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Articles 1 - 8 of 8
Full-Text Articles in Medicine and Health Sciences
The Effects Of Age And Heterochromatin On Frequencies Of Acquired Chromosomal Aneuploidy In Uncultured Human Leukocytes, Noran Aboalela
The Effects Of Age And Heterochromatin On Frequencies Of Acquired Chromosomal Aneuploidy In Uncultured Human Leukocytes, Noran Aboalela
Theses and Dissertations
While age-related sex chromosomal aneuploidy is a well-characterized phenomenon, the relationship between autosomal loss and age remains unclear. The emergence of the specific and highly sensitive fluorescence in situ hybridization (FISH) technology has enabled investigators to study interphase cells, thereby overcoming problems inherent with the study of metaphase spreads for acquired aneuploidy assessment. Despite all the advantages of this technique, there are some limitations that could be misleading when scoring interphase autosomal aneuploidy. In this study we show that sex chromosomal hypoploidy is correlated with age. By using a twin study design, we evaluated Y chromosome hypoploidy frequencies and found …
Haploinsufficiency Of Rai1 And Its Effect On Bdnf Expression, Sun Kim
Haploinsufficiency Of Rai1 And Its Effect On Bdnf Expression, Sun Kim
Theses and Dissertations
Smith-Magenis Syndrome (SMS) [OMIM, #182290] is a congenital anomaly and mental retardation (MCA/MR) syndrome associated with deletion of chromosome17p11.2 [1]. The clinical phenotype has been well described and includes minor craniofacial anomalies, self-injurious behaviors as well as sleep disturbances, speech delays, and obesity [1,2,3]. The incidence of SMS is estimated to be ~ 1:15,000 - 25,000 births [2,6]. Among SMS patients, ~90% are comprised of 17p11.2 deletions, while ~10% have RAI1 mutations [8]. All 17p11.2 deletions associated with SMS include RAI1 deletion [10]. RAI1 is thought to function as a transcriptional factor although its cellular role is still unclear. First, …
The Mechanism Of Obesity In Rai1+/- Mice, Kristie Schmidt
The Mechanism Of Obesity In Rai1+/- Mice, Kristie Schmidt
Theses and Dissertations
Smith-Magenis syndrome (SMS) is a genetic disorder caused by a deletion or mutation of the retinoic acid induced 1 (RAI1) gene on chromosome 17p11.2 that results in haploinsufficiency. SMS patients with a deletion account for 90% of the cases, while the other 10% have a mutation in RAI1. The syndrome is characterized by cognitive impairment, craniofacial abnormalities, sleep disturbances, developmental delay, obesity, and behavioral phenotypes. SMS is thought to affect 1:25,000 live births, although due to similar infantile phenotypes with Down syndrome and Prader-Willi syndrome, SMS may be mis- or under-diagnosed. In a study of 54 children, it was shown …
Identification And Characterization Of A Second Wolfram Syndrome Gene, Sami Amr
Identification And Characterization Of A Second Wolfram Syndrome Gene, Sami Amr
Theses and Dissertations
Wolfram Syndrome (WFS) is a debilitating autosomal recessive neurodegenerative disorder characterized by juvenile onset insulin dependent diabetes mellitus (DM) and optic atrophy (OA) as well as a number of neurological and endocrine complications that result in early death due to respiratory complications. Previous research has mapped Wolfram syndrome to chromosome 4p16.1 and the disease has been attributed to mutations in the WFS1 gene affecting the WFS1 protein (wolframin), an ER membrane glycoprotein that plays an important role in the unfolded protein response (UPR) and in intracellular Ca2+ homeostasis. An additional locus for WFS on chromosome 4q22-24 was identified by linkage …
Mechanisms Associated With Aging And Age-Related Disease In Drosophila, Melanie Jones
Mechanisms Associated With Aging And Age-Related Disease In Drosophila, Melanie Jones
Theses and Dissertations
Aging is an intrinsic process that is independent of obvious disease. In contrast to normal aging, age-related diseases are conditions that typically manifest at advanced ages, are associated with explicit pathology and cause disability and premature death. We used Drosophila as a model to investigate the molecular-genetic mechanisms associated with aging and age-related disease. Age-related locomotor impairment (ARLI) is a serious condition for the elderly and greatly impacts their quality of life. Toward identifying genes and mechanisms that influence ARLI, we performed a forward genetic screen using Drosophila mutants. This screen identified a loss of function mutant in PDK1, a …
Identification Of Loci Contributing To The Smith-Magenis Syndrome-Like Phenotype And Molecular Evaluation Of The Retinoic Acid Induced 1 Gene, Stephen Williams
Identification Of Loci Contributing To The Smith-Magenis Syndrome-Like Phenotype And Molecular Evaluation Of The Retinoic Acid Induced 1 Gene, Stephen Williams
Theses and Dissertations
Smith-Magenis syndrome (SMS) is a multiple congenital abnormalities intellectual disability syndrome that results from a deletion of chromosome 17p11.2 or mutation of the retinoic acid inducted one gene (RAI1). SMS is characterized by a multitude of phenotypic features including craniofacial defects, short stature, obesity, intellectual disability, self-abusive behavior, sleep disturbance and behavioral abnormalities. Interestingly, although SMS is a clearly defined syndrome with a known molecular change at its foundation, ~40% of all candidate cases sent to the Elsea lab for evaluation do not have a mutation or deletion of RAI1. We hypothesize that at least one other locus must be …
Regulation Of Telomerase Expression In Stem Cell Reprogramming, Patrick Sachs
Regulation Of Telomerase Expression In Stem Cell Reprogramming, Patrick Sachs
Theses and Dissertations
A great need exists for an abundant, easily accessible source of patient-specific cells that will function for use in regenerative medicine. One promising source is the adult stem cell derived from adipose tissue (ASCs). Isolated from waste lipoaspiration, these cells could serve as a readily available source for the regeneration of damaged tissues. To further define the biology of ASCs, we have isolated multiple cell strains from different adipose tissue sources, indicating wide-spread distribution in the body. We find that a widely used set of cell surface markers fail to distinguish ASCs from normal fibroblasts. However, our ASC isolations are …
The Role Of Methyl Cpg Binding Domain Protein 2 (Mbd2) In The Regulation Of Embryonic And Fetal Β-Type Globin Genes, Merlin Nithya Gnanapragasam
The Role Of Methyl Cpg Binding Domain Protein 2 (Mbd2) In The Regulation Of Embryonic And Fetal Β-Type Globin Genes, Merlin Nithya Gnanapragasam
Theses and Dissertations
The reexpression of the fetal γ-globin gene in adult erythrocytes is of therapeutic interest due to its ameliorating effects in β-hemoglobinopathies. We recently showed that Methyl CpG Binding Domain Protein2 (MBD2) contributes to the silencing of the chicken embryonic ρ-globin and human fetal γ-globin genes. We further biochemically characterized an erythroid MeCP1 complex that is recruited by MBD2 to mediate the silencing of these genes. These observations suggest that the disruption of the MeCP1 complex could augment the expression of the fetal/embryonic globin genes. In the studies presented in chapter 2, we have pursued a structural and biophysical analysis of …