Sökning: "genomik"

Visar resultat 16 - 20 av 78 avhandlingar innehållade ordet genomik.

  1. 16. 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. 17. Genetics of Two Mendelian Traits and Validation of Induced Pluripotent Stem Cell (iPSC) Technology for Disease Modeling

    Författare :Doroteya Raykova; Niklas Dahl; Ann Nordgren; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Disease modeling; Mendelian disorders; iPSC; Whole exome sequencing; Transcriptome sequencing; Medical Science; Medicinsk vetenskap;

    Sammanfattning : Novel technologies for genome analysis have provided almost unlimited opportunities to uncover structural gene variants behind human disorders. Whole exome sequencing (WES) is especially useful for understanding rare Mendelian conditions, because it reduces the requirements for a priori clinical data, and can be applied on a small number of patients. LÄS MER

  4. 18. Mitochondrial Genome Analysis Using Next Generation Sequencing for Forensic Applications

    Författare :Kimberly Sturk-Andreaggi; Marie Allen; Antti Sajantila; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Mitochondrial DNA; next generation sequencing; massively parallel sequencing; forensic genetics; nuclear mitochondrial DNA segment NUMT ; length heteroplasmy; haplogroup; quality control; population data; Biology with specialization in Molecular Biology; Biologi med inriktning mot molekylärbiologi;

    Sammanfattning : Mitochondrial DNA (mtDNA) analysis plays a specialized role in forensic applications, overcoming certain limitations of autosomal DNA markers. The high copy number and uniparental inheritance pattern of mtDNA are advantageous in cases involving shed hairs and aged skeletal elements, especially decades-old missing persons cases. LÄS MER

  5. 19. Translating Cardiac and Cardiometabolic GWAS Using Zebrafish

    Författare :Benedikt von der Heyde; Marcel den Hoed; Anastasia Emmanouilidou; Erik Ingelsson; Shawn Burgess; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; GWAS; Zebrafish; Medicinsk genetik; Medical Genetics;

    Sammanfattning : Genome-wide association studies (GWAS) have identified thousands of loci associated with cardiac and cardiometabolic traits. However, the trait-associated variants usually do not clearly point to causal gene(s), mechanism(s) or tissue(s). Model systems that allow for a comprehensive and quick candidate gene screening are necessary, ideally in vivo. LÄS MER

  7. 20. Adaptations and constraints associated with autotrophy in microbial metabolism

    Författare :Johannes Asplund Samuelsson; Elton P. Hudson; Adil Mardinoglu; Costas D. Maranas; KTH; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Autotrophy; Carbon fixation; CO2 fixation; Calvin cycle; CBB cycle; Bacteria; Archaea; Prokaryotes; Cyanobacteria; Synechocystis; E. coli; Comparative genomics; Metabolic engineering; Microbial metabolism; Machine learning; Systems biology; Ribosome profiling; Kinetic modeling; Enzyme kinetics; Metabolic models; Pathway enumeration; Biosynthesis pathways; Metabolomics; Metabolite concentrations; Thermodynamics; Autotrofi; Kolfixering; CO2-fixering; Calvincykeln; CBB-cykeln; Bakterier; Arkéer; Prokaryoter; Cyanobakterier; Synechocystis; E. coli; Jämförande genomik; Metabolisk ingenjörskonst; Mikrobiell metabolism; Maskininlärning; Systembiologi; Ribosomprofilering; Kinetisk modellering; Enzymkinetik; Metaboliska modeller; Syntesvägsuppräkning; Biosyntesvägar; Metabolomik; Metabolitkoncentrationer; Termodynamik; Bioteknologi; Biotechnology;

    Sammanfattning : Carbon dioxide (CO2) emissions from human activities are driving climate change, but the pending crisis could be mitigated by a circular carbon economy where released CO2 is recycled into commodity chemicals. Autotrophic microbes can make a contribution by producing chemicals, such as biofuels, from CO2 and renewable energy. LÄS MER