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Articles 1 - 6 of 6
Full-Text Articles in Medical Genetics
Hook3 Mutations And Their Contributions To Different Types Of Cancers, Brittny Mikhaiel, Van Vo Ph.D.
Hook3 Mutations And Their Contributions To Different Types Of Cancers, Brittny Mikhaiel, Van Vo Ph.D.
Undergraduate Research Symposium Posters
Hook3 (Hook Microtubule Tethering Protein 3) is a gene that encodes a protein that is localized in the Golgi complex and is linked to cellular trafficking of cargos and the binding of microtubules to organelles. Although there is some literature discussing the known functions of the gene, the phenotypes in mice or humans have not been thoroughly researched and literature on these phenotypes is limited. The literature that is available suggests Hook3 is implicated in diverse phenotypes ranging from bone development to neural development in mice. Since Hook3 is associated with prostate cancer, it is likely that it is involved …
A Timeline Of Down Syndrome, Christian Guese, Kristina Mcinnes, Kimberly Miranda
A Timeline Of Down Syndrome, Christian Guese, Kristina Mcinnes, Kimberly Miranda
Undergraduate Research Symposium Posters
The purpose of this research timeline is to synthesize the natural history of Down Syndrome (DS) to discover absence of knowledge, discuss the bioethics in prenatal screening and develop a public health message. Our method of research was literature-based. DS is one of the most common aneuploidy disorders in the United States. There are three genetic variations of DS, Trisomy 21, a third copy of chromosome 21, accounts for 95% of cases. DS causes intellectual disability, developmental delays, facial dysmorphia, and low muscle tone. DS also leads to an increased risk for congenital heart defects and Alzheimer’s disease later in …
Discovering Rett Syndrome (Rts) And Understanding Its Enigmatic Development, Fiorella Ramirez-Guasp, Chanel Chan, Sukyeong Kim
Discovering Rett Syndrome (Rts) And Understanding Its Enigmatic Development, Fiorella Ramirez-Guasp, Chanel Chan, Sukyeong Kim
Undergraduate Research Symposium Posters
The purpose of this research project is to compose a comprehensive timeline on the rare disease Rett Syndrome (RTS) in order to better understand its enigmatic development as well as furthering the public’s understanding on this degenerative disease. RTS is a panethnic progressive neurodevelopmental disorder that occurs nearly exclusively in girls. This syndrome is characterized by normal prenatal and neonatal development, followed by an onset of neurological symptoms with a mental stagnation anywhere around 6-18 months of age that involves a rapid loss in speech and acquired motor skills. There is limited knowledge about the molecular cause of Rett Syndrome, …
Understanding Medical Mistrust In Black Women At Risk Of Brca 1/2 Mutations, Arnethea L. Sutton, Jun He, Erin Tanner, Megan C. Edmonds, Alesha Henderson, Alejandra Hurtado De Mendoza, Vanessa B. Sheppard
Understanding Medical Mistrust In Black Women At Risk Of Brca 1/2 Mutations, Arnethea L. Sutton, Jun He, Erin Tanner, Megan C. Edmonds, Alesha Henderson, Alejandra Hurtado De Mendoza, Vanessa B. Sheppard
Journal of Health Disparities Research and Practice
The benefits of genetic counseling and testing for hereditary breast and/or ovarian cancer (HBOC) are well documented; however, Black women are less likely to use these services compared to White women. Mistrust of the medical system has been associated with Black women’s use of genetic counseling and testing (GCT). However, relatively little is known about the correlates of medical mistrust in Black women at increased risk of HBOC. In this study, we examined the prevalence and predictors of medical mistrust in 94 Black women at-risk of HBOC. Most women were married (48.7%) and had at least some collegiate education (57.1%). …
Identification Of Chst9 As A Candidate Gene For Schizophrenia From Whole Genome Sequencing, Christopher Sharp, Jingchun Chen, Marvi Moreno, Mahtab Hamid, Francisco Servin, Bita Bashy, Travis Mize
Identification Of Chst9 As A Candidate Gene For Schizophrenia From Whole Genome Sequencing, Christopher Sharp, Jingchun Chen, Marvi Moreno, Mahtab Hamid, Francisco Servin, Bita Bashy, Travis Mize
LSAMP Poster Presentations
Recent results imply that rare variants contribute to the risk of schizophrenia. We conducted whole genome sequencing for 99 subjects from 20 Chinese families (parents and at least two siblings with a schizophrenia diagnosis and one unaffected sibling). Of the 9 frameshift mutations identified in more than 2 families, one was at chromosome 10:125780762 on the Carbohydrate Sulfotransferase 15 (CHST15) gene and another at chromosome 18:24722723 on the Carbohydrate Sulfotransferase 9 (CHST9) gene. We observed these deletions in 4 affected persons of two families from whole. At least two types of mutations (one or three bases insertion) have been identified …
Characterization Of Beryllium As A Novel Agent To Study Cell Cycle Arrest And Cellular Senescence, Priyatham Gorjala
Characterization Of Beryllium As A Novel Agent To Study Cell Cycle Arrest And Cellular Senescence, Priyatham Gorjala
UNLV Theses, Dissertations, Professional Papers, and Capstones
Cancer cells evade senescence, apoptosis, and other constraints on proliferation, often via mutation of the p53 tumor suppressor gene (TP53). Normal human lung fibroblasts have been shown to enter premature senescence upon exposure to beryllium. In these cells, BeSO4 stabilizes p53 protein, increases p21 gene expression, induces senescence-associated β-galactosidase activity and causes cell proliferation arrest. In the present study, we have investigated whether BeSO4 is able to induce similar effects in cancer cells that have wildtype p53. We have demonstrated that beryllium salt at low concentration can induce molecular changes in the p53 signaling pathway leading to cell …