Results 21 to 30 of about 233,128 (302)

Oxidative stress is not a major contributor to somatic mitochondrial DNA mutations.

open access: yesPLoS Genetics, 2014
The accumulation of somatic mitochondrial DNA (mtDNA) mutations is implicated in aging and common diseases of the elderly, including cancer and neurodegenerative disease. However, the mechanisms that influence the frequency of somatic mtDNA mutations are
Leslie S Itsara   +7 more
doaj   +1 more source

Confidence-based somatic mutation evaluation and prioritization.

open access: yesPLoS Computational Biology, 2012
Next generation sequencing (NGS) has enabled high throughput discovery of somatic mutations. Detection depends on experimental design, lab platforms, parameters and analysis algorithms.
Martin Löwer   +12 more
doaj   +1 more source

Somatic Mutations in Fruit Trees: Causes, Detection Methods, and Molecular Mechanisms

open access: yesPlants, 2023
Somatic mutations are genetic changes that occur in non-reproductive cells. In fruit trees, such as apple, grape, orange, and peach, somatic mutations are typically observed as “bud sports” that remain stable during vegetative propagation.
Seunghyun Ban, Je Hyeong Jung
doaj   +1 more source

Studies of JAK2 mutations in myeloproliferative disorders [PDF]

open access: yes, 2008
Myeloproliferative disorders (MPD) are diseases characterized by clonal hematopoiesis with overprodution of mature cells from erythroid, megakaryocytic and myeloid lineages.
Li, Sai
core   +1 more source

SOMATIC MUTATIONS IN SUNFLOWERS [PDF]

open access: yesJournal of Heredity, 1917
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openaire   +2 more sources

QuaDMutEx: quadratic driver mutation explorer

open access: yesBMC Bioinformatics, 2017
Background Somatic mutations accumulate in human cells throughout life. Some may have no adverse consequences, but some of them may lead to cancer. A cancer genome is typically unstable, and thus more mutations can accumulate in the DNA of cancer cells ...
Yahya Bokhari, Tomasz Arodz
doaj   +1 more source

Analysis of low-level somatic mosaicism reveals stage and tissue-specific mutational features in human development.

open access: yesPLoS Genetics, 2022
Most somatic mutations that arise during normal development are present at low levels in single or multiple tissues depending on the developmental stage and affected organs.
Ja Hye Kim   +12 more
doaj   +1 more source

Comparison of Germline versus Somatic BAP1 Mutations for Risk of Metastasis in Uveal Melanoma

open access: yesBMC Cancer, 2018
Background Germline mutations in BAP1 have been associated with BAP1-Tumor Predisposition Syndrome (BAP1-TPDS), a predisposition to multiple tumors within a family that includes uveal melanoma (UM), cutaneous melanoma, malignant mesothelioma and renal ...
K. G. Ewens   +4 more
doaj   +1 more source

Gene characteristics predicting missense, nonsense and frameshift mutations in tumor samples

open access: yesBMC Bioinformatics, 2018
Background Because driver mutations provide selective advantage to the mutant clone, they tend to occur at a higher frequency in tumor samples compared to selectively neutral (passenger) mutations.
Ivan P. Gorlov   +9 more
doaj   +1 more source

Germline and somatic mtDNA mutations in mouse aging. [PDF]

open access: yesPLoS ONE, 2018
The accumulation of acquired mitochondrial genome (mtDNA) mutations with aging in somatic cells has been implicated in mitochondrial dysfunction and linked to age-onset diseases in humans.
Hong Ma   +14 more
doaj   +1 more source

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