3993 results for "*geneti*"

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• INTEGRATIVE MOLECULAR ANALYSIS OF SKIN TUMORS FROM CYLD CUTANEOUS SYNDROME PATIENTS

  CYLD cutaneous syndrome (CCS) is a rare autosomal dominant disorder characterized by germline CYLD mutations and by multiple benign skin tumors dependent on NF-kB pathway. We assembled a large cohort of CCS rare skin tumors that was profiled with whole exome or genome sequencing, RNA sequencing and methylation arrays to better understand genetic mechanisms of CCS tumorogenesis.

  Dataset EGAD50000000362

• Epigenetic and Transcriptomic profiling of hiPSC- and UCB-HSC derived CD4+CD8+ T progenitors

  Generation of T cell subsets from human induced pluripotent stem cells (hiPSCs) in defined in vitro systems could provide a valuable model to study the mechanisms of human T cell development in the thymus and serve as a scalable source for therapeutic cell products. We generated a unique DNA methylation (DNAmeth) and RNA-seq dataset of in vitro generated hiPSC-derived and umbilical cord blood (UCB-) derived T cell progenitor subsets from a feeder-free differentiaion system and integrated them with data from primary human thymocyte populations.

  Study EGAS50000001929

• Multi-omic signatures in multiple myeloma

  Multiple myeloma (MM) is a genetically and clinically heterogeneous plasma-cell malignancy. Quadruplet therapy, combining anti-CD38 antibodies, immunomodulatory drugs, proteasome inhibitors, and dexamethasone, is now the standard induction treatment for newly diagnosed multiple myeloma (NDMM). To gain a comprehensive view of molecular changes in MM and their association with treatment response in this new standard care, we performed a multi-omic study of 423 NDMM from the MIDAS trial.

  Study EGAS50000001573