Sökning: "Point mutations"

Visar resultat 1 - 5 av 213 avhandlingar innehållade orden Point mutations.

1. 1. p53 inactivation by point mutations and splice site mutations in human and mouse tumors

   Författare :Kristinn P Magnússon; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :p53; Burkitt Iymphoma; apoptosis; alternative splicing; mutation; ascites;

   Sammanfattning : The p53 tumor suppressor gene is frequently mutated in human tumors. p53 induces cell cycle arrest and/or apoptosis in response to cellular stress, such as DNA damage, hypoxia and certain activated oncogenes like c-myc. The status of p53 in Burkitt's Iymphoma (BL) cell lines was investigated. The majority of BL lines expressed mutated p53 protein. LÄS MER

3. 2. Pathogenetic Mechanisms in Soft Tissue Tumors

   Författare :Elsa Arbajian; Avdelningen för klinisk genetik; []
   Nyckelord :Soft tissue tumors; Sarcomas; Gene fusions; SNP array; Next generation sequencing; Haploidization; Point mutations;

   Sammanfattning : Soft tissue tumors (STT) constitute a heterogeneous group of tumors that arise in tissues of mesenchymal origin. They are currently classified according to morphology and resemblance to normal tissue into over 100 subtypes. LÄS MER

4. 3. Role of FLT3 in Acute Myeloid Leukemia: Molecular mechanisms and Therapeutic opportunities

   Författare :Sausan Moharram; Avdelningen för translationell cancerforskning; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; LEUKEMIA; AML; Mutations; FLT3; Signlaing;

   Sammanfattning : Acute myeloid leukemia (AML) is a highly heterogeneous blood disease which is characterized by different mutations and chromosomal rearrangements. Nearly 60% of genetic alterations have been found in AML patients involve in signaling pathways including signaling of tyrosine kinase receptor FLT3. LÄS MER

5. 4. Computational Methods for Calculation of Ligand-Receptor Binding Affinities Involving Protein and Nucleic Acid Complexes

   Författare :Martin Almlöf; Johan Åqvist; Chris Oostenbrink; Uppsala universitet; []
   Nyckelord :Theoretical chemistry; computer simulations; molecular dynamics; linear interaction energy; binding free energy; linear response; protein-protein interactions; structure-based design; point mutations; hot spots; solvation free energy; Teoretisk kemi;

   Sammanfattning : The ability to accurately predict binding free energies from computer simulations is an invaluable resource in understanding biochemical processes and drug action. Several methods based on microscopic molecular dynamics simulations exist, and in this thesis the validation, application, and development of the linear interaction energy (LIE) method is presented. LÄS MER

7. 5. Anaplastic Lymphoma Kinase mutations and downstream signalling

   Författare :Christina Schönherr; Ruth H Palmer; Aristidis Moustakas; Umeå universitet; []
   Nyckelord :NATURAL SCIENCES; NATURVETENSKAP; NATURVETENSKAP; NATURAL SCIENCES; Anaplastic Lymphoma Kinase; oncogene; RTK; neuroblastoma; crizotinib; NVP-TAE684; gain-of-function; MYCN; transcription factor; small GTPase; Rap1; C3G; PC12 cells; neurite outgrowth; molecular cell biology; molekylär cellbiologi;

   Sammanfattning : The oncogene Anaplastic Lymphoma Kinase (ALK) is a Receptor Tyrosine Kinase (RTK) and was initially discovered as the fusion protein NPM (nucleophosmin)-ALK in a subset of Anaplastic Large Cell Lymphomas (ALCL). Since then more fusion proteins have been identified in a variety of cancers. LÄS MER