Sökning: "NOTCH1"

Visar resultat 11 - 15 av 41 avhandlingar innehållade ordet NOTCH1.

  1. 11. Genomic and transcriptomic sequencing in chronic lymphocytic leukemia

    Författare :Diego Cortese; Richard Professor; Carlos López Otín; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; chronic; lymphocytic; leukemia; CLL; genomics; transcriptomics; DNA; RNA; mutations; NGS; whole-exome; sequencing; prognostic; markers; TP53; SF3B1; RPS15; relapse; stereotyped; subsets.;

    Sammanfattning : Identification of recurrent mutations through next-generation sequencing (NGS) has given us a deeper understanding of the molecular mechanisms involved in chronic lymphocytic leukemia (CLL) development and progression and provided novel means for risk assessment in this clinically heterogeneous disease. In paper I, we screened a population-based cohort of CLL patients (n=364) for TP53, NOTCH1, SF3B1, BIRC3 and MYD88 mutations using Sanger sequencing, and confirmed the negative prognostic impact of TP53, SF3B1 or NOTCH1 aberrations, though at lower frequencies compared to previous studies. LÄS MER

  3. 12. Molecular genetic studies on Chronic Lymphocytic Leukemia and Acute Myeloid Leukemia - with focus on prognostic markers

    Författare :Kerstin Willander; Peter Söderkvist; Mats Linderholm; Kourosh Lotfi; Sören Lehmann; Linköpings universitet; []
    Nyckelord :;

    Sammanfattning : The present thesis is focused on the prognostic value of genetic variations and alterations in the initiation and development of chronic lymphocytic leukemia (CLL) and acute myeloid leukemia (AML) patients. Several prognostic markers based on genetic or chromosomal aberrations are today used in clinic in these heterogeneous diseases. LÄS MER

  4. 13. A multifactorial approach to targeting signalling pathways in diabetic foot ulcers

    Författare :Sampath Kumar Narayanan; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Diabetic foot ulcers (DFU) are one of the most debilitating complication of diabetes that adversely impacts the health, economics and quality of life of the afflicted individual. The primary pathogenic factor of DFU is hyperglycemia, and its negative effects on normal signaling pathways is still being investigated. LÄS MER

  5. 14. Transcriptional networks in neuroblastoma and breast cancer

    Författare :Christina Manetopoulos; Institutionen för translationell medicin; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Medicin människa och djur ; Medicine human and vertebrates ; basic helix-loop-helix; Neuroblastoma; Breast cancer;

    Sammanfattning : Transcription factors of the basic Helix-loop-helix (bHLH) family of proteins are important regulators of cellular processes such as proliferation and differentiation. Many cancer diseases show a block in differentiation, and aberrant regulation of several bHLH factors have been implicated in the development of different malignancies. LÄS MER

  7. 15. Molecular mechanisms of the transcriptional co-activator mastermind-like 1

    Författare :Magnus L Hansson; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Gene regulation is a complex process that requires several types of proteins, including chromatin-modifying enzymes, transcription factors, co-activators and co-repressors. We have investigated the molecular mechanisms underlying the action of the co-activator protein MAML1, which was first identified as a transcriptional co-activator for Notch receptors. LÄS MER