Curr Rev Clin Exp Pharmacol
December 2024
Introduction: Genomic variations among individuals can greatly affect their responses to different medications. Pharmacogenomics is the area of study that aims to understand the relationship between these various genetic variations and subsequent drug responses. Many medications used to optimize cardiovascular health are affected by these genetic variants and these relationships can subsequently impact dosing strategies in patients.
View Article and Find Full Text PDFPatients with paradoxical low-flow low-gradient aortic stenosis pose a diagnostic challenge when it comes to assessing the severity of aortic stenosis (AS) noninvasively. We describe 2 patients who underwent exercise cardiac catheterization to augment their cardiac output and assess the severity of AS invasively to allow differentiation of true severe AS from pseudo-severe AS.
View Article and Find Full Text PDFCancer Rep (Hoboken)
September 2023
Background: FGFR2 genomic alterations are observed in 10-20% of cholangiocarcinoma (CCA). Although FGFR2 fusions are an important actionable target, FGFR2 protein expression has not been thoroughly characterized.
Aims: To evaluate FGFR2 protein expression in cholangiocarcinoma harboring FGFR2 genomic alterations.
The thymus is a primary lymphoid organ that plays an essential role in T lymphocyte maturation and selection during development of one arm of the mammalian adaptive immune response. Although transcriptional mechanisms have been well documented in thymocyte development, co-/post-transcriptional modifications are also important but have received less attention. Here we demonstrate that the RNA alternative splicing factor MBNL1, which is sequestered in nuclear RNA foci by C(C)UG microsatellite expansions in myotonic dystrophy (DM), is essential for normal thymus development and function.
View Article and Find Full Text PDFMyotonic dystrophy type 1 (DM1) is a CTG microsatellite expansion (CTG) disorder caused by expression of CUG RNAs. These mutant RNAs alter the activities of RNA processing factors, including MBNL proteins, leading to re-expression of fetal isoforms in adult tissues and DM1 pathology. While this pathogenesis model accounts for adult-onset disease, the molecular basis of congenital DM (CDM) is unknown.
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