Using the method PCR amplification with random primers, DNA samples from human embryonic organs and tissues were examined. Among 27 oligonucleotide primers tested, 10 primers, producing stable, well-reproducible profiles of amplification products, were chosen for further analysis. With the help of two primers (447 and R45), the differences in RAPD PCR profiles obtained from the tissues of one embryo, were revealed. These differences were associated with the change of mobility, or with the fragment gain/loss in the RAPD profile, and could be caused either by genomic rearrangements, or mutations involving the regions of the DNA-primer pairing. Different epigenetic factors, like methylation, can also play the role in this process.
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Precis Clin Med
March 2025
Department of Gynecology and Obstetrics, CIO ABCD, University Hospital Düsseldorf, Düsseldorf 40225, Germany.
Background: Circulating cell-free tumor DNA (ctDNA) provides a non-invasive approach for assessing somatic alterations. The German PRAEGNANT registry study aims to explore molecular biomarkers and investigate their integration into clinical practice. In this context, ctDNA testing was included to understand the motivations of clinicians to initiate testing, to identify somatic alterations, and to assess the clinical impact of the results obtained.
View Article and Find Full Text PDFOral Surg Oral Med Oral Pathol Oral Radiol
January 2025
Department of Oral Pathology and Microbiology, KLE VK Institute of Dental Sciences and Hospital, Constituent Unit of KLE Academy of Higher Education and Research, Belgaum, Karnataka India.
Objective: To synthesize literature regarding determination of ploidy status in cases of oral leukoplakia (OL) with the research question: Can DNA ploidy assess malignant transformation (MT) in OL cases?
Study Design: This systematic review was registered in PROSPERO (CRD42022340184). The PECO (Population, Exposure, Comparator, and Outcome) was patients with OL, aneuploidy, diploidy, and MT in OL. Literature search databases included Scopus, PubMed, and Google Scholar.
Stem Cells Dev
January 2025
Department of Molecular Design and Synthesis, Functional Biology Division, Gifu University Graduate School of Medicine, Gifu, Japan.
Direct conversion is an innovative new technology that involves the conversion of somatic cells to target cells without passing through a pluripotent state. Forced expression alone or in combination with transcription factors (TFs), which are critical for the generation of target cells, is important for successful direct conversion. However, most somatic cells are unable to directly convert into target cells even with forced expression.
View Article and Find Full Text PDFNPJ Parkinsons Dis
January 2025
Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.
Biallelic intronic pentanucleotide repeat expansions, mainly (AAGGG)exp and/or (ACAGG)exp in RFC1, are detected in cerebellar ataxia, neuropathy and vestibular areflexia syndrome, late-onset ataxia, and in a wide disease spectrum including Charcot-Marie-Tooth disease, multiple system atrophy, and Parkinson's disease (PD). However, the genotype-phenotype correlation and underlying mechanism are mostly unknown. We screened RFC1-repeat expansions in 1445 patients with parkinsonism.
View Article and Find Full Text PDFbioRxiv
January 2025
Else Kroener Fresenius Center for Digital Health, University of Technology Dresden, Dresden, Germany.
Background: Genomic data is essential for clinical decision-making in precision oncology. Bioinformatic algorithms are widely used to analyze next-generation sequencing (NGS) data, but they face two major challenges. First, these pipelines are highly complex, involving multiple steps and the integration of various tools.
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