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.
Results
Showing 1 to 8 of 8 for “"Disease variants"”.
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Uncovering Functional Alzheimer’s Disease Variants and Their Effector Genes through Single-Cell CRISPRi Screening and 3D Genomics
… studies (GWAS) have successfully linked variants to traits in complex human diseases, functional dissection of the discovered loci has lagged behind. We address this gap in the context of Alzheimer’s disease (AD) by performing variant-to-gene (V2G) mapping to implicate causal variants and …
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Systemic analysis of changes in protein modification and gene coexpression networks in cancer
… altered PTM landscapes on a large scale, disease-associated mutations from TCGA, Uniprot, and dbSNP were integrated with PTM sites from PhosphoSitePlus. We characterized each dataset individually, compared somatic with germline mutations, and analyzed PTM sites intersecting directly with …
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MOLECULAR DISSECTION OF CARDIOMYOPATHY
… frequently have fewer clinically actionable disease variants, overall. Two common lowly penetrant risk alleles (TNNT2:p.Arg286His and TNNI3:p.Arg79Cys) were enriched in Singapore HCM and reclassified based on new functional and populational evidences. It is expected to change the clinical …
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Structural retinal and visual cortex phenotyping and gene therapy in achromatopsia
… and nystagmus as core features of this disease. Variants in two genes, CNGA3 and CNGB3 are responsible for 70% of reported cases. Patient management currently centres on visual impairment certification, symptom alleviation and adaptation, with no curative options available. The last …
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Characterising the gene regulatory landscape of CD4+ T cells
Despite the high prevalence of immune-mediated diseases, the molecular mechanisms by which they arise and the influence of genetic variation in the predisposition to disease are not well understood. Immune susceptibility loci identified by genome wide association studies (GWAS) overlap with active …
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Functional characterisation of the human mitochondrial ATP-Mg/Pi carriers and their disease-causing variants
… and APC4, some of which have multiple splice variants. Recently, disease variants in APC1 and APC3b have been identified in patients with severe developmental disease or with kidney dysfunction, respectively. The biochemical properties of human paralogues APC2, APC3 and APC4 have not been …
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Elucidating the mechanistic impact of single nucleotide variants in model organisms
… cellular mechanism. Genetic variation can drive disease by altering a range of mechanisms, including signalling networks, TF binding, and protein folding. Understanding the impact of variants on such processes has key implications in therapeutics, drug development, and more. This thesis aims to …
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Functions of RNA exosome and tRNA splicing ligase in Mendelian and Infectious diseases
… tRNA splicing ligase in Mendelian and Infectious diseases</p> <p>Khondakar Sayef Ahammed, M.S.</p> <p>Advisory Professor: Ambro van Hoof, Ph.D.</p> <p><strong> </strong></p> <p>RNA maturation and degradation reactions are important for health and survival of all organisms. In humans, defects in …