Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 11 of 11 for “"severe combined immunodeficiency"”.
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Characterization of the genetic defects in patients with Severe Combined Immunodeficiency (SCID)
A specialised clinic for the diagnosis of primary immunodeficiency diseases was established at the Red Cross War Memorial Children's Hospital (RXH) in 1982. The patient load was significant as clinic records indicated that 122 primary immunodeficiency cases were diagnosed on clinical and laboratory …
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Development and Validation of Quantitative PCR Assays for DNA-Based Newborn Screening of 22q11.2 Deletion Syndrome, Spinal Muscular Atrophy, Severe Combined Immunodeficiency and Congenital Cytomegalovirus Infection
… syndrome and Spinal Muscular Atrophy (SMA), Severe Combined Immunodeficiency (SCID) and Congenital Cytomegalovirus (CMV), are potential candidates for inclusion to the newborn screening panel within the next few years. The major focus of this study was to determine whether 5’-hydrolysis …
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S-Acylation Is A Key Regulator of Orai1/Stim1-Mediated Store-Operated Calcium Entry In T Cells
… caused by dysfunctional CRAC channels, such as severe combined immunodeficiency and Störmorken syndrome.</p>
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Nuclease-Mediated Targeted Gene Insertion at the Adenosine Deaminase Locus in Primary Cells
… therapy clinical trial was for a patient with severe combined immunodeficiency (SCID) due to adenosine deaminase (ADA) deficiency. Initial trials looked promising and the technique was extended to other forms of primary immunodeficiency. Unfortunately, some of the patients enrolled in these …
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Development of a Human Immune System from Hematopoietic Stem Cells in a Human/Mouse Xenogeneic Model
… syndrome and individuals infected with the human immunodeficiency virus are highly susceptible to infections and cancers. The lack of adequate in vivo models of T cell neogenesis has hindered the development and clinical implementation of effective therapeutic modalities aimed at treating these …
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Mutational Analysis of CD127 and Its Role in Immunological Diseases
… mutations of CD127: P132S associated with severe combined immunodeficiency; L242_L243insNPC associated with T-cell acute lymphoblastic leukemia; I356V & T244I associated with autoimmune diseases like multiple sclerosis, rheumatoid arthritis and type 1 diabetes. In developing my model, I …
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Pathogenesis, immunity, and prevention of human norovirus infection in gnotobiotic pigs
… generated by CRISPR/Cas9 system, with confirmed severe combined immunodeficiency, I evaluated the effects of host immune responses on HuNoV infection. Compared to wild-type Gn pigs, longer HuNoV shedding was observed in RAG2/IL2RG deficient pigs (16 versus 27 days), and higher HuNoV titers were …
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The Role of Multi-Drug Resistance Associated Protein 4 and P-glycoprotein in Resistance of Neuroblastoma to Topotecan and Irinotecan
… subsequently transplanted as xenografts into severe combined immunodeficiency (SCID) mice to determine the effect of MRP4 expression on the <em>in vivo</em> response to topotecan. Unexpectedly, MRP4 silencing did not persist <em>in vivo</em>, and none of the xenograft models responded to …
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TDiscovery and Development of Novel Therapeutic Agents for Advanced Melanoma
… allograft and on double homozygous SCID (severe combined immunodeficiency) hairless outbred (SHO) mice or athymic nude mice bearing A375 human melanoma xenograft showed these two classes of compounds significantly inhibited melanoma tumor growth. Some compounds even showed substantially …