1,346 results on '"Overton, John"'
Search Results
202. Cytokine response of electrolytic ablation in an ex vivo perfused liver model
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Gravante, Gianpiero, Ong, Seok Ling, Metcalfe, Matthew S., Sorge, Roberto, Overton, John, Lloyd, David M., Maddern, Guy J., and Dennison, Ashley R.
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- 2010
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203. Transvaginal cystocele correction: Midterm results with a transobturator tension-free technique using a combined bovine pericardium/polypropylene mesh
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Araco, Francesco, Gravante, Gianpiero, Overton, John, Araco, Placido, and Dati, Stefano
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- 2009
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204. The influence of BMI, smoking, and age on vaginal erosions after synthetic mesh repair of pelvic organ prolapses. A multicenter study
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ARACO, FRANCESCO, GRAVANTE, GIANPIERO, SORGE, ROBERTO, OVERTON, JOHN, DE VITA, DAVIDE, PRIMICERIO, MARIO, DATI, STEFANO, ARACO, PLACIDO, and PICCIONE, EMILIO
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- 2009
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205. Urinary tract reconstruction using the controlateral native ureter and a combined open-retroperitoneoscopic approach after renal transplantation
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Orlando, Giuseppe, Di Clemente, Luigi, Gravante, Gianpiero, Overton, John, Di Cocco, Pierpaolo, Rizza, Vinicio, DʼAngelo, Maurizio, Famulari, Antonio, and Pisani, Francesco
- Published
- 2008
206. Primary Carcinoids of the Liver: A Review of Symptoms, Diagnosis and Treatments
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Gravante, Gianpiero, De Liguori Carino, Nicola, Overton, John, Manzia, Tommaso Maria, and Orlando, Giuseppe
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- 2008
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207. Using Quantitative Techniques
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Overton, John, primary and van Diermen, Peter, additional
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- 2003
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208. Measurement and Modelling of Ammonia Emissions at Waste Treatment Lagoon-Atmospheric Interface
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Aneja, Viney P., primary, Malik, Brahm P., additional, Tong, Quansong, additional, Kang, Daiwen, additional, and Overton, John H., additional
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- 2001
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209. Understanding the urban livelihoods and wellbeing of migrant women working in garment factories in Vientiane, Laos
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Overton, John, Homesana, Chanmala, Overton, John, and Homesana, Chanmala
- Abstract
Rural-urban migrants are the major contributions to the labour force that drives the manufacturing sector in Laos. Migrants, particularly young women, contribute abundant cheap labour to garment industries. Despite their hard work and contribution, the living and working conditions for migrants are often overlooked. This thesis explores the migration, livelihoods and wellbeing of migrant women working in the garment factories in Vientiane, the capital city of Laos. This thesis focuses particularly on how working in the factories and living in the city affects the wellbeing of women. The field research was conducted in three garment factories in Vientiane where most garment factories are located. The data was obtained mainly from ten individual interviews and four focus group sessions with women workers. Additionally, ten officials from public and private sector were interviewed to bring additional perspectives into this research. The theoretical framework of the study derives from the sustainable livelihood framework to explore the main aspects of women’s livelihoods. Also, Marxist, radical and post-structural feminist theories are incorporated into the framework to analyse the issues facing migrant women. This research pays attention to how women are oppressed as a subordinated class and gender, as well as to how women individually and collectively use their agency to improve their conditions. This thesis claims that working in the factory and living in the city have both positive and negative consequences for women workers. It has increased the human, social and financial capital of women workers. However, women were oppressed in many forms by their capitalist employers as well as by men inside and outside the factory. However, although women workers experience exploitation and oppression, they are able to construct their new identities and develop strategies to cope in their everyday lives.
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- 2019
210. An Exploration of The Key Issues and Challenges in Implementing Public-Private Partnerships: A Case Study of The Central Java Power Plant Project, Indonesia
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Overton, John, Falashifah, Fikriyatul, Overton, John, and Falashifah, Fikriyatul
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Over the last two decades, Indonesia began to implement Public-Private Partnerships (PPPs) to provide an alternative mechanism for providing public infrastructure. The need to accelerate development, fulfil national demands and address mounting fiscal constraints are the reasons behind choosing PPP approach. One of the infrastructure projects using PPP mechanisms in Indonesia is Central Java Power Plant (CJPP) project, which is claimed to be the largest power plant in Southeast Asia. The project bidding was won by three consortia including ITOCHU Corporation, Adaro Power and J-Power, while the Government of Indonesia provided a guarantee for this project through the Ministry of Finance (MoF) and the Indonesia Infrastructure Guarantee Fund (IIGF). The project is built under Build, Operate, Own, and Transfer (BOOT) PPP model. In continuing academic research about PPP in general and CJPP in particular, this study was conducted with the aim of exploring critical issues and challenges in implementing PPPs in CJPP project. Three issues were chosen for particular examination, including governance, environment and social issues. This study was conducted by adopting a qualitative approach under a constructivist epistemology to gain meaning and knowledge from certain phenomena or specific circumstances, in this case, by using CJPP as a single case study. Document reviews, semi-structured interviews, and unstructured observation were carried out from July to September 2018 to gain information and perspectives from multilevel stakeholders who are in charge, involved in and were impacted by the implementation of PPP mechanism in CJPP. Stakeholder Analysis and Sustainable Livelihood Approach were taken as the framework for data analysis. This study found that top-down approach applied to implementing PPP in CJPP project left some governance issues and dynamics about power relations and regulations; conflicting stakeholders’ interests; communication and knowledge gaps; and dualism
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- 2019
211. Bottling the Colonial Unconscious: Ethical value networks and the commodification of fairness in the South African wine industry
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Murray, Warwick, Overton, John, Howson, Kelle, Murray, Warwick, Overton, John, and Howson, Kelle
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The rise of ethical certifications was greeted with optimism by scholars, activists and development practitioners, who predicted they would help to redistribute power and profit more equitably in South-North commodity trade, which has long been an engine of wealth extraction and underdevelopment in the resource periphery. The explicit attachment of value to the social and territorial origin of agro-food products would allow marginalised producers to resist corporate governance, race-to-the-bottom processes, and commodity fetishism. This would result in the retention of higher value at the production end of the chain, thereby fostering sustainable development in rural areas in the Global South. I investigate the extent to which power and profit is indeed redistributed more equitably in these new ‘ethical value networks’, through a case study of the South African wine industry. Complex apparatus of standards-setting, verification and auditing have formed the basis of strategies for post-apartheid transformation, redistribution and development in the South African wine industry, with progress conceptualised as taking place at the level of business. In this context, ethical certification constitutes a contemporary labour relations paradigm which in key ways reproduces ‘colonial unconscious’ discourses derived from the legacies of slavery, apartheid and farm paternalism. These embedded discursive power formations restrict the transformative potential of ethical certification. For ethical development to occur as a result of ethical value network formation, I argue that workers must gain greater agency and regulatory capability in the governance of these networks. I find also that ethical certification has not been an effective economic upgrading strategy for the South African wine industry. Instead, due to their deployment within oligopolistic networks, ethics have become commodified, and subject to neoliberal governance. Northern retailers have used their existing power
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- 2019
212. Gene-level analysis of rare variants in 379,066 whole exome sequences identifies an association of GIGYF1 loss of function with type 2 diabetes.
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Deaton, Aimee M., Parker, Margaret M., Ward, Lucas D., Flynn-Carroll, Alexander O., BonDurant, Lucas, Hinkle, Gregory, Akbari, Parsa, Lotta, Luca A., Regeneron Genetics Center, RGC Management and Leadership Team, Abecasis, Goncalo, Baras, Aris, Cantor, Michael, Coppola, Giovanni, Economides, Aris, Overton, John D., Reid, Jeffrey G., Shuldiner, Alan, Karalis, Katia, and Deubler, Andrew
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TYPE 2 diabetes ,GENETIC variation ,HUMAN genetics ,DIABETES ,DIAGNOSIS ,EXOMES - Abstract
Sequencing of large cohorts offers an unprecedented opportunity to identify rare genetic variants and to find novel contributors to human disease. We used gene-based collapsing tests to identify genes associated with glucose, HbA1c and type 2 diabetes (T2D) diagnosis in 379,066 exome-sequenced participants in the UK Biobank. We identified associations for variants in GCK, HNF1A and PDX1, which are known to be involved in Mendelian forms of diabetes. Notably, we uncovered novel associations for GIGYF1, a gene not previously implicated by human genetics in diabetes. GIGYF1 predicted loss of function (pLOF) variants associated with increased levels of glucose (0.77 mmol/L increase, p = 4.42 × 10
–12 ) and HbA1c (4.33 mmol/mol, p = 1.28 × 10–14 ) as well as T2D diagnosis (OR = 4.15, p = 6.14 × 10–11 ). Multiple rare variants contributed to these associations, including singleton variants. GIGYF1 pLOF also associated with decreased cholesterol levels as well as an increased risk of hypothyroidism. The association of GIGYF1 pLOF with T2D diagnosis replicated in an independent cohort from the Geisinger Health System. In addition, a common variant association for glucose and T2D was identified at the GIGYF1 locus. Our results highlight the role of GIGYF1 in regulating insulin signaling and protecting from diabetes. [ABSTRACT FROM AUTHOR]- Published
- 2021
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213. Genome‐wide association analysis of serum alanine and aspartate aminotransferase, and the modifying effects of BMI in 388k European individuals.
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Gao, Chuan, Marcketta, Anthony, Backman, Joshua D., O'Dushlaine, Colm, Staples, Jeffrey, Ferreira, Manuel Allen Revez, Lotta, Luca A., Overton, John D., Reid, Jeffrey G., Mirshahi, Tooraj, Regeneron Genetics Center, Geisinger Regeneron Discovehr Collaboration, Baras, Aris, Abecasis, Gonçalo, Shuldiner, Alan R., Van Hout, Cristopher V., and McCarthy, Shane
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- 2021
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214. UGT1A1genetic variants are associated with increases in bilirubin levels in rheumatoid arthritis patients treated with sarilumab
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Lin, Nan, Damask, Amy, Boyapati, Anita, Hamilton, Jennifer D., Hamon, Sara, Ternes, Nils, Nivens, Michael C., Penn, John, Lopez, Alexander, Reid, Jeffrey G., Overton, John, Shuldiner, Alan R., Abecasis, Goncalo, Baras, Aris, and Paulding, Charles
- Abstract
Sarilumab is a human monoclonal antibody against interleukin (IL)-6Rα that has been approved for the treatment of adult patients with moderately to severely active rheumatoid arthritis (RA) and an inadequate response or intolerance to one or more disease-modifying antirheumatic drugs (DMARDs). Mild liver function test abnormalities have been observed in patients treated with sarilumab. We describe a genome-wide association study of bilirubin elevations in RA patients treated with sarilumab. Array genotyping and exome sequencing were performed on DNA samples from 1075 patients. Variants in the UGT1A1gene were strongly associated with maximum bilirubin elevations in sarilumab-treated patients (rs4148325; p= 2.88 × 10−41) but were not associated with aminotransferase elevations. No other independent loci showed evidence of association with bilirubin elevations after sarilumab treatment. These findings suggest that most bilirubin increases during sarilumab treatment are related to genetic variation in UGT1A1rather than underlying liver injury.
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- 2022
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215. Dosimetry Modeling of Inhaled Formaldehyde: The Human Respiratory Tract
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Overton, John H., Kimbell, Julia S., and Miller, Frederick J.
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- 2001
216. Causal Effect of Adiposity Measures on Blood Pressure Traits in 2 Urban Swedish Cohorts: A Mendelian Randomization Study.
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Giontella, Alice, Lotta, Luca A., Overton, John D., Baras, Aris, Center, Regeneron Genetics, Minuz, Pietro, Melander, Olle, Gill, Dipender, Fava, Cristiano, and Regeneron Genetics Center
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- 2021
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217. Large-scale exome datasets reveal a new class of adaptor-related protein complex 2 sigma subunit (AP2 sigma) mutations, located at the interface with the AP2 alpha subunit, that impair calcium-sensing receptor signalling
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Gorvin, Caroline M, Metpally, Raghu, Stokes, Victoria J, Hannan, Fadil M, Krishnamurthy, Sarath B, Overton, John D, Reid, Jeffrey G, Breitwieser, Gerda E, and Thakker, Rajesh V
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- 2018
218. Student perceptions of effective lecturers: the need to recognise the role of ethnicity and choice of discipline
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Radmehr, Farzad, primary, Laban, Hon Luamanuvao Winnie, additional, Overton, John, additional, and Bakker, Leon, additional
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- 2019
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219. Expanding the field of Responsible Research and Innovation (RRI) – from responsible research to responsible innovation
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Jakobsen, Stig-Erik, primary, Fløysand, Arnt, additional, and Overton, John, additional
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- 2019
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220. Epidemiology of DYT1 dystonia
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Park, Joseph, primary, Damrauer, Scott M., additional, Baras, Aris, additional, Reid, Jeffrey G., additional, Overton, John D., additional, and Gonzalez-Alegre, Pedro, additional
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- 2019
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221. Rural idylls and urban economies: the making of metropolitan wine regions
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Overton, John, primary
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- 2019
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222. Doing good by drinking wine? Ethical value networks and upscaling of wine production in Australia, New Zealand and South Africa
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Overton, John, primary, Murray, Warwick E., additional, and Howson, Kelle, additional
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- 2019
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223. Contextualising empowerment: highlighting key elements from women’s stories of empowerment
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Muchtar, Adinda Tenriangke, primary, Overton, John, additional, and Palomino-Schalscha, Marcela, additional
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- 2019
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224. IDENTIFICATION AND RESULTS DISCLOSURE: OF RARE, PATHOGENIC COPY NUMBER VARIANTS TO ADULT RESEARCH PARTICIPANTS WITH DEVELOPMENTAL BRAIN DISORDERS
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Finucane, Brenda, primary, Wain, Karen, additional, Palen, Emily, additional, Kasparson, Lauren, additional, Hare-Harris, Abby, additional, Overton, John, additional, Habegger, Lukas, additional, Maxwell, Evan, additional, Reid, Jeffrey, additional, Martin, Christa L., additional, and Ledbetter, David H., additional
- Published
- 2019
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225. Genome-wide analysis provides genetic evidence that ACE2 influences COVID-19 risk and yields risk scores associated with severe disease
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Horowitz, Julie E., Kosmicki, Jack A., Damask, Amy, Sharma, Deepika, Roberts, Genevieve H. L., Justice, Anne E., Banerjee, Nilanjana, Coignet, Marie V., Yadav, Ashish, Leader, Joseph B., Marcketta, Anthony, Park, Danny S., Lanche, Rouel, Maxwell, Evan, Knight, Spencer C., Bai, Xiaodong, Guturu, Harendra, Sun, Dylan, Baltzell, Asher, Kury, Fabricio S. P., Backman, Joshua D., Girshick, Ahna R., O’Dushlaine, Colm, McCurdy, Shannon R., Partha, Raghavendran, Mansfield, Adam J., Turissini, David A., Li, Alexander H., Zhang, Miao, Mbatchou, Joelle, Watanabe, Kyoko, Gurski, Lauren, McCarthy, Shane E., Kang, Hyun M., Dobbyn, Lee, Stahl, Eli, Verma, Anurag, Sirugo, Giorgio, Ritchie, Marylyn D., Jones, Marcus, Balasubramanian, Suganthi, Siminovitch, Katherine, Salerno, William J., Shuldiner, Alan R., Rader, Daniel J., Mirshahi, Tooraj, Locke, Adam E., Marchini, Jonathan, Overton, John D., Carey, David J., Habegger, Lukas, Cantor, Michael N., Rand, Kristin A., Hong, Eurie L., Reid, Jeffrey G., Ball, Catherine A., Baras, Aris, Abecasis, Gonçalo R., and Ferreira, Manuel A. R.
- Abstract
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) enters human host cells via angiotensin-converting enzyme 2 (ACE2) and causes coronavirus disease 2019 (COVID-19). Here, through a genome-wide association study, we identify a variant (rs190509934, minor allele frequency 0.2–2%) that downregulates ACE2expression by 37% (P= 2.7 × 10−8) and reduces the risk of SARS-CoV-2 infection by 40% (odds ratio = 0.60, P= 4.5 × 10−13), providing human genetic evidence that ACE2 expression levels influence COVID-19 risk. We also replicate the associations of six previously reported risk variants, of which four were further associated with worse outcomes in individuals infected with the virus (in/near LZTFL1, MHC, DPP9and IFNAR2). Lastly, we show that common variants define a risk score that is strongly associated with severe disease among cases and modestly improves the prediction of disease severity relative to demographic and clinical factors alone.
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- 2022
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226. Alprazolam-induced EEG spectral power changes in rhesus monkeys: a translational model for the evaluation of the behavioral effects of benzodiazepines.
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Berro, Lais F., Overton, John S., Reeves-Darby, Jaren A., and Rowlett, James K.
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RHESUS monkeys , *ELECTROENCEPHALOGRAPHY , *HUMAN behavior models , *BENZODIAZEPINES , *SLEEP stages , *BODY temperature , *SIGMA receptors - Abstract
Rationale: Benzodiazepines induce electroencephalography (EEG) changes in rodents and humans that are associated with distinct behavioral effects and have been proposed as quantitative biomarkers for GABAA receptor modulation. Specifically, central EEG beta and occipital EEG delta activity have been associated with anxiolysis and sedation, respectively. The extent to which nonhuman primates show the same dose- and topography-dependent effects remained unknown. Objectives: We aimed at establishing a nonhuman primate model for the evaluation of benzodiazepine EEG pharmacology. Methods: Four adult male rhesus monkeys were prepared with fully implantable telemetry devices that monitored activity, peripheral body temperature, and contained two EEG (central and occipital), one electromyography (EMG), and one electrooculography channel. We investigated daytime alprazolam-induced changes in EEG spectral power, sleep–wake states, EMG activity, locomotor activity, and body temperature. Alprazolam (0.01–1.8 mg/kg, i.m.) or vehicle was administered acutely, and telemetry recording was conducted for 1 h. Results: Daytime alprazolam dose-dependently increased central EEG power (including beta activity), increased occipital EEG delta power, and decreased occipital EEG alpha, theta, and sigma power. There was an ~8-fold difference in the potency of alprazolam to increase central EEG beta vs. occipital EEG delta activity (based on relative EEG power). The highest dose, which increased both central EEG beta and occipital EEG delta relative power, induced sedative effects (increased time spent in N1 and N2 sleep stages) and decreased peripheral body temperature and locomotor activity. Conclusions: Alprazolam induces dose- and topography-dependent EEG changes in rhesus monkeys and provides a valuable model for studying benzodiazepine pharmacology. [ABSTRACT FROM AUTHOR]
- Published
- 2021
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227. Mutation spectrum of NOD2 reveals recessive inheritance as a main driver of Early Onset Crohn's Disease.
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Horowitz, Julie E., Warner, Neil, Staples, Jeffrey, Crowley, Eileen, Gosalia, Nehal, Murchie, Ryan, Van Hout, Cristopher, Fiedler, Karoline, Welch, Gabriel, King, Alejandra Klauer, Reid, Jeffrey G., Overton, John D., Baras, Aris, Shuldiner, Alan R., Griffiths, Anne, Gottesman, Omri, Muise, Aleixo M., and Gonzaga-Jauregui, Claudia
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GENETIC mutation ,CROHN'S disease ,INFLAMMATORY bowel diseases ,ULCERATIVE colitis ,GENETICS of disease susceptibility - Abstract
Inflammatory bowel disease (IBD), clinically defined as Crohn's disease (CD), ulcerative colitis (UC), or IBD-unclassified, results in chronic inflammation of the gastrointestinal tract in genetically susceptible hosts. Pediatric onset IBD represents ≥ 25% of all IBD diagnoses and often presents with intestinal stricturing, perianal disease, and failed response to conventional treatments. NOD2 was the first and is the most replicated locus associated with adult IBD, to date. However, its role in pediatric onset IBD is not well understood. We performed whole-exome sequencing on a cohort of 1,183 patients with pediatric onset IBD (ages 0–18.5 years). We identified 92 probands with biallelic rare and low frequency NOD2 variants accounting for approximately 8% of our cohort, suggesting a Mendelian inheritance pattern of disease. Additionally, we investigated the contribution of recessive inheritance of NOD2 alleles in adult IBD patients from a large clinical population cohort. We found that recessive inheritance of NOD2 variants explains ~ 7% of cases in this adult IBD cohort, including ~ 10% of CD cases, confirming the observations from our pediatric IBD cohort. Exploration of EHR data showed that several of these adult IBD patients obtained their initial IBD diagnosis before 18 years of age, consistent with early onset disease. While it has been previously reported that carriers of more than one NOD2 risk alleles have increased susceptibility to Crohn's Disease (CD), our data formally demonstrate that recessive inheritance of NOD2 alleles is a mechanistic driver of early onset IBD, specifically CD, likely due to loss of NOD2 protein function. Collectively, our findings show that recessive inheritance of rare and low frequency deleterious NOD2 variants account for 7–10% of CD cases and implicate NOD2 as a Mendelian disease gene for early onset Crohn's Disease. [ABSTRACT FROM AUTHOR]
- Published
- 2021
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228. Tertiary Education Migration and Cook Islands' Development
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Overton, John, Raymond, Lea, Overton, John, and Raymond, Lea
- Abstract
In 2016, field research in the Cook Islands explored the correlation of migration, education and development in the Pacific by focussing on the impacts of tertiary education migration on the development of the Cook Islands. A total of 29 participants contributed to this research, most fitting into at least one of these three categories: a) returned tertiary education migrants b) non-returned education migrants, and c) Cook Islands Governmental officials. Depopulation is one of the greatest challenges for the Cook Islands today. While striving for rapid development and for meaningful participation in an ever-changing global economy, obtaining overseas university degrees is seen as an attractive option for many young Cook Islanders. It is not only seen as a way to contribute to the development of their home country, but to also ensure that opportunities for personal growth are abundant. With many fearing that the departure of the ‘brightest minds’ to overseas universities results in brain drain, this research explores the drivers for the decision-making regarding migration. It further discusses the lived realities of tertiary education migrants who chose to return home after obtaining an overseas university degree and the implications of this movement for the Cook Islands Government. This research found that the key drivers for the decision-making regarding tertiary education migration may not be reduced to the availability of quality university study, but that there is a variety of other factors that influence young Cook Islanders. Instead of preventing young promising Cook Islanders from leaving the country, this research suggests that the overseas diaspora could be a valuable resource to contribute to Cook Islands’ development. Further, this research found that strictly applying the neo-classical approach to migratory processes does not seem sufficient to explain the perceived hurdles and enablers for returned graduates from the Cook Islands.
- Published
- 2018
229. Exploring the Impact of Resettlement on Women: A Case Study of the Nam Mang 3 Hydropower Dam in Central Laos
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Overton, John, Lueyeevang, Singkham, Overton, John, and Lueyeevang, Singkham
- Abstract
Over the last decade, construction of hydropower dams has increased rapidly around the world, including in developing countries. For many countries including Laos, energy production and export play a significant role in promoting and boosting economic growth and development. Energy production generates substantial revenue and foreign exchange from exporting electricity and expands economic activity domestically. However, construction of hydropower dams also causes negative effects on the people who live at and around the dam site. Some local communities have been affected indirectly, while others require relocation to other areas bringing significant change, including for women. This research explores the impact of resettlement from hydropower dam creation on women by using the Nam Mang 3 hydropower dam in central Laos as a case study. This dam, completed in 2005, required the relocation of approximately 150 households from two villages at the dam site. The research draws on a social constructivist epistemology, qualitative methods including semi-structured interviews, and analysis of relevant policy documents. Interviews involved 18 participants including both male and female from the three affected villages. Results indicate that the resettlement of villagers by the Nam Mang 3 hydropower dam has generally improved living conditions of the resettled communities. Women were found to have greater opportunities to benefit from home-based business, employment and wage labouring. In addition, with better access to modern facilities and services, women have been able to save greater time from agricultural activities and divert this time saving to other economic activities. Overall, access to water supplies, roads, and transport have reduced women’s workload significantly. Access to improved health services and facilities have also improved women’s wellbeing. Girls have greater opportunities to attend school and seek employment in towns. However, this research identified
- Published
- 2018
230. The Decentralisation of Australia's Gender Equality and Women's Empowerment Strategy in Oro Province, Papua New Guinea
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Overton, John, Kiddle, Luke, Angoro, Camilla Ethel, Overton, John, Kiddle, Luke, and Angoro, Camilla Ethel
- Abstract
Women’s empowerment is the most recent approach to women in development. The inclusion of women’s empowerment in development policies has recently gained traction in Papua New Guinea (PNG). However, the effectiveness of such policies has been questioned in its efforts to support local women to improve their lives. This study was undertaken to understand Australia’s Official Development Assistance (ODA) to PNG in terms of the contribution of the Department of Foreign Affairs and Trade (DFAT) to supporting women’s empowerment in Oro province through the implementation of its Gender Equality and Women’s Empowerment Strategy 2016. With the huge gender inequality gap in PNG and the rise in Gender-Based Violence (GBV), women’s empowerment is an approach that can contribute to helping local women improve their lives. The purpose of this study was to understand the trickle-down effect of Australia’s ODA to subnational organisations in PNG, and its contributions to women’s empowerment in Oro province. The study used a qualitative approach involving policy document reviews and interviews with research participants. The key findings from this study show that there is no direct support to local women’s organisations in Oro province either from DFAT or the PNG government; there are some issues with implementation and ownership of DFAT’s Gender Equality and Women’s Empowerment Strategy and the PNG government’s gender policies in Oro province; and that women’s coalitions can be a vehicle for change in local communities in Oro province. This study offers benefits to DFAT programmes in PNG, and to national government agencies tasked to review their gender policies; as well as the Oro Provincial Administration; the Oro Provincial Government; and the Oro Provincial Council of Women. The study suggests topics for further research. It also suggests that DFAT’s Gender Equality and Women’s Empowerment Strategy, and its associated funding have the potential to improve women’s lives in Oro
- Published
- 2018
231. Exploring Family Characteristics, Individual Motivations and Social Norms Regarding Women’s Access to Tertiary Education in Laos
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Overton, John, Kiddle, Luke, Sounthongdeng, Kinnaphone, Overton, John, Kiddle, Luke, and Sounthongdeng, Kinnaphone
- Abstract
In aiming to graduate from Least Developed Countries status by 2020, and in joining the ASEAN Economic Community in 2015, the Government of Laos has been seeking to sustain a high rate of economic growth and to develop a skilled and proficient labour force. As such, economic development has been a focus of the government and developing skilled and proficient labour is important. Education, especially tertiary education, has also been a priority of the Government of Laos. However, the gender gap still exists in every education level with high fees just one barrier for women to get into higher education. Promoting women’s access to tertiary education is important for closing the gender gap and improving women’s livelihoods, as well as contributing to the country’s economic development. The research explores the main barriers to women’s access to tertiary education, concentrating on family characteristics, individual motivations and social norms. Utilising a feminist lens, qualitative research has been undertaken through semi-structured interviews. Thirty interviews were conducted, including women who were current students in tertiary education institutions and women who were not in any tertiary education institution. Information regarding tertiary education policies and implementation of these policies was also gathered from key information interviews and secondary information. The research found that family financial status is the main barrier for women to continue their education in higher education. When the family budget is limited, most parents prioritise the education of males. Furthermore, the perception that women have less opportunity to gain a job than men persists widely – and acts as a disincentive for women to access tertiary education.
- Published
- 2018
232. The Experiences of Development Practitioners and Challenges in Community Engagement in Laos
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Overton, John, Kiddle, Luke, Chanthavilay, Phothong, Overton, John, Kiddle, Luke, and Chanthavilay, Phothong
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Poverty alleviation is a top priority of the global development agenda. Laos is still on the list of Least Developed Countries as measured by the United Nations. Poverty in the Lao context is socially and culturally unique. The Government of Laos works collaboratively with development partners and non-governmental organisations to overcome poverty through development programmes throughout the country. However, the universal development and poverty definitions, including the development and poverty interventions which are influenced by such definitions, do not necessarily match the local contexts and practices. This thesis examines development practice and community engagement in the Lao context through exploring experiences and perspectives of development practitioners who have worked in and engaged with community development in Laos. The thesis adopts a qualitative approach, drawing upon a social constructivist epistemology and a postcolonial framework. Semi-structured interviews, a form of qualitative methodologies, were employed for data collection. The interviews involved thirteen participants from both governmental and non-governmental organisations, and included both local development workers and expatriates. The focus of interviews was to investigate experiences of and opinions about their development practice and community engagement in Laos. The findings reveal that development practice in Laos requires sufficient time to understand and learn about communities and their actual problems. Development discourses have conceptualised understandings associated with development and this has shaped how governments, donors, development partners, policymakers and development practitioners perceive mainstream development. The conceptualisation was mainly influenced by Western ideologies and was undeniably a legacy of colonialism. Participatory development approaches have been recommended by all research participants as one of the most effective approaches to bring abo
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- 2018
233. Livelihood Impacts of Smallholder Rubber Plantations: Case Studies of Two Communities in Vientiane Province, Lao PDR
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Overton, John, Kiddle, Luke, Onta, Alounxay, Overton, John, Kiddle, Luke, and Onta, Alounxay
- Abstract
In Laos rubber plantation investment has increased significantly in recent years, supported by the Government. Farmers decide to cultivate rubber trees in order to generate greater income and diversify their agricultural activities. However, rubber planting also creates impacts on the livelihoods of farmers. This research aims to examine the impacts of rubber plantations on two communities in Vientiane Province. Utilising the sustainable livelihood framework, this research seeks to understand how the introduction of rubber plantations affect livelihood activities, the local land use system, and the environment in the case study communities. Key positive impacts include increased income and job opportunities. However, increased rubber planting reduces the availability of land for crops and livestock rearing and also creates some adverse environmental impacts. Overall, rubber production significantly modifies local agricultural production systems and resource use decision making in communities.
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- 2018
234. Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes.
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Gusarova, Viktoria, Gusarova, Viktoria, O'Dushlaine, Colm, Teslovich, Tanya M, Benotti, Peter N, Mirshahi, Tooraj, Gottesman, Omri, Van Hout, Cristopher V, Murray, Michael F, Mahajan, Anubha, Nielsen, Jonas B, Fritsche, Lars, Wulff, Anders Berg, Gudbjartsson, Daniel F, Sjögren, Marketa, Emdin, Connor A, Scott, Robert A, Lee, Wen-Jane, Small, Aeron, Kwee, Lydia C, Dwivedi, Om Prakash, Prasad, Rashmi B, Bruse, Shannon, Lopez, Alexander E, Penn, John, Marcketta, Anthony, Leader, Joseph B, Still, Christopher D, Kirchner, H Lester, Mirshahi, Uyenlinh L, Wardeh, Amr H, Hartle, Cassandra M, Habegger, Lukas, Fetterolf, Samantha N, Tusie-Luna, Teresa, Morris, Andrew P, Holm, Hilma, Steinthorsdottir, Valgerdur, Sulem, Patrick, Thorsteinsdottir, Unnur, Rotter, Jerome I, Chuang, Lee-Ming, Damrauer, Scott, Birtwell, David, Brummett, Chad M, Khera, Amit V, Natarajan, Pradeep, Orho-Melander, Marju, Flannick, Jason, Lotta, Luca A, Willer, Cristen J, Holmen, Oddgeir L, Ritchie, Marylyn D, Ledbetter, David H, Murphy, Andrew J, Borecki, Ingrid B, Reid, Jeffrey G, Overton, John D, Hansson, Ola, Groop, Leif, Shah, Svati H, Kraus, William E, Rader, Daniel J, Chen, Yii-Der I, Hveem, Kristian, Wareham, Nicholas J, Kathiresan, Sekar, Melander, Olle, Stefansson, Kari, Nordestgaard, Børge G, Tybjærg-Hansen, Anne, Abecasis, Goncalo R, Altshuler, David, Florez, Jose C, Boehnke, Michael, McCarthy, Mark I, Yancopoulos, George D, Carey, David J, Shuldiner, Alan R, Baras, Aris, Dewey, Frederick E, Gromada, Jesper, Gusarova, Viktoria, Gusarova, Viktoria, O'Dushlaine, Colm, Teslovich, Tanya M, Benotti, Peter N, Mirshahi, Tooraj, Gottesman, Omri, Van Hout, Cristopher V, Murray, Michael F, Mahajan, Anubha, Nielsen, Jonas B, Fritsche, Lars, Wulff, Anders Berg, Gudbjartsson, Daniel F, Sjögren, Marketa, Emdin, Connor A, Scott, Robert A, Lee, Wen-Jane, Small, Aeron, Kwee, Lydia C, Dwivedi, Om Prakash, Prasad, Rashmi B, Bruse, Shannon, Lopez, Alexander E, Penn, John, Marcketta, Anthony, Leader, Joseph B, Still, Christopher D, Kirchner, H Lester, Mirshahi, Uyenlinh L, Wardeh, Amr H, Hartle, Cassandra M, Habegger, Lukas, Fetterolf, Samantha N, Tusie-Luna, Teresa, Morris, Andrew P, Holm, Hilma, Steinthorsdottir, Valgerdur, Sulem, Patrick, Thorsteinsdottir, Unnur, Rotter, Jerome I, Chuang, Lee-Ming, Damrauer, Scott, Birtwell, David, Brummett, Chad M, Khera, Amit V, Natarajan, Pradeep, Orho-Melander, Marju, Flannick, Jason, Lotta, Luca A, Willer, Cristen J, Holmen, Oddgeir L, Ritchie, Marylyn D, Ledbetter, David H, Murphy, Andrew J, Borecki, Ingrid B, Reid, Jeffrey G, Overton, John D, Hansson, Ola, Groop, Leif, Shah, Svati H, Kraus, William E, Rader, Daniel J, Chen, Yii-Der I, Hveem, Kristian, Wareham, Nicholas J, Kathiresan, Sekar, Melander, Olle, Stefansson, Kari, Nordestgaard, Børge G, Tybjærg-Hansen, Anne, Abecasis, Goncalo R, Altshuler, David, Florez, Jose C, Boehnke, Michael, McCarthy, Mark I, Yancopoulos, George D, Carey, David J, Shuldiner, Alan R, Baras, Aris, Dewey, Frederick E, and Gromada, Jesper
- Abstract
Angiopoietin-like 4 (ANGPTL4) is an endogenous inhibitor of lipoprotein lipase that modulates lipid levels, coronary atherosclerosis risk, and nutrient partitioning. We hypothesize that loss of ANGPTL4 function might improve glucose homeostasis and decrease risk of type 2 diabetes (T2D). We investigate protein-altering variants in ANGPTL4 among 58,124 participants in the DiscovEHR human genetics study, with follow-up studies in 82,766 T2D cases and 498,761 controls. Carriers of p.E40K, a variant that abolishes ANGPTL4 ability to inhibit lipoprotein lipase, have lower odds of T2D (odds ratio 0.89, 95% confidence interval 0.85-0.92, p = 6.3 × 10-10), lower fasting glucose, and greater insulin sensitivity. Predicted loss-of-function variants are associated with lower odds of T2D among 32,015 cases and 84,006 controls (odds ratio 0.71, 95% confidence interval 0.49-0.99, p = 0.041). Functional studies in Angptl4-deficient mice confirm improved insulin sensitivity and glucose homeostasis. In conclusion, genetic inactivation of ANGPTL4 is associated with improved glucose homeostasis and reduced risk of T2D.
- Published
- 2018
235. Folauga mo A'oa'oaga: Migration for education and its impact on Samoa's development as a nation
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Overton, John, Ulu, Avataeao Junior, Overton, John, and Ulu, Avataeao Junior
- Abstract
The first recorded scholarship programme in Sāmoa began in the 1920s under the New Zealand Administration. Since that time, more and more students have travelled abroad for education both through sponsored and privately-funded programmes. This thesis examines the stories of 18 Sāmoan research participants who emigrated from their homes for western education. It examines how their experiences have contributed to the development of Sāmoa as a ‘nation’ “Folauga” is a common Sāmoan term for a “journey” and can be used in different contexts. The most common context for folauga is the literal journey where people travel from and arrive at a particular destination. There are many and diverse motivation ns leading to the decision of the 18 research participants to migrate. However, no decision was made independently. With the support and assistance of their respective āiga (family), they were never alone. From birth they were taught the value of the āiga and fa’a Sāmoa (the Sāmoan way) and when they studied abroad their āiga were at the forefront of their minds, but so too was fa’a Sāmoa. These 18 research participants excelled in both the western and Sāmoan worlds. They gained qualifications and experience that supported their āiga, and ultimately benefited Sāmoa as a ‘nation’. The 18 participants did not all return to Sāmoa to live permanently. Some moved to Fiji and others to New Zealand. This should not be viewed negatively because through transnationalism, Sāmoan migrants are very much connected to their homelands through money, goods of many different kinds, artefacts, ideas and symbols. Their migration often involves individuals, families, groups and institutions. It is important however to define ‘Sāmoa’ in the context of this argument. Sāmoa has two constructions of place and of people: the first is Sāmoa as a land-mass and geo-political-legal jurisdiction that is centred on the land and sea and is vital in acknowledging roots and a place of identity. The second co
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- 2018
236. Exome sequencing and analysis of 454,787 UK Biobank participants
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Backman, Joshua D., Li, Alexander H., Marcketta, Anthony, Sun, Dylan, Mbatchou, Joelle, Kessler, Michael D., Benner, Christian, Liu, Daren, Locke, Adam E., Balasubramanian, Suganthi, Yadav, Ashish, Banerjee, Nilanjana, Gillies, Christopher E., Damask, Amy, Liu, Simon, Bai, Xiaodong, Hawes, Alicia, Maxwell, Evan, Gurski, Lauren, Watanabe, Kyoko, Kosmicki, Jack A., Rajagopal, Veera, Mighty, Jason, Jones, Marcus, Mitnaul, Lyndon, Stahl, Eli, Coppola, Giovanni, Jorgenson, Eric, Habegger, Lukas, Salerno, William J., Shuldiner, Alan R., Lotta, Luca A., Overton, John D., Cantor, Michael N., Reid, Jeffrey G., Yancopoulos, George, Kang, Hyun M., Marchini, Jonathan, Baras, Aris, Abecasis, Gonçalo R., and Ferreira, Manuel A. R.
- Abstract
A major goal in human genetics is to use natural variation to understand the phenotypic consequences of altering each protein-coding gene in the genome. Here we used exome sequencing1to explore protein-altering variants and their consequences in 454,787 participants in the UK Biobank study2. We identified 12 million coding variants, including around 1 million loss-of-function and around 1.8 million deleterious missense variants. When these were tested for association with 3,994 health-related traits, we found 564 genes with trait associations at P≤ 2.18 × 10−11. Rare variant associations were enriched in loci from genome-wide association studies (GWAS), but most (91%) were independent of common variant signals. We discovered several risk-increasing associations with traits related to liver disease, eye disease and cancer, among others, as well as risk-lowering associations for hypertension (SLC9A3R2), diabetes (MAP3K15, FAM234A) and asthma (SLC27A3). Six genes were associated with brain imaging phenotypes, including two involved in neural development (GBE1, PLD1). Of the signals available and powered for replication in an independent cohort, 81% were confirmed; furthermore, association signals were generally consistent across individuals of European, Asian and African ancestry. We illustrate the ability of exome sequencing to identify gene–trait associations, elucidate gene function and pinpoint effector genes that underlie GWAS signals at scale.
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- 2021
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237. Clinical Evaluation of the Polygenetic Background of Blood Pressure in the Population-Based Setting.
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Giontella, Alice, Sjögren, Marketa, Lotta, Luca A., Overton, John D., Baras, Aris, Minuz, Pietro, Fava, Cristiano, Melander, Olle, and Regeneron Genetics Center
- Abstract
The clinical value of the polygenetic component of blood pressure (BP) is commonly questioned. We evaluated a genetic risk score for BP (BP-GRS858), based on the most recently published genome-wide association studies variants that were significantly associated with either systolic BP or diastolic BP, for prediction of hypertension and cardiovascular end points. The genotyping was performed in 2 urban-based prospective cohorts: the Malmö Diet and Cancer (n=29 295) and the Malmö Preventive Project (n=9367) and a weighted BP-GRS858 based on 858 SNPs was calculated. At baseline, we found a difference of 9.0 mm Hg (systolic BP) and 4.8 mm Hg (diastolic BP) between the top and the bottom quartile of BP-GRS858. In Malmö Preventive Project, the top versus bottom quartile of BP-GRS858 was associated with a doubled risk of incident hypertension (odds ratio, 2.05 [95% CI, 1.75-2.39], P=1.4×10-21), a risk higher than that of body mass index, as evaluated in quartiles. In Malmö Diet and Cancer, significant association was found between the age and sex-adjusted BP-GRS858 and the incidence of total cardiovascular events, stroke, coronary artery disease, heart failure, atrial fibrillation, and total mortality. Most of these associations remained significant after adjusting for traditional risk factors, including hypertension. BP-GRS858 could contribute predictive information regarding future hypertension, with an effect size comparable to other well-known risk factors such as obesity, and predicts cardiovascular events. Given that the exposure to high polygenetic risk starts at birth, we suggest that the BP-GRS858 might be useful to identify children or adolescents who would benefit from early hypertension screening and treatment. [ABSTRACT FROM AUTHOR]
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- 2021
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238. Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank
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Szustakowski, Joseph D., Balasubramanian, Suganthi, Kvikstad, Erika, Khalid, Shareef, Bronson, Paola G., Sasson, Ariella, Wong, Emily, Liu, Daren, Wade Davis, J., Haefliger, Carolina, Katrina Loomis, A., Mikkilineni, Rajesh, Noh, Hyun Ji, Wadhawan, Samir, Bai, Xiaodong, Hawes, Alicia, Krasheninina, Olga, Ulloa, Ricardo, Lopez, Alex E., Smith, Erin N., Waring, Jeffrey F., Whelan, Christopher D., Tsai, Ellen A., Overton, John D., Salerno, William J., Jacob, Howard, Szalma, Sandor, Runz, Heiko, Hinkle, Gregory, Nioi, Paul, Petrovski, Slavé, Miller, Melissa R., Baras, Aris, Mitnaul, Lyndon J., and Reid, Jeffrey G.
- Abstract
The UK Biobank Exome Sequencing Consortium (UKB-ESC) is a private–public partnership between the UK Biobank (UKB) and eight biopharmaceutical companies that will complete the sequencing of exomes for all ~500,000 UKB participants. Here, we describe the early results from ~200,000 UKB participants and the features of this project that enabled its success. The biopharmaceutical industry has increasingly used human genetics to improve success in drug discovery. Recognizing the need for large-scale human genetics data, as well as the unique value of the data access and contribution terms of the UKB, the UKB-ESC was formed. As a result, exome data from 200,643 UKB enrollees are now available. These data include ~10 million exonic variants—a rich resource of rare coding variation that is particularly valuable for drug discovery. The UKB-ESC precompetitive collaboration has further strengthened academic and industry ties and has provided teams with an opportunity to interact with and learn from the wider research community.
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- 2021
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- View/download PDF
239. List of contributors
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Bailetti, Lucia, Bauman, Matthew J., Beka, Rudin, Bertella, Giovanna, Bhaird, Ciarán Macan, Bisignano, Angelo P., Boboc, Dan, Buiatti, Stefano, Cabras, Ignazio, Calvo-Porral, Cristina, Capitello, Roberta, Chakraborty, Jayjit, Chakraborty, Shantanu P., Cipollaro, Maria, Constantin, Florentina, Dhora, Romina, Diaconeasa, Maria C., Drishti, Elvisa, Dunn, Alison, Fabbrizzi, Sara, Francioni, Barbara, Gilinsky, Armand, Guglielmotti, Manfredi, Halland, Hilde, Huntzinger, Andrea, Istudor, Nicolae, Jiang, Shan (Jaki), Johnson, Colin, Lindblom, Klara, Maehle, Natalia, Martin, Peter, Mitra, Dipa, Murray, Warwick E., Nelgen, Signe, Olsson, Emma Björk, Overton, John, Passaghe, Paolo, Paus, Marie, Pensel, Eva, Popescu, Gabriel, Reykdal, Ólafur, Santini, Cristina, Sottini, Veronica Alampi, Sperl, Arne, Supino, Stefania, Szolnoki, Gergely, Todirica, Ioana Claudia, Ulver, Sofia, Viganò, Elena, Wickham, Mark, Williams, Helena A., Williams, Robert L., Yuan, Jingxue (Jessica), and Zaharia, Alina
- Published
- 2021
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240. Boom city! Regional resource peripheries and urban economic development in Chile.
- Author
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Rehner, Johannes, Murray, Warwick E., Rodriguez, Sebastián, and Overton, John
- Subjects
URBAN community development ,ECONOMIC impact ,ECONOMIC expansion ,RESOURCE dependence theory ,RENT (Economic theory) - Abstract
Copyright of Area Development & Policy is the property of Taylor & Francis Ltd and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
- Published
- 2020
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241. Timing of apology after service failure: the moderating role of future interaction expectation on customer satisfaction.
- Author
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Min, Kyeong Sam, Jung, Jae Min, Ryu, Kisang, Haugtvedt, Curtis, Mahesh, Sathiadev, and Overton, John
- Subjects
QUALITY of service ,CUSTOMER satisfaction ,APOLOGIZING ,CONSUMER complaints - Abstract
When there is a service failure, it is often believed that employees should immediately apologize to customers before hearing their complaints. However, we argue that in certain situations, an employee can recover from a service failure more effectively if the employee apologizes after hearing customer complaints. A simple change in the sequential order of apologizing and listening to complaints can significantly impact customer satisfaction. We propose that customer satisfaction increases if an employee's apology timing is matched with customers' expectation to interact with the employee in the future. Across two studies, we consistently report that a responsive apology (i.e., listen-and-then-apologize) outperforms a preemptive apology (i.e., apologize-and-then-listen) when customers' interaction expectation is high. In contrast, the effectiveness of the responsive apology is weaker and even reversed when their interaction expectation is low. We also examine a boundary condition and a potential process likely responsible for this apology time sequence effect. [ABSTRACT FROM AUTHOR]
- Published
- 2020
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- View/download PDF
242. Student perceptions of effective lecturers: the need to recognise the role of ethnicity and choice of discipline.
- Author
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Radmehr, Farzad, Laban, Hon Luamanuvao Winnie, Overton, John, and Bakker, Leon
- Abstract
University student perceptions of effective teaching have been explored in previous studies, however, research is lacking regarding how perceptions of teaching efficacy vary by ethnicity and programme of study. In this study, student perceptions of effective teaching are explored between STEM (Science, Technology, Engineering, and Mathematics) and non-STEM major students of four ethnic groups: Europeans, Asians, Māori, and Pasifika. The study sample comprised 2073 students from a New Zealand university who completed a survey in 2016. Firstly, the findings indicated that non-STEM major students were more likely to report culturally knowledgeable as an important characteristic compared to STEM major students. Secondly, the distribution referring to content knowledgeable, creative, culturally knowledgeable, and passionate as characteristics of effective teaching was different between the four ethnic groups. In detail, Europeans and Māori were more likely to refer to content knowledgeable than Pasifika students, while Pasifika students were more likely to refer to culturally knowledgeable compared to Europeans. Furthermore, the highest percentage of referring to creative as a characteristic of effective teaching was for Asians, and the highest percentage of referring to passionate was for Māori students. The findings imply that lecturers should be well informed about these differences to be able to improve the quality of their teaching and student learning. [ABSTRACT FROM AUTHOR]
- Published
- 2020
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243. Patients With High Genome-Wide Polygenic Risk Scores for Coronary Artery Disease May Receive Greater Clinical Benefit From Alirocumab Treatment in the ODYSSEY OUTCOMES Trial.
- Author
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Damask, Amy, Steg, P. Gabriel, Schwartz, Gregory G., Szarek, Michael, Hagström, Emil, Badimon, Lina, Chapman, M. John, Boileau, Catherine, Tsimikas, Sotirios, Ginsberg, Henry N., Banerjee, Poulabi, Manvelian, Garen, Pordy, Robert, Hess, Sibylle, Overton, John D., Lotta, Luca A., Yancopoulos, George D., Abecasis, Goncalo R., Baras, Aris, and Paulding, Charles
- Published
- 2020
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244. Clinical and Molecular Prevalence of Lipodystrophy in an Unascertained Large Clinical Care Cohort.
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Gonzaga-Jauregui, Claudia, Wenzhen Ge, Staples, Jeffrey, Van Hout, Cristopher, Yadav, Ashish, Colonie, Ryan, Leader, Joseph B., Kirchner, H. Lester, Murray, Michael F., Reid, Jeffrey G., Carey, David J., Overton, John D., Shuldiner, Alan R., Gottesman, Omri, Gao, Steve, Gromada, Jesper, Baras, Aris, Altarejos, Judith, Ge, Wenzhen, and Geisinger-Regeneron DiscovEHR collaboration
- Subjects
LIPODYSTROPHY ,ELECTRONIC health records ,DYSLIPIDEMIA ,METABOLIC disorders ,GENETIC disorders ,DISEASE prevalence - Abstract
Lipodystrophies are a group of disorders characterized by absence or loss of adipose tissue and abnormal fat distribution, commonly accompanied by metabolic dysregulation. Although considered rare disorders, their prevalence in the general population is not well understood. We aimed to evaluate the clinical and genetic prevalence of lipodystrophy disorders in a large clinical care cohort. We interrogated the electronic health record (EHR) information of >1.3 million adults from the Geisinger Health System for lipodystrophy diagnostic codes. We estimate a clinical prevalence of disease of 1 in 20,000 individuals. We performed genetic analyses in individuals with available genomic data to identify variants associated with inherited lipodystrophies and examined their EHR for comorbidities associated with lipodystrophy. We identified 16 individuals carrying the p.R482Q pathogenic variant in LMNA associated with Dunnigan familial partial lipodystrophy. Four had a clinical diagnosis of lipodystrophy, whereas the remaining had no documented clinical diagnosis despite having accompanying metabolic abnormalities. We observed a lipodystrophy-associated variant carrier frequency of 1 in 3,082 individuals in our cohort with substantial burden of metabolic dysregulation. We estimate a genetic prevalence of disease of ∼1 in 7,000 in the general population. Partial lipodystrophy is an underdiagnosed condition. and its prevalence, as defined molecularly, is higher than previously reported. Genetically guided stratification of patients with common metabolic disorders, like diabetes and dyslipidemia, is an important step toward precision medicine. [ABSTRACT FROM AUTHOR]
- Published
- 2020
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245. Land, Custom and Practice in the South Pacific
- Author
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Overton, John
- Subjects
Land, Custom and Practice in the South Pacific (Book) ,Books -- Book reviews - Abstract
Land, Custom and Practice in the South Pacific, edited by R Gerard Ward and Elizabeth Kingdon. Oakleigh, VIC: Cambridge University Press, 1995. ISBN 0-521-47289-X, xii + 290 pages. Cloth, A$80.00; […]
- Published
- 1997
246. Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay
- Author
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Morimoto, Marie, primary, Waller-Evans, Helen, additional, Ammous, Zineb, additional, Song, Xiaofei, additional, Strauss, Kevin A., additional, Pehlivan, Davut, additional, Gonzaga-Jauregui, Claudia, additional, Puffenberger, Erik G., additional, Holst, Charles R., additional, Karaca, Ender, additional, Brigatti, Karlla W., additional, Maguire, Emily, additional, Coban-Akdemir, Zeynep H., additional, Amagata, Akiko, additional, Lau, C. Christopher, additional, Chepa-Lotrea, Xenia, additional, Macnamara, Ellen, additional, Tos, Tulay, additional, Isikay, Sedat, additional, Nehrebecky, Michele, additional, Overton, John D., additional, Klein, Matthew, additional, Markello, Thomas C., additional, Posey, Jennifer E., additional, Adams, David R., additional, Lloyd-Evans, Emyr, additional, Lupski, James R., additional, Gahl, William A., additional, and Malicdan, May Christine V., additional
- Published
- 2018
- Full Text
- View/download PDF
247. Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease
- Author
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Williams, Katie B, primary, Brigatti, Karlla W, additional, Puffenberger, Erik G, additional, Gonzaga-Jauregui, Claudia, additional, Griffin, Laurie B, additional, Martinez, Erick D, additional, Wenger, Olivia K, additional, Yoder, Mark A, additional, Kandula, Vinay V R, additional, Fox, Michael D, additional, Demczko, Matthew M, additional, Poskitt, Laura, additional, Furuya, Katryn N, additional, Reid, Jeffrey G, additional, Overton, John D, additional, Baras, Aris, additional, Miles, Lili, additional, Radhakrishnan, Kadakkal, additional, Carson, Vincent J, additional, Antonellis, Anthony, additional, Jinks, Robert N, additional, and Strauss, Kevin A, additional
- Published
- 2018
- Full Text
- View/download PDF
248. Loss-of-Function ABCC8 Mutations in Pulmonary Arterial Hypertension
- Author
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Bohnen, Michael S., primary, Ma, Lijiang, additional, Zhu, Na, additional, Qi, Hongjian, additional, McClenaghan, Conor, additional, Gonzaga-Jauregui, Claudia, additional, Dewey, Frederick E., additional, Overton, John D., additional, Reid, Jeffrey G., additional, Shuldiner, Alan R., additional, Baras, Aris, additional, Sampson, Kevin J., additional, Bleda, Marta, additional, Hadinnapola, Charaka, additional, Haimel, Matthias, additional, Bogaard, Harm J., additional, Church, Colin, additional, Coghlan, Gerry, additional, Corris, Paul A., additional, Eyries, Mélanie, additional, Gibbs, J. Simon R., additional, Girerd, Barbara, additional, Houweling, Arjan C., additional, Humbert, Marc, additional, Guignabert, Christophe, additional, Kiely, David G., additional, Lawrie, Allan, additional, MacKenzie Ross, Rob V., additional, Martin, Jennifer M., additional, Montani, David, additional, Peacock, Andrew J., additional, Pepke-Zaba, Joanna, additional, Soubrier, Florent, additional, Suntharalingam, Jay, additional, Toshner, Mark, additional, Treacy, Carmen M., additional, Trembath, Richard C., additional, Vonk Noordegraaf, Anton, additional, Wharton, John, additional, Wilkins, Martin R., additional, Wort, Stephen J., additional, Yates, Katherine, additional, Gräf, Stefan, additional, Morrell, Nicholas W., additional, Krishnan, Usha, additional, Rosenzweig, Erika B., additional, Shen, Yufeng, additional, Nichols, Colin G., additional, Kass, Robert S., additional, and Chung, Wendy K., additional
- Published
- 2018
- Full Text
- View/download PDF
249. Exome Sequencing–Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants
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Manickam, Kandamurugu, primary, Buchanan, Adam H., additional, Schwartz, Marci L. B., additional, Hallquist, Miranda L. G., additional, Williams, Janet L., additional, Rahm, Alanna Kulchak, additional, Rocha, Heather, additional, Savatt, Juliann M., additional, Evans, Alyson E., additional, Butry, Loren M., additional, Lazzeri, Amanda L., additional, Lindbuchler, D’Andra M., additional, Flansburg, Carroll N., additional, Leeming, Rosemary, additional, Vogel, Victor G., additional, Lebo, Matthew S., additional, Mason-Suares, Heather M., additional, Hoskinson, Derick C., additional, Abul-Husn, Noura S., additional, Dewey, Frederick E., additional, Overton, John D., additional, Reid, Jeffrey G., additional, Baras, Aris, additional, Willard, Huntington F., additional, McCormick, Cara Z., additional, Krishnamurthy, Sarath B., additional, Hartzel, Dustin N., additional, Kost, Korey A., additional, Lavage, Daniel R., additional, Sturm, Amy C., additional, Frisbie, Lauren R., additional, Person, T. Nate, additional, Metpally, Raghu P., additional, Giovanni, Monica A., additional, Lowry, Lacy E., additional, Leader, Joseph B., additional, Ritchie, Marylyn D., additional, Carey, David J., additional, Justice, Anne E., additional, Kirchner, H. Lester, additional, Faucett, W. Andrew, additional, Williams, Marc S., additional, Ledbetter, David H., additional, and Murray, Michael F., additional
- Published
- 2018
- Full Text
- View/download PDF
250. KCNJ11 Mutation in One Family is Associated with Adult-Onset Rather than Neonatal-Onset Diabetes Mellitus
- Author
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Breidbart, Emily, primary, Golden, Lauren, additional, Gonzaga-Jauregui, Claudia, additional, Deng, Liyong, additional, Lanzano, Patricia, additional, LeDuc, Charles, additional, Guo, JianCheng, additional, Overton, John D., additional, Reid, Jeffery, additional, Shuldiner, Alan, additional, and Chung, Wendy K., additional
- Published
- 2018
- Full Text
- View/download PDF
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