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 20 of 958 for “"allele"”.
-
Visualizing Allele Specific Expression In Single Cells
… cannot classify transcripts according to their allele of origin. In this thesis, we expand single molecule RNA FISH so that it can discriminate between single nucleotide differences on individual transcripts, enabling single cell allele specific expression. We derive an extensive statistical …
-
Allele-Specic QTL fine-mapping with PLASMA
We introduce PLASMA (PopuLation Allele-Specic MApping), a statistical ne- mapping method that leverages allele-specic (AS) genomic data to improve detection of quantitative trait loci (QTLs) with causal effects on molecular traits. In simulations, PLASMA accurately prioritizes causal QTL variants …
-
Characterization and expression of a novelglobulin1 null allele of maize
… is highly polymorphic and several protein size alleles as well as a null allele have been described and the molecular basis for the differences has been explained. This study extends the analysis of glb1 variants to further explore the nature of polymorphism at this locus.
-
The effects of histone acetylation on the maize allele PL1-blotched
… Pl1- Blotched gene of maize. Pl1-Blotched is a allele of the purple1 (pl1) gene, which encodes a transcription factor that activates synthesis of purple anthocyanin pigments. Pl1-Blotched is unusual in that it leads to variegated, rather than uniform, pigmentation. At the molecular level, this …
-
Mining common genetic Variants impacting on Allele-Specific Translation and cancer risk
… thesis identifies, validates, and investigates allele-specific differences in translation efficiency mediated by tranSNPs: genetic variants that influence mRNA translation. By leveraging RNA-seq data from total and polysomal RNA, a pipeline was developed to identify tranSNPs and validate their …
-
Characterization of a DFNB1 deletion allele in a Michigan kindred of German descent
Thesis (Ph. D.)--Michigan State University. Genetics, 2010
-
MUPrimer : a tool for finding allele specific PCR-primers for homologous gene sequences
… in the PCR. MUPrimer is a program to design allele-specific PCR primers that can discriminate among highly homologous gene sequences. The input target DNA includes of closely related sequences, making this software unique. User inputs include designating a master gene, primer positions, …
-
Molecular mechanisms controlling the expression of the HLA-Cw*06 psoriasis susceptibility allele
… unambiguously demonstrated that the HLA-Cw*0602 allele confers increased disease risk in a wide range of populations. In this context, the aim of this project was to investigate the impact of PSORS1 genetic variation on HLA-C transcription, with a particular focus on HLA-Cw*0602 expression. In …
-
A ‘bump-&-hole’ approach for engineering allele-selective inhibition of the BET bromodomains
… An ideal model for this engineered, allele-specific chemical genetic work is the BET family of bromodomains – 8 closely related, and structurally conserved, epigenetic acetyl-lysine reader domains that so far has defied single-bromodomain inhibition. The Alessio Ciulli lab has …
-
Genome-wide survey and analysis of allele-specific mRNA splicing in human and mouse
This dissertation aims to examine allele-specific splicing in human and mouse using publicly available datasets. Such datasets, which have been generated from multiple tissue sources and from individuals of diverse backgrounds, are rich and cheap reservoirs of transcript isoforms resulting from …
-
Unleashing the potential of liquid biopsy: allele-informed evaluation of plasma samples for cancer patients management
… sequencing panel covering ∼25 000 high minor allele frequency SNPs and tailored analytical solutions to enable allele-informed evaluation of patients’ tumor. The framework also implements ABEMUS, an ad-hoc computational procedure we specifically designed for cfDNA samples to accurately detect …
-
Genetic characterization of a dominant susceptible Rpp1 allele and analysis of quantitative resistance to Asian soybean rust
… molecular mechanism of this dominant susceptible allele of the Rpp1 locus. To achieve that, genomic sequences of the Rpp1 locus were cloned from the dominant susceptible line (DS), as well as two Rpp1-harboring soybean accessions PI561356 and PI594760B, revealing three NBS-LRR genes in each …
-
RNAi based allele-specific silencing of the disease-causing gene in black South African patients with SCA7
… Africa was considered. However, the wild-type allele of ataxin-7 is likely to be necessary for cellular function therefore a form of allele-specific silencing is required, such as a SNP linked to the mutation.
-
Identification of a suitable SNP for allele-specific silencing of the disease-causing gene in SCA1 patients in South Africa
… achieved between the wild-type and mutant alleles by targeting this SNP. This study has shown that RNAi may be developed as a beneficial therapeutic technique for a subset of SCA1 patients in South Africa.
-
Generation and Characterization of a Knock-In Allele of EKLF: Probing the in vivo Role of the Chromatin Remodeling Domain in Definitive Hematopoietic Cells
… <em>in vivo</em>, I have generated a knock-in allele of D221EKLF. Using the recombineering method, a lambda phage-based homolgous recombination method in <em>E. coli,</em> cDNA encoding theD221EKLF domain has been inserted into the endogenous initiation site, thus placing the mutant protein …
Page 1 of 48