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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 32 for “"Genetic Phenomena"”.
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A linkage study of autism using multipoint sib-pair analysis
… of research has provided support for a strong genetic basis in the aetiology of autism. Firstly, a number of genetic conditions, such as fragile X syndrome, chromosome 15 anomalies and tuberous sclerosis, have been associated with autism. Secondly, family studies have demonstrated that the …
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Genetic Effects Mediated Through Epistatic Networks Onto Metabolic Traits
… remain so unless we can adequately integrate genetic, epigenetic, and environmental information into a systems level framework. In a step towards that goal, quantitative trait mapping studies have attempted to account for environmental factors such as sex and diet, and epigenetic factors such …
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The significance of cell-surface α2,3-linked Sialic Acid in Osteoclasts
<p>Osteoclasts are giant, multinucleated cells that, alongside osteoblasts, are central to maintaining physiologically healthy bone. The functions of osteoclasts and osteoblasts-degrading and depositing bone matrix, respectively-are paired in healthy bone tissue, thereby yielding no net bone loss …
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Approaches to mitochondrial genome sequencing using the oxford nanopore minion device
Current DNA sequencing methods rely on polymerase chain reaction (PCR) to create sufficient copies of targeted DNA fragments to serve as a library. PCR and subsequent clean-up steps add considerable time and cost to the process and provide opportunity for introduction of amplification errors or …
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Δnp63 Regulates A Complex Network of Target Genes In Limb and Epidermal Development
<p>The skin is composed of two major compartments, the dermis and epidermis. The epidermis forms a barrier to protect the body. The stratified epithelium has self-renewing capacity throughout life, and continuous turnover is mediated by stem cells in the basal layer. p63 is structurally and …
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Genetics of Obesity In Starr County, Texas Mexican Americans
… association of obesity related traits with genetic variation from both genome-wide array data imputed to 1000 Genomes Phase 1 integrated dataset and exome sequencing, both gene-based and single variant tests were conducted. Through these single variant tests, we identified an association …
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The conservation genetics of the Clanwilliam cedar (Widdringtonia cedarbergensis)
… fires. This study set out to determine levels of genetic diversity and fitness within and among populations of the Clanwilliam cedar for the following reasons: (1) to assess the level of genetic diversity; (2) to screen the seed source for the replanting programme; (3) to locate vigorous seedling …
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Breast Cancer Risk For Female Relatives of Male Breast Cancer Patients With Negative Brca1/2 Testing
… their families following uninformative germline genetic testing.</p> <p>A retrospective chart review was performed to compare the family histories of males with breast cancer (the case group) and males with prostate cancer (the comparison group) following uninformative <em>BRCA1 </em>and …
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DNA methylation of the clusterin promoter: Associations with Alzheimer’s Disease risk and related phenotypes
… its association with clinical classification, genetic variation in CLU (rs9331888/rs11136000), and pathological biomarkers (Chapter 3.2). The second study aimed to analyse the influence of methylation on longitudinal cognitive performance (Chapter 3.3). Aims The overarching aim of the study was …
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Functional Analysis of Genomic Variation and Impact on Molecular and Higher Order Phenotypes
<p>Reverse genetics methods, particularly the production of gene knockouts and knockins, have revolutionized the understanding of gene function. High throughput sequencing now makes it practical to exploit reverse genetics to simultaneously study functions of thousands of normal sequence variants …
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Genomic Instability and the Oncohistone H3K27M Drive Gliomagenesis in a Murine Model
… and more so to post-mitotic neurons. Since, epigenetic regulation is tightly connected with neural development and differentiation, we propose the specific genes that H3K27M effects may differ depending on the time period and particular cell state from which the HGG initiates. We believe this …
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Induced Cytotoxicity In Crebbp/Ep300Mut Head and Neck Squamous Cell Carcinoma
<p><strong>INDUCED CYOTOXICTY IN <em>CREBBP</em>/<em>EP300</em>mut HEAD AND NECK SQUAMOUS CELL CARCINOMA</strong></p> <p>Thomaia Pamplin</p> <p>Advisor: Curtis Pickering, Ph.D.</p> <p>Background: Head and neck squamous cell carcinoma HNSCC is the most common malignancy in the head and neck. Most …
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Latinas and The Traditional Genetic Counseling Model: A Qualitative Study
<p>The traditional genetic counseling model reflects an individualized counseling session that includes the presentation of information about genes, chromosomes, personalized risk assessment, and genetic testing and screening options. Counselors are challenged to balance providing educational …
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MUC13 Enhances Colorectal Cancer Metastasis
… cells develop Anoikis resistance in CRC.</p> <p>Genetic variations in genes are a well-known aspect of most diseases. This is especially true for cancer. Genetic variations in mucins such as MUC1 and MUC5AC have been found to increase the risk of stomach cancer and certain Allele mutations nearly …
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Maternal Immunomodulation of Neonatal Alloantigen Response
… immunosuppression rendered, or the selection of genetically matched donors. However, the clinical success has correlated with the age of the recipient at the time of receiving a transplant. Patients receiving an allograft within the first few weeks of life are unique in that they seem to accept …
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The Role of Gap Junctions in Congenital Diseases of the Heart
<p><strong>Background.</strong> Gap junctions are thought to have a crucial role in the synchronized contraction of the heart and in embryonic development. Connexin43, the major protein of gap junctions in the heart, is targeted by several protein kinases that regulate myocardial cell-cell …
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Molecular Mechanism of the Stimulation of Alkaline Phosphatase Activity in Human Bone Cells by 1,25(OH)2 D3
<p>To facilitate this study an <em>in vitro</em> human model system was established that exhibited many aspects of normal osteoblasts. The human osteosarcoma cell line (TE85 cells) expressed a skeletal alkaline phosphatase activity (an accepted bone cell differentiation marker) which was stimulated …
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Obstetrician and Gynecologist Utilization of The Nipt Expanded Testing Option
<p>Noninvasive prenatal testing (NIPT) enables the detection of common fetal aneuploidies such as trisomy 21, trisomy 18, trisomy 13, and sex chromosome abnormalities via analysis of cell-free fetal DNA circulating in maternal serum. Although the accuracy of NIPT for fetal aneuploidy is expected to …
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Revealing a Non-canonical Role of Anti-apoptotic MCL-1 in Early Embryonic Development
<p>MCL-1, a well-known pro-survival BCL-2 family member, is indispensable for the survival of various cellular lineages and is also among the most frequently amplified genes in a variety of human malignancies. Gene ablation studies previously revealed that Mcl-1 deficiency leads to embryonic …
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Cancer Incidence In First and Second Degree Relatives of Brca1 and Brca2 Mutation Carriers
… approved study of persons referred for clinical genetic counseling at The University of Texas MD Anderson Cancer Center. We identified 9032 first and second degree relatives from 784 pedigrees which demonstrated a clear indication of parental origin of mutation. Standardized incidence ratios …
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