylation and gene-specific hypermethylation. It is not clear whether these two epigenetic errors are mechanistically linked or occur independently.
Marcos R H Estécio +11 more
doaj +1 more source
Elevated neoantigen levels in tumors with somatic mutations in the HLA-A, HLA-B, HLA-C and B2M genes. [PDF]
BackgroundThe major histocompatibility complex class I (MHC-I) molecule is a protein complex that displays intracellular peptides to T cells, allowing the immune system to recognize and destroy infected or cancerous cells.
Carter, Hannah +5 more
core +1 more source
Mutations and amplification of oncogenes in endometrial cancer [PDF]
Alterations in oncogenes are critical steps in the development of endometrial cancer. To investigate the potential clinical relevance of the amplification of the oncogenes c-erbB2, c-myc, and int-2 and the mutation of K-ras in endometrial cancer, 112 ...
An, Han-Xiang +5 more
core +1 more source
Testing tumors for microsatellite instability [PDF]
The methods for determining microsatellite instability in tumors are highly heterogeneous. Recently a 5-marker panel of microsatellites was suggested for this purpose. In this review attention is drawn to the fact that microsatellite instability can be assessed by analyzing tumor DNA with a single marker, BAT-26, and that normal tissue DNA from the ...
openaire +2 more sources
In colorectal cancer, high expression of the DNA repair protein EEPD1 correlates with immune exclusion and poor prognosis. This study demonstrates that EEPD1 depletion induces genomic instability, leading to cytosolic DNA accumulation and subsequent activation of the cGAS‐STING‐type I interferon pathway. This cascade remodels the tumor microenvironment
Liyun Huo +8 more
wiley +1 more source
Znaczenie mechanizmu naprawy DNA błędnie sparowanych zasad azotowych (MMR) w raku piersi
Background: Microsatellite instability (MSI) is due to defective DNA mismatch repair. Defects in DNA mismatch-repair (MMR) genes lead to replication errors revealed as instability in microsatellite markers.
Hanna Romanowicz +6 more
doaj
Identification of a novel deletion mutant strain in Saccharomyces cerevisiae that results in a microsatellite instability phenotype [PDF]
The DNA mismatch repair (MMR) pathway corrects specific types of DNA replication errors that affect microsatellites and thus is critical for maintaining genomic integrity.
Hanlee P. Ji +5 more
doaj +3 more sources
Mutation in the guanine nucleotide-binding protein beta-3 causes retinal degeneration and embryonic mortality in chickens [PDF]
PURPOSE. To identify the gene defect that causes blindness and the predisposition to embryonic death in the retinopathy globe enlarged (rge) chicken. METHODS.
Ali, Manir +6 more
core +1 more source

