A5050377816- CAR-T cell therapy research
- Sarcoma Diagnosis and Treatment
- Virus-based gene therapy research
- Ubiquitin and proteasome pathways
- Congenital Ear and Nasal Anomalies
- interferon and immune responses
- RNA modifications and cancer
- Protein Tyrosine Phosphatases
- Congenital heart defects research
- Tracheal and airway disorders
- Craniofacial Disorders and Treatments
- Microtubule and mitosis dynamics
- Cancer-related Molecular Pathways
- Protein Degradation and Inhibitors
Duke University Hospital
2023-2025
Princess Margaret Cancer Centre
2023-2025
Duke University
2023-2024
Duke Medical Center
2023-2024
National Institute of Environmental Health Sciences
2023
University Health Network
2023
University of Toronto
2023
Enchondromas are common bone tumors composed of chondrocytes originating from growth plate cells which can progress to malignant chondrosarcoma. Mutations in the genes encoding isocitrate dehydrogenase (IDH1 and IDH2) identified a large proportion these tumors. IDH enzymes convert alpha-ketoglutarate (α-KG), an essential component citric acid cycle. While mutant produce 2-hydroxyglutarate, has epigenetic effects important tumor initiation, cell maintenance rely on additional factors. Prior...
Background: CIC::DUX4 Sarcoma (CDS) is driven by t(4;19) or t(10;19) chromosomal translocations and associated with high rates of metastasis, chemoresistance, poor outcomes. Previously classified as “Ewing-like sarcoma” due to overlapping morphological immunobiological features, CDS differs from Ewing sarcoma in several key aspects: it rarely arises bone, lacks the Ewing-defining ETS gene fusion, has a more aggressive clinical course. Despite recent reclassification World Health Organization...
SMCHD1 mutations cause congenital arhinia (absent nose) and a muscular dystrophy called FSHD2. In FSHD2, loss of repressive activity causes expression double homeobox 4 (DUX4) in muscle tissue, where it is toxic. Studies patients suggest primary defect nasal placode cells (human nose progenitors). Here, we show that upon ablation, DUX4 becomes derepressed H9 human embryonic stem (hESCs) as they differentiate toward cell fate, triggering death. Arhinia FSHD2 patient-derived induced...
Arhinia, or congenital absence of the nose, is an exceedingly rare anomaly caused by pathogenic variants in gene SMCHD1 . Arhinia exhibits unique reconstructive challenges, as midface deficient skeletal and soft tissue structures. The authors present 2 related patients with arhinia who harbor a novel variant illustrate their surgical nasal construction. Targeted sequencing was carried out on DNA samples from affected patients, 1 anosmic healthy parent, to identify exons 3 13 parent were...
Abstract CIC-DUX4 sarcoma (CDS) is a rare but highly aggressive undifferentiated small round cell driven by fusion between the tumor suppressor Capicua (CIC) and DUX4. Currently, there are no effective treatments efforts to identify translate better therapies limited scarcity of tissues patients. To address this limitation, we generated three genetically engineered mouse models CDS (Ch7CDS, Ai9CDS, TOPCDS). Remarkably, chimeric mice from all conditional developed spontaneous tumors...
Abstract CIC-DUX4 sarcoma (CDS) is a rare but highly aggressive undifferentiated small round cell driven by fusion between the tumor suppressor Capicua (CIC) and DUX4. Currently, there are no effective treatments efforts to identify translate better therapies limited scarcity of patient samples lines. To address this limitation, we generated three genetically engineered mouse models CDS (Ch7CDS, Ai9CDS, TOPCDS). Remarkably, chimeric mice from all conditional developed spontaneous tumors...