Publications by authors named "Anna Cantor"
Article Synopsis
- VEXAS syndrome is a disease linked to variants in the UBA1 gene, leading to a variety of clinical symptoms that have been under-studied due to biases in patient selection.
- A study involving 163,096 participants aimed to identify the prevalence of UBA1 variants and associated clinical features, utilizing data from the Geisinger MyCode Community Health Initiative.
- Out of the participants, 11 individuals with pathogenic UBA1 variants were identified, all displaying symptoms of VEXAS syndrome, while 45% did not meet common diagnostic criteria but all exhibited anemia and related blood issues.
Article Synopsis
- VEXAS syndrome is an inflammatory disease caused by mutations in the UBA1 gene, leading to high mortality and varied clinical presentations.
- Researchers analyzed 83 patients and found that specific mutations, like p.Met41Val, are linked to worse survival outcomes, while ear chondritis is associated with better survival.
- The study suggests that lower translation of a certain UBA1 protein variant contributes to poor prognosis, highlighting the importance of understanding these mutations for disease management.
Despite improvements in the understanding of cancer causation, much remains unknown regarding the mechanisms by which genomic and non-genomic factors initiate carcinogenesis, drive cell invasion and metastasis, and enable cancer to develop. Technological advances have enabled the analysis of whole genomes, comprising thousands of tumours across populations worldwide, with the aim of identifying mutation signatures associated with particular tumour types. Large collaborative efforts have resulted in the identification and improved understanding of causal factors, and have shed light on new opportunities to prevent cancer.
View Article and Find Full Text PDFObjectives: Lynch syndrome (LS) accounts for the majority of inherited endometrial cancers (EC), and the identification of probands presents a unique opportunity to treat and prevent multiple cancers. The diagnosis of EC can provide the indication for women with specific risk factors to undergo genetic testing (GT). We sought to evaluate genetic counseling referrals (GCR) and subsequent GT rates in an ethnically diverse group of high-risk women.
View Article and Find Full Text PDFMental illness is a substantive issue for graduate students. We investigated experiences of mental illness during training among genetic counseling students, a subgroup of graduate students for which little data exists on this topic. Genetic counseling students and recent graduates ( = 227) completed an online survey, from who 11 were selected to participate in semi-structured telephone interviews.
View Article and Find Full Text PDFRepeated exposure to psychostimulants such as amphetamine (AMPH) disrupts cognitive and behavioral processes mediated by the medial prefrontal cortical (mPFC) and basolateral amygdala (BLA). The present study investigated the effects of repeated AMPH exposure on the neuromodulatory actions of dopamine (DA) on BLA-mPFC circuitry and cognitive/emotional processing mediated by these circuits. Rats received five AMPH (2 mg/kg) or saline injections (controls) over 10 d, followed by 2-4 week drug washout.
View Article and Find Full Text PDFFood restriction and deprivation are known to modulate drug-related behaviors. However, the mechanisms through which metabolic manipulations intercede the rewarding effects of drug reward are unknown. Neuropeptide Y (NPY) is thought to be critically involved in the regulation of energy balance.
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