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 45 for “"genetic mutation"”.
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Family Environment, Social Support, and Psychological Distress of Women Seeking BRCA1 and BRCA2 Genetic Mutation Testing
… to be identified in research on women seeking genetic testing for BRCA1 and BRCA2 gene mutations. This study further explored patterns of psychological distress for 51 community women waiting to receive such genetic test results. There was no significant relationship between psychological …
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I Cut Off My... Voice: An Autoethnography of an Artist and Art Educator with a BRCA Genetic Mutation
<p>The effects of BRCA genetic mutations on artists and art educators had not been known. Autoethnography is a qualitative method for writing about personal experiences through a cultural lens. I used my personal experiences within a BRCA positive community to understand shared experiences among …
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Deletion of FMR1 results in sex-specific changes in behavior.
… hyperactivity and social behavior abnormalities. Mutations in the FMR1 gene are found in 2 - 6 % of individuals with Autism Spectrum Disorder (ASD), making it the single largest genetic contributor to ASD. Mouse models of FXS disorder are commonly touted as preferred models for understanding ASD. …
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Psychological and Sociodemographic Predictors of Psychological Distress in BRCA1 and BRCA2 Genetic Testing Participants within a Community Based Genetic Screening Program
Mutations in BRCA1 and BRCA2, the first two breast cancer susceptibility genes identified, carry as much as an 85% lifetime risk of developing breast, ovarian or other cancers. Genetic testing for mutations in these two genes has recently become commercially available. There have been varying …
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Vilniaus universiteto ligoninės Santaros klinikų Plastinės ir rekonstrukcinės chirurgijos centro penkių metų patirtis atliekant profilaktines mastektomijas /
… to November 2023, specifically due to identified genetic mutations. The study received approval from the Vilnius Regional Biomedical Research Ethics Committee (Authorization No. 2023/12-1548-1017). Statistical analysis was carried out using Microsoft Office Excel and RCommander software packages. …
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Controlled ablation of rod photoreceptors in transgenic Xenopus laevis
… rod photoreceptors can occur as the result of genetic mutation. In humans, and in mammalian models of retinal degeneration, the death of these cells is permanent, and often followed by cone photoreceptor death, which leads to blindness. As a step towards understanding the implications of rod …
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Senses lost : the impossible dilemma of Usher Syndrome, and its possible solutions
… and vision (retinitis pigmentosa). Increasingly, genetic testing, either through panels or whole exome sequencing, lets people know which of the twelve genes identified to date is responsible for the loss of their senses. Researchers are using these genetic ascertainment data to identify patients …
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Citrulline metabolism in cultured fibroblasts : citrullinemia analysis and nitric oxide production
… involving citrulline. In the first section, the genetic mutation responsible for the argininosuccinate synthetase (-ASS) deficiency (1-5% activity) in this cell line was investigated. PCR analysis of the ASS cDNA revealed that the mRNA coding region (1236bp) was intact, showing no signs of major …
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Molecular Pathogenesis of Spinocerebellar Ataxia type 10
… manifestation of SCA10. More interestingly, the genetic mutation to cause SCA10 is a non-coding ATTCT repeat expansion located on the 9th intron of the ATXN10 gene. How this enlarged intronic ATTCT repeat leads to degeneration or dysfunction of the nervous system underlying SCA10 phenotype is not …
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Communication In Family Members With A Rare APC Mutation
… APC-associated polyposis is caused by mutations in the APC gene and includes familial adenomatous polyposis (FAP), an autosomal dominant cancer predisposition syndrome which has a lifetime risk of colon cancer of almost 100%. Identifying a genetic mutation can provide important health …
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Sodium Channel Loss of Function Sensitizes Conduction to Changes in Extracellular Sodium Concentration
… when sodium channels are impaired, such as by genetic mutation or pharmacologic blockade, that conduction is sensitized to changes in sodium concentrations that would not otherwise induce changes in CV. We go on to explore the mechanisms that modulate this sensitivity and present data that show …
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The Origin of Genome Instability in Cancer: Role of the Fragile Site Gene Product FHIT
… multiple steps mediated by the acquisition of mutations, selection and clonal expansion of cells with favorable mutations. Most cancers exhibit remarkable genomic instability, defined as an elevated rate of genetic mutation at the single nucleotide and chromosome levels. Genomic instability is …
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Genetic analysis of the hl locus in maize
Several genetic factors determining the phenotype of maize (Zea mays L.) kernels have been identified and characterized through the analysis of mutant genotypes. The h1 locus is defined by a genetic mutation that results in a starchy and opaque endosperm. This study was conducted to determine the …
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Cellular and Organismal Ramifications of de novo Purine Synthesis Dysregulation
… to life. Purines are used within the cell as genetic information carriers, energy currency, signaling molecules, and cofactors for multiple processes. They are formed through <em>de novo</em> and salvage pathways found in cells across the phylogenetic tree. The substrates of enzymes within …
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A Proposed Mechanism for Enhanced Titin-Based Force during Ca2+-activation
… with muscular dystrophy with myositis (mdm), a genetic mutation affecting the titin protein. The final study seeks to determine whether mechanical deficiencies in titin force enhancement are observed in a less reduced, single fiber preparation. Mutant fibers generated comparable contractile …
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Mutation analysis of important retinal candidate genes: progression from research to diagnostic service
… consequent vision loss. The Division of Human Genetics at the University of Cape Town (UCT) has samples archived in the RDD DNA database from over 1000 South African families. The research in this Division currently involves mutation screening of retinal candidate genes, with the goal of …
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Recognizing epigenetic patterns that mark the control of cell state in differentiation and disease
… landscape, much is still unknown about how epigenetic signals are integrated in the transcriptional outcome of a gene. Here, a number of systematic, genome-wide approaches result in the discovery of epigenetic patterns associated with the modulation of gene expression. We begin by examining …
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The Intersection of Neurodegeneration and Mitochondrial Stress in Caenorhabditis Elegans Models of Parkinson's Disease
… we found that the atfs-1 loss-of-function mutation constitutively inactivates the UPRmt, resulting in decreased neurodegeneration. We hypothesized that this attenuation of neurodegeneration observed in the absence of afts-1 activity reflects diminished levels of UPRmt gene products that …
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Magnetic Resonance Spectroscopy Imaging of 2-Hydroxyglutarate in Brain Tumors at 3T and 7T In Vivo
… first imaging biomarker that is specific to a genetic mutation in gliomas, making the diagnosis of IDH mutant gliomas possible without biopsy. 2HG also has a significant predictive value with respect to the stage and survival in gliomas because IDH mutation carries a favorable prognosis. …
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Characterizing A Novel Genetic Locus Associated With Familial Co-Occurrence of Thoracic Aortic Aneurysms and Intracranial Aneurysms
The Mendelian inheritance of genetic mutations can lead to adult-onset cardiovascular disease. Several genetic loci have been mapped for the familial form of Thoracic Aortic Aneurysms (TAA), and many causal mutations have been identified for this disease. Intracranial Aneurysms (ICA) also show …
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