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   Articles with "somatic mutation" as a keyword



Identification of a novel somatic mutation of POU6F2 by whole‐genome sequencing in prolactinoma

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recommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"

DOI: 10.1002/mgg3.1022

Abstract: Pituitary adenomas (PAs) are one of the most common intracranial tumors; approximately half of PAs are prolactin (PRL)‐secreting PAs (prolactinomas). The genetic alterations prevalent in prolactinomas are unknown. read more here.

Keywords: novel somatic; whole genome; somatic mutation; mutation pou6f2 ... See more keywords

Reconstructing the lifelong history of cells and tissues via somatic mutation analysis

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recommendations! Published in 2025 at "Cellular and Molecular Life Sciences"

DOI: 10.1007/s00018-025-05946-9

Abstract: During a lifetime, normal cells accumulate thousands of changes in their genome sequence. These changes, termed somatic mutations, have mostly been studied in the context of cancer, but their presence in normal tissues is ubiquitous… read more here.

Keywords: somatic mutation; history; cells tissues; mutation analysis ... See more keywords

Altered somatic mutation level and DNA repair gene expression in Arabidopsis thaliana exposed to ultraviolet C, salt, and cadmium stresses

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recommendations! Published in 2017 at "Acta Physiologiae Plantarum"

DOI: 10.1007/s11738-017-2600-9

Abstract: It is known that somatic mutations arising during animal growth and ageing contribute to the development of neurodegenerative and other animal diseases. For plants, several studies showed that small-scale somatic DNA mutations accumulated during Arabidopsis… read more here.

Keywords: dna repair; dna; somatic mutation; cadmium ... See more keywords

Identification of a somatic mutation in the RHEB gene through high depth and ultra-high depth next generation sequencing in a patient with Hemimegalencephaly and drug resistant Epilepsy.

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recommendations! Published in 2018 at "European journal of medical genetics"

DOI: 10.1016/j.ejmg.2018.11.005

Abstract: Malformations of cortical development are a frequent cause of drug-resistant Epilepsy and developmental delay. Hemimegalencephaly is a Malformation of cortical development characterized by enlargement of all or a part of one cerebral hemisphere. Germline and… read more here.

Keywords: epilepsy; depth; somatic mutation; rheb ... See more keywords

Impact of experimental design on PET radiomics in predicting somatic mutation status.

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recommendations! Published in 2017 at "European journal of radiology"

DOI: 10.1016/j.ejrad.2017.10.009

Abstract: PURPOSE PET-based radiomic features have demonstrated great promises in predicting genetic data. However, various experimental parameters can influence the feature extraction pipeline, and hence, Here, we investigated how experimental settings affect the performance of radiomic… read more here.

Keywords: pet; radiomic features; mutation status; somatic mutation ... See more keywords

Somatic mutation subtypes of lung adenocarcinoma in East Asian reveal divergent biological characteristics and therapeutic vulnerabilities

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recommendations! Published in 2021 at "iScience"

DOI: 10.1016/j.isci.2021.102522

Abstract: Summary Lung adenocarcinoma (LUAD) patients in East Asia predominantly harbor oncogenic EGFR mutations. However, there remains a limited understanding of the biological characteristics and therapeutic vulnerabilities of the concurrent mutations of EGFR and other genes… read more here.

Keywords: lung adenocarcinoma; mutation; characteristics therapeutic; therapeutic vulnerabilities ... See more keywords
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Elevated somatic mutation and evidence of genomic instability in veterans with gulf war illness.

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recommendations! Published in 2021 at "Life sciences"

DOI: 10.1016/j.lfs.2021.119746

Abstract: AIMS Gulf War illness (GWI) is thought to be associated with exposures experienced by soldiers deployed in the 1991 Gulf War. A major question is how these exposures continue to influence the health of these… read more here.

Keywords: gulf war; somatic mutation; genomic instability; mutation ... See more keywords

MIRAGE Syndrome: Phenotypic Rescue by Somatic Mutation and Selection.

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recommendations! Published in 2019 at "Trends in molecular medicine"

DOI: 10.1016/j.molmed.2019.08.008

Abstract: MIRAGE syndrome, a multisystem disorder, results from heterozygous gain-of-function mutations in SAMD9, which encodes a growth suppressor, located on chromosome 7. Somatic changes involving loss-of-function mutations of the altered SAMD9 allele or loss of chromosome… read more here.

Keywords: somatic mutation; mutation selection; mirage syndrome; phenotypic ... See more keywords

Immune-related somatic mutation genes are enriched in PDACs with diabetes

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recommendations! Published in 2019 at "Translational Oncology"

DOI: 10.1016/j.tranon.2019.03.006

Abstract: The bidirectional interaction between pancreatic cancer (PanCa) and diabetes has been confirmed by epidemiological studies, but until now, the underlying molecular mechanisms for this connection is not fully understood yet. Here, we analyzed the clinical… read more here.

Keywords: pdac patients; pdacs; somatic mutation; immune related ... See more keywords

Somatic mutation profiling of vulvar cancer: Exploring therapeutic targets.

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recommendations! Published in 2018 at "Gynecologic oncology"

DOI: 10.1016/j.ygyno.2018.06.026

Abstract: BACKGROUND Vulvar squamous cell carcinoma (VSCC) constitutes over 90% of vulvar cancer. Its pathogenesis can follow two different pathways; high risk human papillomavirus (hrHPV)-dependent and HPV-independent. Due to the rarity of VSCC, molecular mechanisms underlying… read more here.

Keywords: hrhpv hrhpv; somatic mutation; vscc; hrhpv ... See more keywords
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The somatic mutation landscape of normal gastric epithelium

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recommendations! Published in 2024 at "Nature"

DOI: 10.1038/s41586-025-08708-6

Abstract: The landscapes of somatic mutation in normal cells inform on the processes of mutation and selection operative throughout life, permitting insight into normal ageing and the earliest stages of cancer development. Here, by whole-genome sequencing… read more here.

Keywords: cancer; gastric epithelium; somatic mutation; mutation landscape ... See more keywords