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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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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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Brain somatic mutations in Alzheimer’s disease: linking genetic mosaicism to neurodegeneration [PDF]
Molecular NeurodegenerationSomatic mutations are DNA sequence changes that occur in non-reproductive cells during an organism’s life and are not inherited by offspring. Growing evidence implicates somatic mutations in Alzheimer’s disease (AD), linking them to both disease onset ...
Zuguang Li +11 more
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Characteristics of Germline and Somatic Mutations of DNA Repair Genes in Korean Men with Prostate Cancer [PDF]
The World Journal of Men's HealthPurpose: While the association between defect of DNA damage repair (DDR) genes and prostate cancer (PCa) risk is wellestablished, there has been a lack of data in East Asian population.
Hakmin Lee +8 more
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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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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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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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