Sökning: "medical gene technology"

Visar resultat 31 - 35 av 120 avhandlingar innehållade orden medical gene technology.

  1. 31. Advanced Genomic Tools in Translational Research of Neurodevelopmental Disorders

    Författare :Josefin Johansson; Maria Wilbe; Joris Vermeesch; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; neurodevelopmental disorders; translational research; advanced genomic technologies; Medicinsk genetik; Medical Genetics;

    Sammanfattning : Neurodevelopmental disorders (NDDs) affect >4.7% of individuals world-wide. Most cases are expected to have an underlying genetic cause. However, only 36–40% of those affected get a genetic diagnosis through exome sequencing. LÄS MER

  3. 32. Characterization of the DNA-Binding Properties of the Cyanobacterial Transcription Factor NtcA

    Författare :Susanne Wisén; Bengt Mannervik; Enrique Flores; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Biochemistry; NtcA; transcription regulation; cyanobacteria; redox regulation; DNA binding; nitrogen fixation; Anabaena PCC 7120; Biokemi; Biochemistry; Biokemi;

    Sammanfattning : Nitrogen is an essential building block of proteins and nucleic acids and, therefore, crucial for the biosphere. Nearly 79 % of the air consists of nitrogen, but in the form of nitrogen gas (N2), which cannot be utilized by most organisms. LÄS MER

  4. 33. Modulating Enzyme Functions by Semi-Rational Redesign and Chemical Modifications : A Study on Mu-class Glutathione Transferases

    Författare :Malena A Norrgård; Bengt Mannervik; Birgitta Tomkinson; Timothy Mantle; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; protein redesign; semi-rational redesign; saturation mutagenesis; iterative saturation mutagenesis; chemical modification; Cys; Cys-X scanning; enzyme evolution; promiscuous; substrate selectivity; enantioselectivity; Biochemistry; Biokemi; Biokemi; Biochemistry;

    Sammanfattning : Today, enzymes are extensively used for many industrial applications, this includes bulk and fine-chemical synthesis, pharmaceuticals and consumer products. Though Nature has perfected enzymes for many millions of years, they seldom reach industrial performance targets. LÄS MER

  5. 34. Computational biology of blood disorders: Patterns and algorithms

    Författare :Björn Nilsson; Institutionen för laboratoriemedicin; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Clinical genetics; Klinisk genetik; Image analysis; Ontological analysis; Pattern recognition; Gene expression profiling; Microarrays; Hematologic malignancies; Acute leukemia; Chronic myeloid leukemia;

    Sammanfattning : The morphological and molecular characterization and of malignant blood disorders is pivotal to ensure a correct diagnosis, guide therapy, and, in the longer term, to identify their molecular causes. Over the past several years, new technology has increased our abilities to describe, typecast, and understand hematologic malignancies beyond what was previously possible. LÄS MER

  7. 35. Proteomic strategies for blood biomarker development in rare dystrophinopathies

    Författare :Camilla Johansson; Cristina Al-Khalili Szigyarto; Ola Söderberg; KTH; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Duchenne muscular dystrophy; Becker muscular dystrophy; proteomics; affinity-proteomics; biomarkers; DIA-MS; SRM-MS; immunoassay; suspension bead arrays; Duchenne muskeldystrofi; Becker muskeldystrofi; proteomik; affinitetsproteomik; biomarkörer; DIA-MS; SRM-MS; immunoassay; suspension bead array; Biotechnology; Bioteknologi;

    Sammanfattning : Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are two rare genetic disorders of the family dystrophinopathy. They are both caused by the lack of, or reduced production of, the protein dystrophin. LÄS MER