نتایج جستجو برای: somatic mutation
تعداد نتایج: 325275 فیلتر نتایج به سال:
For risk assessment, it is necessary to evaluate the dose of human exposure to radiation. Ionizing radiation being an environmental genotoxic factor induces dosedependent somatic mutations. Recent studies support the somatic-mutation theory of carcinogenesis. Mutations at the Glycophorin–A (GPA) loci have been studied for establishment of somatic mutation assays. GPA assay provides a lifetime b...
Genetic diversity among plants sprouted from seven year old clones of mulberry (Morus indica var. S36) was studied using molecular markers such as ISSR and RAPD. The clones showed significant variability in sex expression and the sprouting behavior. These changes were appeared after seven years of rigorous pruning and training (pruned once in every 3-4months). Genetic diversity analysis reveale...
The emergence of next generation DNA sequencing technology is enabling high-resolution cancer genome analysis. Large-scale projects like the International Cancer Genome Consortium (ICGC) are systematically scanning cancer genomes to identify recurrent somatic mutations. Second generation DNA sequencing, however, is still an evolving technology and procedures, both experimental and analytical, a...
Recent studies of somatic and germline mutations have led to the identification of a number of factors that influence point mutation rates, including CpG methylation, expression levels, replication timing, and GC content. Intriguingly, some of the effects appear to differ between soma and germline: in particular, whereas mutation rates have been reported to decrease with expression levels in tu...
The growth behaviors of cutaneous neurofibromas in patients with Neurofibromatosis type 1 are highly variable. The role of the germline NF1 mutation, somatic NF1 mutation and mutations at modifying loci, are poorly understood. We performed whole exome sequencing of three growing and three non-growing neurofibromas from a single individual to assess the role of acquired somatic mutations in neur...
Familial essential thrombocythemia features the acquisition of somatic mutations and an evolution similar to the sporadic form of the disease. Here we report two patients-father and daughter-with essential thrombocythemia who displayed a heterogeneous pattern of somatic mutations. The JAK2 V617F mutation was found in the daughter, while the father harbored the MPL W515L mutation. This case repo...
This study evaluated the effects of somatic mutations and single nucleotide polymorphisms (SNPs) on disease progression and tried to verify the two-hit theory in cancer pathogenesis. To address this issue, SNP analysis was performed using the UCSC hg19 program in 10 acute myeloid leukemia patients (samples, G1 to G10), and somatic mutations were identified in the same tumor sample using Somatic...
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