Results 251 to 260 of about 200,238 (297)
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Review: Somatic mutations in neurodegeneration
Neuropathology and Applied Neurobiology, 2018Somatic mutations are postzygotic mutations which may lead to mosaicism, the presence of cells with genetic differences in an organism. Their role in cancer is well established, but detailed investigation in health and other diseases has only been recently possible.
M. Leija‐Salazar +2 more
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Somatic mutations and ageing in silico
Mechanisms of Ageing and Development, 2003Considerable evidence points to an accumulation of somatic mutations in older cells and organisms but the causal role of mutations in the ageing process is still unclear. In addition to demonstrating that mutations accumulate, it is important to address the question of whether they do so at a sufficient rate and with a dynamic profile that is ...
Kirkwood TBL, Proctor CJ
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Problems of somatic mutation and cancer
BioEssays, 2004AbstractSomatic mutation plays a key role in transforming normal cells into cancerous cells. The analysis of cancer progression therefore requires the study of how point mutations and chromosomal mutations accumulate in cellular lineages. The spread of somatic mutations depends on the mutation rate, the number of cell divisions in the history of a ...
Steven A, Frank, Martin A, Nowak
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Evidence of somatic mutations in osteoarthritis
Human Genetics, 1996We examined, cytogenetically and by in situ hybridization (ISH) techniques, the synovia, osteophytes, and articular cartilage from 32 patients with pronounced osteoarthritis (OA), a prevalent form of arthropathy characterized by progressive reduction of articular cartilage, and synovial samples from 17 control patients.
F, Mertens +9 more
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Somatic Mutation in the Neonatal Mouse
The Journal of Immunology, 1998Abstract Several mechanisms that diversify the adult immune repertoire, such as terminal deoxynucleotidyl transferase-dependent N region addition, are not available to the neonatal mouse. One important process that contributes to protective immunity in the adult is somatic mutation, which plays a major role in the generation of high ...
C A, Giorgetti, J L, Press
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Somatic mutations and the hierarchy of hematopoiesis
BioEssays, 2010AbstractClonal disease is often regarded as almost synonymous with cancer. However, it is becoming increasingly clear that our bodies harbor numerous mutant clones that are not tumors, and mostly give rise to no disease at all. Here we discuss three somatic mutations arising within the hematopoietic system: BCR‐ABL, characteristic of chronic myeloid ...
Traulsen, A. +3 more
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Germline and somatic mutations in meningiomas
Cancer Genetics, 2015Meningiomas arise from the arachnoid layer of the meninges that surround the brain and spine. They account for over one third of all primary central nervous system tumors in adults and confer a significant risk of location-dependent morbidity due to compression or displacement.
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Somatic Mutation and Antibody Diversity
Survey and Synthesis of Pathology Research, 2008Nucleotide insertions or deletions determine novel amino acid sequences at the VH-D and D-JH junction sites. Since these cannot be predicted by known coding genes, they are regarded as a form of somatic mutagenesis. A second type of somatic mutation in Ig structural genes are the stochastic base substitutions that have now been found in both V region ...
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Somatic Mutations in Aplastic Anemia
Hematology/Oncology Clinics of North America, 2018Aplastic anemia (AA) is an immune-mediated disorder that overlaps closely with clonal disorders, such as myelodysplastic syndrome and paroxysmal nocturnal hemoglobinuria (PNH). PIGA mutations in PNH clones and functional loss of HLA, including structural HLA mutations, likely represent immune escape clones and correlate with response to ...
Mufti, Ghulam J., Marsh, Judith C.W.
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2017
Somatic mutations in patient tumor DNA samples can be readily detected based on mass spectrometry. The MassARRAY system is a high-throughput matrix-assisted laser desorption time-of-flight (MALDI) mass spectrometer for detection of nucleic acids. The technique is based on single-nucleotide base extension.
Anthony, O'Grady, Robert, Cummins
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Somatic mutations in patient tumor DNA samples can be readily detected based on mass spectrometry. The MassARRAY system is a high-throughput matrix-assisted laser desorption time-of-flight (MALDI) mass spectrometer for detection of nucleic acids. The technique is based on single-nucleotide base extension.
Anthony, O'Grady, Robert, Cummins
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