Nationales Centrum für Tumorerkrankungen Dresden

Minigene-based characterization and classification of splice-associated variants in succinate dehydrogenase B

Abstract Pathogenic germline variants in SDHB are associated with an increased risk for tumors such as pheochromocytoma and paraganglioma. However, limited functional evidence for rare variants poses a major challenge for clinical decision making. To systematically investigate po...

A pancreatic cancer organoid-macrophage co-culture using starPEG-heparin hydrogel deciphers tumor-immune cell interactions

Abstract Macrophages are among the most abundant immune cells in the pancreatic ductal adenocarcinoma (PDAC) tumor microenvironment (TME) and play a key role in regulating the immunosuppressive niche that facilitates tumor growth. Although recent three-dimensional (3D) culture sy...

Beyond in silico prediction: multi-omics to identify a pathogenic deep intronic HNRNPK variant in Au-Kline syndrome

Abstract Pathogenic variants in HNRNPK are associated with autosomal dominant Au-Kline syndrome (AKS, Au-Kline-Okamoto syndrome, OMIM #616580). This syndrome is characterized by developmental delay and intellectual disability, hypotonia, and distinctive facial features. Despite t...

Systemic Metabolic Changes in Plasma of Patients with Myelodysplastic Neoplasms and Chronic Myelomonocytic Leukemia

Background: Myelodysplastic neoplasms (MDSs) are clonal hematopoietic stem cell disorders associated with ineffective hematopoiesis, chronic inflammation, and increased cardiovascular morbidity. Although metabolic dysregulation has been implicated in MDS pathogenesis, systemic me...