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Visar resultat 1 - 5 av 41 avhandlingar som matchar ovanstående sökkriterier.

1. 1. Osteogenesis Imperfecta : Genetic and Therapeutic Studies

   Författare :Katarina Lindahl; Östen Ljunggren; Andreas Kindmark; Carl-Johan Rubin; David Sillence; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; OI; BMD; Genotype; Phenotype; Pharmaco-genetics; Bisphosphonate; Therapy; Gene-therapy; Mutation; Collagen; Collagen type I; Allele-specific silencing; siRNA; RNAi; COL1A1; COL1A2; Stroke; C-propeptide; Mineralization; Heterozygous disadvantage; Genetics; Genetik; Medicin; Medicine; Medical Genetics; Medicinsk genetik;

   Sammanfattning : Osteogenesis imperfecta (OI) is a heterogeneous disease of connective tissue, the cardinal symptom being fractures and severity ranging from mild to lethal. Dominant mutations in collagen I, encoded by COL1A1 and COL1A2, cause >90% of cases. LÄS MER

3. 2. Chimeric gene delivery vectors : Design, synthesis, and mechanisms from transcriptomics analysis

   Författare :Moataz Dowaidar; Ülo Langel; Sandrine Sagan; Stockholms universitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Cell-penetrating peptides; magnetic nanoparticles; graphene oxide; autophagy; siRNA; SCO; QSAR; neurokemi med molekylär neurobiologi; Neurochemistry with Molecular Neurobiology;

   Sammanfattning : Delivery of nucleic acid is a promising approach for genetic diseases/disorders. However, gene therapy using oligonucleotides (ONs) suffers from low transfection efficacy due to negative charges, weak cellular permeability, and enzymatic degradation. LÄS MER

4. 3. Molecular determinants of disease severity in urinary tract infection

   Författare :Ines Ambite; immunologi och glykobiologi - MIG Avdelningen för mikrobiologi; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Asymptomatic bacteriuria; urinary tract infection; acute pyelonephritis; cystitis; Escherichia coli 83972; host response; NlpD; RNA Polymerase II; transcription regulation; inflammasome; Il-1β; ASC; NLRP-3; hyper-inflammatory disorder; MMP-7; IL-1RA; genetic susceptibility; IRF-7; siRNA therapy; P fimbriae; type 1 fimbriae;

   Sammanfattning : In the urinary tract, Escherichia coli infection may result in life-threatening disease, or asymptomatic bacterial carriage, comparable to bacterial commensalism in the gut. Pathogenic strains trigger a disease provoking host response which differs depending on the infected organ. LÄS MER

5. 4. The role of autophagy in anticancer therapy

   Författare :Matheus Dyczynski; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : Autophagy is a fundamental catabolic process, which is utilized by nearly every cell and tissue type upon stress exposure and has been shown to contribute to resistance to chemotherapy in a variety of cancers. The subject of this thesis is to shed light on the role of autophagy in chemotherapy and to investigate novel regulators of autophagy. LÄS MER

7. 5. Cell-penetrating peptides; chemical modification, mechanism of uptake and formulation development

   Författare :Kariem Ezzat; Ülo Langel; Steven Dowdy; Stockholms universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; cell penetrating peptides; gene therapy; scavenger receptors; pharmaceutical formulation; solid dispersion; neurokemi med molekylär neurobiologi; Neurochemistry with Molecular Neurobiology;

   Sammanfattning : Gene therapy holds the promise of revolutionizing the way we treat diseases. By using recombinant DNA and oligonucleotides (ONs), gene functions can be restored, altered or silenced according to the therapeutic need. LÄS MER