Sökning: "joakim klar"

Hittade 4 avhandlingar innehållade orden joakim klar.

  1. 1. Positional Cloning of Disease Causing Genes : A Genetic Study of Obesity, Ichthyosis Prematurity Syndrome and Meniere's Disease

    Författare :Joakim Klar; Niklas Dahl; Catharina Larsson; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Positional cloning; Obesity; Ichthyosis; Meniere’s disease; RORa; PIK3C2G; Genetik; Clinical genetics; Klinisk genetik;

    Sammanfattning : Positional cloning is a method to identify genes from their position in the genome without prior knowledge about function. We used this approach to investigate the basis for three distinct genetic disorders; Obesity, Ichthyosis Prematurity Syndrome and Meniere's disease. LÄS MER

  3. 2. 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

  4. 3. Morphisms of real calculi from a geometric and algebraic perspective

    Författare :Axel Tiger Norkvist; Joakim Arnlind; Stefan Wagner; Linköpings universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; noncommutative geometry; embeddings; matrix algebras; real calculi; morphisms; free module; projective module;

    Sammanfattning : Noncommutative geometry has over the past four of decades grown into a rich field of study. Novel ideas and concepts are rapidly being developed, and a notable application of the theory outside of pure mathematics is quantum theory. LÄS MER

  5. 4. Oxidation, Creep and Fatigue Synergies in Cast Materials for Exhaust Manifolds

    Författare :Shengmei Xiang; Joakim Odqvist; Baohua Zhu; Stefan Jonsson; Johan Ahlström; KTH; []
    Nyckelord :TEKNIK OCH TEKNOLOGIER; ENGINEERING AND TECHNOLOGY; Fatigue; low-cycle fatigue; fatigue in an inert atmosphere; fatigue in a synthetic diesel exhaust atmosphere; corrosion-fatigue; creep-fatigue; high-temperature corrosion; high-temperature fatigue; synergistic effect; corrosion-fatigue synergy; creep-fatigue synergy; high-temperature alloys; fatigue damage; creep-fatigue damage; corrosion-fatigue damage; ductile cast iron; high-alloyed austenitic cast steel; thermal cycling; precipitation; aging.; Teknisk materialvetenskap; Materials Science and Engineering;

    Sammanfattning : The future development of engines of heavy-duty vehicles towards reduced CO2 emission will increase the exhaust gas temperature and render the exhaust atmosphere more corrosive. The current service material of exhaust gas components - a ferritic ductile cast iron called SiMo51 - will soon meet its upper-temperature limit. LÄS MER