Results 11 to 20 of about 208,660 (254)
Cardiovascular and metabolic characters of KCNJ5 somatic mutations in primary aldosteronism
Frontiers in Endocrinology, 2023 BackgroundPrimary aldosteronism (PA) is the leading cause of curable endocrine hypertension, which is associated with a higher risk of cardiovascular and metabolic insults compared to essential hypertension. Aldosterone-producing adenoma (APA) is a major
Yi-Yao Chang +16 more
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Assessment of somatic mutations in urine and plasma of Wilms tumor patients
Cancer Medicine, 2020 Tumor DNA has been detected in body fluids of cancer patients. Somatic tumor mutations are being used as biomarkers in body fluids to monitor chemotherapy response as a minimally invasive tool.
Ana Carolina Kerekes Miguez +8 more
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Somatic Mutations in Cardiovascular Disease [PDF]
Circulation Research, 2022 Advances in population-scale genomic sequencing have greatly expanded the understanding of the inherited basis of cardiovascular disease (CVD). Reanalysis of these genomic datasets identified an unexpected risk factor for CVD, somatically acquired DNA mutations. In this review, we provide an overview of somatic mutations and their contributions to CVD.
J. Brett Heimlich, Alexander G. Bick
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PLoS ONE, 2022 Somatic mutations have a central role in cancer, but there are also a few rare autoimmune diseases in which somatic mutations play a major role. We have recently shown that nonsynonymous somatic mutations with low allele fractions are preferentially ...
Miko Valori +6 more
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Oxidative stress is not a major contributor to somatic mitochondrial DNA mutations.
PLoS 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
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Confidence-based somatic mutation evaluation and prioritization.
PLoS 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
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Somatic Mutations in Fruit Trees: Causes, Detection Methods, and Molecular Mechanisms
Plants, 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
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Germline and somatic mtDNA mutations in mouse aging. [PDF]
PLoS 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
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QuaDMutEx: quadratic driver mutation explorer
BMC 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
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