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51. Decolorization of remazol brilliant blue R with laccase from Lentinus crinitus grown in agro-industrial by-products

Author: PATRÍCIA H. ALMEIDA, ANA CAROLINA C. DE OLIVEIRA, GENYFER P.N. DE SOUZA, JULIANA C. FRIEDRICH, GIANI A. LINDE, NELSON B. COLAUTO, and JULIANA S. DO VALLE
Subjects: Dye decolorization, ligninolytic enzymes, remazol brilliant blue R, white-rot fungi, Science
Abstract: ABSTRACT Lentinus crinitus is a white-rot fungus that produces laccase, an enzyme used for dye decolorization. Enzyme production depends on cultivation conditions, mainly agro-industrial by-products. We aimed to produce laccase from Lentinus crinitus with agro-industrial by-products for dye decolorization. Culture medium had coffee husk (CH) or citric pulp pellet (CP) and different nitrogen sources (urea, yeast extract, ammonium sulfate and sodium nitrate) at concentrations of 0, 0.7, 1.4, 2.8, 5.6 and 11.2 g/L. Enzymatic extract was used in the decolorization of remazol brilliant blue R. CH medium promoted greater laccase production than CP in all evaluated conditions. Urea provided the greatest laccase production for CH (37280 U/L) as well as for CP (34107 U/L). In CH medium, laccase activity was suppressed when carbon-to-nitrogen ratio changed from 4.5 to 1.56, but the other nitrogen concentrations did not affect laccase activity. For CP medium, reduction in carbon-to-nitrogen ratio from 6 to 1.76 increased laccase activity in 17%. The peak of laccase activity in CH medium occurred on the 11th day (41246 U/L) and in CP medium on the 12th day (32660 U/L). The maximum decolorization within 24 h was observed with CP enzymatic extract (74%) and with CH extract (76%).
Published: 2018
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52. Association of Left Atrial Function Index with Atrial Fibrillation and Cardiovascular Disease: The Framingham Offspring Study

Author: Mayank Sardana, Darleen Lessard, Connie W. Tsao, Nisha I. Parikh, Bruce A. Barton, Gregory Nah, Randell C. Thomas, Susan Cheng, Nelson B. Schiller, Jayashri R. Aragam, Gary F. Mitchell, Aditya Vaze, Emelia J. Benjamin, Ramachandran S. Vasan, and David D. McManus
Subjects: atrial fibrillation, cardiovascular disease, echocardiography, epidemiology, left atrium, Diseases of the circulatory (Cardiovascular) system, RC666-701
Abstract: BackgroundLeft atrial (LA) size, a marker of atrial structural remodeling, is associated with increased risk for atrial fibrillation (AF) and cardiovascular disease (CVD). LA function may also relate to AF and CVD, irrespective of LA structure. We tested the hypothesis that LA function index (LAFI), an echocardiographic index of LA structure and function, may better characterize adverse LA remodeling and predict incident AF and CVD than existing measures. Methods and ResultsIn 1786 Framingham Offspring Study eighth examination participants (mean age, 66±9 years; 53% women), we related LA diameter and LAFI (derived from the LA emptying fraction, left ventricular outflow tract velocity time integral, and indexed maximal LA volume) to incidence of AF and CVD on follow‐up. Over a median follow‐up of 8.3 years (range, 7.5–9.1 years), 145 participants developed AF and 139 developed CVD. Mean LAFI was 34.5±12.7. In adjusted Cox regression models, lower LAFI was associated with higher risk of incident AF (hazard ratio=3.83, 95% confidence interval=2.23–6.59, lowest [Q1] compared with highest [Q4] LAFI quartile) and over 2‐fold higher risk of incident CVD (hazard ratio=2.20, 95% confidence interval=1.32–3.68, Q1 versus Q4). Addition of LAFI, indexed maximum LA volume, or LA diameter to prediction models for AF or CVD did not significantly improve model discrimination for either outcome. ConclusionsIn our prospective investigation of a moderate‐sized community‐based sample, LAFI, a composite measure of LA size and function, was associated with incident AF and CVD. Addition of LAFI to the risk prediction models for AF or CVD, however, did not significantly improve their performance.
Published: 2018
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53. Proteomic analysis of heart failure hospitalization among patients with chronic kidney disease: The Heart and Soul Study.

Author: Ruth F Dubin, Mary Whooley, Alexander Pico, Peter Ganz, Nelson B Schiller, and Craig Meyer
Subjects: Medicine, Science
Abstract: BACKGROUND:Patients with chronic kidney disease (CKD) are at increased risk for heart failure (HF). We aimed to investigate differences in proteins associated with HF hospitalizations among patients with and without CKD in the Heart and Soul Study. METHODS AND RESULTS:We measured 1068 unique plasma proteins from baseline samples of 974 participants in The Heart and Soul Study who were followed for HF hospitalization over a median of 7 years. We sequentially applied forest regression and Cox survival analyses to select prognostic proteins. Among participants with CKD, four proteins were associated with HF at Bonferroni-level significance (p
Published: 2018
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54. Downscaling of national crop area statistics using drivers of cropland productivity measured at fine resolutions.

Author: Jingyu Song, Michael S Delgado, Paul V Preckel, and Nelson B Villoria
Subjects: Medicine, Science
Abstract: Despite substantial research and policy interest in pixel level cropland allocation data, few sources are available that span a large geographic area. The data used for much of this research are derived from complex modeling techniques that may include model simulation and other data processing. We develop a transparent econometric framework that uses pixel level biophysical measurements and aggregate cropland statistics to develop pixel level cropland allocation predictions. Such pixel level land use data can be used to investigate the impact of human activities on the environment. Validation exercises show that our approach is effective at downscaling cropland allocation to multiple levels of resolution.
Published: 2018
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55. Geospatial investigations in Colombia reveal variations in the distribution of mood and psychotic disorders

Author: Song, Janet, Ramírez, Mauricio Castaño, Okano, Justin T., Service, Susan K., de la Hoz, Juan, Díaz-Zuluaga, Ana M., Upegui, Cristian Vargas, Gallago, Cristian, Arias, Alejandro, Sánchez, Alexandra Valderrama, Teshiba, Terri, Sabatti, Chiara, Gur, Ruben C., Bearden, Carrie E., Escobar, Javier I., Reus, Victor I., Jaramillo, Carlos Lopez, Freimer, Nelson B., Olde Loohuis, Loes M., and Blower, Sally
Published: 2024
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56. Seroprevalence of Zika Virus in Wild African Green Monkeys and Baboons

Author: Connor R. Buechler, Adam L. Bailey, Andrea M. Weiler, Gabrielle L. Barry, Meghan E. Breitbach, Laurel M. Stewart, Anna J. Jasinska, Nelson B. Freimer, Cristian Apetrei, Jane E. Phillips-Conroy, Clifford J. Jolly, Jeffrey Rogers, Thomas C. Friedrich, and David H. O’Connor
Subjects: false-positive reactions, Flavivirus, sensitivity and specificity, seroepidemiologic studies, Zika virus, Zika virus infection, Microbiology, QR1-502
Abstract: ABSTRACT Zika virus (ZIKV) has recently spread through the Americas and has been associated with a range of health effects, including birth defects in children born to women infected during pregnancy. Although the natural reservoir of ZIKV remains poorly defined, the virus was first identified in a captive “sentinel” macaque monkey in Africa in 1947. However, the virus has not been reported in humans or nonhuman primates (NHPs) in Africa outside Gabon in over a decade. Here, we examine ZIKV infection in 239 wild baboons and African green monkeys from South Africa, the Gambia, Tanzania, and Zambia using combinations of unbiased deep sequencing, quantitative reverse transcription-PCR (qRT-PCR), and an antibody capture assay that we optimized using serum collected from captive macaque monkeys exposed to ZIKV, dengue virus, and yellow fever virus. While we did not find evidence of active ZIKV infection in wild NHPs in Africa, we found variable ZIKV seropositivity of up to 16% in some of the NHP populations sampled. We anticipate that these results and the methodology described within will help in continued efforts to determine the prevalence, natural reservoir, and transmission dynamics of ZIKV in Africa and elsewhere. IMPORTANCE Zika virus (ZIKV) is a mosquito-borne virus originally discovered in a captive monkey living in the Zika Forest of Uganda, Africa, in 1947. Recently, an outbreak in South America has shown that ZIKV infection can cause myriad health effects, including birth defects in the children of women infected during pregnancy. Here, we sought to investigate ZIKV infection in wild African primates to better understand its emergence and spread, looking for evidence of active or prior infection. Our results suggest that up to 16% of some populations of nonhuman primate were, at some point, exposed to ZIKV. We anticipate that this study will be useful for future studies that examine the spread of infections from wild animals to humans in general and those studying ZIKV in primates in particular. Podcast: A podcast concerning this article is available.
Published: 2017
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57. Mechanical Behavior of Inconel 625 at Elevated Temperatures

Author: Mauro M. de Oliveira, Antônio A. Couto, Gisele F. C. Almeida, Danieli A. P. Reis, Nelson B. de Lima, and Renato Baldan
Subjects: Inconel, high temperature, tensile test, creep, serrated, dynamic strain aging, Mining engineering. Metallurgy, TN1-997
Abstract: Inconel 625 is a nickel-based alloy that is mainly used in high-temperature applications. Inconel 625 exhibits an unstable plastic flow at elevated temperatures characterized by serrated yielding, well-known as the Portevin-Le Chatelier effect. The evaluation of the mechanical properties of Inconel 625 at high temperatures is the aim of this work. The tensile tests were executed in temperatures ranging from room temperature to 1000 °C with strain rates of 2 × 10−4 to 2 × 10−3 s−1. The creep tests were executed in the temperature range of 600–700 °C and in the stress range of 500–600 MPa in a constant load mode. The optical and scanning electron microscopes were used for surface fracture observation. In the curves obtained at 200–700 °C the serrated stress-strain behavior was observed, which was related to the dynamic strain aging effect. The yield strength and the elongation values show anomalous behavior as a function of the test temperature. An intergranular cracking was observed for a specimen tensile tested at 500 °C that can be attributed to the decohesion of the carbides along the grain boundaries. The fracture surface of the specimen tensile tested at 700 °C showed the predominance of transgranular cracking with tear dimples with a parabolic shape.
Published: 2019
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58. The Effect of Plasma Nitriding on the Fatigue Behavior of the Ti-6Al-4V Alloy

Author: Michele C. B. de Castro, Antônio A. Couto, Gisele F. C. Almeida, Marcos Massi, Nelson B. de Lima, Argemiro da Silva Sobrinho, Mariano Castagnet, Gleicy L. Xavier, and Rene R. Oliveira
Subjects: Ti-6Al-4V alloy, plasma nitriding, fatigue, Technology, Electrical engineering. Electronics. Nuclear engineering, TK1-9971, Engineering (General). Civil engineering (General), TA1-2040, Microscopy, QH201-278.5, Descriptive and experimental mechanics, QC120-168.85
Abstract: The Ti-6Al-4V alloy is widely used in the manufacture of components that must have low density and high corrosion resistance and fatigue strength. The fatigue strength can be improved by surface modification. The aim of this study was to determine the influence of plasma nitriding on the fatigue behavior of a Ti-6Al-4V alloy with a lamellar microstructure (Widmanstätten type). Nitriding was executed at 720 °C for 4 h in an atmosphere with N2, Ar, and H2. Microstructure characterization of the samples was carried out by X-ray diffraction analysis, optical microscopy, and scanning electron microscopy. The average roughness of the specimens was determined, and fatigue tests were executed in a bending⁻rotating machine with reverse tension cycles (R = −1). X-ray diffraction analysis of the nitrided alloy revealed the following matrix phases: α, β, ε-Ti2N, and δ-TiN. A nitrogen diffusion layer was formed between the substrate and the titanium nitrides. Plasma nitriding resulted in an increase in low-cycle fatigue strength, whereas at high cycles of 200 MPa, both conditions exhibited similar behaviors. The fracture surface of the fatigue-tested specimens clearly revealed the lamellar microstructure. The fracture mechanism in the non-nitrided specimens appears to be due to cracking at the interface of the α and β phases of the lamellar microstructure.
Published: 2019
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59. A review of global-local-global linkages in economic land-use/cover change models

Author: Thomas W Hertel, Thales A P West, Jan Börner, and Nelson B Villoria
Subjects: global change drivers, local sustainability, land use change, leakage, spillovers, Environmental technology. Sanitary engineering, TD1-1066, Environmental sciences, GE1-350, Science, Physics, QC1-999
Abstract: Global change drivers of land-use/cover change (LUCC) like population dynamics, economic development, and climate change are increasingly important to local sustainability studies, and can only be properly analyzed at fine-scales that capture local biophysical and socio-economic conditions. When sufficiently widespread, local feedback to stresses originating from global drivers can have regional, national, and even global impacts. A multiscale, global-to-local-to-global (GLG) framework is thus needed for comprehensive analyses of LUCC and leakage. The number of GLG-LUCC studies has grown substantially over the past years, but no reviews of this literature and their contributions have been completed so far. In fact, the largest body of literature pertains to global-to-local impacts exclusively, whereas research on local feedback to regional, national, and global spheres remain scarce, and are almost solely undertaken within large modeling institutes. As such, those are rarely readily accessible for modification and extension by outside contributors. This review of the recent GLG-LUCC studies calls for more open-source modeling and availability of data, arguing that the latter is the real constraint to more widespread analyses of GLG-LUCC impacts. Progress in this field will require contributions from hundreds of researchers around the world and from a wide variety of disciplines.
Published: 2019
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60. Climate shocks, food price stability and international trade: evidence from 76 maize markets in 27 net-importing countries

Author: Bowen Chen and Nelson B Villoria
Subjects: food imports, food price stability, climate change, maize markets, price volatility, Environmental technology. Sanitary engineering, TD1-1066, Environmental sciences, GE1-350, Science, Physics, QC1-999
Abstract: Do food imports increase the variability of domestic food prices? The answer to this question depends on whether foreign production is more volatile than domestic production. If imports are likely to destabilize domestic prices, storing crops for future consumption may prove an appealing strategy to cope with the adverse supply effects of a more unstable climate. Unfortunately, public storage has proven to be unsustainable due to the high costs of carrying crop inventories over time and the inability of policy planners to correctly forecast changes in domestic supply. Therefore, understanding the roles of imports and stocks on domestic food price instability is important as domestic shortfalls in food production are likely to become more frequent as the world’s climate becomes warmer. Using maize prices observed in 76 maize markets of 27 maize net importers across Africa, Asia and Latin America during 2000–2015, we find that, on average, a 1% increase in the ratio of imports to total consumption is correlated with a 0.29% reduction of the intra-annual coefficient of variation of maize prices; likewise a 1% increase in the amount of maize available in stocks at the beginning of the season is correlated with a 0.22% reduction in the said coefficient. We also find that climate-induced supply shocks toward mid-century may increase maize price variability in the focus countries by around 10%; these increases could be offset with similar increases in the ratio of imports to total consumption or in the stock-to-use ratio at the beginning of the crop marketing year. The fact that both imports and stocks help to stabilize domestic prices suggests that their uses should hinge on a careful cost-benefit analysis, including the risk of facing world production more variable than domestic production and the costs of carrying maize inventories over time.
Published: 2019
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61. Characterization of Expression Quantitative Trait Loci in Pedigrees from Colombia and Costa Rica Ascertained for Bipolar Disorder.

Author: Christine B Peterson, Susan K Service, Anna J Jasinska, Fuying Gao, Ivette Zelaya, Terri M Teshiba, Carrie E Bearden, Rita M Cantor, Victor I Reus, Gabriel Macaya, Carlos López-Jaramillo, Marina Bogomolov, Yoav Benjamini, Eleazar Eskin, Giovanni Coppola, Nelson B Freimer, and Chiara Sabatti
Subjects: Genetics, QH426-470
Abstract: The observation that variants regulating gene expression (expression quantitative trait loci, eQTL) are at a high frequency among SNPs associated with complex traits has made the genome-wide characterization of gene expression an important tool in genetic mapping studies of such traits. As part of a study to identify genetic loci contributing to bipolar disorder and other quantitative traits in members of 26 pedigrees from Costa Rica and Colombia, we measured gene expression in lymphoblastoid cell lines derived from 786 pedigree members. The study design enabled us to comprehensively reconstruct the genetic regulatory network in these families, provide estimates of heritability, identify eQTL, evaluate missing heritability for the eQTL, and quantify the number of different alleles contributing to any given locus. In the eQTL analysis, we utilize a recently proposed hierarchical multiple testing strategy which controls error rates regarding the discovery of functional variants. Our results elucidate the heritability and regulation of gene expression in this unique Latin American study population and identify a set of regulatory SNPs which may be relevant in future investigations of complex disease in this population. Since our subjects belong to extended families, we are able to compare traditional kinship-based estimates with those from more recent methods that depend only on genotype information.
Published: 2016
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62. The Contribution of GWAS Loci in Familial Dyslipidemias.

Author: Pietari Ripatti, Joel T Rämö, Sanni Söderlund, Ida Surakka, Niina Matikainen, Matti Pirinen, Päivi Pajukanta, Antti-Pekka Sarin, Susan K Service, Pirkka-Pekka Laurila, Christian Ehnholm, Veikko Salomaa, Richard K Wilson, Aarno Palotie, Nelson B Freimer, Marja-Riitta Taskinen, and Samuli Ripatti
Subjects: Genetics, QH426-470
Abstract: Familial combined hyperlipidemia (FCH) is a complex and common familial dyslipidemia characterized by elevated total cholesterol and/or triglyceride levels with over five-fold risk of coronary heart disease. The genetic architecture and contribution of rare Mendelian and common variants to FCH susceptibility is unknown. In 53 Finnish FCH families, we genotyped and imputed nine million variants in 715 family members with DNA available. We studied the enrichment of variants previously implicated with monogenic dyslipidemias and/or lipid levels in the general population by comparing allele frequencies between the FCH families and population samples. We also constructed weighted polygenic scores using 212 lipid-associated SNPs and estimated the relative contributions of Mendelian variants and polygenic scores to the risk of FCH in the families. We identified, across the whole allele frequency spectrum, an enrichment of variants known to elevate, and a deficiency of variants known to lower LDL-C and/or TG levels among both probands and affected FCH individuals. The score based on TG associated SNPs was particularly high among affected individuals compared to non-affected family members. Out of 234 affected FCH individuals across the families, seven (3%) carried Mendelian variants and 83 (35%) showed high accumulation of either known LDL-C or TG elevating variants by having either polygenic score over the 90th percentile in the population. The positive predictive value of high score was much higher for affected FCH individuals than for similar sporadic cases in the population. FCH is highly polygenic, supporting the hypothesis that variants across the whole allele frequency spectrum contribute to this complex familial trait. Polygenic SNP panels improve identification of individuals affected with FCH, but their clinical utility remains to be defined.
Published: 2016
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63. Effect of Plasma Nitriding on the Creep and Tensile Properties of the Ti-6Al-4V Alloy

Author: Gisele F. C. Almeida, Antônio A. Couto, Danieli A. P. Reis, Marcos Massi, Argemiro S. da Silva Sobrinho, and Nelson B. de Lima
Subjects: Ti-6Al-4V, plasma nitriding, hot tensile test, creep, Mining engineering. Metallurgy, TN1-997
Abstract: This work aimed to enhance the creep resistance of Ti-6Al-4V alloy treated by plasma nitriding. The nitriding was performed on specimens with a Widmanstätten microstructure for four hours at 690 °C under a gas atmosphere containing Ar:N2:H2 (0.455:0.455:0.090). X-ray diffraction analysis showed that the ε-Ti2N and δ-TiN formed on the nitrided sample, in addition to the α-Ti and β-Ti matrix phases. The layer thickness of this sample was about 1 µm. Hot tensile tests were performed in the temperature range of 500 to 700 °C on nitrided and non-nitrided samples, which indicated an increased strength of the nitrided samples. The same temperature range was used for the creep tests in a stress range of 125 to 319 MPa. The plasma-nitrided samples exhibited better creep resistance when compared to the untreated samples. This result was demonstrated by the decreased secondary creep rate and the increased final creep time. This improvement in the creep resistance appeared to be associated with the formation of the nitrided layer, which worked as a barrier to oxygen diffusion into the material and due to the formation of a surface residual compressive stress.
Published: 2018
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64. The Emerging Role of Tractography in Deep Brain Stimulation: Basic Principles and Current Applications

Author: Nelson B. Rodrigues, Karim Mithani, Ying Meng, Nir Lipsman, and Clement Hamani
Subjects: diffusion tensor imaging, tractography, deep brain stimulation, tremor, depression, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
Abstract: Diffusion tensor imaging (DTI) is an MRI-based technique that delineates white matter tracts in the brain by tracking the diffusion of water in neural tissue. This methodology, known as “tractography”, has been extensively applied in clinical neuroscience to explore nervous system architecture and diseases. More recently, tractography has been used to assist with neurosurgical targeting in functional neurosurgery. This review provides an overview of DTI principles, and discusses current applications of tractography for improving and helping develop novel deep brain stimulation (DBS) targets.
Published: 2018
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65. A Label-Free Electronic Biosensor for Detection of Bone Turnover Markers

Author: Mark J. Schulz, Amit Bhattacharya, Yeo-Heung Yun, and Nelson B. Watts
Subjects: immunosensor, label-free, electrochemical impedance, bone turnover marker, Chemical technology, TP1-1185
Abstract: This paper describes the development of a biosensor based on label-free immunosensing for the detection of the C-terminal telopeptide bone turnover marker from type-1 collagen. A self-assembled monolayer (SAM) of dithiodipropionic acid was deposited on a gold electrode. Then streptavidin and biotinylated anti-human C-terminal telopeptide antibody were successively conjugated on the self-assembled monolayer. Electrochemical impedance measurements were made to characterize each step of the SAM/streptavidin/biotinylated antibody binding. Subsequently, electrochemical impedance was measured with different concentrations of C-teminal telopeptide. A detection limit of 50 ng/mL and a dynamic range up to 3 μg/mL were achieved. To our knowledge, this is the first attempt to develop a label-free immunosensor based on electrochemical impedance with DC bias for detection of bone-related degradation and rebuilding products. The electronic biosensor might eventually be used for quantitative point-of-care screening of bone health. It is hoped that analysis of bone turnover markers can indicate the beginning of bone diseases such as osteoarthritis and osteoporosis so that treatment might start early when it is most effective.
Published: 2009
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66. Contemporary Surgery for Obstructive Sleep Apnea Syndrome

Author: Nelson B. Powell
Subjects: Obstructive sleep apnea, Airway reconstruction, Powell-Riley protocol, Contemporary surgery, Medicine, Otorhinolaryngology, RF1-547
Abstract: Surgical treatment of obstructive sleep apnea syndrome (OSAS) has been available in some form for greater than three decades. Early management for airway obstruction during sleep relied on tracheotomy which although life saving was not well accepted by patients. In the early eighties two new forms of treatment for OSAS were developed. Surgically a technique described as a uvulopalatopharyngoplasty (UPPP) was used to treat the retropalatal region for snoring and sleep apnea. Concurrently sleep medicine developed a nasal continuous positive airway pressure (CPAP) device to manage nocturnal airway obstruction. Both of these measures were used to expand and stabilize the pharyngeal airway space during sleep. The goal for each technique was to limit or alleviate OSAS. Almost 30 yr later these two treatment modalities continue to be the mainstay of contemporary treatment. As expected, CPAP device technology improved over time along with durable goods. Surgery followed suit and additional techniques were developed to treat soft and bony structures of the entire upper airway (nose, palate and tongue base). This review will only focus on the contemporary surgical methods that have demonstrated relatively consistent positive clinical outcomes. Not all surgical and medical treatment modalities are successful or even partially successful for every patient. Advances in the treatment of OSAS are hindered by the fact that the primary etiology is still unknown. However, both medicine and surgery continue to improve diagnostic and treatment methods. Methods of diagnosis as well as treatment regimens should always include both medical and surgical collaborations so the health and quality of life of our patients can best be served.
Published: 2009
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67. Prototyping a Serial Number Based Authentication Model for a Computer in a Wireless Local Area Network

Author: Chebor, John C., Karume, Simon M., Masese, Nelson B., and Kipkebut, Andrew
Subjects: Computer Science - Cryptography and Security, Computer Science - Networking and Internet Architecture
Abstract: With the increase of wireless LAN usage in homes and enterprises due to its numerous benefits, authenticating the ever increasing number of devices and their users has become a challenge to proprietors of such kind networks. A MAC address, a physical network address that is used as basis for this study, has a copy of its value in the system software that can be spoofed and altered rendering the address not unique, not secure and unreliable. On the contrary, a computers serial number is hard-coded in the system hardware only and therefore cannot be spoofed and altered making it unique, secure and reliable. The research, therefore, was aimed at designing a model that demonstrates how a computers serial number can be used for authenticating a computer in a wireless local area network. In order to achieve the research objective, the study examined the inbuilt access and use of a computers serial number prototype model as an alternative method of authenticating devices in a network. Design science research methodology that involved design and development, demonstration and model evaluation was employed. A Serial Number Based Authentication Prototype or SNAP was therefore designed using state chart and flow chart diagrams based on dynamic programming, developed over evolutionary prototyping and test run on a static experimental design using Java Development Kit and MySQL platforms to demonstrate, as proof of concept, that a computers serial number can be used to authenticate a computer in a wireless local area network. From the test runs whose outcomes were the binary values yes or no, it was found out that SNAP can actually allow or deny, enable or disable a computer in a network based on the computers serial number. The researcher therefore, recommends that the prototype be scaled up, then adopted as a network device authentication method., Comment: 13 pages, 11 figures
Published: 2022
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68. Echocardiographic estimation of pulmonary vascular resistance in advanced lung disease.

Author: DesJardin, Jacqueline T, Svetlichnaya, Yana, Kolaitis, Nicholas A, Hays, Steven R, Kukreja, Jasleen, Schiller, Nelson B, Zier, Lucas S, Singer, Jonathan P, and De Marco, Teresa
Subjects: chronic obstructive pulmonary disease, hemodynamics, interstitial lung disease, lung transplant, pulmonary hypertension, Cardiovascular, Bioengineering, Heart Disease, Lung, Clinical Research, Respiratory, Good Health and Well Being, Cardiorespiratory Medicine and Haematology
Abstract: Noninvasive assessment of pulmonary hemodynamics is often performed by echocardiographic estimation of the pulmonary artery systolic pressure (ePASP), despite limitations in the advanced lung disease population. Other noninvasive hemodynamic variables, such as echocardiographic pulmonary vascular resistance (ePVR), have not been studied in this population. We performed a retrospective analysis of 147 advanced lung disease patients who received both echocardiography and right heart catheterization for lung transplant evaluation. The ePVR was estimated by four previously described equations. Noninvasive and invasive hemodynamic parameters were compared in terms of correlation, agreement, and accuracy. The ePVR models strongly correlated with invasively determined PVR and had good accuracy with biases of
Published: 2023

69. Distribution and medical impact of loss-of-function variants in the Finnish founder population.

Author: Elaine T Lim, Peter Würtz, Aki S Havulinna, Priit Palta, Taru Tukiainen, Karola Rehnström, Tõnu Esko, Reedik Mägi, Michael Inouye, Tuuli Lappalainen, Yingleong Chan, Rany M Salem, Monkol Lek, Jason Flannick, Xueling Sim, Alisa Manning, Claes Ladenvall, Suzannah Bumpstead, Eija Hämäläinen, Kristiina Aalto, Mikael Maksimow, Marko Salmi, Stefan Blankenberg, Diego Ardissino, Svati Shah, Benjamin Horne, Ruth McPherson, Gerald K Hovingh, Muredach P Reilly, Hugh Watkins, Anuj Goel, Martin Farrall, Domenico Girelli, Alex P Reiner, Nathan O Stitziel, Sekar Kathiresan, Stacey Gabriel, Jeffrey C Barrett, Terho Lehtimäki, Markku Laakso, Leif Groop, Jaakko Kaprio, Markus Perola, Mark I McCarthy, Michael Boehnke, David M Altshuler, Cecilia M Lindgren, Joel N Hirschhorn, Andres Metspalu, Nelson B Freimer, Tanja Zeller, Sirpa Jalkanen, Seppo Koskinen, Olli Raitakari, Richard Durbin, Daniel G MacArthur, Veikko Salomaa, Samuli Ripatti, Mark J Daly, Aarno Palotie, and Sequencing Initiative Suomi (SISu) Project
Subjects: Genetics, QH426-470
Abstract: Exome sequencing studies in complex diseases are challenged by the allelic heterogeneity, large number and modest effect sizes of associated variants on disease risk and the presence of large numbers of neutral variants, even in phenotypically relevant genes. Isolated populations with recent bottlenecks offer advantages for studying rare variants in complex diseases as they have deleterious variants that are present at higher frequencies as well as a substantial reduction in rare neutral variation. To explore the potential of the Finnish founder population for studying low-frequency (0.5-5%) variants in complex diseases, we compared exome sequence data on 3,000 Finns to the same number of non-Finnish Europeans and discovered that, despite having fewer variable sites overall, the average Finn has more low-frequency loss-of-function variants and complete gene knockouts. We then used several well-characterized Finnish population cohorts to study the phenotypic effects of 83 enriched loss-of-function variants across 60 phenotypes in 36,262 Finns. Using a deep set of quantitative traits collected on these cohorts, we show 5 associations (p
Published: 2014
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70. Re-sequencing expands our understanding of the phenotypic impact of variants at GWAS loci.

Author: Susan K Service, Tanya M Teslovich, Christian Fuchsberger, Vasily Ramensky, Pranav Yajnik, Daniel C Koboldt, David E Larson, Qunyuan Zhang, Ling Lin, Ryan Welch, Li Ding, Michael D McLellan, Michele O'Laughlin, Catrina Fronick, Lucinda L Fulton, Vincent Magrini, Amy Swift, Paul Elliott, Marjo-Riitta Jarvelin, Marika Kaakinen, Mark I McCarthy, Leena Peltonen, Anneli Pouta, Lori L Bonnycastle, Francis S Collins, Narisu Narisu, Heather M Stringham, Jaakko Tuomilehto, Samuli Ripatti, Robert S Fulton, Chiara Sabatti, Richard K Wilson, Michael Boehnke, and Nelson B Freimer
Subjects: Genetics, QH426-470
Abstract: Genome-wide association studies (GWAS) have identified >500 common variants associated with quantitative metabolic traits, but in aggregate such variants explain at most 20-30% of the heritable component of population variation in these traits. To further investigate the impact of genotypic variation on metabolic traits, we conducted re-sequencing studies in >6,000 members of a Finnish population cohort (The Northern Finland Birth Cohort of 1966 [NFBC]) and a type 2 diabetes case-control sample (The Finland-United States Investigation of NIDDM Genetics [FUSION] study). By sequencing the coding sequence and 5' and 3' untranslated regions of 78 genes at 17 GWAS loci associated with one or more of six metabolic traits (serum levels of fasting HDL-C, LDL-C, total cholesterol, triglycerides, plasma glucose, and insulin), and conducting both single-variant and gene-level association tests, we obtained a more complete understanding of phenotype-genotype associations at eight of these loci. At all eight of these loci, the identification of new associations provides significant evidence for multiple genetic signals to one or more phenotypes, and at two loci, in the genes ABCA1 and CETP, we found significant gene-level evidence of association to non-synonymous variants with MAF
Published: 2014
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71. Integrating transcriptomics, metabolomics, and GWAS helps reveal molecular mechanisms for metabolite levels and disease risk

Author: Yin, Xianyong, Bose, Debraj, Kwon, Annie, Hanks, Sarah C, Jackson, Anne U, Stringham, Heather M, Welch, Ryan, Oravilahti, Anniina, Silva, Lilian Fernandes, FinnGen, Locke, Adam E, Fuchsberger, Christian, Service, Susan K, Erdos, Michael R, Bonnycastle, Lori L, Kuusisto, Johanna, Stitziel, Nathan O, Hall, Ira M, Morrison, Jean, Ripatti, Samuli, Palotie, Aarno, Freimer, Nelson B, Collins, Francis S, Mohlke, Karen L, Scott, Laura J, Fauman, Eric B, Burant, Charles, Boehnke, Michael, Laakso, Markku, and Wen, Xiaoquan
Subjects: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Epidemiology, Health Sciences, Medical Biochemistry and Metabolomics, Nutrition, Biotechnology, Human Genome, 2.1 Biological and endogenous factors, Aetiology, Good Health and Well Being, Bilirubin, Carnitine, Genome-Wide Association Study, Glycerophospholipids, Humans, Male, Metabolomics, Quantitative Trait Loci, Solute Carrier Family 22 Member 5, Transcriptome, FinnGen, colocalizataion, genome-wide association study, metabolomics, transcriptome-wide association study, transcriptomics, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract: Transcriptomics data have been integrated with genome-wide association studies (GWASs) to help understand disease/trait molecular mechanisms. The utility of metabolomics, integrated with transcriptomics and disease GWASs, to understand molecular mechanisms for metabolite levels or diseases has not been thoroughly evaluated. We performed probabilistic transcriptome-wide association and locus-level colocalization analyses to integrate transcriptomics results for 49 tissues in 706 individuals from the GTEx project, metabolomics results for 1,391 plasma metabolites in 6,136 Finnish men from the METSIM study, and GWAS results for 2,861 disease traits in 260,405 Finnish individuals from the FinnGen study. We found that genetic variants that regulate metabolite levels were more likely to influence gene expression and disease risk compared to the ones that do not. Integrating transcriptomics with metabolomics results prioritized 397 genes for 521 metabolites, including 496 previously identified gene-metabolite pairs with strong functional connections and suggested 33.3% of such gene-metabolite pairs shared the same causal variants with genetic associations of gene expression. Integrating transcriptomics and metabolomics individually with FinnGen GWAS results identified 1,597 genes for 790 disease traits. Integrating transcriptomics and metabolomics jointly with FinnGen GWAS results helped pinpoint metabolic pathways from genes to diseases. We identified putative causal effects of UGT1A1/UGT1A4 expression on gallbladder disorders through regulating plasma (E,E)-bilirubin levels, of SLC22A5 expression on nasal polyps and plasma carnitine levels through distinct pathways, and of LIPC expression on age-related macular degeneration through glycerophospholipid metabolic pathways. Our study highlights the power of integrating multiple sets of molecular traits and GWAS results to deepen understanding of disease pathophysiology.
Published: 2022

72. Association of Systemic Vascular Resistance Analog and Cardiovascular Outcomes: The Heart and Soul Study

Author: Lu, Dai‐Yin, Fang, Qizhi, Bibby, Dwight, Arora, Bhaskar, and Schiller, Nelson B
Subjects: Biomedical and Clinical Sciences, Cardiovascular Medicine and Haematology, Heart Disease, Clinical Research, Cardiovascular, Hypertension, Aged, Coronary Artery Disease, Female, Heart Failure, Heart Ventricles, Humans, Male, Middle Aged, Prognosis, Vascular Resistance, blood pressure, child, CIs, coronary artery disease, follow-up studies, humans, male sex, prognosis, follow‐up studies, Cardiorespiratory Medicine and Haematology, Cardiovascular medicine and haematology
Abstract: Background Systemic vascular resistance (SVR) is an integral component of the hemodynamic profile. Previous studies have demonstrated a close correlation between an estimated SVR analog (eSVR) based on echocardiographic methods and SVR by direct hemodynamic measurement. However, the prognostic impact of eSVR remains unestablished. Methods and Results Study participants with established coronary artery disease from the Heart and Soul Study formed this study cohort. We defined Doppler-derived eSVR as the ratio of systolic blood pressure to left ventricular outflow tract velocity time integral. Study participants were separated based on baseline eSVR tertile:
Published: 2022

73. Structural, electronic, and optical properties of copper doped monolayer molybdenum disulfide: A density functional theory study

Author: Ducut, Melsa Rose D., Rojas, Kurt Irvin M., Bautista, Reilly V., and Arboleda, Nelson B., Jr.
Published: 2025
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74. Partitioning the heritability of Tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture.

Author: Lea K Davis, Dongmei Yu, Clare L Keenan, Eric R Gamazon, Anuar I Konkashbaev, Eske M Derks, Benjamin M Neale, Jian Yang, S Hong Lee, Patrick Evans, Cathy L Barr, Laura Bellodi, Fortu Benarroch, Gabriel Bedoya Berrio, Oscar J Bienvenu, Michael H Bloch, Rianne M Blom, Ruth D Bruun, Cathy L Budman, Beatriz Camarena, Desmond Campbell, Carolina Cappi, Julio C Cardona Silgado, Danielle C Cath, Maria C Cavallini, Denise A Chavira, Sylvain Chouinard, David V Conti, Edwin H Cook, Vladimir Coric, Bernadette A Cullen, Dieter Deforce, Richard Delorme, Yves Dion, Christopher K Edlund, Karin Egberts, Peter Falkai, Thomas V Fernandez, Patience J Gallagher, Helena Garrido, Daniel Geller, Simon L Girard, Hans J Grabe, Marco A Grados, Benjamin D Greenberg, Varda Gross-Tsur, Stephen Haddad, Gary A Heiman, Sian M J Hemmings, Ana G Hounie, Cornelia Illmann, Joseph Jankovic, Michael A Jenike, James L Kennedy, Robert A King, Barbara Kremeyer, Roger Kurlan, Nuria Lanzagorta, Marion Leboyer, James F Leckman, Leonhard Lennertz, Chunyu Liu, Christine Lochner, Thomas L Lowe, Fabio Macciardi, James T McCracken, Lauren M McGrath, Sandra C Mesa Restrepo, Rainald Moessner, Jubel Morgan, Heike Muller, Dennis L Murphy, Allan L Naarden, William Cornejo Ochoa, Roel A Ophoff, Lisa Osiecki, Andrew J Pakstis, Michele T Pato, Carlos N Pato, John Piacentini, Christopher Pittenger, Yehuda Pollak, Scott L Rauch, Tobias J Renner, Victor I Reus, Margaret A Richter, Mark A Riddle, Mary M Robertson, Roxana Romero, Maria C Rosàrio, David Rosenberg, Guy A Rouleau, Stephan Ruhrmann, Andres Ruiz-Linares, Aline S Sampaio, Jack Samuels, Paul Sandor, Brooke Sheppard, Harvey S Singer, Jan H Smit, Dan J Stein, E Strengman, Jay A Tischfield, Ana V Valencia Duarte, Homero Vallada, Filip Van Nieuwerburgh, Jeremy Veenstra-Vanderweele, Susanne Walitza, Ying Wang, Jens R Wendland, Herman G M Westenberg, Yin Yao Shugart, Euripedes C Miguel, William McMahon, Michael Wagner, Humberto Nicolini, Danielle Posthuma, Gregory L Hanna, Peter Heutink, Damiaan Denys, Paul D Arnold, Ben A Oostra, Gerald Nestadt, Nelson B Freimer, David L Pauls, Naomi R Wray, S Evelyn Stewart, Carol A Mathews, James A Knowles, Nancy J Cox, and Jeremiah M Scharf
Subjects: Genetics, QH426-470
Abstract: The direct estimation of heritability from genome-wide common variant data as implemented in the program Genome-wide Complex Trait Analysis (GCTA) has provided a means to quantify heritability attributable to all interrogated variants. We have quantified the variance in liability to disease explained by all SNPs for two phenotypically-related neurobehavioral disorders, obsessive-compulsive disorder (OCD) and Tourette Syndrome (TS), using GCTA. Our analysis yielded a heritability point estimate of 0.58 (se = 0.09, p = 5.64e-12) for TS, and 0.37 (se = 0.07, p = 1.5e-07) for OCD. In addition, we conducted multiple genomic partitioning analyses to identify genomic elements that concentrate this heritability. We examined genomic architectures of TS and OCD by chromosome, MAF bin, and functional annotations. In addition, we assessed heritability for early onset and adult onset OCD. Among other notable results, we found that SNPs with a minor allele frequency of less than 5% accounted for 21% of the TS heritability and 0% of the OCD heritability. Additionally, we identified a significant contribution to TS and OCD heritability by variants significantly associated with gene expression in two regions of the brain (parietal cortex and cerebellum) for which we had available expression quantitative trait loci (eQTLs). Finally we analyzed the genetic correlation between TS and OCD, revealing a genetic correlation of 0.41 (se = 0.15, p = 0.002). These results are very close to previous heritability estimates for TS and OCD based on twin and family studies, suggesting that very little, if any, heritability is truly missing (i.e., unassayed) from TS and OCD GWAS studies of common variation. The results also indicate that there is some genetic overlap between these two phenotypically-related neuropsychiatric disorders, but suggest that the two disorders have distinct genetic architectures.
Published: 2013
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75. CNV analysis in Tourette syndrome implicates large genomic rearrangements in COL8A1 and NRXN1.

Author: Abhishek Nag, Elena G Bochukova, Barbara Kremeyer, Desmond D Campbell, Heike Muller, Ana V Valencia-Duarte, Julio Cardona, Isabel C Rivas, Sandra C Mesa, Mauricio Cuartas, Jharley Garcia, Gabriel Bedoya, William Cornejo, Luis D Herrera, Roxana Romero, Eduardo Fournier, Victor I Reus, Thomas L Lowe, I Sadaf Farooqi, Tourette Syndrome Association International Consortium for Genetics, Carol A Mathews, Lauren M McGrath, Dongmei Yu, Ed Cook, Kai Wang, Jeremiah M Scharf, David L Pauls, Nelson B Freimer, Vincent Plagnol, and Andrés Ruiz-Linares
Subjects: Medicine, Science
Abstract: Tourette syndrome (TS) is a neuropsychiatric disorder with a strong genetic component. However, the genetic architecture of TS remains uncertain. Copy number variation (CNV) has been shown to contribute to the genetic make-up of several neurodevelopmental conditions, including schizophrenia and autism. Here we describe CNV calls using SNP chip genotype data from an initial sample of 210 TS cases and 285 controls ascertained in two Latin American populations. After extensive quality control, we found that cases (N = 179) have a significant excess (P = 0.006) of large CNV (>500 kb) calls compared to controls (N = 234). Amongst 24 large CNVs seen only in the cases, we observed four duplications of the COL8A1 gene region. We also found two cases with ∼400 kb deletions involving NRXN1, a gene previously implicated in neurodevelopmental disorders, including TS. Follow-up using multiplex ligation-dependent probe amplification (and including 53 more TS cases) validated the CNV calls and identified additional patients with rearrangements in COL8A1 and NRXN1, but none in controls. Examination of available parents indicates that two out of three NRXN1 deletions detected in the TS cases are de-novo mutations. Our results are consistent with the proposal that rare CNVs play a role in TS aetiology and suggest a possible role for rearrangements in the COL8A1 and NRXN1 gene regions.
Published: 2013
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76. When, where and how osteoporosis-associated fractures occur: an analysis from the Global Longitudinal Study of Osteoporosis in Women (GLOW).

Author: Aline G Costa, Allison Wyman, Ethel S Siris, Nelson B Watts, Stuart Silverman, Kenneth G Saag, Christian Roux, Maurizio Rossini, Johannes Pfeilschifter, Jeri W Nieves, J Coen Netelenbos, Lyn March, Andrea Z LaCroix, Frederick H Hooven, Susan L Greenspan, Stephen H Gehlbach, Adolfo Díez-Pérez, Cyrus Cooper, Juliet E Compston, Roland D Chapurlat, Steven Boonen, Frederick A Anderson, Jonathan D Adachi, and Silvano Adami
Subjects: Medicine, Science
Abstract: OBJECTIVE:To examine when, where and how fractures occur in postmenopausal women. METHODS:We analyzed data from the Global Longitudinal Study of Osteoporosis in Women (GLOW), including women aged ≥55 years from the United States of America, Canada, Australia and seven European countries. Women completed questionnaires including fracture data at baseline and years 1, 2 and 3. RESULTS:Among 60,393 postmenopausal women, 4122 incident fractures were reported (86% non-hip, non-vertebral [NHNV], 8% presumably clinical vertebral and 6% hip). Hip fractures were more likely to occur in spring, with little seasonal variation for NHNV or spine fractures. Hip fractures occurred equally inside or outside the home, whereas 65% of NHNV fractures occurred outside and 61% of vertebral fractures occurred inside the home. Falls preceded 68-86% of NHNV and 68-83% of hip fractures among women aged ≤64 to ≥85 years, increasing with age. About 45% of vertebral fractures were associated with falls in all age groups except those ≥85 years, when only 24% occurred after falling. CONCLUSION:In this multi-national cohort, fractures occurred throughout the year, with only hip fracture having a seasonal variation, with a higher proportion in spring. Hip fractures occurred equally within and outside the home, spine fractures more often in the home, and NHNV fractures outside the home. Falls were a proximate cause of most hip and NHNV fractures. Postmenopausal women at risk for fracture need counseling about reducing potentially modifiable fracture risk factors, particularly falls both inside and outside the home and during all seasons of the year.
Published: 2013
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77. Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.

Author: Zari Dastani, Marie-France Hivert, Nicholas Timpson, John R B Perry, Xin Yuan, Robert A Scott, Peter Henneman, Iris M Heid, Jorge R Kizer, Leo-Pekka Lyytikäinen, Christian Fuchsberger, Toshiko Tanaka, Andrew P Morris, Kerrin Small, Aaron Isaacs, Marian Beekman, Stefan Coassin, Kurt Lohman, Lu Qi, Stavroula Kanoni, James S Pankow, Hae-Won Uh, Ying Wu, Aurelian Bidulescu, Laura J Rasmussen-Torvik, Celia M T Greenwood, Martin Ladouceur, Jonna Grimsby, Alisa K Manning, Ching-Ti Liu, Jaspal Kooner, Vincent E Mooser, Peter Vollenweider, Karen A Kapur, John Chambers, Nicholas J Wareham, Claudia Langenberg, Rune Frants, Ko Willems-Vandijk, Ben A Oostra, Sara M Willems, Claudia Lamina, Thomas W Winkler, Bruce M Psaty, Russell P Tracy, Jennifer Brody, Ida Chen, Jorma Viikari, Mika Kähönen, Peter P Pramstaller, David M Evans, Beate St Pourcain, Naveed Sattar, Andrew R Wood, Stefania Bandinelli, Olga D Carlson, Josephine M Egan, Stefan Böhringer, Diana van Heemst, Lyudmyla Kedenko, Kati Kristiansson, Marja-Liisa Nuotio, Britt-Marie Loo, Tamara Harris, Melissa Garcia, Alka Kanaya, Margot Haun, Norman Klopp, H-Erich Wichmann, Panos Deloukas, Efi Katsareli, David J Couper, Bruce B Duncan, Margreet Kloppenburg, Linda S Adair, Judith B Borja, DIAGRAM+ Consortium, MAGIC Consortium, GLGC Investigators, MuTHER Consortium, James G Wilson, Solomon Musani, Xiuqing Guo, Toby Johnson, Robert Semple, Tanya M Teslovich, Matthew A Allison, Susan Redline, Sarah G Buxbaum, Karen L Mohlke, Ingrid Meulenbelt, Christie M Ballantyne, George V Dedoussis, Frank B Hu, Yongmei Liu, Bernhard Paulweber, Timothy D Spector, P Eline Slagboom, Luigi Ferrucci, Antti Jula, Markus Perola, Olli Raitakari, Jose C Florez, Veikko Salomaa, Johan G Eriksson, Timothy M Frayling, Andrew A Hicks, Terho Lehtimäki, George Davey Smith, David S Siscovick, Florian Kronenberg, Cornelia van Duijn, Ruth J F Loos, Dawn M Waterworth, James B Meigs, Josee Dupuis, J Brent Richards, Benjamin F Voight, Laura J Scott, Valgerdur Steinthorsdottir, Christian Dina, Ryan P Welch, Eleftheria Zeggini, Cornelia Huth, Yurii S Aulchenko, Gudmar Thorleifsson, Laura J McCulloch, Teresa Ferreira, Harald Grallert, Najaf Amin, Guanming Wu, Cristen J Willer, Soumya Raychaudhuri, Steve A McCarroll, Oliver M Hofmann, Ayellet V Segrè, Mandy van Hoek, Pau Navarro, Kristin Ardlie, Beverley Balkau, Rafn Benediktsson, Amanda J Bennett, Roza Blagieva, Eric Boerwinkle, Lori L Bonnycastle, Kristina Bengtsson Boström, Bert Bravenboer, Suzannah Bumpstead, Noël P Burtt, Guillaume Charpentier, Peter S Chines, Marilyn Cornelis, Gabe Crawford, Alex S F Doney, Katherine S Elliott, Amanda L Elliott, Michael R Erdos, Caroline S Fox, Christopher S Franklin, Martha Ganser, Christian Gieger, Niels Grarup, Todd Green, Simon Griffin, Christopher J Groves, Candace Guiducci, Samy Hadjadj, Neelam Hassanali, Christian Herder, Bo Isomaa, Anne U Jackson, Paul R V Johnson, Torben Jørgensen, Wen H L Kao, Augustine Kong, Peter Kraft, Johanna Kuusisto, Torsten Lauritzen, Man Li, Aloysius Lieverse, Cecilia M Lindgren, Valeriya Lyssenko, Michel Marre, Thomas Meitinger, Kristian Midthjell, Mario A Morken, Narisu Narisu, Peter Nilsson, Katharine R Owen, Felicity Payne, Ann-Kristin Petersen, Carl Platou, Christine Proença, Inga Prokopenko, Wolfgang Rathmann, N William Rayner, Neil R Robertson, Ghislain Rocheleau, Michael Roden, Michael J Sampson, Richa Saxena, Beverley M Shields, Peter Shrader, Gunnar Sigurdsson, Thomas Sparsø, Klaus Strassburger, Heather M Stringham, Qi Sun, Amy J Swift, Barbara Thorand, Jean Tichet, Tiinamaija Tuomi, Rob M van Dam, Timon W van Haeften, Thijs van Herpt, Jana V van Vliet-Ostaptchouk, G Bragi Walters, Michael N Weedon, Cisca Wijmenga, Jacqueline Witteman, Richard N Bergman, Stephane Cauchi, Francis S Collins, Anna L Gloyn, Ulf Gyllensten, Torben Hansen, Winston A Hide, Graham A Hitman, Albert Hofman, David J Hunter, Kristian Hveem, Markku Laakso, Andrew D Morris, Colin N A Palmer, Igor Rudan, Eric Sijbrands, Lincoln D Stein, Jaakko Tuomilehto, Andre Uitterlinden, Mark Walker, Richard M Watanabe, Goncalo R Abecasis, Bernhard O Boehm, Harry Campbell, Mark J Daly, Andrew T Hattersley, Oluf Pedersen, Inês Barroso, Leif Groop, Rob Sladek, Unnur Thorsteinsdottir, James F Wilson, Thomas Illig, Philippe Froguel, Cornelia M van Duijn, Kari Stefansson, David Altshuler, Michael Boehnke, Mark I McCarthy, Nicole Soranzo, Eleanor Wheeler, Nicole L Glazer, Nabila Bouatia-Naji, Reedik Mägi, Joshua Randall, Paul Elliott, Denis Rybin, Abbas Dehghan, Jouke Jan Hottenga, Kijoung Song, Anuj Goel, Taina Lajunen, Alex Doney, Christine Cavalcanti-Proença, Meena Kumari, Nicholas J Timpson, Carina Zabena, Erik Ingelsson, Ping An, Jeffrey O'Connell, Jian'an Luan, Amanda Elliott, Steven A McCarroll, Rosa Maria Roccasecca, François Pattou, Praveen Sethupathy, Yavuz Ariyurek, Philip Barter, John P Beilby, Yoav Ben-Shlomo, Sven Bergmann, Murielle Bochud, Amélie Bonnefond, Knut Borch-Johnsen, Yvonne Böttcher, Eric Brunner, Suzannah J Bumpstead, Yii-Der Ida Chen, Peter Chines, Robert Clarke, Lachlan J M Coin, Matthew N Cooper, Laura Crisponi, Ian N M Day, Eco J C de Geus, Jerome Delplanque, Annette C Fedson, Antje Fischer-Rosinsky, Nita G Forouhi, Maria Grazia Franzosi, Pilar Galan, Mark O Goodarzi, Jürgen Graessler, Scott Grundy, Rhian Gwilliam, Göran Hallmans, Naomi Hammond, Xijing Han, Anna-Liisa Hartikainen, Caroline Hayward, Simon C Heath, Serge Hercberg, David R Hillman, Aroon D Hingorani, Jennie Hui, Joe Hung, Marika Kaakinen, Jaakko Kaprio, Y Antero Kesaniemi, Mika Kivimaki, Beatrice Knight, Seppo Koskinen, Peter Kovacs, Kirsten Ohm Kyvik, G Mark Lathrop, Debbie A Lawlor, Olivier Le Bacquer, Cécile Lecoeur, Yun Li, Robert Mahley, Massimo Mangino, María Teresa Martínez-Larrad, Jarred B McAteer, Ruth McPherson, Christa Meisinger, David Melzer, David Meyre, Braxton D Mitchell, Sutapa Mukherjee, Silvia Naitza, Matthew J Neville, Marco Orrù, Ruth Pakyz, Giuseppe Paolisso, Cristian Pattaro, Daniel Pearson, John F Peden, Nancy L Pedersen, Andreas F H Pfeiffer, Irene Pichler, Ozren Polasek, Danielle Posthuma, Simon C Potter, Anneli Pouta, Michael A Province, Nigel W Rayner, Kenneth Rice, Samuli Ripatti, Fernando Rivadeneira, Olov Rolandsson, Annelli Sandbaek, Manjinder Sandhu, Serena Sanna, Avan Aihie Sayer, Paul Scheet, Udo Seedorf, Stephen J Sharp, Beverley Shields, Gunnar Sigurðsson, Eric J G Sijbrands, Angela Silveira, Laila Simpson, Andrew Singleton, Nicholas L Smith, Ulla Sovio, Amy Swift, Holly Syddall, Ann-Christine Syvänen, Anke Tönjes, André G Uitterlinden, Ko Willems van Dijk, Dhiraj Varma, Sophie Visvikis-Siest, Veronique Vitart, Nicole Vogelzangs, Gérard Waeber, Peter J Wagner, Andrew Walley, Kim L Ward, Hugh Watkins, Sarah H Wild, Gonneke Willemsen, Jaqueline C M Witteman, John W G Yarnell, Diana Zelenika, Björn Zethelius, Guangju Zhai, Jing Hua Zhao, M Carola Zillikens, DIAGRAM Consortium, GIANT Consortium, Global B Pgen Consortium, Ingrid B Borecki, Pierre Meneton, Patrik K E Magnusson, David M Nathan, Gordon H Williams, Kaisa Silander, Stefan R Bornstein, Peter Schwarz, Joachim Spranger, Fredrik Karpe, Alan R Shuldiner, Cyrus Cooper, Manuel Serrano-Ríos, Lars Lind, Lyle J Palmer, Paul W Franks, Shah Ebrahim, Michael Marmot, W H Linda Kao, Peter Paul Pramstaller, Alan F Wright, Michael Stumvoll, Anders Hamsten, Procardis Consortium, Thomas A Buchanan, Timo T Valle, Jerome I Rotter, Brenda W J H Penninx, Dorret I Boomsma, Antonio Cao, Angelo Scuteri, David Schlessinger, Manuela Uda, Aimo Ruokonen, Marjo-Riitta Jarvelin, Leena Peltonen, Vincent Mooser, Robert Sladek, MAGIC investigators, GLGC Consortium, Kiran Musunuru, Albert V Smith, Andrew C Edmondson, Ioannis M Stylianou, Masahiro Koseki, James P Pirruccello, Daniel I Chasman, Christopher T Johansen, Sigrid W Fouchier, Gina M Peloso, Maja Barbalic, Sally L Ricketts, Joshua C Bis, Mary F Feitosa, Marju Orho-Melander, Olle Melander, Xiaohui Li, Mingyao Li, Yoon Shin Cho, Min Jin Go, Young Jin Kim, Jong-Young Lee, Taesung Park, Kyunga Kim, Xueling Sim, Rick Twee-Hee Ong, Damien C Croteau-Chonka, Leslie A Lange, Joshua D Smith, Andreas Ziegler, Weihua Zhang, Robert Y L Zee, John B Whitfield, John R Thompson, Ida Surakka, Tim D Spector, Johannes H Smit, Juha Sinisalo, James Scott, Juha Saharinen, Chiara Sabatti, Lynda M Rose, Robert Roberts, Mark Rieder, Alex N Parker, Guillaume Pare, Christopher J O'Donnell, Markku S Nieminen, Deborah A Nickerson, Grant W Montgomery, Wendy McArdle, David Masson, Nicholas G Martin, Fabio Marroni, Gavin Lucas, Robert Luben, Marja-Liisa Lokki, Guillaume Lettre, Lenore J Launer, Edward G Lakatta, Reijo Laaksonen, Kirsten O Kyvik, Inke R König, Kay-Tee Khaw, Lee M Kaplan, Åsa Johansson, A Cecile J W Janssens, Wilmar Igl, G Kees Hovingh, Christian Hengstenberg, Aki S Havulinna, Nicholas D Hastie, Tamara B Harris, Talin Haritunians, Alistair S Hall, Leif C Groop, Elena Gonzalez, Nelson B Freimer, Jeanette Erdmann, Kenechi G Ejebe, Angela Döring, Anna F Dominiczak, Serkalem Demissie, Panagiotis Deloukas, Ulf de Faire, Gabriel Crawford, Yii-der I Chen, Mark J Caulfield, S Matthijs Boekholdt, Themistocles L Assimes, Thomas Quertermous, Mark Seielstad, Tien Y Wong, E-Shyong Tai, Alan B Feranil, Christopher W Kuzawa, Herman A Taylor, Stacey B Gabriel, Hilma Holm, Vilmundur Gudnason, Ronald M Krauss, Jose M Ordovas, Patricia B Munroe, Jaspal S Kooner, Alan R Tall, Robert A Hegele, John J P Kastelein, Eric E Schadt, David P Strachan, Muredach P Reilly, Nilesh J Samani, Heribert Schunkert, L Adrienne Cupples, Manjinder S Sandhu, Paul M Ridker, Daniel J Rader, and Sekar Kathiresan
Subjects: Genetics, QH426-470
Abstract: Circulating levels of adiponectin, a hormone produced predominantly by adipocytes, are highly heritable and are inversely associated with type 2 diabetes mellitus (T2D) and other metabolic traits. We conducted a meta-analysis of genome-wide association studies in 39,883 individuals of European ancestry to identify genes associated with metabolic disease. We identified 8 novel loci associated with adiponectin levels and confirmed 2 previously reported loci (P = 4.5×10(-8)-1.2×10(-43)). Using a novel method to combine data across ethnicities (N = 4,232 African Americans, N = 1,776 Asians, and N = 29,347 Europeans), we identified two additional novel loci. Expression analyses of 436 human adipocyte samples revealed that mRNA levels of 18 genes at candidate regions were associated with adiponectin concentrations after accounting for multiple testing (p
Published: 2012
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78. Pitstop 2 is a potent inhibitor of clathrin-independent endocytosis.

Author: Dipannita Dutta, Chad D Williamson, Nelson B Cole, and Julie G Donaldson
Subjects: Medicine, Science
Abstract: Clathrin independent endocytosis (CIE) is a form of endocytosis present in all cells that mediates the entry of nutrients, macromolecules and membrane proteins into cells. When compared to clathrin-dependent endocytosis (CDE), however, much less is known about the machinery involved in forming CIE endosomes. One way to distinguish CIE from CDE has been to deplete cells of coat proteins involved in CDE such as clathrin or the dynamin GTPase, leading to a block of CDE but not CIE. A drawback of such genetic manipulations is that depletion of proteins important for mediating CDE over a period of days can have complex indirect effects on cellular function. The identification of chemical compounds that specifically and rapidly block CDE or CIE would facilitate the determination of whether a process involved CDE or CIE. To date, all of those compounds have targeted CDE. Dynasore and the dynoles specifically target and block dynamin activity thus inhibiting CDE but not most forms of CIE. Recently, a new compound called pitstop 2 was identified as an inhibitor of the interaction of amphiphysin with the amino terminal domain of clathrin, and shown to inhibit CDE in cells. Here we show that pitstop 2 is also a potent inhibitor of CIE. The effects of pitstop 2 are not restricted to inhibition of clathrin since knockdown of clathrin fails to rescue the inhibition of endocytosis of CIE proteins by the drug. Thus pitstop 2 has additional cellular targets besides the amino terminal domain of clathrin and thus cannot be used to distinguish CIE from CDE.
Published: 2012
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79. Early environment and neurobehavioral development predict adult temperament clusters.

Author: Eliza Congdon, Susan Service, Jaana Wessman, Jouni K Seppänen, Stefan Schönauer, Jouko Miettunen, Hannu Turunen, Markku Koiranen, Matti Joukamaa, Marjo-Riitta Järvelin, Leena Peltonen, Juha Veijola, Heikki Mannila, Tiina Paunio, and Nelson B Freimer
Subjects: Medicine, Science
Abstract: Investigation of the environmental influences on human behavioral phenotypes is important for our understanding of the causation of psychiatric disorders. However, there are complexities associated with the assessment of environmental influences on behavior.We conducted a series of analyses using a prospective, longitudinal study of a nationally representative birth cohort from Finland (the Northern Finland 1966 Birth Cohort). Participants included a total of 3,761 male and female cohort members who were living in Finland at the age of 16 years and who had complete temperament scores. Our initial analyses (Wessman et al., in press) provide evidence in support of four stable and robust temperament clusters. Using these temperament clusters, as well as independent temperament dimensions for comparison, we conducted a data-driven analysis to assess the influence of a broad set of life course measures, assessed pre-natally, in infancy, and during adolescence, on adult temperament.Measures of early environment, neurobehavioral development, and adolescent behavior significantly predict adult temperament, classified by both cluster membership and temperament dimensions. Specifically, our results suggest that a relatively consistent set of life course measures are associated with adult temperament profiles, including maternal education, characteristics of the family's location and residence, adolescent academic performance, and adolescent smoking.Our finding that a consistent set of life course measures predict temperament clusters indicate that these clusters represent distinct developmental temperament trajectories and that information about a subset of life course measures has implications for adult health outcomes.
Published: 2012
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80. Reducing Policing in Mental Health Crises: A Vision for University Campuses

Author: Isabelle Lanser, Nelson B. Freimer, and Michelle G. Craske
Abstract: University campuses could become leaders in developing alternatives to policing for managing public health and safety, yet, nearly all campuses rely on campus or local police to respond to mental health emergencies. Herein, we present the available evidence for campus mobile crisis intervention teams (MCITs) as an alternative to policing, consider what colleges and universities can learn from existing community MCIT models, and propose initial steps for the development and implementation of a campus MCIT.
Published: 2023
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81. A genome-wide screen for interactions reveals a new locus on 4p15 modifying the effect of waist-to-hip ratio on total cholesterol.

Author: Ida Surakka, Aaron Isaacs, Lennart C Karssen, Pirkka-Pekka P Laurila, Rita P S Middelberg, Emmi Tikkanen, Janina S Ried, Claudia Lamina, Massimo Mangino, Wilmar Igl, Jouke-Jan Hottenga, Vasiliki Lagou, Pim van der Harst, Irene Mateo Leach, Tõnu Esko, Zoltán Kutalik, Nicholas W Wainwright, Maksim V Struchalin, Antti-Pekka Sarin, Antti J Kangas, Jorma S Viikari, Markus Perola, Taina Rantanen, Ann-Kristin Petersen, Pasi Soininen, Asa Johansson, Nicole Soranzo, Andrew C Heath, Theodore Papamarkou, Inga Prokopenko, Anke Tönjes, Florian Kronenberg, Angela Döring, Fernando Rivadeneira, Grant W Montgomery, John B Whitfield, Mika Kähönen, Terho Lehtimäki, Nelson B Freimer, Gonneke Willemsen, Eco J C de Geus, Aarno Palotie, Manj S Sandhu, Dawn M Waterworth, Andres Metspalu, Michael Stumvoll, André G Uitterlinden, Antti Jula, Gerjan Navis, Cisca Wijmenga, Bruce H R Wolffenbuttel, Marja-Riitta Taskinen, Mika Ala-Korpela, Jaakko Kaprio, Kirsten O Kyvik, Dorret I Boomsma, Nancy L Pedersen, Ulf Gyllensten, James F Wilson, Igor Rudan, Harry Campbell, Peter P Pramstaller, Tim D Spector, Jacqueline C M Witteman, Johan G Eriksson, Veikko Salomaa, Ben A Oostra, Olli T Raitakari, H-Erich Wichmann, Christian Gieger, Marjo-Riitta Järvelin, Nicholas G Martin, Albert Hofman, Mark I McCarthy, Leena Peltonen, Cornelia M van Duijn, Yurii S Aulchenko, Samuli Ripatti, and ENGAGE Consortium
Subjects: Genetics, QH426-470
Abstract: Recent genome-wide association (GWA) studies described 95 loci controlling serum lipid levels. These common variants explain ∼25% of the heritability of the phenotypes. To date, no unbiased screen for gene-environment interactions for circulating lipids has been reported. We screened for variants that modify the relationship between known epidemiological risk factors and circulating lipid levels in a meta-analysis of genome-wide association (GWA) data from 18 population-based cohorts with European ancestry (maximum N = 32,225). We collected 8 further cohorts (N = 17,102) for replication, and rs6448771 on 4p15 demonstrated genome-wide significant interaction with waist-to-hip-ratio (WHR) on total cholesterol (TC) with a combined P-value of 4.79×10(-9). There were two potential candidate genes in the region, PCDH7 and CCKAR, with differential expression levels for rs6448771 genotypes in adipose tissue. The effect of WHR on TC was strongest for individuals carrying two copies of G allele, for whom a one standard deviation (sd) difference in WHR corresponds to 0.19 sd difference in TC concentration, while for A allele homozygous the difference was 0.12 sd. Our findings may open up possibilities for targeted intervention strategies for people characterized by specific genomic profiles. However, more refined measures of both body-fat distribution and metabolic measures are needed to understand how their joint dynamics are modified by the newly found locus.
Published: 2011
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82. Genome of Herbaspirillum seropedicae strain SmR1, a specialized diazotrophic endophyte of tropical grasses.

Author: Fábio O Pedrosa, Rose Adele Monteiro, Roseli Wassem, Leonardo M Cruz, Ricardo A Ayub, Nelson B Colauto, Maria Aparecida Fernandez, Maria Helena P Fungaro, Edmundo C Grisard, Mariangela Hungria, Humberto M F Madeira, Rubens O Nodari, Clarice A Osaku, Maria Luiza Petzl-Erler, Hernán Terenzi, Luiz G E Vieira, Maria Berenice R Steffens, Vinicius A Weiss, Luiz F P Pereira, Marina I M Almeida, Lysangela R Alves, Anelis Marin, Luiza Maria Araujo, Eduardo Balsanelli, Valter A Baura, Leda S Chubatsu, Helisson Faoro, Augusto Favetti, Geraldo Friedermann, Chirlei Glienke, Susan Karp, Vanessa Kava-Cordeiro, Roberto T Raittz, Humberto J O Ramos, Enilze Maria S F Ribeiro, Liu Un Rigo, Saul N Rocha, Stefan Schwab, Anilda G Silva, Eliel M Souza, Michelle Z Tadra-Sfeir, Rodrigo A Torres, Audrei N G Dabul, Maria Albertina M Soares, Luciano S Gasques, Ciela C T Gimenes, Juliana S Valle, Ricardo R Ciferri, Luiz C Correa, Norma K Murace, João A Pamphile, Eliana Valéria Patussi, Alberto J Prioli, Sonia Maria A Prioli, Carmem Lúcia M S C Rocha, Olívia Márcia N Arantes, Márcia Cristina Furlaneto, Leandro P Godoy, Carlos E C Oliveira, Daniele Satori, Laurival A Vilas-Boas, Maria Angélica E Watanabe, Bibiana Paula Dambros, Miguel P Guerra, Sandra Marisa Mathioni, Karine Louise Santos, Mario Steindel, Javier Vernal, Fernando G Barcellos, Rubens J Campo, Ligia Maria O Chueire, Marisa Fabiana Nicolás, Lilian Pereira-Ferrari, José L da Conceição Silva, Nereida M R Gioppo, Vladimir P Margarido, Maria Amélia Menck-Soares, Fabiana Gisele S Pinto, Rita de Cássia G Simão, Elizabete K Takahashi, Marshall G Yates, and Emanuel M Souza
Subjects: Genetics, QH426-470
Abstract: The molecular mechanisms of plant recognition, colonization, and nutrient exchange between diazotrophic endophytes and plants are scarcely known. Herbaspirillum seropedicae is an endophytic bacterium capable of colonizing intercellular spaces of grasses such as rice and sugar cane. The genome of H. seropedicae strain SmR1 was sequenced and annotated by The Paraná State Genome Programme--GENOPAR. The genome is composed of a circular chromosome of 5,513,887 bp and contains a total of 4,804 genes. The genome sequence revealed that H. seropedicae is a highly versatile microorganism with capacity to metabolize a wide range of carbon and nitrogen sources and with possession of four distinct terminal oxidases. The genome contains a multitude of protein secretion systems, including type I, type II, type III, type V, and type VI secretion systems, and type IV pili, suggesting a high potential to interact with host plants. H. seropedicae is able to synthesize indole acetic acid as reflected by the four IAA biosynthetic pathways present. A gene coding for ACC deaminase, which may be involved in modulating the associated plant ethylene-signaling pathway, is also present. Genes for hemagglutinins/hemolysins/adhesins were found and may play a role in plant cell surface adhesion. These features may endow H. seropedicae with the ability to establish an endophytic life-style in a large number of plant species.
Published: 2011
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83. Anatomic brain asymmetry in vervet monkeys.

Author: Scott C Fears, Kevin Scheibel, Zvart Abaryan, Chris Lee, Susan K Service, Matthew J Jorgensen, Lynn A Fairbanks, Rita M Cantor, Nelson B Freimer, and Roger P Woods
Subjects: Medicine, Science
Abstract: Asymmetry is a prominent feature of human brains with important functional consequences. Many asymmetric traits show population bias, but little is known about the genetic and environmental sources contributing to inter-individual variance. Anatomic asymmetry has been observed in Old World monkeys, but the evidence for the direction and extent of asymmetry is equivocal and only one study has estimated the genetic contributions to inter-individual variance. In this study we characterize a range of qualitative and quantitative asymmetry measures in structural brain MRIs acquired from an extended pedigree of Old World vervet monkeys (n = 357), and implement variance component methods to estimate the proportion of trait variance attributable to genetic and environmental sources. Four of six asymmetry measures show pedigree-level bias and one of the traits has a significant heritability estimate of about 30%. We also found that environmental variables more significantly influence the width of the right compared to the left prefrontal lobe.
Published: 2011
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84. A functional polymorphism in renalase (Glu37Asp) is associated with cardiac hypertrophy, dysfunction, and ischemia: data from the heart and soul study.

Author: Ramin Farzaneh-Far, Gary V Desir, Beeya Na, Nelson B Schiller, and Mary A Whooley
Subjects: Medicine, Science
Abstract: Renalase is a soluble enzyme that metabolizes circulating catecholamines. A common missense polymorphism in the flavin-adenine dinucleotide-binding domain of human renalase (Glu37Asp) has recently been described. The association of this polymorphism with cardiac structure, function, and ischemia has not previously been reported.We genotyped the rs2296545 single-nucleotide polymorphism (Glu37Asp) in 590 Caucasian individuals and performed resting and stress echocardiography. Logistic regression was used to examine the associations of the Glu37Asp polymorphism (C allele) with cardiac hypertrophy (LV mass>100 g/m2), systolic dysfunction (LVEF
Published: 2010
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85. Genome-Wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome

Author: Barr, Cathy L., Batterson, James R., Berlin, Cheston, Budman, Cathy L., Coppola, Giovanni, Cox, Nancy J., Darrow, Sabrina, Dion, Yves, Freimer, Nelson B., Grados, Marco A., Greenberg, Erica, Hirschtritt, Matthew E., Huang, Alden Y., Illmann, Cornelia, King, Robert A., Kurlan, Roger, Leckman, James F., Lyon, Gholson J., Malaty, Irene A., McMahon, William M., Neale, Benjamin M., Okun, Michael S., Osiecki, Lisa, Robertson, Mary M., Rouleau, Guy A., Sandor, Paul, Singer, Harvey S., Smit, Jan H., Sul, Jae Hoon, Androutsos, Christos, Basha, Entela, Farkas, Luca, Fichna, Jakub, Janik, Piotr, Kapisyzi, Mira, Karagiannidis, Iordanis, Koumoula, Anastasia, Nagy, Peter, Puchala, Joanna, Szejko, Natalia, Szymanska, Urszula, Tsironi, Vaia, Apter, Alan, Ball, Juliane, Bodmer, Benjamin, Bognar, Emese, Buse, Judith, Vela, Marta Correa, Fremer, Carolin, Garcia-Delgar, Blanca, Gulisano, Mariangela, Hagen, Annelieke, Hagstrøm, Julie, Madruga-Garrido, Marcos, Pellico, Alessandra, Ruhrman, Daphna, Schnell, Jaana, Silvestri, Paola Rosaria, Skov, Liselotte, Steinberg, Tamar, Gloor, Friederike Tagwerker, Turner, Victoria L., Weidinger, Elif, Alexander, John, Aranyi, Tamas, Buisman, Wim R., Buitelaar, Jan K., Driessen, Nicole, Drineas, Petros, Fan, Siyan, Forde, Natalie J., Gerasch, Sarah, van den Heuvel, Odile A., Jespersgaard, Cathrine, Kanaan, Ahmad S., Möller, Harald E., Nawaz, Muhammad S., Nespoli, Ester, Pagliaroli, Luca, Poelmans, Geert, Pouwels, Petra J.W., Rizzo, Francesca, Veltman, Dick J., van der Werf, Ysbrand D., Widomska, Joanna, Zilhäo, Nuno R., Brown, Lawrence W., Cheon, Keun-Ah, Coffey, Barbara J., Fernandez, Thomas V., Gilbert, Donald L., Hong, Hyun Ju, Ibanez-Gomez, Laura, Kim, Eun-Joo, Kim, Young Key, Kim, Young-Shin, Koh, Yun-Joo, Kook, Sodahm, Kuperman, Samuel, Leventhal, Bennett L., Maras, Athanasios, Murphy, Tara L., Shin, Eun-Young, Song, Dong-Ho, Song, Jungeun, State, Matthew W., Visscher, Frank, Wang, Sheng, Zinner, Samuel H., Tsetsos, Fotis, Topaloudi, Apostolia, Jain, Pritesh, Yang, Zhiyu, Yu, Dongmei, Kolovos, Petros, Tumer, Zeynep, Rizzo, Renata, Hartmann, Andreas, Depienne, Christel, Worbe, Yulia, Müller-Vahl, Kirsten R., Cath, Danielle C., Boomsma, Dorret I., Wolanczyk, Tomasz, Zekanowski, Cezary, Barta, Csaba, Nemoda, Zsofia, Tarnok, Zsanett, Padmanabhuni, Shanmukha S., Buxbaum, Joseph D., Grice, Dorothy, Glennon, Jeffrey, Stefansson, Hreinn, Hengerer, Bastian, Yannaki, Evangelia, Stamatoyannopoulos, John A., Benaroya-Milshtein, Noa, Cardona, Francesco, Hedderly, Tammy, Heyman, Isobel, Huyser, Chaim, Mir, Pablo, Morer, Astrid, Mueller, Norbert, Munchau, Alexander, Plessen, Kerstin J., Porcelli, Cesare, Roessner, Veit, Walitza, Susanne, Schrag, Anette, Martino, Davide, Tischfield, Jay A., Heiman, Gary A., Willsey, A. Jeremy, Dietrich, Andrea, Davis, Lea K., Crowley, James J., Mathews, Carol A., Scharf, Jeremiah M., Georgitsi, Marianthi, Hoekstra, Pieter J., and Paschou, Peristera
Published: 2024
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86. Genetic determinants of height growth assessed longitudinally from infancy to adulthood in the northern Finland birth cohort 1966.

Author: Ulla Sovio, Amanda J Bennett, Iona Y Millwood, John Molitor, Paul F O'Reilly, Nicholas J Timpson, Marika Kaakinen, Jaana Laitinen, Jari Haukka, Demetris Pillas, Ioanna Tzoulaki, Jassy Molitor, Clive Hoggart, Lachlan J M Coin, John Whittaker, Anneli Pouta, Anna-Liisa Hartikainen, Nelson B Freimer, Elisabeth Widen, Leena Peltonen, Paul Elliott, Mark I McCarthy, and Marjo-Riitta Jarvelin
Subjects: Genetics, QH426-470
Abstract: Recent genome-wide association (GWA) studies have identified dozens of common variants associated with adult height. However, it is unknown how these variants influence height growth during childhood. We derived peak height velocity in infancy (PHV1) and puberty (PHV2) and timing of pubertal height growth spurt from parametric growth curves fitted to longitudinal height growth data to test their association with known height variants. The study consisted of N = 3,538 singletons from the prospective Northern Finland Birth Cohort 1966 with genotype data and frequent height measurements (on average 20 measurements per person) from 0-20 years. Twenty-six of the 48 variants tested associated with adult height (p
Published: 2009
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87. Geographic patterns of genome admixture in Latin American Mestizos.

Author: Sijia Wang, Nicolas Ray, Winston Rojas, Maria V Parra, Gabriel Bedoya, Carla Gallo, Giovanni Poletti, Guido Mazzotti, Kim Hill, Ana M Hurtado, Beatriz Camrena, Humberto Nicolini, William Klitz, Ramiro Barrantes, Julio A Molina, Nelson B Freimer, Maria Cátira Bortolini, Francisco M Salzano, Maria L Petzl-Erler, Luiza T Tsuneto, José E Dipierri, Emma L Alfaro, Graciela Bailliet, Nestor O Bianchi, Elena Llop, Francisco Rothhammer, Laurent Excoffier, and Andrés Ruiz-Linares
Subjects: Genetics, QH426-470
Abstract: The large and diverse population of Latin America is potentially a powerful resource for elucidating the genetic basis of complex traits through admixture mapping. However, no genome-wide characterization of admixture across Latin America has yet been attempted. Here, we report an analysis of admixture in thirteen Mestizo populations (i.e. in regions of mainly European and Native settlement) from seven countries in Latin America based on data for 678 autosomal and 29 X-chromosome microsatellites. We found extensive variation in Native American and European ancestry (and generally low levels of African ancestry) among populations and individuals, and evidence that admixture across Latin America has often involved predominantly European men and both Native and African women. An admixture analysis allowing for Native American population subdivision revealed a differentiation of the Native American ancestry amongst Mestizos. This observation is consistent with the genetic structure of pre-Columbian populations and with admixture having involved Natives from the area where the Mestizo examined are located. Our findings agree with available information on the demographic history of Latin America and have a number of implications for the design of association studies in population from the region.
Published: 2008
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88. Avaliação nutricional e alimentar de pré-escolares de uma creche de Manaus e a influência da entidade no estado nutricional de sua população

Author: Dionísia Nagahama, Helyde A. Marinho, Yolanda Rocha, Maria José R. Ferraroni, Nelson B. Silva, Janete S. Castro, and José Augusto Onety
Subjects: Science (General), Q1-390
Abstract: Foram estudadas 250 crianças na faixa etária de 4 a 6 anos de uma creche destinada a filhos de trabalhadores do Distrito Industrial de Manaus, AM. Os pais dessas crianças foram consideradas de baixa renda. O estado nutricional foi avaliado segundo os critérios de Gomez (1956) e Waterlow et al. (1977); para o inquérito alimentar foi utilizado o método recordatório de 24 hs e pesagem direta dos alimentos. Os resultados indicaram qe a maioria das crianças, 62,8% estavam em estado nutricional normal pela classificação de Gomez (1974). O cálcio, a riboflavina e a vitamina C apresentaram índices de adequação de 85, 89%, 82, 73% e 89,9% respectivamente. Ferro, tiamina e niacina apresentaram índices inferiores a 80% do recomendado FAO/OMS (1974).
Published: 1990
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89. Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia

Author: Palmer, Duncan S, Howrigan, Daniel P, Chapman, Sinéad B, Adolfsson, Rolf, Bass, Nick, Blackwood, Douglas, Boks, Marco PM, Chen, Chia-Yen, Churchhouse, Claire, Corvin, Aiden P, Craddock, Nicholas, Curtis, David, Di Florio, Arianna, Dickerson, Faith, Freimer, Nelson B, Goes, Fernando S, Jia, Xiaoming, Jones, Ian, Jones, Lisa, Jonsson, Lina, Kahn, Rene S, Landén, Mikael, Locke, Adam E, McIntosh, Andrew M, McQuillin, Andrew, Morris, Derek W, O’Donovan, Michael C, Ophoff, Roel A, Owen, Michael J, Pedersen, Nancy L, Posthuma, Danielle, Reif, Andreas, Risch, Neil, Schaefer, Catherine, Scott, Laura, Singh, Tarjinder, Smoller, Jordan W, Solomonson, Matthew, Clair, David St, Stahl, Eli A, Vreeker, Annabel, Walters, James TR, Wang, Weiqing, Watts, Nicholas A, Yolken, Robert, Zandi, Peter P, and Neale, Benjamin M
Subjects: Biotechnology, Human Genome, Clinical Research, Serious Mental Illness, Schizophrenia, Brain Disorders, Bipolar Disorder, Mental Health, Genetics, 2.1 Biological and endogenous factors, Aetiology, Mental health, A Kinase Anchor Proteins, Exome, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Exome Sequencing, Biological Sciences, Medical and Health Sciences, Developmental Biology
Abstract: We report results from the Bipolar Exome (BipEx) collaboration analysis of whole-exome sequencing of 13,933 patients with bipolar disorder (BD) matched with 14,422 controls. We find an excess of ultra-rare protein-truncating variants (PTVs) in patients with BD among genes under strong evolutionary constraint in both major BD subtypes. We find enrichment of ultra-rare PTVs within genes implicated from a recent schizophrenia exome meta-analysis (SCHEMA; 24,248 cases and 97,322 controls) and among binding targets of CHD8. Genes implicated from genome-wide association studies (GWASs) of BD, however, are not significantly enriched for ultra-rare PTVs. Combining gene-level results with SCHEMA, AKAP11 emerges as a definitive risk gene (odds ratio (OR) = 7.06, P = 2.83 × 10-9). At the protein level, AKAP-11 interacts with GSK3B, the hypothesized target of lithium, a primary treatment for BD. Our results lend support to BD's polygenicity, demonstrating a role for rare coding variation as a significant risk factor in BD etiology.
Published: 2022

90. Mapping genomic loci implicates genes and synaptic biology in schizophrenia

Author: Trubetskoy, Vassily, Pardiñas, Antonio F, Qi, Ting, Panagiotaropoulou, Georgia, Awasthi, Swapnil, Bigdeli, Tim B, Bryois, Julien, Chen, Chia-Yen, Dennison, Charlotte A, Hall, Lynsey S, Lam, Max, Watanabe, Kyoko, Frei, Oleksandr, Ge, Tian, Harwood, Janet C, Koopmans, Frank, Magnusson, Sigurdur, Richards, Alexander L, Sidorenko, Julia, Wu, Yang, Zeng, Jian, Grove, Jakob, Kim, Minsoo, Li, Zhiqiang, Voloudakis, Georgios, Zhang, Wen, Adams, Mark, Agartz, Ingrid, Atkinson, Elizabeth G, Agerbo, Esben, Al Eissa, Mariam, Albus, Margot, Alexander, Madeline, Alizadeh, Behrooz Z, Alptekin, Köksal, Als, Thomas D, Amin, Farooq, Arolt, Volker, Arrojo, Manuel, Athanasiu, Lavinia, Azevedo, Maria Helena, Bacanu, Silviu A, Bass, Nicholas J, Begemann, Martin, Belliveau, Richard A, Bene, Judit, Benyamin, Beben, Bergen, Sarah E, Blasi, Giuseppe, Bobes, Julio, Bonassi, Stefano, Braun, Alice, Bressan, Rodrigo Affonseca, Bromet, Evelyn J, Bruggeman, Richard, Buckley, Peter F, Buckner, Randy L, Bybjerg-Grauholm, Jonas, Cahn, Wiepke, Cairns, Murray J, Calkins, Monica E, Carr, Vaughan J, Castle, David, Catts, Stanley V, Chambert, Kimberley D, Chan, Raymond CK, Chaumette, Boris, Cheng, Wei, Cheung, Eric FC, Chong, Siow Ann, Cohen, David, Consoli, Angèle, Cordeiro, Quirino, Costas, Javier, Curtis, Charles, Davidson, Michael, Davis, Kenneth L, de Haan, Lieuwe, Degenhardt, Franziska, DeLisi, Lynn E, Demontis, Ditte, Dickerson, Faith, Dikeos, Dimitris, Dinan, Timothy, Djurovic, Srdjan, Duan, Jubao, Ducci, Giuseppe, Dudbridge, Frank, Eriksson, Johan G, Fañanás, Lourdes, Faraone, Stephen V, Fiorentino, Alessia, Forstner, Andreas, Frank, Josef, Freimer, Nelson B, Fromer, Menachem, Frustaci, Alessandra, Gadelha, Ary, Genovese, Giulio, and Gershon, Elliot S
Subjects: Brain Disorders, Human Genome, Mental Health, Schizophrenia, Serious Mental Illness, Biotechnology, Neurosciences, Genetics, Aetiology, 2.1 Biological and endogenous factors, Alleles, Genetic Predisposition to Disease, Genome-Wide Association Study, Genomics, Humans, Polymorphism, Single Nucleotide, Indonesia Schizophrenia Consortium, PsychENCODE, Psychosis Endophenotypes International Consortium, SynGO Consortium, Schizophrenia Working Group of the Psychiatric Genomics Consortium, General Science & Technology
Abstract: Schizophrenia has a heritability of 60-80%1, much of which is attributable to common risk alleles. Here, in a two-stage genome-wide association study of up to 76,755 individuals with schizophrenia and 243,649 control individuals, we report common variant associations at 287 distinct genomic loci. Associations were concentrated in genes that are expressed in excitatory and inhibitory neurons of the central nervous system, but not in other tissues or cell types. Using fine-mapping and functional genomic data, we identify 120 genes (106 protein-coding) that are likely to underpin associations at some of these loci, including 16 genes with credible causal non-synonymous or untranslated region variation. We also implicate fundamental processes related to neuronal function, including synaptic organization, differentiation and transmission. Fine-mapped candidates were enriched for genes associated with rare disruptive coding variants in people with schizophrenia, including the glutamate receptor subunit GRIN2A and transcription factor SP4, and were also enriched for genes implicated by such variants in neurodevelopmental disorders. We identify biological processes relevant to schizophrenia pathophysiology; show convergence of common and rare variant associations in schizophrenia and neurodevelopmental disorders; and provide a resource of prioritized genes and variants to advance mechanistic studies.
Published: 2022

91. Rare coding variants in ten genes confer substantial risk for schizophrenia.

Author: Singh, Tarjinder, Poterba, Timothy, Curtis, David, Akil, Huda, Al Eissa, Mariam, Barchas, Jack D, Bass, Nicholas, Bigdeli, Tim B, Breen, Gerome, Bromet, Evelyn J, Buckley, Peter F, Bunney, William E, Bybjerg-Grauholm, Jonas, Byerley, William F, Chapman, Sinéad B, Chen, Wei J, Churchhouse, Claire, Craddock, Nicholas, Cusick, Caroline M, DeLisi, Lynn, Dodge, Sheila, Escamilla, Michael A, Eskelinen, Saana, Fanous, Ayman H, Faraone, Stephen V, Fiorentino, Alessia, Francioli, Laurent, Gabriel, Stacey B, Gage, Diane, Gagliano Taliun, Sarah A, Ganna, Andrea, Genovese, Giulio, Glahn, David C, Grove, Jakob, Hall, Mei-Hua, Hämäläinen, Eija, Heyne, Henrike O, Holi, Matti, Hougaard, David M, Howrigan, Daniel P, Huang, Hailiang, Hwu, Hai-Gwo, Kahn, René S, Kang, Hyun Min, Karczewski, Konrad J, Kirov, George, Knowles, James A, Lee, Francis S, Lehrer, Douglas S, Lescai, Francesco, Malaspina, Dolores, Marder, Stephen R, McCarroll, Steven A, McIntosh, Andrew M, Medeiros, Helena, Milani, Lili, Morley, Christopher P, Morris, Derek W, Mortensen, Preben Bo, Myers, Richard M, Nordentoft, Merete, O'Brien, Niamh L, Olivares, Ana Maria, Ongur, Dost, Ouwehand, Willem H, Palmer, Duncan S, Paunio, Tiina, Quested, Digby, Rapaport, Mark H, Rees, Elliott, Rollins, Brandi, Satterstrom, F Kyle, Schatzberg, Alan, Scolnick, Edward, Scott, Laura J, Sharp, Sally I, Sklar, Pamela, Smoller, Jordan W, Sobell, Janet L, Solomonson, Matthew, Stahl, Eli A, Stevens, Christine R, Suvisaari, Jaana, Tiao, Grace, Watson, Stanley J, Watts, Nicholas A, Blackwood, Douglas H, Børglum, Anders D, Cohen, Bruce M, Corvin, Aiden P, Esko, Tõnu, Freimer, Nelson B, Glatt, Stephen J, Hultman, Christina M, McQuillin, Andrew, Palotie, Aarno, Pato, Carlos N, Pato, Michele T, Pulver, Ann E, and St Clair, David
Subjects: Humans, Genetic Predisposition to Disease, Receptors, N-Methyl-D-Aspartate, Case-Control Studies, Schizophrenia, Mutation, Exome, Neurodevelopmental Disorders, Human Genome, Biotechnology, Mental Health, Neurosciences, Brain Disorders, Genetics, Serious Mental Illness, Aetiology, 2.1 Biological and endogenous factors, Mental health, Neurological, General Science & Technology
Abstract: Rare coding variation has historically provided the most direct connections between gene function and disease pathogenesis. By meta-analysing the whole exomes of 24,248 schizophrenia cases and 97,322 controls, we implicate ultra-rare coding variants (URVs) in 10 genes as conferring substantial risk for schizophrenia (odds ratios of 3-50, P
Published: 2022

92. Epigenetic clock and methylation studies in vervet monkeys.

Author: Jasinska, Anna J, Haghani, Amin, Zoller, Joseph A, Li, Caesar Z, Arneson, Adriana, Ernst, Jason, Kavanagh, Kylie, Jorgensen, Matthew J, Mattison, Julie A, Wojta, Kevin, Choi, Oi-Wa, DeYoung, Joseph, Li, Xinmin, Rao, Andrew W, Coppola, Giovanni, Freimer, Nelson B, Woods, Roger P, and Horvath, Steve
Subjects: Animals, Mammals, Macaca mulatta, DNA Methylation, Epigenesis, Genetic, Longevity, Epigenomics, Chlorocebus aethiops, Aging, DNA methylation, Development, Epigenetic clock, Monkey, Vervet, Genetics, Biotechnology, Digestive Diseases, Underpinning research, 1.1 Normal biological development and functioning
Abstract: DNA methylation-based biomarkers of aging have been developed for many mammals but not yet for the vervet monkey (Chlorocebus sabaeus), which is a valuable non-human primate model for biomedical studies. We generated novel DNA methylation data from vervet cerebral cortex, blood, and liver using highly conserved mammalian CpGs represented on a custom array (HorvathMammalMethylChip40). We present six DNA methylation-based estimators of age: vervet multi-tissue epigenetic clock and tissue-specific clocks for brain cortex, blood, and liver. In addition, we developed two dual species clocks (human-vervet clocks) for measuring chronological age and relative age, respectively. Relative age was defined as ratio of chronological age to maximum lifespan to address the species differences in maximum lifespan. The high accuracy of the human-vervet clocks demonstrates that epigenetic aging processes are evolutionary conserved in primates. When applying these vervet clocks to tissue samples from another primate species, rhesus macaque, we observed high age correlations but strong offsets. We characterized CpGs that correlate significantly with age in the vervet. CpG probes that gain methylation with age across tissues were located near the targets of Polycomb proteins SUZ12 and EED and genes possessing the trimethylated H3K27 mark in their promoters. The epigenetic clocks are expected to be useful for anti-aging studies in vervets.
Published: 2022

93. Reduced benefits of climate-smart agricultural policies from land-use spillovers

Author: Lobell, David B. and Villoria, Nelson B.
Published: 2023
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94. Immunomodulatory therapy in children with paediatric inflammatory multisystem syndrome temporally associated with SARS-CoV-2 (PIMS-TS, MIS-C; RECOVERY): a randomised, controlled, open-label, platform trial

Author: Faust, Saul N, Haynes, Richard, Jones, Christine E, Staplin, Natalie, Whittaker, Elizabeth, Jaki, Thomas, Juszczak, Ed, Spata, Enti, Wan, Mandy, Bamford, Alasdair, Dimitri, Paul, Finn, Adam, Furness, John, Ramanan, Athimalaipet V, Gale, Christopher, Cathie, Katrina, Drysdale, Simon, Bernatoniene, Jolanta, Murray, Clare, Roehr, Charles C, Fleming, Paul, Riordan, Andrew, Bandi, Srini, Jyothish, Deepthi, Evans, Jennifer, Emonts, Marieke, Kelly, Dominic, Pathan, Nazima, Davies, Patrick, Hague, Rosie, Pollock, Louisa, Semple, Malcolm G, Peto, Leon, Baillie, J Kenneth, Buch, Maya, Jeffery, Katie, Knight, Marian, Lim, Wei Shen, Montgomery, Alan, Mukherjee, Aparna, Mumford, Andrew, Rowan, Kathryn, Thwaites, Guy, Mafham, Marion, Emberson, Jonathan, Landray, Martin J, Horby, Peter W, Chappell, Lucy, Day, Jeremy, Dung, DV, Quang, NN, Binh, Prof, Burhan, E, Alisjahbana, B, Koirala, J, Basnet, S, Kestelyn, E, Basnyat, B, Gyanwali, P, Hamers, RL, Sandercock, P, Darbyshire, J, DeMets, D, Fowler, R, Lalloo, D, Munavvar, M, Roberts, I, Warris, A, Wittes, J, Craddock-Bamford, A, Barton, J, Basoglu, A, Brown, R, Brudlo, W, Denis, E, Fletcher, L, Howard, S, Musini, S, Taylor, K, Cui, G, Goodenough, B, King, A, Lay, M, Murray, D, Stevens, W, Wallendszus, K, Welsh, R, Crichton, C, Davies, J, Goldacre, R, Harper, C, Knight, F, Nunn, M, Salih, H, Welch, J, Campbell, M, Pessoa-Amorim, G, Zayed, M, Wiles, J, Bagley, G, Cameron, S, Chamberlain, S, Farrell, B, Freeman, H, Kennedy, A, Whitehouse, A, Wilkinson, S, Wood, C, Reith, C, Davies, K, Halls, H, Holland, L, Truell, R, Wilson, K, Lingwood, Emma, Howie, L, Lunn, M, Rodgers, Penelope, Amuasi, J, Baird, K, Bao, T, Bittaye, M, Bonney, J, D'Alessandro, U, Dhimal, M, Huyen, T, Jagne, A, Karkey, A, Maiga, O, Matey, E, Nadjm, B, Nel, J, Pant, S, Puspatriani, K, Rahardjani, M, Raijal, S, Rees, H, Rimainar, A, Roberts, C, Rocca, A, Shrestha, S, Usuf, E, Vidaillic, C, Wulandari, F, Alexander, A, Amezaga, M, Armah, C, Asghar, A, Aubrey, P, Barker-Williams, K, Barnard, A, Bartholomew, J, Beaumont-Jewell, D, Beddows, S, Beety, J, Birch, C, Boyle, P, Brend, M, Brookes, M, Callens, C, Campbell, D, Campbell, H, Cate, H, Chambers, E, Chapman, K, Coe, A, Collins, J, Crawshaw, S, Das, S, De Soyza, A, Denton, E, Dicks, P, Dolman, M, Donaldson, K, Dowden, L, Dowling, S, Drake, C, Duckles-Leech, H, Duffy, H, Gerdes, L, Gibbons, K, Gill, L, Gilmour, K, Goodwin, J, Graham, J, Green, C, Hall, C, Hall, A, Hampshire, K, Hanson, J, Harman, T, Harper, H, Harrison, S, Hicks, J, Hodgson, H, Hough, M, Jackson, S, Johnson, G, Kirk, J, Lemoine, N, Levett, C, Lock, S, Lockett, T, Logan, M, Lomme, K, Luo, J, McMillan, N, Membrey, H, Mguni, N, Minton, J, Monaghan, H, Murphy, S, Muzengi, N, Naz, M, Nickson, I, Odam, M, Ohia, U, Okell, E, Oliver, A, Pearson, K, Pine, K, Pleass, R, Porter, D, Porter, L, Potter, A, Poustie, V, Pratt, S, Price, A, Priest, A, Rodgers, A, Rook, C, Ryan, P, Sam, S, Sharratt, P, Sheffield, J, Shenton, J, Shirley, K, 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P, Wubetu, J, Wulandari, R, Wurie, S, Wyatt, C, Wyn-Griffiths, F, Wynter, I, Xavier, B, Xhikola, A, Xia, B, Xia, Z, Y Ellis, T, Yacoba, E, Yakubi, M, Yan, M, Yanagisawa, Y, Yang, F, Yang, Y, Yanney, M, Yap, W, Yaqoob, N, Yasmin, S, Yates, B, Yates, D, Yates, E, Yates, H, Yates, M, Yates, T, Ye, J, Yearwood Martin, C, Yein, K, Yeoh, A, Yeung, C, Yew, P, Yewatkar, D, Ylquimiche Melly, L, Ynter, I, Yong, H, Yorke, J, Youens, J, Younes Ibrahim, A, Young, E, Young, G, Young, L, Yousafzar, A, Youssouf, S, Yousuf, A, Yu, C, Yuan, J, Yung, B, Yusef, D, Yusef, S, Yusuf, I, Zafar, A-M, Zagalo, S, Zaher, S, Zahoor, A, Zainab, M, Zak, T, Zaki, K, Zakir, N, Zalewska, K, Zamalloa, A, Zaman, M, Zaman, S, Zamikula, J, Zammit, L, Zammit-Mangion, M, Zawadzka, M, Zebracki, E, Zehnder, D, Zeidan, L, Zeinali, D, Zhang, J, Zhao, X, Zheng, D, Zia, M, Zibdeh, O, Zill-E-Huma, R, Zin, E, Zincone, E, Zindoga, G, Zinkin, E, Zinyemba, V, Zipitis, C, Zitter, L, Zmierczak, A, Zubikarai, G, Zubir, A, Zuhra, N, Zulaikha, R, Zulfikar, S, Zullo, C, and Zuriaga-Alvaro, A
Published: 2024
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95. Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci

Author: Yin, Xianyong, Chan, Lap Sum, Bose, Debraj, Jackson, Anne U, VandeHaar, Peter, Locke, Adam E, Fuchsberger, Christian, Stringham, Heather M, Welch, Ryan, Yu, Ketian, Fernandes Silva, Lilian, Service, Susan K, Zhang, Daiwei, Hector, Emily C, Young, Erica, Ganel, Liron, Das, Indraniel, Abel, Haley, Erdos, Michael R, Bonnycastle, Lori L, Kuusisto, Johanna, Stitziel, Nathan O, Hall, Ira M, Wagner, Gregory R, Kang, Jian, Morrison, Jean, Burant, Charles F, Collins, Francis S, Ripatti, Samuli, Palotie, Aarno, Freimer, Nelson B, Mohlke, Karen L, Scott, Laura J, Wen, Xiaoquan, Fauman, Eric B, Laakso, Markku, and Boehnke, Michael
Subjects: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Epidemiology, Health Sciences, Medical Biochemistry and Metabolomics, Human Genome, Clinical Research, Aetiology, 2.1 Biological and endogenous factors, Alleles, Finland, Gene Frequency, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Male, Phenotype, Polymorphism, Single Nucleotide, FinnGen
Abstract: Few studies have explored the impact of rare variants (minor allele frequency
Published: 2022

96. First-trimester Septic Abortion Due to Salmonella enteritidis Oranienburg

Author: LoriAnn Zettell, Russel D. Jelsema, and Nelson B. Isada
Subjects: Gynecology and obstetrics, RG1-991, Infectious and parasitic diseases, RC109-216
Abstract: Background: Septic abortion caused by transplacental salmonella infection is extremely rare; there are no reported cases of serotype oranienburg as an etiology.
Published: 1995
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97. Reduced etch lag and high aspect ratios by deep reactive ion etching (DRIE)

Author: Gerlt, M. S., Läubli, N. F., Manser, M., Nelson, B. J., and Dual, J.
Subjects: Physics - Plasma Physics, Physics - Applied Physics
Abstract: Deep reactive ion etching (DRIE) with the Bosch process is one of the key procedures used to manufacture micron-sized structures for MEMS and microfluidic applications in silicon and, hence, of increasing importance for miniaturization in biomedical research. While guaranteeing high aspect ratio structures and providing high design flexibility, the etching procedure suffers from reactive ion etching lag and often relies on complex oxide masks to enable deep etching. In this work, we introduce an optimized Bosch process that reduces the etch lag to below 1.5 %. Furthermore, we improved a three-step Bosch process, allowing the fabrication of structures with 6 micrometre thickness at depths up to 180 micrometre while maintaining their stability.
Published: 2021
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98. Mitigating Fugitive Methane Emissions from Closed Landfills: A Pilot-Scale Field Study

Author: Nelson, B. R., Zytner, R. G., Kanmacher, Z. L., Yochim, A., Vaillancourt, R., Boss, B., Dulac, Y., Cabral, A. R., di Prisco, Marco, Series Editor, Chen, Sheng-Hong, Series Editor, Vayas, Ioannis, Series Editor, Kumar Shukla, Sanjay, Series Editor, Sharma, Anuj, Series Editor, Kumar, Nagesh, Series Editor, Wang, Chien Ming, Series Editor, Walbridge, Scott, editor, Nik-Bakht, Mazdak, editor, Ng, Kelvin Tsun Wai, editor, Shome, Manas, editor, Alam, M. Shahria, editor, El Damatty, Ashraf, editor, and Lovegrove, Gordon, editor
Published: 2023
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99. Identifying nootropic drug targets via large-scale cognitive GWAS and transcriptomics.

Author: Lam, Max, Chen, Chia-Yen, Ge, Tian, Xia, Yan, Hill, David W, Trampush, Joey W, Yu, Jin, Knowles, Emma, Davies, Gail, Stahl, Eli A, Huckins, Laura, Liewald, David C, Djurovic, Srdjan, Melle, Ingrid, Christoforou, Andrea, Reinvang, Ivar, DeRosse, Pamela, Lundervold, Astri J, Steen, Vidar M, Espeseth, Thomas, Räikkönen, Katri, Widen, Elisabeth, Palotie, Aarno, Eriksson, Johan G, Giegling, Ina, Konte, Bettina, Hartmann, Annette M, Roussos, Panos, Giakoumaki, Stella, Burdick, Katherine E, Payton, Antony, Ollier, William, Chiba-Falek, Ornit, Koltai, Deborah C, Need, Anna C, Cirulli, Elizabeth T, Voineskos, Aristotle N, Stefanis, Nikos C, Avramopoulos, Dimitrios, Hatzimanolis, Alex, Smyrnis, Nikolaos, Bilder, Robert M, Freimer, Nelson B, Cannon, Tyrone D, London, Edythe, Poldrack, Russell A, Sabb, Fred W, Congdon, Eliza, Conley, Emily Drabant, Scult, Matthew A, Dickinson, Dwight, Straub, Richard E, Donohoe, Gary, Morris, Derek, Corvin, Aiden, Gill, Michael, Hariri, Ahmad R, Weinberger, Daniel R, Pendleton, Neil, Bitsios, Panos, Rujescu, Dan, Lahti, Jari, Le Hellard, Stephanie, Keller, Matthew C, Andreassen, Ole A, Deary, Ian J, Glahn, David C, Huang, Hailiang, Liu, Chunyu, Malhotra, Anil K, and Lencz, Todd
Subjects: Humans, Nootropic Agents, Cognition, Schizophrenia, Genome-Wide Association Study, Transcriptome, Psychiatry, Medical and Health Sciences, Psychology and Cognitive Sciences
Abstract: Broad-based cognitive deficits are an enduring and disabling symptom for many patients with severe mental illness, and these impairments are inadequately addressed by current medications. While novel drug targets for schizophrenia and depression have emerged from recent large-scale genome-wide association studies (GWAS) of these psychiatric disorders, GWAS of general cognitive ability can suggest potential targets for nootropic drug repurposing. Here, we (1) meta-analyze results from two recent cognitive GWAS to further enhance power for locus discovery; (2) employ several complementary transcriptomic methods to identify genes in these loci that are credibly associated with cognition; and (3) further annotate the resulting genes using multiple chemoinformatic databases to identify "druggable" targets. Using our meta-analytic data set (N = 373,617), we identified 241 independent cognition-associated loci (29 novel), and 76 genes were identified by 2 or more methods of gene identification. Actin and chromatin binding gene sets were identified as novel pathways that could be targeted via drug repurposing. Leveraging our transcriptomic and chemoinformatic databases, we identified 16 putative genes targeted by existing drugs potentially available for cognitive repurposing.
Published: 2021

100. Multi-ancestry genetic analysis of gene regulation in coronary arteries prioritizes disease risk loci

Author: Hodonsky, Chani J., Turner, Adam W., Khan, Mohammad Daud, Barrientos, Nelson B., Methorst, Ruben, Ma, Lijiang, Lopez, Nicolas G., Mosquera, Jose Verdezoto, Auguste, Gaëlle, Farber, Emily, Ma, Wei Feng, Wong, Doris, Onengut-Gumuscu, Suna, Kavousi, Maryam, Peyser, Patricia A., van der Laan, Sander W., Leeper, Nicholas J., Kovacic, Jason C., Björkegren, Johan L.M., and Miller, Clint L.
Published: 2024
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