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Articles 1 - 7 of 7
Full-Text Articles in Medicine and Health Sciences
Analyzing The Functions Of Human Polynucleotide Phosphorylase (Hpnpaseold-35), Upneet K. Sokhi
Analyzing The Functions Of Human Polynucleotide Phosphorylase (Hpnpaseold-35), Upneet K. Sokhi
Theses and Dissertations
RNA degradation plays a fundamental role in maintaining cellular homeostasis, along with being a part of normal regulatory mechanisms, whether it occurs as a surveillance mechanism eliminating aberrant mRNAs or during RNA processing to generate mature transcripts. 3’-5’ exoribonucleases are essential mediators of RNA decay pathways, and one such evolutionarily conserved enzyme is polynucleotide phosphorylase (PNPase). The human homologue of this fascinating enzymatic protein (hPNPaseold-35) was cloned a decade ago in the context of terminal differentiation and senescence through a novel ‘overlapping pathway screening’ approach. Since then, significant insights have been garnered about this exoribonuclease and its repertoire of expanding …
Validation Of Copy Number Variants Associated With Schizophrenia Risk In An Irish Population And Implications To Clinical Practice, Rachel L. Elves
Validation Of Copy Number Variants Associated With Schizophrenia Risk In An Irish Population And Implications To Clinical Practice, Rachel L. Elves
Theses and Dissertations
Schizophrenia is a complex disorder affecting 1% of the population and is highly heritable, but the majority of contributing genetic factors has remained elusive. Current risk estimates for clinical practice are primarily determined by family history and associated empirical risk. Copy number variants (CNVs) may hold the key to explaining the missing heritability in schizophrenia research; schizophrenia risk estimates as high as 30% have been found for the most-studied CNV associated with schizophrenia, 22q11. Currently, there are methods to identify CNVs though previously collected data from SNP microarrays that would facilitate these types of studies. To determine if algorithms that …
Genetic Analysis Of Ethanol Sensitivity And Tolerance In Drosophila, Robin Chan
Genetic Analysis Of Ethanol Sensitivity And Tolerance In Drosophila, Robin Chan
Theses and Dissertations
The genetic pathways influencing alcohol abuse and dependence are poorly characterized. Many critical discoveries about the interactions between ethanol-related behaviors and genetics have been made in the fruit fly Drosophila melanogaster. Coupling the statistical power of model organism studies to human association studies bolsters the analytical efficacy of these genomic approaches. A variety of behavioral assays are available for assessing behavioral responses to ethanol in Drosophila. However, we find our previously described eRING assay is influenced by the commonly used transgenic marker mini-white. We developed a Simple Sedation Assay (SSA) that is insensitive to the effects of white and mini-white. …
Characterizing The Role Of Cdk2ap1 In Primary Human Fibroblasts And Human Embryonic Stem Cells, Khaled Alsayegh
Characterizing The Role Of Cdk2ap1 In Primary Human Fibroblasts And Human Embryonic Stem Cells, Khaled Alsayegh
Theses and Dissertations
Cyclin Dependent Kinase-2 Associated Protein-1 (CDK2AP1) plays an important role in cell cycle regulation, by inhibiting CDK2 and by targeting it for proteolysis. It is also known to bind the DNA polymerase alpha-primase complex and regulate the initiation step of DNA synthesis. Its overexpression has been shown to inhibit growth, reduce invasion and increase apoptosis in a number of cancer cell lines. In studies in which mouse embryonic stem cells (mESCs) with targeted deletion of the Cdk2ap1 gene were used, Cdk2ap1 was shown to be required for epigenetic silencing of Oct4 during differentiation. The goal of this thesis was to …
Chromosome-Specific Telomere Length In Women With Breast Cancer: Their Relationship To Chemotherapy And Acquired Psychoneurological Symptoms, Areej Alhareeri
Chromosome-Specific Telomere Length In Women With Breast Cancer: Their Relationship To Chemotherapy And Acquired Psychoneurological Symptoms, Areej Alhareeri
Theses and Dissertations
Breast cancer (BC) is one of the most common diagnosed malignancies in females. Although 90% of early diagnosed women are expected to survive for at least 5 years, their quality of life is adversely affected by a cluster of symptoms which we collectively named “psychoneurological symptoms’’ (PN). Given that acquired telomere attrition has been speculated to be a causal factor in chronic diseases and the lack in the literature of mechanisms giving rise to PN symptoms, this study was performed to assess telomere length using a chromosome-specific telomere assay before receiving chemotherapy and at the first chemotherapy. We showed significant …
Uncovering The Molecular Pathways Of Mbd5 In Neurodevelopmental Disorders, Sureni Mullegama
Uncovering The Molecular Pathways Of Mbd5 In Neurodevelopmental Disorders, Sureni Mullegama
Theses and Dissertations
Neurodevelopmental disorders (NDs) are a growing public health concern. These complex disorders cause failure of normal brain development, which leads to intellectual disability (ID) or autism in 3% of children. Accurate diagnosis of NDs is difficult due to complex overlapping phenotypes. Moreover, associations between phenotypically similar NDs and their overlapping molecular mechanisms remain unidentified. The chromosome 2q23.1 region is a newly discovered disease region. We have recently identified a novel ND, 2q23.1 deletion syndrome. The phenotype includes severe ID, significantly delayed speech, behavioral problems, seizures and short stature. This syndrome shares characteristics in common with other genetic syndromes, including Smith-Magenis …
Klf2 Is Required For Normal Mouse Cardiovascular Development, Aditi Raghunath Chiplunkar
Klf2 Is Required For Normal Mouse Cardiovascular Development, Aditi Raghunath Chiplunkar
Theses and Dissertations
Krüppel-like factor 2 (KLF2) is expressed in endothelial cells in the developing heart, particularly in areas of high shear stress, such as the atrioventricular (AV) canal. KLF2 ablation leads to myocardial thinning, high output cardiac failure and death by mouse embryonic day 14.5 (E14.5) in a mixed genetic background. This work identifies an earlier and more fundamental role for KLF2 in mouse cardiac development in FVB/N mice. FVB/N KLF2-/- embryos die earlier, by E11.5. E9.5 FVB/N KLF2-/- hearts have multiple, disorganized cell layers lining the AV cushions, the primordia of the AV valves, rather than the normal single layer. By …