Results 21 to 30 of about 1,861,621 (385)
Nature Genetics, 2022 Although lung cancer risk among smokers is dependent on smoking dose, it remains unknown if this increased risk reflects an increased rate of somatic mutation accumulation in normal lung cells.
Zhenqiu Huang +14 more
semanticscholar +1 more source
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
doaj +1 more source
Regulatory non-coding somatic mutations as drivers of neuroblastoma. [PDF]
Br J CancerMontella A +7 more
europepmc +3 more sources
Landmarks of human embryonic development inscribed in somatic mutations
Science, 2021 Mutations provide an enduring record Somatic mutations pepper our cells with change, but because they are not in the germline, they do not propagate to the next generation. Bizzotto et al. leveraged data on the distribution of somatic mutations in adults
S. Bizzotto +10 more
semanticscholar +1 more source
Introduction: Forensic Fail [PDF]
, 2014 Background: About 60% of Pheochromocytoma (PCC) and Paraganglioma (PGL) patients have either germline or somatic mutations in one of the 12 proposed disease causing genes; SDHA, SDHB, SDHC, SDHD, SDHAF2, VHL, EPAS1, RET, NF1, TMEM127, MAX and H-RAS ...
Björklund, Peyman +6 more
core +5 more sources
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
doaj +1 more source
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
doaj +1 more source
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
doaj +2 more sources
Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease.
New England Journal of Medicine, 2020 BACKGROUND Adult-onset inflammatory syndromes often manifest with overlapping clinical features. Variants in ubiquitin-related genes, previously implicated in autoinflammatory disease, may define new disorders.
D. Beck +61 more
semanticscholar +1 more source
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
doaj +1 more source