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Articles 1501 - 1530 of 2900
Full-Text Articles in Genetics and Genomics
Association Of Copy Number Variations With Chronic Hepatitis B In Chinese Population, Fang Niu
Association Of Copy Number Variations With Chronic Hepatitis B In Chinese Population, Fang Niu
Capstone Experience: Master of Public Health
With one third of the Hepatitis B virus (HBV) infection population of the world, chronic Hepatitis B (CHB) has become a top burden in China. CHB is a lifelong infection with HBV which can cause serious health problems, like cirrhosis, liver cancer or even death. HBV infection is known to result in various clinical conditions, including asymptomatic HBV carriers to chronic hepatitis and primary hepatocellular carcinoma. Several studies have shown that host genetic susceptibility could be an important factor that determines these various outcomes of HBV infection. Many Single Nucleotide Polymorphisms (SNPs) and Copy Number Variations (CNVs) have been associated …
Unimóvil: A Mobile Health Clinic Providing Primary Care To The Colonias Of The Rio Grande Valley, South Texas, Eron G. Manuosv, Vincent P. Diego, Jacob Smith, Jesus R. Garza Ii, John Lowdermilk, John Blangero, Sarah Williams-Blangero, Francisco Fernandez
Unimóvil: A Mobile Health Clinic Providing Primary Care To The Colonias Of The Rio Grande Valley, South Texas, Eron G. Manuosv, Vincent P. Diego, Jacob Smith, Jesus R. Garza Ii, John Lowdermilk, John Blangero, Sarah Williams-Blangero, Francisco Fernandez
School of Medicine Publications
Background: We describe a mobile unit (UniMóvil) designed to improve poor healthcare access delivery to residents in two South Texas underserved Colonias. The interprofessional team measured seven clinical outcomes [obesity, diabetes, hypertension, hypertriglyceridemia, low high-density lipoprotein cholesterol (HDL-C) levels, and depression], and using the Duke Health Profile, assessed the health-related quality of life (HrQoL).
Methods: The investigators used previously reported disease prevalence, an implementation model, and community needs-assessments to design an outreach healthcare delivery model. A retrospective review of the cohort provides data used to determine potential predictors of clinical variables, 11 domains of HrQOL, and inter/intra Colonia …
Equine Arteritis Virus Long-Term Persistence Is Orchestrated By Cd8+ T Lymphocyte Transcription Factors, Inhibitory Receptors, And The Cxcl16/Cxcr6 Axis, Mariano Carossino, Pouya Dini, Theodore S. Kalbfleisch, Alan T. Loynachan, Igor F. Canisso, R. Frank Cook, Peter J. Timoney, Udeni B. R. Balasuriya
Equine Arteritis Virus Long-Term Persistence Is Orchestrated By Cd8+ T Lymphocyte Transcription Factors, Inhibitory Receptors, And The Cxcl16/Cxcr6 Axis, Mariano Carossino, Pouya Dini, Theodore S. Kalbfleisch, Alan T. Loynachan, Igor F. Canisso, R. Frank Cook, Peter J. Timoney, Udeni B. R. Balasuriya
Veterinary Science Faculty Publications
Equine arteritis virus (EAV) has the unique ability to establish long-term persistent infection in the reproductive tract of stallions and be sexually transmitted. Previous studies showed that long-term persistent infection is associated with a specific allele of the CXCL16 gene (CXCL16S) and that persistence is maintained despite the presence of local inflammatory and humoral and mucosal antibody responses. Here, we performed transcriptomic analysis of the ampullae, the primary site of EAV persistence in long-term EAV carrier stallions, to understand the molecular signatures of viral persistence. We demonstrated that the local CD8+ T lymphocyte response is predominantly orchestrated …
Characterization Of Human Dutpase, Shawna Marie Rotoli
Characterization Of Human Dutpase, Shawna Marie Rotoli
Graduate School of Biomedical Sciences Theses and Dissertations
Deoxyuridine nucleotidyl transferase (dUTPase) is an enzyme found in all organisms that have thymine as a component of DNA. It catalyzes the hydrolysis of dUTP to dUMP and pyrophosphate thus precluding the buildup of dUTP pools as well as providing the substrate, dUMP, for the de novo synthesis of thymidylate. In Homo sapiens, there are four isoforms: mitochondrial (mDut), nuclear (nDut), variant 3 and variant 4. This work is largely focused on nDut. Using structural and MS analyses of recombinant dUTPase constructs, an intermolecular disulfide bridge between cysteine-3 of each nDut monomer was discovered. It was found that these two …
Development Of A Prolyl Endopeptidase Expression System In Lactobacillus Reuteri To Reduce The Clinical Manifestation Of Celiac Disease, Kara Lynn Jew
Development Of A Prolyl Endopeptidase Expression System In Lactobacillus Reuteri To Reduce The Clinical Manifestation Of Celiac Disease, Kara Lynn Jew
Master's Theses
Celiac Disease (CD) is an autoimmune disorder that emerges due to the ingestion of gluten, a protein found in a variety of common grains such as wheat, rye, and barley. Approximately 1 in 100 individuals in the US suffer from CD, making it the most commonly diagnosed gastrointestinal disorder (Ciclitira et. al., 2005). These proline-rich gluten peptides are resistant to proteolysis and accumulate in the duodenum of the small intestine. Once in the duodenum, these peptides illicit an autoimmune response resulting in villous atrophy. Current treatment for CD requires a rigorous adherence to a gluten-free diet. Nevertheless, gluten-containing grains are …
Survivin Is A Prognostic Marker And Therapeutic Target For Extranodal, Nasal-Type Natural Killer/T Cell Lymphoma., Li Zhang, Yi Wei, Xiaowei Yan, Na Li, Haolan Song, Li Yang, Yang Wu, Yu-Feng Xi, Hua-Wei Weng, Jian-Hua Li, Edward H Lin, Li-Qun Zou
Survivin Is A Prognostic Marker And Therapeutic Target For Extranodal, Nasal-Type Natural Killer/T Cell Lymphoma., Li Zhang, Yi Wei, Xiaowei Yan, Na Li, Haolan Song, Li Yang, Yang Wu, Yu-Feng Xi, Hua-Wei Weng, Jian-Hua Li, Edward H Lin, Li-Qun Zou
Articles, Abstracts, and Reports
Background: The relationship between survivin and extranodal, nasal-type natural killer/T cell lymphoma (ENKTCL) was unclearly established yet. We here studied the potential prognostic roles of survivin and its implication as a target in ENKTCL therapy.
Methods: ENKTCL patients' peripheral blood were collected and tested by ELISA. ENKTCL cell lines were cultured with or without survivin inhibitor and tested by MTT and Flow cytometry. According to the gene expression profiles from the ArrayExpress Archive under E-TABM-702, survivin co-regulated cluster was established by Coupled Two-way Clustering Algorithm.
Results: Seventeen point six percent of total 17 ENKTCL patients were serum survivin-positive. These patients …
Engineering Mankind: The Sociopolitical Impact Of Eugenics In America, Megan Lee
Engineering Mankind: The Sociopolitical Impact Of Eugenics In America, Megan Lee
Voces Novae
During the early twentieth century, the American eugenics movement prospered, spreading its influence within the sociopolitical framework of the United States. The notion of eugenics – the control of human breeding to increase desirable traits, was extensively propagated through the creation of sterilization laws and public programs. Eventually, the public came to view eugenics as a necessity in order to preserve and improve the quality of mankind for the future.
Phospholipases D: Making Sense Of Redundancy And Duplication, Andrew J. Morris
Phospholipases D: Making Sense Of Redundancy And Duplication, Andrew J. Morris
Internal Medicine Faculty Publications
Why have two genes when one would suffice? Evolutionary pressure means that biology, unlike government, is generally intolerant of wasted effort. Therefore, when multiple genes exist presumably they are there to provide some benefit to the organism even if that benefit is not immediately obvious to us scientists. A recent report from Raghu and colleagues (Biosci. Rep. (2018) 38, pii: BSR20181690) [1] sheds some light on one possible reason for the existence of two Phospholipases D genes in chordates when only one is present in invertebrates.
Microrna Regulation Of Epigenetic Modifiers In Breast Cancer, Brock Humphries, Zhishan Wang, Chengfeng Yang
Microrna Regulation Of Epigenetic Modifiers In Breast Cancer, Brock Humphries, Zhishan Wang, Chengfeng Yang
Toxicology and Cancer Biology Faculty Publications
Epigenetics refers to the heritable changes in gene expression without a change in the DNA sequence itself. Two of these major changes include aberrant DNA methylation as well as changes to histone modification patterns. Alterations to the epigenome can drive expression of oncogenes and suppression of tumor suppressors, resulting in tumorigenesis and cancer progression. In addition to modifications of the epigenome, microRNA (miRNA) dysregulation is also a hallmark for cancer initiation and metastasis. Advances in our understanding of cancer biology demonstrate that alterations in the epigenome are not only a major cause of miRNA dysregulation in cancer, but that miRNAs …
Nrxn1 Deletion And Exposure To Methylmercury Increase Astrocyte Differentiation By Different Notch-Dependent Transcriptional Mechanisms, Marilena Raciti, Salma Jahan, Stefan Spulber, Giulia Gaudenzi, Zahra Khalajzeyqami, Mirko Conti, Britt-Marie Anderlid, Anna Falk, Ola Hermans, Sandra Ceccatelli
Nrxn1 Deletion And Exposure To Methylmercury Increase Astrocyte Differentiation By Different Notch-Dependent Transcriptional Mechanisms, Marilena Raciti, Salma Jahan, Stefan Spulber, Giulia Gaudenzi, Zahra Khalajzeyqami, Mirko Conti, Britt-Marie Anderlid, Anna Falk, Ola Hermans, Sandra Ceccatelli
Centre for Regenerative Medicine & Stem Cell Research
Controversial evidence points to a possible involvement of methylmercury (MeHg) in the etiopathogenesis of autism spectrum disorders (ASD). In the present study, we used human neuroepithelial stem cells from healthy donors and from an autistic patient bearing a bi-allelic deletion in the gene encoding for NRXN1 to evaluate whether MeHg would induce cellular changes comparable to those seen in cells derived from the ASD patient. In healthy cells, a subcytotoxic concentration of MeHg enhanced astroglial differentiation similarly to what observed in the diseased cells (N1), as shown by the number of GFAP positive cells and immunofluorescence signal intensity. In both …
Divergent Transcriptional Regulation Of Suppressors Of Cytokine Signaling Genes In Adipocytes, Paula Mota De Sa
Divergent Transcriptional Regulation Of Suppressors Of Cytokine Signaling Genes In Adipocytes, Paula Mota De Sa
LSU Doctoral Dissertations
The Janus Kinase - Signal Transducer and Activator of Transcription (JAK-STAT) signaling pathway transduces several signals crucial for development and homeostasis. Suppressors of cytokine signaling (SOCS) proteins control JAK-STAT signaling via a negative feedback loop. The transcription factor STAT5 is known to play a significant role in fat cell development and function, and several studies suggest that acetylation may affect STAT5 transcriptional activity. To test this hypothesis, we treated 3T3-L1 adipocytes with growth hormone (GH) to activate STAT5 in the presence or absence of histone deacetylase (HDAC) inhibitors. STAT5 acetylation levels were low in adipocytes and mostly unchanged by the …
Preoperative Stimulation Of Resolution And Inflammation Blockade Eradicates Micrometastases., Dipak Panigrahy, Allison Gartung, Jun Yang, Haixia Yang, Molly M Gilligan, Megan L Sulciner, Swati S Bhasin, Diane R Bielenberg, Jaimie Chang, Birgitta A Schmidt, Julia Piwowarski, Anna Fishbein, Dulce Soler-Ferran, Matthew A Sparks, Steven J Staffa, Vidula Sukhatme, Bruce D Hammock, Mark W Kieran, Sui Huang, Manoj Bhasin, Charles N Serhan, Vikas P Sukhatme
Preoperative Stimulation Of Resolution And Inflammation Blockade Eradicates Micrometastases., Dipak Panigrahy, Allison Gartung, Jun Yang, Haixia Yang, Molly M Gilligan, Megan L Sulciner, Swati S Bhasin, Diane R Bielenberg, Jaimie Chang, Birgitta A Schmidt, Julia Piwowarski, Anna Fishbein, Dulce Soler-Ferran, Matthew A Sparks, Steven J Staffa, Vidula Sukhatme, Bruce D Hammock, Mark W Kieran, Sui Huang, Manoj Bhasin, Charles N Serhan, Vikas P Sukhatme
Articles, Abstracts, and Reports
Cancer therapy is a double-edged sword, as surgery and chemotherapy can induce an inflammatory/immunosuppressive injury response that promotes dormancy escape and tumor recurrence. We hypothesized that these events could be altered by early blockade of the inflammatory cascade and/or by accelerating the resolution of inflammation. Preoperative, but not postoperative, administration of the nonsteroidal antiinflammatory drug ketorolac and/or resolvins, a family of specialized proresolving autacoid mediators, eliminated micrometastases in multiple tumor-resection models, resulting in long-term survival. Ketorolac unleashed anticancer T cell immunity that was augmented by immune checkpoint blockade, negated by adjuvant chemotherapy, and dependent on inhibition of the COX-1/thromboxane A2 …
Xx Sex Chromosome Complement Promotes Atherosclerosis In Mice, Yasir Alsiraj, Xuqi Chen, Sean E. Thatcher, Ryan E. Temel, Lei Cai, Eric M. Blalock, Wendy Katz, Heba M. Ali, Michael C. Petriello, Pan Deng, Andrew J. Morris, Xuping Wang, Aldons J. Lusis, Arthur P. Arnold, Karen Reue, Katherine L. Thompson, Patrick Tso, Lisa A. Cassis
Xx Sex Chromosome Complement Promotes Atherosclerosis In Mice, Yasir Alsiraj, Xuqi Chen, Sean E. Thatcher, Ryan E. Temel, Lei Cai, Eric M. Blalock, Wendy Katz, Heba M. Ali, Michael C. Petriello, Pan Deng, Andrew J. Morris, Xuping Wang, Aldons J. Lusis, Arthur P. Arnold, Karen Reue, Katherine L. Thompson, Patrick Tso, Lisa A. Cassis
Pharmacology and Nutritional Sciences Faculty Publications
Men and women differ in circulating lipids and coronary artery disease (CAD). While sex hormones such as estrogens decrease CAD risk, hormone replacement therapy increases risk. Biological sex is determined by sex hormones and chromosomes, but effects of sex chromosomes on circulating lipids and atherosclerosis are unknown. Here, we use mouse models to separate effects of sex chromosomes and hormones on atherosclerosis, circulating lipids and intestinal fat metabolism. We assess atherosclerosis in multiple models and experimental paradigms that distinguish effects of sex chromosomes, and male or female gonads. Pro-atherogenic lipids and atherosclerosis are greater in XX than XY mice, indicating …
An Integrative Cross-Omics Analysis Of Dna Methylation Sites Of Glucose And Insulin Homeostasis, Jun Liu, Elena Carnero-Montoro, Jenny Van Dongen, Samantha Lent, Ivana Nedeljkovic, Symen Ligthart, Pei-Chien Tsai, Tiphaine C. Martin, Pooja R. Mandaviya, Rick Jansen, Marjolein J. Peters, Liesbeth Duijts, Vincent W. V. Jaddoe, Henning Tiemeier, Janine F. Felix, Gonneke Willemsen, Eco J. C. De Geus, Audrey Y. Chu, Daniel Levy, Shih-Jen Hwang, Jan Bressler, Rahul Gondalia, Elias L. Salfati, Christian Herder, Bertha A. Hidalgo, Toshiko Tanaka, Ann Zenobia Moore, Rozenn N. Lemaitre, Min A. Jhun, Jennifer A. Smith, Donna K. Arnett
An Integrative Cross-Omics Analysis Of Dna Methylation Sites Of Glucose And Insulin Homeostasis, Jun Liu, Elena Carnero-Montoro, Jenny Van Dongen, Samantha Lent, Ivana Nedeljkovic, Symen Ligthart, Pei-Chien Tsai, Tiphaine C. Martin, Pooja R. Mandaviya, Rick Jansen, Marjolein J. Peters, Liesbeth Duijts, Vincent W. V. Jaddoe, Henning Tiemeier, Janine F. Felix, Gonneke Willemsen, Eco J. C. De Geus, Audrey Y. Chu, Daniel Levy, Shih-Jen Hwang, Jan Bressler, Rahul Gondalia, Elias L. Salfati, Christian Herder, Bertha A. Hidalgo, Toshiko Tanaka, Ann Zenobia Moore, Rozenn N. Lemaitre, Min A. Jhun, Jennifer A. Smith, Donna K. Arnett
Epidemiology and Environmental Health Faculty Publications
Despite existing reports on differential DNA methylation in type 2 diabetes (T2D) and obesity, our understanding of its functional relevance remains limited. Here we show the effect of differential methylation in the early phases of T2D pathology by a blood-based epigenome-wide association study of 4808 non-diabetic Europeans in the discovery phase and 11,750 individuals in the replication. We identify CpGs in LETM1, RBM20, IRS2, MAN2A2 and the 1q25.3 region associated with fasting insulin, and in FCRL6, SLAMF1, APOBEC3H and the 15q26.1 region with fasting glucose. In silico cross-omics analyses highlight the role of differential methylation …
Utilizing An Electronic Feeder To Measure Mineral And Energy Supplement Intake In Beef Heifers Grazing Native Range, Kacie L. Mccarthy, Sarah R. Underdahl, Michael Undi, Stephanie Becker, Carl R. Dahlen
Utilizing An Electronic Feeder To Measure Mineral And Energy Supplement Intake In Beef Heifers Grazing Native Range, Kacie L. Mccarthy, Sarah R. Underdahl, Michael Undi, Stephanie Becker, Carl R. Dahlen
Department of Animal Science: Faculty Publications
Introduction
Grasslands in the Northern Plains provide the primary forage source for ruminants throughout much of the year (Schauer et al., 2004). Supplementation practices are often necessary to maintain production and offset forage nutritive decline throughout the grazing season (Schauer et al., 2004; Cline et al., 2009). Typically, to maintain a targeted production level, energy and protein supplementations are used for grazing livestock (Caton and Dhuyvetter, 1997). For developing heifers consuming low-quality forages, inclusion of energy ingredients into supplements may be beneficial for growth and reproductive performance (Schillo et al., 1992; Ciccioli et al., 2005; Cappellozza et al., 2014). In …
A Mendelian Randomization Study Of Coronary Artery Disease And Three Amino Acids: Alanine, Glycine, And Glutamine, Allan Uribe
A Mendelian Randomization Study Of Coronary Artery Disease And Three Amino Acids: Alanine, Glycine, And Glutamine, Allan Uribe
Dissertations and Theses
Cardiovascular disease is the leading cause of death worldwide. Coronary Artery Disease (CAD) accounts for the majority of those deaths. Observational studies have identified risk factors that have been helpful in lowering the death rate, including hypertension, high cholesterol, diabetes, smoking, physical inactivity and poor diet. The effects of these risk factors on CAD remain unclear. To clarify the effect of three amino acids, alanine, glutamine, and glycine on CAD I applied a two sample Mendelian randomization analysis to extensively genotyped observational data. In a sample with up to 184,000 individuals and approximately 60,000 controls, SNPs that reached genome wide …
The Anti-Sigma Factor Muca Of Pseudomonas Aeruginosa: Dramatic Differences Of A Muca22 Vs. A Δmuca Mutant In Anaerobic Acidified Nitrite Sensitivity Of Planktonic And Biofilm Bacteria In Vitro And During Chronic Murine Lung Infection, Warunya Panmanee, Shengchang Su, Michael J. Schurr, Gee W. Lau, Xiaoting Zhu, Zhaowei Ren, Cameron T. Mcdaniel, Long J. Lu, Dennis E. Ohman, Daniel A. Muruve, Ralph J. Panos, Hongwei D. Yu, Thomas B. Thompson, Boo Shan Tseng, Daniel J. Hassett
The Anti-Sigma Factor Muca Of Pseudomonas Aeruginosa: Dramatic Differences Of A Muca22 Vs. A Δmuca Mutant In Anaerobic Acidified Nitrite Sensitivity Of Planktonic And Biofilm Bacteria In Vitro And During Chronic Murine Lung Infection, Warunya Panmanee, Shengchang Su, Michael J. Schurr, Gee W. Lau, Xiaoting Zhu, Zhaowei Ren, Cameron T. Mcdaniel, Long J. Lu, Dennis E. Ohman, Daniel A. Muruve, Ralph J. Panos, Hongwei D. Yu, Thomas B. Thompson, Boo Shan Tseng, Daniel J. Hassett
Life Sciences Faculty Research
Mucoid mucA22 Pseudomonas aeruginosa (PA) is an opportunistic lung pathogen of cystic fibrosis (CF) and chronic obstructive pulmonary disease (COPD) patients that is highly sensitive to acidified nitrite (A-NO2-). In this study, we first screened PA mutant strains for sensitivity or resistance to 20 mM A-NO2- under anaerobic conditions that represent the chronic stages of the aforementioned diseases. Mutants found to be sensitive to A-NO2- included PA0964 (pmpR, PQS biosynthesis), PA4455 (probable ABC transporter permease), katA (major catalase, KatA) and rhlR (quorum sensing regulator). In contrast, mutants lacking PA0450 (a putative phosphate transporter) and PA1505 (moaA2) were A-NO2- resistant. However, …
Downregulation Of Cenpf Remodels Prostate Cancer Cells And Alters Cellular Metabolism., Muhammad Shahid, Minhyung Kim, Min Young Lee, Austin Yeon, Sungyong You, Hyung L Kim, Jayoung Kim
Downregulation Of Cenpf Remodels Prostate Cancer Cells And Alters Cellular Metabolism., Muhammad Shahid, Minhyung Kim, Min Young Lee, Austin Yeon, Sungyong You, Hyung L Kim, Jayoung Kim
Articles, Abstracts, and Reports
Metabolic alterations in prostate cancer (PC) are associated with progression and aggressiveness. However, the underlying mechanisms behind PC metabolic functions are unknown. The authors' group recently reported on the important role of centromere protein F (CENPF), a protein associated with the centromere-kinetochore complex and chromosomal segregation during mitosis, in PC MRI visibility. This study focuses on discerning the role of CENPF in metabolic perturbation in human PC3 cells. A series of bioinformatics analyses shows that CENPF is one gene that is strongly associated with aggressive PC and that its expression is positively correlated with metastasis. By identifying and reconstructing the …
Participant Perspectives On A Phase I/Ii Ocular Gene Therapy Trial (Nct02077361), Stephanie P. Brooks, Shelly Benjaminy, Tania M. Bubela
Participant Perspectives On A Phase I/Ii Ocular Gene Therapy Trial (Nct02077361), Stephanie P. Brooks, Shelly Benjaminy, Tania M. Bubela
Office of the Provost
Background: To learn from the experiences of potential clinical trial participants, participants in a Phase 1 ocular gene therapy trial, and their partners to improve communications and trial conduct.
Materials and methods: Primary and secondary qualitative analysis of semi-structured interviews of potential participants (n = 20), clinical trial participants (n = 2) and their partners (n = 2) in a gene therapy clinical trial for choroideremia (NCT02077361). Analysis included: 1) thematic analysis of transcribed entrance and exit semi-structured interviews with trial participants and their partners; and 2) secondary qualitative analysis of interviews with potential trial participants, …
Crispr/Cas9 In Yeast: A Multi-Week Laboratory Exercise For Undergraduate Students, Randi J. Ulbricht
Crispr/Cas9 In Yeast: A Multi-Week Laboratory Exercise For Undergraduate Students, Randi J. Ulbricht
Open Educational Resources
Providing undergraduate life-science students with a course-based research experience that utilizes cutting-edge technology, is tractable for students, and is manageable as an instructor is a challenge. Here, I describe a multi-week lesson plan for a laboratory-based course with the goal of editing the genome of budding yeast, Saccharomyces cerevisiae. Students apply knowledge regarding advanced topics such as: CRISPR/Cas9 gene editing, DNA repair, genetics, and cloning. The lesson requires students to master skills such as bioinformatics analysis, restriction enzyme digestion, ligation, basic microbiology skills, polymerase chain reaction, and plasmid purification. Instructors are led through the technical aspects of the protocols, …
Female Family Members Lack Understanding Of Indeterminate Negative Brca1/2 Test Results Shared By Probands, Deborah Himes, Deborah K. Gibbons, Wendy C. Birmingham, Renea L. Beckstrand, Amanda Gammon, Anita Y. Kinney, Margaret F. Clayton
Female Family Members Lack Understanding Of Indeterminate Negative Brca1/2 Test Results Shared By Probands, Deborah Himes, Deborah K. Gibbons, Wendy C. Birmingham, Renea L. Beckstrand, Amanda Gammon, Anita Y. Kinney, Margaret F. Clayton
Faculty Publications
Genetic test results have important implications for close family members. Indeterminate negative results are the most common outcome of BRCA1/2 mutation testing. Little is known about family members’ understanding of indeterminate negative BRCA1/2 test results. The purpose of this mixed-methods study was to investigate how daughters and sisters received and understood genetic test results as shared by their mothers or sisters. Participants included 81 women aged 40-74 with mothers or sisters previously diagnosed with breast cancer and who received indeterminate negative BRCA1/2 test results. Participants had never been diagnosed with breast cancer nor received their own genetic testing or counseling. …
Publisher Correction: Toxoplasma Modulates Signature Pathways Of Human Epilepsy, Neurodegeneration & Cancer., Huân M Ngô, Ying Zhou, Hernan Lorenzi, Kai Wang, Taek-Kyun Kim, Yong Zhou, Kamal El Bissati, Ernest Mui, Laura Fraczek, Seesandra V Rajagopala, Craig W Roberts, Fiona L Henriquez, Alexandre Montpetit, Jenefer M Blackwell, Sarra E Jamieson, Kelsey Wheeler, Ian J Begeman, Carlos Naranjo-Galvis, Ney Alliey-Rodriguez, Roderick G Davis, Liliana Soroceanu, Charles Cobbs, Dennis A Steindler, Kenneth Boyer, A Gwendolyn Noble, Charles N Swisher, Peter T Heydemann, Peter Rabiah, Shawn Withers, Patricia Soteropoulos, Leroy Hood, Rima Mcleod
Publisher Correction: Toxoplasma Modulates Signature Pathways Of Human Epilepsy, Neurodegeneration & Cancer., Huân M Ngô, Ying Zhou, Hernan Lorenzi, Kai Wang, Taek-Kyun Kim, Yong Zhou, Kamal El Bissati, Ernest Mui, Laura Fraczek, Seesandra V Rajagopala, Craig W Roberts, Fiona L Henriquez, Alexandre Montpetit, Jenefer M Blackwell, Sarra E Jamieson, Kelsey Wheeler, Ian J Begeman, Carlos Naranjo-Galvis, Ney Alliey-Rodriguez, Roderick G Davis, Liliana Soroceanu, Charles Cobbs, Dennis A Steindler, Kenneth Boyer, A Gwendolyn Noble, Charles N Swisher, Peter T Heydemann, Peter Rabiah, Shawn Withers, Patricia Soteropoulos, Leroy Hood, Rima Mcleod
Articles, Abstracts, and Reports
A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has been fixed in the paper.
Fragile X- Associated Neuropsychiatric Disorders: A Case Report, Maria Melinda Tan, Jeanne Barbara Dy, Maria Jimena Salcedo-Arellano, Flora Tassone, Randi J. Hagerman
Fragile X- Associated Neuropsychiatric Disorders: A Case Report, Maria Melinda Tan, Jeanne Barbara Dy, Maria Jimena Salcedo-Arellano, Flora Tassone, Randi J. Hagerman
Ateneo School of Medicine and Public Health Publications
Mutations in the Fragile X Mental Retardation 1 (FMR1) gene create a spectrum of developmental disorders in children in addition to neurodegenerative problems in older populations. Two types of mutations are recognized in the FMR1 gene. The full mutation (>200 CGG repeats) in the FMR1 gene leads to Fragile X Syndrome which is the most common inherited cause of intellectual disability and autism, while the premutation (55 to 200 CGG repeats) identified among carriers leads to a range of problems linked to elevated levels of the FMR1 mRNA leading to mRNA toxicity and occasionally mildly deficient FMRP …
Toward A Comprehensive View Of Cancer Immune Responsiveness: A Synopsis From The Sitc Workshop., Davide Bedognetti, Michele Ceccarelli, Lorenzo Galluzzi, Rongze Lu, Karolina Palucka, Josue Samayoa, Stefani Spranger, Sarah Warren, Kwok-Kin Wong, Elad Ziv, Diego Chowell, Lisa M Coussens, Daniel D De Carvalho, David G Denardo, Jérôme Galon, Howard L Kaufman, Tomas Kirchhoff, Michael T Lotze, Jason J Luke, Andy J Minn, Katerina Politi, Leonard D Shultz, Richard Simon, Vésteinn Thórsson, Joanne B Weidhaas, Maria Libera Ascierto, Paolo Antonio Ascierto, James M Barnes, Valentin Barsan, Praveen K Bommareddy, Adrian Bot, Sarah E Church, Gennaro Ciliberto, Andrea De Maria, Dobrin Draganov, Winson S Ho, Heather M Mcgee, Anne Monette, Joseph F Murphy, Paola Nisticò, Wungki Park, Maulik Patel, Michael Quigley, Laszlo Radvanyi, Harry Raftopoulos, Nils-Petter Rudqvist, Alexandra Snyder, Randy F Sweis, Sara Valpione, Lisa H Butterfield, Mary L Disis, Bernard A Fox, Alessandra Cesano, Francesco M Marincola
Toward A Comprehensive View Of Cancer Immune Responsiveness: A Synopsis From The Sitc Workshop., Davide Bedognetti, Michele Ceccarelli, Lorenzo Galluzzi, Rongze Lu, Karolina Palucka, Josue Samayoa, Stefani Spranger, Sarah Warren, Kwok-Kin Wong, Elad Ziv, Diego Chowell, Lisa M Coussens, Daniel D De Carvalho, David G Denardo, Jérôme Galon, Howard L Kaufman, Tomas Kirchhoff, Michael T Lotze, Jason J Luke, Andy J Minn, Katerina Politi, Leonard D Shultz, Richard Simon, Vésteinn Thórsson, Joanne B Weidhaas, Maria Libera Ascierto, Paolo Antonio Ascierto, James M Barnes, Valentin Barsan, Praveen K Bommareddy, Adrian Bot, Sarah E Church, Gennaro Ciliberto, Andrea De Maria, Dobrin Draganov, Winson S Ho, Heather M Mcgee, Anne Monette, Joseph F Murphy, Paola Nisticò, Wungki Park, Maulik Patel, Michael Quigley, Laszlo Radvanyi, Harry Raftopoulos, Nils-Petter Rudqvist, Alexandra Snyder, Randy F Sweis, Sara Valpione, Lisa H Butterfield, Mary L Disis, Bernard A Fox, Alessandra Cesano, Francesco M Marincola
Articles, Abstracts, and Reports
Tumor immunology has changed the landscape of cancer treatment. Yet, not all patients benefit as cancer immune responsiveness (CIR) remains a limitation in a considerable proportion of cases. The multifactorial determinants of CIR include the genetic makeup of the patient, the genomic instability central to cancer development, the evolutionary emergence of cancer phenotypes under the influence of immune editing, and external modifiers such as demographics, environment, treatment potency, co-morbidities and cancer-independent alterations including immune homeostasis and polymorphisms in the major and minor histocompatibility molecules, cytokines, and chemokines. Based on the premise that cancer is fundamentally a disorder of the genes …
Dietary Restriction Enhances Circadian Amplitude And Delays Visual Decline By A Clock-Driven Increase In Phototransduction, Geoff Meyerhof
Dietary Restriction Enhances Circadian Amplitude And Delays Visual Decline By A Clock-Driven Increase In Phototransduction, Geoff Meyerhof
Natural Sciences and Mathematics | Biological Sciences Master's Theses
Aging is accompanied by a progressive loss of circadian rhythms. Lifespan-extending dietary paradigms such as dietary restriction (DR) enhance circadian amplitude and appear to extend lifespan in a clock-dependent fashion. However, the mechanisms by which DR amplifies circadian rhythms and why circadian rhythms decline with age have yet to be fully elucidated. Here we find that DR amplifies circadian amplitude by enhancing light sensitivity in the eye. We performed a circadian mRNA microarray in flies (Drosophila melanogaster) reared on DR or a high nutrient diet and found that DR increases the number of circadian transcripts and selectively amplifies the …
New Targeted Treatments For Fragile X Syndrome, Dragana Protic, Maria J. Salcedo-Arellano, Jeanne Barbara Dy, Laura A. Potter, Randi J. Hagerman
New Targeted Treatments For Fragile X Syndrome, Dragana Protic, Maria J. Salcedo-Arellano, Jeanne Barbara Dy, Laura A. Potter, Randi J. Hagerman
Ateneo School of Medicine and Public Health Publications
Fragile X Syndrome (FXS) is the most common cause of inherited intellectual disability with prevalence rates estimated to be 1:5,000 in males and 1:8,000 in females. The increase of >200 Cytosine Guanine Guanine (CGG) repeats in the 5' untranslated region of the Fragile X Mental Retardation 1 (FMR1) gene results in transcriptional silencing on the FMR1 gene with a subsequent reduction or absence of fragile X mental retardation protein (FMRP), an RNA binding protein involved in the maturation and elimination of synapses. In addition to intellectual disability, common features of FXS are behavioral problems, autism, language deficits and atypical physical …
Phylogenetic Inference Of Multiscale Selection Pressures Using A Continuous State Birth-Death Process, Marco Hamins-Puertolas, David Rasmussen
Phylogenetic Inference Of Multiscale Selection Pressures Using A Continuous State Birth-Death Process, Marco Hamins-Puertolas, David Rasmussen
Biology and Medicine Through Mathematics Conference
No abstract provided.
Clinical Utility Of Exon Deletion/Duplication Microarray Testing - A Children’S Mercy Kansas City Two-Year Experience, Binu Porath
Clinical Utility Of Exon Deletion/Duplication Microarray Testing - A Children’S Mercy Kansas City Two-Year Experience, Binu Porath
Research Days
No abstract provided.
A Discrepancy Between The Human Reference Genome (Grch37) And Transcriptome (Refseq) Results In The Incorrect Annotation Of A Clinically-Relevant Sequence Variant In Recql4, Lisa A. Lansdon
Research Days
No abstract provided.
Crispr/Cas9 Driven Eradication Of Hiv-1 In Infected Human Genome, Sydney Loechler
Crispr/Cas9 Driven Eradication Of Hiv-1 In Infected Human Genome, Sydney Loechler
Senior Seminars and Capstones
Once infected with HIV-1, the host immune system is incapable of ridding itself of the virus. HIV-1 uses latent viral reservoirs (LR) within CD4+ T cells to replicate. Within these reservoirs, HIV-1 is able to go into a latent state where it cannot be detected by the host's immune system or current HIV-1 treatments. By utilizing viewing assays and CRISPR-Cas9, there may be a possibility to identify, isolate, and then cut out HIV-1 from an infected cell. Two possible viewing assays have been proposed and studied in recent research. PCR assays are quicker and easier to administer while viral outgrowth …