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Background: Mitosis maintains a genome's genetic information in daughter cells by accurately segregating chromosomes. However, chromosome aberrations are common during early mammalian embryogenesis. Chromosomal abnormalities during the early stages of embryogenesis result in the formation of mosaic embryos, wherein cells with normal genomes coexist with cells exhibiting abnormal genomes.
View Article and Find Full Text PDFMotif distribution and DNA methylation underlie distinct Cdx2 binding during development and homeostasis.
Nat Commun
January 2025
Department of Stem Cell Biology and Regenerative Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Transcription factors guide tissue development by binding to developmental stage-specific targets and establishing an appropriate enhancer landscape. In turn, DNA and chromatin modifications direct the genomic binding of transcription factors. However, how transcription factors navigate chromatin features to selectively bind a small subset of all the possible genomic target loci remains poorly understood.
View Article and Find Full Text PDFArtificial intelligence and machine learning in cell-free-DNA-based diagnostics.
Genome Res
January 2025
Center for Novostics, Hong Kong Science Park, Pak Shek Kok, New Territories, Hong Kong SAR, China;
The discovery of circulating fetal and tumor cell-free DNA (cfDNA) molecules in plasma has opened up tremendous opportunities in noninvasive diagnostics such as the detection of fetal chromosomal aneuploidies and cancers and in posttransplantation monitoring. The advent of high-throughput sequencing technologies makes it possible to scrutinize the characteristics of cfDNA molecules, opening up the fields of cfDNA genetics, epigenetics, transcriptomics, and fragmentomics, providing a plethora of biomarkers. Machine learning (ML) and/or artificial intelligence (AI) technologies that are known for their ability to integrate high-dimensional features have recently been applied to the field of liquid biopsy.
View Article and Find Full Text PDFCharacterizing executive functioning and associated behaviors in individuals with dual-specificity tyrosine phosphorylation-regulated kinase 1A () syndrome.
Front Neurosci
January 2025
Department of Psychiatry and Behavioral Sciences, University of Washington School of Medicine, Seattle, WA, United States.
Introduction: , a protein kinase located on human chromosome 21, plays a role in postembryonic neuronal development and degeneration. Alterations to have been consistently associated with cognitive functioning and neurodevelopmental disorders (e.g.
View Article and Find Full Text PDFDetection of cervical precancerous lesions and cancer by small-scale RT-qPCR analysis of oppositely deregulated mRNAs pairs in cytological smears.
Front Oncol
January 2025
AO Vector-Best, Novosibirsk, Russia.
Background: Cervical screening, aimed at detecting precancerous lesions and preventing cancer, is based on cytology and HPV testing. Both methods have limitations, the main ones being the variable diagnostic sensitivity of cytology and the moderate specificity of HPV testing. Various molecular biomarkers are proposed in recent years to improve cervical cancer management, including a number of mRNAs encoded by human genes involved in carcinogenesis.
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