Somatic Mutations and Autoimmunity [PDF]
Cells, 2021 Autoimmune diseases are among the most common chronic illness caused by a dysregulated immune response against self-antigens. Close to 5% of the general population in Western countries develops some form of autoimmunity, yet its underlying causes ...
Maha Alriyami, Constantin Polychronakos
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Editorial: Somatic mutations, genome mosaicism and aging [PDF]
, 2023 We present a Research Topic entitled “Somatic mutations, genome mosaicism, and aging” in Frontiers in Aging. Somatic mutations are defined as mutations that occur in cells of the body after fertilization.
Lodato, Michael A, Vijg, Jan
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Prognostic and predictive value of TP53 mutations in node-positive breast cancer patients treated with anthracycline- or anthracycline/taxane-based adjuvant therapy : results from the BIG 02-98 phase III trial [PDF]
, 2012 Introduction: Pre-clinical data suggest p53-dependent anthracycline-induced apoptosis and p53-independent taxane activity. However, dedicated clinical research has not defined a predictive role for TP53 gene mutations. The aim of the current study was to
Emmanuel Quinaux +72 more
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BMC Cancer, 2021 Background Certain sequences of genomic mutations can lead to cancer formation and affect treatment outcomes and drug resistance. We constructed a cancer evolutionary tree using bulk-targeted deep sequencing to explore the impact of sequential and co ...
Peng-Chan Lin +6 more
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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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Analysis of somatic mutations in 131 human brains reveals aging-associated hypermutability
, 2022 We analyzed 131 human brains (44 neurotypical, 19 with Tourette syndrome, 9 with schizophrenia, and 59 with autism) for somatic mutations after whole genome sequencing to a depth of more than 200x.
Roberts, Rosalinda C. +27 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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Clinicoprognostical features of endometrial cancer patients with somatic mtDNA mutations [PDF]
, 2006 Somatic mitochondrial DNA (mtDNA) mutations have been found in a subset of endometrial cancers (EC) from different populations. We have investigated the relationship between mtDNA changes and clinical and pathological variables of women affected by ...
Bartnik, Ewa +13 more
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Genes enriched with somatic mutations.
, 2021 Genes enriched with somatic mutations.
Lilja Jansson (9620924) +2 more
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