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 20 of 596 for “"loss-of-function"”.
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Delayed Loss of Function Due to Brain Lesion
… in DSpace on 2014-12-03T23:50:47Z (GMT). No. of bitstreams: 1 0015217.pdf: 3569009 bytes, checksum: f497a101e2084c50cbad971dd031354c (MD5) Previous issue date: 1955
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Pericyte deficiencies in a foxf2 loss of function mutant
… but are not widely studied in the context of cerebral small vessel disease, a vascular condition related to stroke that progressively weakens brain microvessels. Foxf2, a pericyte-expressed gene, is involved in vascular stability and reduced FOXF2 is associated with increased stroke risk …
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UNDERSTANDING THE INFLUENCE OF TDP-43 LOSS-OF-FUNCTION ON NEUROTROPHIN SIGNALLING
… role in ALS and FTD, where it translocates out of the nucleus resulting in the loss of DNA/RNA regulatory functions. We found that TDP-43 knockdown, mutation and aggregation in neurons affects the proper splicing of the receptor Sortilin resulting in the generation of a soluble isoform. Sortilin …
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Detection of Genes Influencing Chronic and Mendelian Disease Via Loss-of-Function Variation
<p>A typical human exome harbors dozens of loss-of-function (LOF) variants predicted to severely disrupt or abolish gene function. These variants are enriched at the extremely rare end of the allele frequency spectrum (< 0.1%), suggesting purifying selection against these sites. However, most …
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Sodium Channel Loss of Function Sensitizes Conduction to Changes in Extracellular Sodium Concentration
… in cardiac conduction, particularly the slowing of conduction velocity is one major factor in arrhythmogenesis. By understanding the mechanisms and factors that modulate cardiac conduction velocity, we can assess and perhaps mitigate the risk of arrhythmia in patients for whom slowed conduction …
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Studying the Effect of TBX4 Loss-of-Function on Postnatal Lung Development and How it Predisposes to Pulmonary Hypertension
… (PH) describes a heterogeneous group of pulmonary and cardiovascular disorders and is estimated to affect 1% of the global population. The World Symposium on Pulmonary Hypertension divides patients into a five-tier classification system based on etiology and clinical findings with the …
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Loss of function of Gene X protects against α-dicarbonyl stress through the skn-1 pathway in C. elegans
… in prevalence worldwide. One potential cause of these diseases is the accumulation of advanced glycation end products (AGEs), which are macromolecules that cause irreversible damages. AGEs are a diverse group of highly oxidative byproducts produced from α-dicarbonyl compounds (α-dcs), which …
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Influence of Loss of Function of the Fatty Acid Desaturase 7 Gene on Photosynthetic Activity and Foliar Redox Status
… acids to trienoic fatty acids. The suppressor of prosystemin-mediated response2 (spr2) mutant in tomato (Solanum lycopersicum) and the fad7-1 mutant in Arabidopsis (Arabidopsis thaliana) result in the loss of function of FAD7, which alter the fatty acid profiles of chloroplast membranes and …
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Molecular Characterization and Loss-of-Function Analysis of an Arabidopsis thaliana Gene Encoding a Phospholipid-Specific Inositol Polyphosphate 5-Phosphatase
… cases serve to terminate the signaling actions of phosphoinositides. The inositol polyphosphate 5-phosphatases (5PTases) comprise a large protein family that hydrolyzes 5-phosphates from a variety of inositol phosphate and phosphoinositide substrates. I have examined the substrate specificity of …
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Modelling the effect of loss of function CREBBP mutations in the evolution and treatment of B cell acute lymphoblastic leukaemia (B-ALL)
… leukaemia (B-ALL) pathogenesis and the use of novel treatments, there are still some subtypes classified as high-risk patients and many other who relapse. In this thesis I seek to understand the role of CREBBP mutations in the context of B-ALL. These mutations are conserved among different …
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Characterization of mice with mutations disrupting binding of a transcriptional repressor of insulin-like growth factor 2 and loss-of-function mutation of myostatin
Submission original under an indefinite embargo labeled 'Open Access'. The submission was exported from vireo on 2023-04-12 without embargo terms
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CONTRIBUTIONS OF THE 3' HOX GENES, HOXA1, HOXB1, AND HOXB2, TO PATTERNING OF THE AXIAL SKELETON DURING DEVELOPMENT
… vertebral development, we analyzed the skeletons of 18.5dpc Hoxa1, Hoxb1, and Hoxb2 loss-of-function single and double mutant embryos. Our analysis reveals that loss of Hoxb1 and Hoxb2 function leads to multiple homeotic transformations along the vertebral column. The dosages of both HoxB genes …
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Examining the Regulation and Function of Cancer Testis Antigens
Cancer Testis Antigens (CTAs) are a class of genes whose expression is generally restricted to the testis, but are reactivated in cancer cells. The function and regulation of many CTAs are unknown, however several CTAs have been shown to impact tumor cell fitness and correlate with poor prognosis. …
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The role of the transcription factor JAGGED in early floral organogenesis
Initiation of organ primordia from pools of undifferentiated cells requires coordinated cytoplasmic growth, oriented cell wall extension, and cell cycle progression. It is debated which of these processes are primary drivers for organ morphogenesis and directly targeted by developmental regulators. …
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Transcriptional Regulation of kal-1 in the Nematode Caenorhabditis elegans
… (KS) is a genetic disease that is caused by loss-of-function mutations in the human <em>kal-1</em> gene. The disorder consists of a loss of sense-of-smell coupled with failure to undergo spontaneous puberty. At the cellular level, KS phenotypes are caused by olfactory neurons’ failure to …
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Investigating the Role of the IP₃ Signalling Pathway in RNA Interference in C. elegans
… processes with fundamental roles in animal cell function. In the nematode C. elegans these two pathways have been shown to intersect such that IP₃ signalling mutants display an altered exogenous RNAi response. IP₃ is a key second messenger in the transduction of intracellular signals. Produced by …
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Scaffold-Mediated Organization of Signal Transduction Networks
… stimuli. Given the ubiquitous nature of this signaling pathway, it is not clear how specialization with respect to various Raf-dependent phenomena is acquired. In theory, functional specificity could be achieved by selectively coupling the core enzymatic components of a cascade to …
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The Loss of Methanol Utilization in Methylobacteria
… for multiple generations and tested for loss of function on a series of generations. These tests include streaking plates of MOM and R2A with bacteria from MR2A3 then getting a bacterial colony count and also toothpick transfers of the colonies to verify findings. After 20 generations …
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