Results 11 to 20 of about 182,601 (264)
Reports, 2023 The implementation of next-generation sequencing (NGS) in clinical oncology has enabled the analysis of multiple cancer-associated genes for diagnostics and treatment purposes.
Lau K. Vestergaard +4 more
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Mutational analysis of mitochondrial DNA in Brugada syndrome [PDF]
Cardiovascular Pathology, 2016 Brugada syndrome (BrS) is a primary electrical disease associated with an increased risk of sudden cardiac death due to ventricular fibrillation. This pathology has nuclear heterogeneous genetic origins, and at present, molecular diagnostic tests on nuclear DNA cover only 30% of BrS patients. The aim of this study was to assess the possible involvement
STOCCHI, LAURA +12 more
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A System for the Analysis of Yeast Ribosomal DNA Mutations [PDF]
Molecular and Cellular Biology, 1989 To develop a system for the analysis of eucaryotic ribosomal DNA (rDNA) mutations, we cloned a complete, transcriptionally active rDNA unit from the yeast Saccharomyces cerevisiae on a centromere-containing yeast plasmid. To distinguish the plasmid-derived ribosomal transcripts from those encoded by the rDNA locus, we inserted a tag of 18 base pairs ...
W, Musters +5 more
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Mutational processes in cancer preferentially affect binding of particular transcription factors
Scientific Reports, 2021 Protein binding microarrays provide comprehensive information about the DNA binding specificities of transcription factors (TFs), and can be used to quantitatively predict the effects of DNA sequence variation on TF binding.
Mo Liu +4 more
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BMC Cancer, 2020 Background Tobacco smoking is associated with a unique mutational signature in the human cancer genome. It is unclear whether tobacco smoking-altered DNA methylations and gene expressions affect smoking-related mutational signature.
Zhishan Chen +8 more
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Identification of multiplicatively acting modulatory mutational signatures in cancer
BMC Bioinformatics, 2022 Background A deep understanding of carcinogenesis at the DNA level underpins many advances in cancer prevention and treatment. Mutational signatures provide a breakthrough conceptualisation, as well as an analysis framework, that can be used to build ...
Dovydas Kičiatovas +7 more
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Salud Pública de México, 2019 Objective. Targeted next-generation sequencing (t-NGS) has revolutionized clinical diagnosis allowing multiplexed detection of genomic alterations. This study evaluated the profile of somatic mutations by t-NGS in Mexican patients with non-small cell ...
Norma Hernández-Pedro +6 more
doaj +1 more source
Mutational analysis of the lambda int gene: DNA sequence of dominant mutations [PDF]
Journal of Bacteriology, 1987 We have combined techniques of genetic and physical mapping with rapid DNA sequence analysis to identify the nucleotide change in lambda int mutations. These mutations define two dominant phenotypic classes: (i) recombination that is partially independent of accessory factors, and (ii) inhibition of wild-type Int by missense or nonsense proteins, i.e.,
S E, Bear +3 more
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Sporadic Kindler Syndrome with a novel mutation [PDF]
Anais Brasileiros de Dermatologia, 2013 We report the case of a 28-year-old woman with Kindler syndrome, a rare form of epidermolysis bullosa. Clinically, since childhood, she had widespread pigmentary changes in her skin as well as photosensitivity and fragility of the skin and mucous ...
Hiram Larangeira de Almeida Jr +4 more
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Frontiers in Bioscience-Landmark, 2023 Background: There is considerable interest in the molecular evaluation of solid tumors in pediatric cases. Although clinical trials are in progress for targeted therapies against neuroblastoma (NB), novel therapeutic strategies are needed for high-risk ...
Tekincan Aktas +11 more
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