Results 331 to 340 of about 1,861,621 (385)
Review: Somatic mutations in neurodegeneration
Neuropathology and Applied Neurobiology, 2018 Somatic 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
openaire +3 more sources
Some of the next articles are maybe not open access.
Related searches:
Related searches:
Somatic Mutations in UBA1 Define a Distinct Subset of Relapsing Polychondritis Patients With VEXAS
Arthritis & Rheumatology, 2021Somatic mutations in UBA1 cause a newly defined syndrome known as VEXAS (vacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic syndrome). More than 50% of patients currently identified as having VEXAS met diagnostic criteria for relapsing ...
M. Ferrada +34 more
semanticscholar +1 more source
Neurosurgery elucidates somatic mutations
Science, 2023Surgical innovation is helping to identify roles for somatic mutations in brain ...
Eduardo A, Maury +2 more
openaire +2 more sources
Journal of Toxicology and Environmental Health, 1980
The evidence is reviewed that supports the role of genetic lesions in carcinogenesis; such lesions may be initiating events in the multistep process leading to clinically detectable tumor. Other possible manifestations of alterations in the hereditary material of somatic cells are discussed; DNA damage may lead to benign tumors responsible for ...
openaire +2 more sources
The evidence is reviewed that supports the role of genetic lesions in carcinogenesis; such lesions may be initiating events in the multistep process leading to clinically detectable tumor. Other possible manifestations of alterations in the hereditary material of somatic cells are discussed; DNA damage may lead to benign tumors responsible for ...
openaire +2 more sources
Somatic Mutations and Alzheimer’s Disease
Journal of Alzheimer's Disease, 2022Alzheimer’s disease (AD) represents a global health challenge, with an estimated 55 million people suffering from the non-curable disease across the world. While amyloid-β plaques and tau neurofibrillary tangles in the brain define AD proteinopathy, it has become evident that diverse coding and non-coding regions of the genome may significantly ...
Jocelyn, Downey +3 more
openaire +2 more sources
Identifying Somatic Mitochondrial DNA Mutations
2022Mitochondria are cellular organelles that play an essential role in eukaryotes, producing the energy needed for a cell to survive. Beyond the ~3.2 Gb of nuclear genomic DNA, each human cell has hundreds of mitochondria which carry one or a few copies of the 16.5 kb circular mitochondria DNA (mtDNA).
Jisong, An +2 more
openaire +2 more sources
Abstract 397: Systematic functional annotation of somatic mutations in cancer
Molecular and Cellular Biology / Genetics, 2018Recent sequencing studies have identified thousands of unique somatic mutations across patient tumors. However, the functional impact of the vast majority of these mutations remains unknown, representing a critical knowledge gap for implementing ...
Han Liang +7 more
semanticscholar +1 more source
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
openaire +2 more sources
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
openaire +2 more sources
Annals of the New York Academy of Sciences, 1998
ABSTRACT: A key prediction of the somatic mutation theory of aging is that there is an invariant relationship between life span and the number of random mutations. A number of studies at a number of gene loci have shown that somatic mutations of a variety of types accumulate with age.
openaire +2 more sources
ABSTRACT: A key prediction of the somatic mutation theory of aging is that there is an invariant relationship between life span and the number of random mutations. A number of studies at a number of gene loci have shown that somatic mutations of a variety of types accumulate with age.
openaire +2 more sources
Somatic mutations linked to osteoporosis
Nature Reviews Rheumatology, 2021A new study suggests that DNMT3A mutations associated with clonal haematopoiesis of indeterminate potential are linked to osteoporosis through IL-20-mediated osteoclastogenesis.
openaire +2 more sources