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 107 for “"Penetrance"”.
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Understanding low-penetrance genetic risk for breast cancer
… family history and/or mutations in rare, high-penetrance breast cancer genes such as BRCA1 and BRCA2. In recent years, GWASs have identified a number of more common low-penetrance susceptibility loci for breast cancer. Although each individual locus confers a relatively lower increase in risk, …
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Identification of low-penetrance alleles, genetic modifiers and mutation analysis in familial breast cancer cases
To date, germline mutations in known high-penetrance genes, mainly <i>BRCA1</i> and <i>BRCA2</i>, and in moderate- and low-penetrance genes are responsible for approximately 30- 35% of breast cancer familial clustering, leaving the majority of them unexplained. In addition, the variability of the …
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Maternal Effects on Embryonic and Placental Growth and the Penetrance of the Luxate Gene in Mice.
Preaxial polydactyly is one of the most frequent limb anomalies in man, and sporadically occurs in poultry, pigeons, and in the hindlimbs of cats, dogs, mice and guinea pigs (Carter, 1954). Polydactyly is detectable by the stage of footplate morphogenesis, but it is inducible before hind-limb bud …
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Isoniazid preventative therapy penetrance at a community health centre in South Africa: a cross sectional study
… were enrolled in the AC system had a higher IPT penetrance. Quality improvement cycles should be implemented to address the situation. Increasing the role that adherence clubs play may be an option for future interventions.
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Monogenic diabetes in large population settings
… novel disease genes and variants, assessing the penetrance and comorbidities risk in carriers of pathogenic monogenic diabetes variants, and studying disease prevalence in the general population and clinically understudied groups. Chapter one is an introductory chapter that is divided into three …
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Genetic and environmental modifiers of iron overload disease. Why do only some patients get serious health outcomes?
… their lives. The determinants of this variable penetrance remain incompletely understood. This thesis investigates the genetic and lifestyle factors that modify the risk of haemochromatosis-related iron overload and associated clinical outcomes, using population-based data from the UK Biobank …
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Development of the Limb in Mice Bearing the Mutant Gene: Hypodactyly (Hd).
… with the embryological development, the penetrance, and the expressivity in two strains of inbred mice of a mutant gene: Hypodactyly, whose principal manifestation is a numerical reduction of the hindlimb digits.In 1966, Hypodactyly (symbol Hd; linkage group XI) occurred spontaneously in …
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Aquaporin-4 mediates blood brain barrier permeability during endotoxemia
… showed that endotoxemia increased tracer penetrance into the brain parenchyma. Temporal and spatial distribution of tracers suggested that penetrance occurred across neurovasculature, choroid plexus, and circumventricular organs (CVOs). Treatment with the AQP4 inhibitor, AER-271, blocked …
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Statistical Methods For Two Problems In Cancer Research: Analysis of Rna-Seq Data From Archival Samples and Characterization of Onset of Multiple Primary Cancers
… the second topic, we focused on <em>TP53</em> penetrance estimation for multiple primary cancers (MPC). The study was motivated by the high proportion of MPC patients observed in Li-Fraumeni syndrome (LFS) families, but no MPC risk estimates so far have been provided for a better clinical …
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Common genetic variation and spliceosome variants in rare developmental disorders
… disorders (NDDs). These are likely affecting the penetrance of protein-coding variants as well as expressivity, posing a major challenge in the interpretation of rare variants. An additional challenge is our incomplete understanding of which variants are likely to affect gene function. Due to the …
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Elucidating the molecular basis of a novel autosomal dominant fibrotic syndrome
… of the skin, tendons and viscera, with variable penetrance. A candidate gene approach was adopted to investigate the molecular basis of this disease.
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Nanotechnology based therapeutic approaches to iron‐induced oxidative stress in an in vitro model of Parkinson’s disease
… therapies for PD, limiting factors such as brain penetrance and bioavailability need to be overcome. This study aimed to develop novel nanocarrier delivery systems of the antioxidants curcumin, n‐acetylcysteine (NAC) and hydroxytyrosol (HT), alone or combined with the iron chelator deferoxamine …
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Identification and Characterization of De Novo Germline Tp53 Mutation Carriers In Families With Li-Fraumeni Syndrome
… input genetic parameters, including disease-gene penetrance. The good predictive performance of Famdenovo.TP53 was demonstrated using data collected from four historical US cohorts. We hypothesize that by incorporating penetrance estimates that are specific for different types of cancers diagnosed …
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Defining the cellular and molecular mechanism of maternally inherited hearing loss
… However, the reasons for the highly variable penetrance of the associated hearing loss have not yet been fully resolved. Aminoglycosides are a recognised modifier factor of the hearing loss, but cannot account for all hearing impaired carriers in multi-generational pedigrees, implicating …
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Developing an induced pluripotent stem cell model of pulmonary arterial hypertension to understand the contribution of BMPR2 mutations to disease-associated phenotypes in smooth muscle cells
… hypertension (PAH). However, given the reduced penetrance of BMPR2 mutations in affected families, a major outstanding question is the identity of additional factors or pathways that are responsible for the manifestation of clinical disease. Furthermore, limited human tissue is available for …
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Molecular bases, pathogenic mechanisms and possible therapeutic approach in Leber's Hereditary Optic Neuropathy
… such as the male prevalence, the incomplete penetrance and the tissue selectivity. This maternally inherited disease is caused by mutations in mitochondrial encoded genes of NADH ubiquinone oxidoreductase (complex I) of the respiratory chain. The 90% of LHON cases are caused by one of the …
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Breast Cancer Risk - Environmental and Genetic Effects on Cancer Development, Progression and Survival
… with risk and prognosis. These include high penetrance genetic factors such as BRCA1, BRCA1, PTEN; and low penetrance mutations including FGFR2, CASP8 and ESR1. Additionally environmental factors influence risk, including reproductive factors, alcohol consumption, smoking and social …
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Investigation into the genetic nature of familial congenital bicuspid aortic valve
… as an autosomal dominant trait with variable penetrance. We evaluated the NOS3 candidate gene based on the reported phenotype of a mouse mutant, and the FBLN2 and TIMP4 genes based on their role in heart development. DNA sequencing of these genes in our BAV families did not reveal the presence …
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CONTRIBUTIONS OF THE 3' HOX GENES, HOXA1, HOXB1, AND HOXB2, TO PATTERNING OF THE AXIAL SKELETON DURING DEVELOPMENT
… transformations significantly increase in penetrance in Hoxb1/Hoxb2 trans-heterozygotes, compared to single heterozygotes. Through the use of transgenic mouse strains, we were also able to reproduce similar transformations upon addition of extra HoxB gene copies. Interestingly, the defects …
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Drivers of melanoma susceptibility
… followed in an effort to uncover additional high-penetrance melanoma susceptibility genes. I analysed exome and genome sequence data from a total of 184 individuals that belong to 105 melanoma-prone families from the United Kingdom, The Netherlands and Australia that did not have any pathogenetic …
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