Results 1 to 10 of about 20,219 (169)
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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Integrative analysis of somatic mutations altering microRNA targeting in cancer genomes. [PDF]
PLoS ONE, 2012 Determining the functional impact of somatic mutations is crucial to understanding tumorigenesis and metastasis. Recent sequences of several cancers have provided comprehensive lists of somatic mutations across entire genomes, enabling investigation of ...
Jesse D Ziebarth +2 more
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Genetics of Aldosterone-Producing Adenoma in Korean Patients. [PDF]
PLoS ONE, 2016 OBJECTIVES:Recently, somatic mutations in KCNJ5, ATP1A1, ATP2B3, and CACNA1D genes were found to be associated with the pathogenesis of aldosterone-producing adenoma (APA).
A Ram Hong +8 more
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Oxidative stress is not a major contributor to somatic mitochondrial DNA mutations. [PDF]
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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Cells, 2020 Prion diseases are caused by misfolded prion protein (PrPSc) and are accompanied by spongiform vacuolation of brain lesions. Approximately three centuries have passed since prion diseases were first discovered around the world; however, the exact role of
Yong-Chan Kim +2 more
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Detection and benchmarking of somatic mutations in cancer genomes using RNA-seq data [PDF]
PeerJ, 2018 To detect functional somatic mutations in tumor samples, whole-exome sequencing (WES) is often used for its reliability and relative low cost. RNA-seq, while generally used to measure gene expression, can potentially also be used for identification of ...
Alexandre Coudray +3 more
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BMC Cancer, 2020 Background PARP inhibitors (PARPi) have recently been approved for various malignancies based on the results of several clinical trials. However, these trials have mostly recruited patients with germline BRCA mutations, and it is unclear whether PARPi ...
Ghulam Rehman Mohyuddin +8 more
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Association analysis using somatic mutations. [PDF]
PLoS Genetics, 2018 Somatic mutations drive the growth of tumor cells and are pivotal biomarkers for many cancer treatments. Genetic association analysis using somatic mutations is an effective approach to study the functional impact of somatic mutations.
Yang Liu, Qianchuan He, Wei Sun
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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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