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Showing 1 to 20 of 120 for “"monogenic"”.
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Monogenic diabetes in large population settings
… to utilise large population cohorts to analyse monogenic diabetes. This will involve gene discovery searching for novel disease genes and variants, assessing the penetrance and comorbidities risk in carriers of pathogenic monogenic diabetes variants, and studying disease prevalence in the …
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Monogenic, multigenic, and polygenic determinants of cancer risk
… for a series of genetic possibilities: monogenic, multigenic, and polygenic, are provided. It is expected that technology will be developed to identify and enumerate rare inherited alleles in large general and cancer proband populations.
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Modeling Monogenic Diabetes Mody3 Using Human Pluripotent Stem Cells
Understanding monogenic diabetes has been challenging due to the lack of human model but also because mouse models do not recapitulate the disease. Here, we use human pluripotent stem cells (ESCs) and CRISPR-CAS9 (Clustered Regularly Interspaced Short Palindromic Repeat)/Cas9) nucleases to …
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Expression of Monogenic Chlorotic-Lesion Resistance in Corn to Helminthosporium Maydis
Made available in DSpace on 2014-12-10T23:32:49Z (GMT). No. of bitstreams: 1 7511808.pdf: 1178290 bytes, checksum: 0c74a0f79602f057d4909d8c2e8086a2 (MD5) Previous issue date: 1974
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Applications of Riesz Transforms and Monogenic Wavelet Frames in Imaging and Image Processing
… dem Titel 'Applications of Riesz Transforms and Monogenic Wavelet Frames in Imaging and Image Processing' beschäftigt sich mit modernen Verfahren der Signalverarbeitung in der Bildgebung sowie in der Bildverarbeitung. Hierzu werden Riesz-Transformationen und translationsinvariante Wavelet Frames …
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3D KIDNEY ORGANOIDS AS A PLATFORM FOR INVESTIGATING MONOGENIC DISEASES AND GENE THERAPY APPROACHES
Abstract The use of 3D in vitro models is now widely adopted in biomedical research. These models enable the study of human cells under more physiologically relevant conditions and allow for early proof-of-concept testing of therapies prior to animal studies. While 3D models do not replace …
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Monogenic Defects of the Type I Interferons Signaling Pathway in Humans: Molecular and Clinical Implications
<p>The germ theory of disease, which dictates that microorganisms colloquially referred to as "germs" can invade humans or other hosts and cause disease, has remained the dominant conceptualization of infectious disease since the late nineteenth century. Since that time, growing appreciation for …
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Monogenic hypercholesterolemia in South Africans : familial hypercholesterolemia in Indians and familial defective apolipoprotein B-100
… B-100 (codon 3500) (FOB), the known causes of monogenic hypercholesterolemia (MH), have similar clinical features. The nature of the mutations responsible for MH in South Africans of Indian origin was previously unknown. Similarly, the mutations in the LDL-receptor gene of a South African Black …
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Mapping of monogenic and quantitative trait loci using a whole genome scan approach and single nucleotide polymorphism platforms
… These SNP platforms were utilized to map both monogenic and quantitative traits to finite genomic regions in beef cattle populations. The recessive defect, hypotrichosis is an autosomal recessive form of hairlessness that affects Hereford cattle. A whole-genome association analysis was …
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Vβ Recombination Signal Sequences Mediate Monoallelic And Monogenic Tcrβ Gene Assembly: Implications For The Tcrβ Repertoire And Allelic Exclusion In Health And Disease
… weak Vβ RSSs limit Vβ recombination to promote monogenic Tcrb assembly within the time window before feedback inhibition halts Vβ rearrangements. I also establish a role for ATM, a key factor in the DNA damage response that promotes DNA repair and mediates transient feedback inhibition, in …
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Multi-dimensional continuous wavelet transforms and generalized fourier transforms in Clifford analysis
… The generalized holomorphic functions, known as monogenic functions, are null-solutions of the so-called Dirac operator, a first order rotationally invariant differential operator factorizing the Laplacian in higher dimensions. This factorization of the Laplace operator establishes a special …
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Genomic investigation of primary immunodeficiency
… human immune system and are typically considered monogenic. PID presents with features including increased susceptibility to infection, autoimmunity, autoinflammation, atopy and malignancy. The list of genes associated with these inborn errors of immunity continues to expand. However, the majority …
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Inherited risk for common disease
… we derived formulae that describe the risk for monogenic, multigenic, and polygenic possibilities of Mendelian inheritance. Next, we obtained an estimate of minimum lifetime risk for CRC of >0.26. Then, we examined the case of late-onset CRC, using the Swedish Family Cancer Database (1958-2002) …
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Diagnosi prenatale non invasiva di malattie monogeniche attraverso la ricerca e l'isolamento di cellule e DNA fetale nel sangue materno
Prenatal genetic diagnosis of monogenic diseases and chromosomal abnormalities is usually performed collecting fetal samples through villocentesis or amniocentesis. These invasive procedures are associated with 0.5-1% risk for the fetus. Due to it, in recent years, much effort has been made to …
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The role of IL-17a in the rescue of ASD-like behavioral phenotypes following immune stimulation in a mouse model of neurodevelopmental disorders
… deficits within the MIA model, but not the monogenic mutant model mice. Behavioral rescue was correlated with reduced hyperactivation in the primary somatosensory cortex dysgranular zone (S1DZ), a region that has been previously shown to be tightly linked to MIA behavioral phenotypes. …
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Variegate porphyria : molecular aspects of variegate porphyria in South Africa and their biochemical and clinical consequences
… oxidase (PPO). VP is one of the commonest monogenic inherited disorders in South Africa. The clinical effects include photocutaneous sensitivity and the development of potentially life-threatening acute porphyric crises. Section 1 of this dissertation examines the molecular basis for VP in …
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Translating autoimmune genetic risk scores into improved prediction and classification of disease
… and also for recommending individuals for monogenic testing. In chapter 3, the GRS was shown to differentiate between monogenic autoimmune diabetes and polygenic type 1 diabetes. This finding provides a rationale for using a GRS threshold as a cost-effective diagnostic filter to guide …
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Unravelling the Genetics of Cerebral Small Vessel Disease
… and genetic risk factors), its rare monogenic forms have been increasingly identified. The most common of these, cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is caused by NOTCH3 variants, and the second most frequent, CADASIL …
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