Publications by authors named "Julia A Sobotka"
Article Synopsis
- People with Li-Fraumeni syndrome (LFS) have a near 100% chance of developing cancer due to a mutation in the TP53 gene and undergo regular cancer screening.
- A new liquid biopsy test combining various sequencing techniques was tested on 89 LFS patients, showing improved cancer detection rates compared to traditional methods.
- This integrated testing approach demonstrated earlier detection of cancer signals, highlighting its potential as a valuable tool in patient care, although further validation is needed before widespread use.
Article Synopsis
- At least 5% of cancer diagnoses are linked to hereditary cancer syndromes (HCS), leading to lifelong monitoring and anxiety for those affected.
- The CHARM Consortium was established in 2017 by genetics centers in Canada to explore the clinical validity of cell-free DNA (cfDNA) sequencing as a non-invasive cancer monitoring method for individuals with HCS.
- The consortium aims to shift cancer surveillance strategies towards more accessible and frequent monitoring, leveraging early detection opportunities identified through their research on commonly characterized HCSs like hereditary breast and ovarian cancer and Lynch syndrome.
Proper regulation of germline gene expression is essential for fertility and maintaining species integrity. In the germline, a diverse repertoire of regulatory pathways promote the expression of endogenous germline genes and limit the expression of deleterious transcripts to maintain genome homeostasis. Here we show that the conserved TRIM-NHL protein, NHL-2, plays an essential role in the germline, modulating germline chromatin and meiotic chromosome organization.
View Article and Find Full Text PDFProper regulation of the germline transcriptome is essential for fertility. In C. elegans, germline homeostasis hinges on a complex repertoire of both silencing and activating small RNA pathways, along with RNA processing.
View Article and Find Full Text PDFExamining the intersection between splicing, nuclear export and small RNA pathways.
Biochim Biophys Acta Gen Subj
November 2017
Background: Nuclear Argonaute/small RNA pathways in a variety of eukaryotic species are generally known to regulate gene expression via chromatin modulation and transcription attenuation in a process known as transcriptional gene silencing (TGS). However, recent data, including genetic screens, phylogenetic profiling, and molecular mechanistic studies, also point to a novel and emerging intersection between the splicing and nuclear export machinery with nuclear Argonaute/small RNA pathways in many organisms.
Scope Of Review: In this review, we summarize the field's current understanding regarding the relationship between splicing, export and small RNA pathways, and consider the biological implications for coordinated regulation of transcripts by these pathways.
A characteristic of eusocial bees is a reproductive division of labor in which one or a few queens monopolize reproduction, while her worker daughters take on reproductively altruistic roles within the colony. The evolution of worker reproductive altruism involves indirect selection for the coordinated expression of genes that regulate personal reproduction, but evidence for this type of selection remains elusive. In this study, we tested whether genes coexpressed under queen-induced worker sterility show evidence of adaptive organization within a model brain transcriptional regulatory network (TRN).
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