Publications by authors named "C S Ernst"

Many genes in the human genome encode proteins that are dosage sensitive, meaning they require protein levels within a narrow range to properly execute function. To investigate if clinically relevant variation in protein levels impacts the same downstream pathways in human disease, we generated cell models of two SETBP1 syndromes: Schinzel-Giedion Syndrome (SGS) and SETBP1 haploinsufficiency disease (SHD), where SGS is caused by too much protein, and SHD is caused by not enough SETBP1. Using patient and sex-matched healthy first-degree relatives from both SGS and SHD SETBP1 cases, we assessed how SETBP1 protein dosage affects downstream pathways in human forebrain progenitor cells.

View Article and Find Full Text PDF

Up to 80% of children/adolescents with Graves' disease (GD) may require second-line treatment with either surgery or radioactive iodine (RAI) therapy after treatment with antithyroid drugs. These interventions aim to induce permanent hypothyroidism, but are not always successful. We aimed to evaluate the initial success rate (within the first year) of RAI treatment and its determining factors as second-line treatment in teenagers with GD.

View Article and Find Full Text PDF

The Europa Imaging System (EIS) consists of a Narrow-Angle Camera (NAC) and a Wide-Angle Camera (WAC) that are designed to work together to address high-priority science objectives regarding Europa's geology, composition, and the nature of its ice shell. EIS accommodates variable geometry and illumination during rapid, low-altitude flybys with both framing and pushbroom imaging capability using rapid-readout, 8-megapixel (4k × 2k) detectors. Color observations are acquired using pushbroom imaging with up to six broadband filters.

View Article and Find Full Text PDF

Bone metastases occur in the majority of advanced breast cancer patients, and the most common complications are osteolytic bone metastases. However, due to the limitations of models and methodologies for bone metastasis studies, the intricacies of bone metastasis have not been fully acknowledged and revealed in prior work. Our earlier study indicated that certain breast cancer cells undergo a pre-osteolytic stage before the establishment of overt metastatic lesions.

View Article and Find Full Text PDF