Publications by authors named "J Conor O'shea"
Pathogenic heterozygous variants in CHD4 cause Sifrim-Hitz-Weiss syndrome, a neurodevelopmental disorder associated with brain anomalies, heart defects, macrocephaly, hypogonadism, and additional features with variable expressivity. Most individuals have non-recurrent missense variants, complicating variant interpretation. A few were reported with truncating variants, and their role in disease is unclear.
View Article and Find Full Text PDFSTAT5B is a vital transcription factor for lymphocytes. Here, function of two STAT5B mutations from human T cell leukemias: one substituting tyrosine 665 with phenylalanine (STAT5B ), the other with histidine (STAT5B ) was interrogated. modeling predicted divergent energetic effects on homodimerization with a range of pathogenicity.
View Article and Find Full Text PDFWhile inputs regulating CD4 T helper cell (Th) differentiation are well-defined, the integration of downstream signaling with transcriptional and epigenetic programs that define Th-lineage identity remain unresolved. PI3K signaling is a critical regulator of T cell function; activating mutations affecting PI3Kδ result in an immunodeficiency with multiple T cell defects. Using mice expressing activated-PI3Kδ, we found aberrant expression of proinflammatory Th1-signature genes under Th2-inducing conditions, both and .
View Article and Find Full Text PDFA variety of ZnCdS-based semiconductor nanoparticle heterostructures with extended exciton lifetimes were synthesized to enhance the efficacy of photocatalytic hydrogen production in water. Specifically, doped nanoparticles (NPs), as well as core/shell NPs with and without palladium and platinum co-catalysts, were solubilized into water using various methods to assess their efficacy for solar H fuel synthesis. The best results were obtained with low bandgap ZnCdS cores and ZnCdS/ZnS core/shell NPs with palladium co-catalysts.
View Article and Find Full Text PDFWith the increasing development of oral peptide dosage forms, a comprehensive understanding of factors affecting peptide drug stability in the solid-state is critical. This study used human insulin, as a model peptide, to examine the individual and interactive effects of temperature and humidity on its solid-state stability. Insulin was stored at temperature (25 °C, 40 °C, and 6 °C) and humidity (1 %, 33 % and 75 %) over 6 months.
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