Ring chromosomes are known in many eukaryotic organisms, including humans. They are typically associated with a variety of maladies, including abnormal development and lethality. Underlying these phenotypes are anaphase chromatin bridges that can lead to chromosome loss, nondisjunction and breakage.
View Article and Find Full Text PDFColorectal cancer (CRC) develops in part through the deregulation of different signaling pathways, including activation of the WNT/β-catenin and PI3K/AKT pathways. Additionally, the lysine methyltransferase enhancer of zeste homologue 2 (EZH2) is commonly overexpressed in CRC. EZH2 canonically represses gene transcription by trimethylating lysine 27 of histone H3, but also has non-histone substrates.
View Article and Find Full Text PDFColorectal cancer (CRC) develops in part through the deregulation of different signaling pathways, including activation of the WNT/β-catenin and PI3K/AKT pathways. Enhancer of zeste homolog 2 (EZH2) is a lysine methyltransferase that is involved in regulating stem cell development and differentiation and is overexpressed in CRC. However, depending on the study EZH2 has been found to be both positively and negatively correlated with the survival of CRC patients suggesting that EZH2's role in CRC may be context specific.
View Article and Find Full Text PDFBackground: Platinum based agents-cisplatin and carboplatin in combination with taxanes are used for the treatment of ovarian cancer (OC) patients. However, the majority of OC patients develop recurrent, platinum resistant disease that is uniformly fatal. Platinum treatment enriches for chemoresistant aldehyde dehydrogenase (ALDH) + ovarian cancer stem cells (OCSCs), which contribute to tumor recurrence and disease relapse.
View Article and Find Full Text PDFBackground & Objectives: This study aims to explore and elucidate parents' experience of newborn screening [NBS], with the overarching goal of identifying desiderata for the development of informatics-based educational and health management resources.
Methods: We conducted four focus groups and four one-on-one qualitative interviews with a total of 35 participants between March and September 2020. Participants were grouped into three types: parents who had received true positive newborn screening results; parents who had received false positive results; and soon-to-be parents who had no direct experience of the screening process.