Publications by authors named "Natalie L Ausborn"
Article Synopsis
- - Whole exome sequencing was used to find the genetic variant causing familial dilated cardiomyopathy in a large family, which is a heart condition with a genetic basis.
- - Researchers analyzed exome data from three affected family members, filtering for rare and significant variants, and eventually found a candidate mutation (c.1907 G>A) in the RBM20 gene.
- - The study concluded that this approach successfully identified a causal mutation without the traditional reliance on linkage analysis, emphasizing the effectiveness of whole exome sequencing in gene discovery for Mendelian diseases.
Objectives: The tumor-suppressor breast cancer susceptibility gene 1 (BRCA1) is a nuclear-cytoplasmic shuttling protein that when in the nucleus is required for DNA repair whereas when in the cytoplasm is important in activating cell death processes. Although BRCA1 mutations have been shown to be associated with an increased risk of pancreatic ductal adenocarcinoma (PDAC), its role in disease progression is yet to be determined. We hypothesized that BRCA1 expression pattern could be used as a prognostic biomarker.
View Article and Find Full Text PDFBackground: 53BP1 binds to the tumor suppressor p53 and has a key role in DNA damage response and repair. Low 53BP1 expression has been associated with decreased survival in breast cancer and has been shown to interact with several prognostic factors in non-small cell lung cancer. The role of 53BP1 in pancreatic ductal adenocarcinoma (PDAC) has yet to be determined.
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- Doctors use information about the stage of the cancer and the overall health of the patient to make treatment decisions for non-small cell lung cancer (NSCLC).
- Research is now focusing on finding specific markers in the cancer that can help choose the best targeted treatments instead of giving everyone the same medicine.
- By using these markers, doctors can better predict how well a patient will respond to a treatment, which can lead to better results and less side effects.
Idiopathic dilated cardiomyopathy (DCM) is a primary myocardial disorder characterized by ventricular chamber enlargement and systolic dysfunction. Twenty to fifty percent of idiopathic DCM cases are thought to have a genetic cause. Of more than 30 genes known to be associated with DCM, rare variants in the and genes have been reported in several cases of DCM.
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