Sökning: "natural mutations"

Visar resultat 6 - 10 av 445 avhandlingar innehållade orden natural mutations.

  1. 6. Cellular responses to combined irradiation with alpha particles and X-rays

    Författare :Alice Sollazzo; Andrzej Wojcik; Alexandros Georgakilas; Stockholms universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Radiation; DNA damage; mutations; alpha particles; X-rays; mixed beam; molekylär biovetenskap; Molecular Bioscience;

    Sammanfattning : Mixed radiation fields, where different ionizing particles act together, are very important in radiobiology and in radiation protection. Mixed beams are not only the most common form of radiation exposure, but the prediction of their biological effect is also full of uncertainties. LÄS MER

  3. 7. On the evolutionary effects of linkage and deleterious mutations in small populations

    Författare :Snæbjörn Pálsson; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Developmental biology; Breeding systems; Daphnia pulex; deleterious mutations; linkage; neutral variation; Utvecklingsbiologi; Developmental biology; Utvecklingsbiologi; Genetics; genetik;

    Sammanfattning : The aim of this thesis is to evaluate the effect of deleterious mutations and linkage on variation in neutral markers and fitness in small populations. The study is based on two main approaches, one by using computer simulations, the other by exploring genetic variation in a cyclical parthenogen, Daphnia pulex (Crustacea: Cladocera). LÄS MER

  4. 8. Surviving the ratchet : Modelling deleterious mutations in asexual populations

    Författare :Jonas Söderberg; Otto Berg; Laurence Loewe; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Theoretical biology; Population genetics; Stochastic modelling; Genome evolution; Muller s Ratchet; Genetics; Genetik; Organism biology; Organismbiologi; Biology; Biologi; Biologi med inriktning mot molekylär evolution; Biology with specialization in Molecular Evolution;

    Sammanfattning : One of the most unforgiving processes in nature is that of Muller's ratchet, a seemingly irreversible accumulation of deleterious mutations that all organisms have to deal with or face extinction. The most obvious way to avoid fitness collapse is recombination, though asexual populations usually do not have the luxury of recombining freely. LÄS MER

  5. 9. Somatic Mutations in Breast Cancer Genomes : Discovery and Validation of Breast Cancer Genes

    Författare :Xiang Jiao; Tobias Sjöblom; Anne-Lise Børresen-Dale; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; breast cancer; cancer gene; pathway; somatic mutation; structural alteration; sequencing; whole genome amplification; Genetics; Genetik; Medical Genetics; Medicinsk genetik;

    Sammanfattning : Breast cancer is the most common cancer in women worldwide. However, the genetic alterations that lead to breast cancer are not fully understood. This thesis aims to identify novel genes of potential mechanistic, diagnostic or therapeutic interest in breast cancers by mutational analysis and whole-genome sequencing. LÄS MER

  7. 10. Anaplastic Lymphoma Kinase mutations and downstream signalling

    Författare :Christina Schönherr; Ruth H Palmer; Aristidis Moustakas; Umeå universitet; []
    Nyckelord :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