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 360 for “"germline"”.
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Germline mutation in rare disease
Germline mutation is the ultimate source of evolutionary change and disease-causing variants. Understanding the rates and patterns of human mutation can help us learn about their molecular origins, uncover our evolutionary history and improve our ability to identify the genetic causes of human …
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Genesis of the human germline
… with a transient reduction in OTX2 in the germline competent PreME against rising levels of EOMES. The OTX2 levels continue to increase in ME cells that gain competence for the mesoderm and endoderm fates but are incompetent for germ cell fate. Using the CRISPR toolkit, I further show that …
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Germline Genetic Modulator of Cancer Metastasis
… of cancer metastasis. In this thesis, I report a germline genetic driver of breast cancer metastasis, suggesting that germline genetic differences between individuals underlie distinct metastatic outcomes. I identified a common missense germline variant in PCSK9 (rs562556, V474I) that associates …
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Germline Genetic Determination of Cancer Outcome
… response to cancer is the genetic makeup of the germline. A thorough assessment of the role of germline genetics in melanoma outcome is lacking, partly because of the difficulty in assessing the vast number of genetic variants present in the human population. In this thesis, I describe the …
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Discovering GCNA: A Novel Regulator of Germline Genomic Stability
Germ cells transfer genetic information across generations. Any change in germ line DNA is inherited by succeeding generations. Therefore, germ cell DNA must be protected from both internal and external assault. An advantage of sexual reproduction stems from the ability to generate variation by …
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MicroRNA Expression Profiling of Multipotent Adult Germline Stem Cells
… pluripotent werden und als "multipotent adult germline stem cells" (maGSCs) bezeichnet werden. Vor einiger Zeit wurde eine Gruppe nicht codierender RNAs identifiziert, die sogenannte microRNAs (miRNAs), die eine Schlüsselrolle in der embryonalen Entwicklung und Pluripotenz von Embryonalen …
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Germline variants associated with alternative splicing in colonic mucosa
… expression in the colonic mucosa mediated by germline SNPs is one of the genetic mechanisms underpinning predisposition to CRC. The sQTLs identified herein could be further used in colocalisation analyses to fine-map GWAS causal variants, and in transcriptome wide association studies (TWAS) to …
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Identification of germline variants that predispose to familial melanoma
… association-linkage analysis. Disruptive germline variants that could play a role in familial melanoma development were identified in multiple genes through a combination of several approaches.
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Integrated data analytics of germline mutation classes in human cancers. An integrated bioinformatics analysis to investigate associations between germline mutation classes and human cancers.
… project was to investigate the impact of germline gene mutations, as a significant biological factor, on 29 major primary human cancers. For this I obtained data from multiple databases, including the Genetic Association Database (GAD), Sanger database (COSMIC), HGMD database, OMIM data …
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Germline and somatic mutational processes across the Tree of Life
… Ireland. I used DeepVariant and himut to call germline and somatic mutations, respectively, and identified germline and somatic mutational signatures not previously observed in human samples. The phylogenetic analysis of these novel mutational signatures, revealing mutational processes …
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Sperm sequencing reveals extensive positive selection in the human germline
… occur in reproductive cell lineages are known as germline mutations and have the potential to be transmitted to offspring. Germline mutations serve as the origin of all heritable genetic variation, making them crucial in the study of evolution and disease. The majority (~80%) of germline mutations …
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Responses to transposon activity and genome damage during germline development
The germline is the cell lineage that is responsible for the inheritance of genetic information in multicellular eukaryotes. In most animal species, germ cells are set aside from somatic lineages during early embryonic development and follow a unique developmental programme that culminates in the …
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Characterization of Factors Controlling Germline Stem Cell Maintenance in Drosophila Melanogaster
During Drosophila oogenesis, a germline stem cell (GSC) divides asymmetrically to produce a renewed stem cell and a differentiated daughter cystoblast (CB) that will progress through the 14 stages of oogenesis to produce a mature egg. A myriad of factors regulate GSC maintenance; extrinsic signals …
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Omics Approaches to Uncover Germline and Somatic Variation Underlying Inherited Sarcomagenesis
… LFSL families for rare, co-segregating, germline mutations, which identified a mutation <em>in ARHGAP30 </em>that was present in four LFSL families. Moreover, this mutation impacted both proliferation and migration when overexpressed <em>in vitro</em>. Subsequent analysis of publicly …
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Investigating the role of germline RNA helicase-1 in Caenorhabditis elegans
… UNIVERSITY OF MISSOURI AT AUTHOR'S REQUEST.] The germline specific RNA helicase GLH-1, a constitutive P-granule component, and DCR-1, the riboendonuclease responsible for processing small RNAs in the miRNA pathway, have been shown to be interdependent in the C. elegans germline. The work described …
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Germline development in Platynereis dumerilii and its connection to embryonic patterning
… I present evidence on the establishment of the germline and its correlation with pluripotency and embryonic patterning in the polychaete Platynereis dumerilii, an emerging model system that is well suitable for comparative developmental studies across Bilateria. In the first section, I describe …
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The prospects for human germline genetic modification: scientific and bioethical considerations
This thesis considers the prospects for human germline genetic modification (HGGM) via a synthesis of scientific and bioethical concepts. Eleven published scientific and philosophical papers form the basis for the thesis. The published work deals with the science, technology and wider implications …
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Mitochondrial genome engineering in the murine germline using designer nuclease technology
Mitochondria are subcellular organelles with numerous roles in metabolic and cellular pathways. Most notably, mitochondria produce ATP and energetic intermediates through oxidative phosphorylation (OXPHOS). Most of the approximately 1500 proteins needed for a fully functional mitochondrion are …
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The origin and consequences of mutational processes in the human germline
Mutational processes in the germline tissue can generate heritable genetic variation and have the potential to shape disease risk as well as species evolution. In this dissertation, by leveraging data from multiple sources, I explored three mutational processes in the human germline, each having …
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