Sökning: "Dravet syndrome"

Hittade 2 avhandlingar innehållade orden Dravet syndrome.

  1. 1. Induced pluripotent stem cell (iPSC) modelling for the identification of mechanisms behind neurodevelopmental disorders

    Författare :Loora Laan; Niklas Dahl; Jens Schuster; Joakim Klar; Anna Falk; Jared Sterneckert; Uppsala universitet; []
    Nyckelord :Induced pluripotent stem cells; Neurogenesis; Neural differentiation; Down syndrome; Dravet syndrome; Ataxia; Medical Cell Biology; Medicinsk cellbiologi;

    Sammanfattning : Human induced pluripotent stem cells (iPSCs) have opened new possibilities to recapitulate disease mechanisms and to model disorders in vitro. In the studies presented here, iPSCs were established to model neural differentiation in Down syndrome (DS), caused by trisomy for chromosome 21 (T21); Dravet syndrome (DRS), caused by variants in the SCN1A gene; and an ataxia syndrome, caused by a variant in the NFASC gene. LÄS MER

  3. 2. Integrative Modeling of Epigenetic Regulation in Human Disease

    Författare :Xi Lu; Xingqi Chen; Chandrasekhar Kanduri; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Glioblastoma; Cross-species; Glioblastoma stem cell; Dravet syndrome; ATAC-seq; Single-cell multi-omics technology;

    Sammanfattning : Glioblastoma is the most common and aggressive primary brain tumor. Standard of treatment prove ineffective, leading to tumor recurrence and an average survival rate of 14 months. This treatment resistance is attributed to both inter-tumor and intra-tumor heterogeneity observed across diverse tumor samples and within individual cells. LÄS MER