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JOURNAL ARTICLE
Nicholas E Clifton, Matthew L Bosworth, Niels Haan, Elliott Rees, Peter A Holmans, Lawrence S Wilkinson, Anthony R Isles, Mark O Collins, Jeremy Hall
Large-scale genomic studies of schizophrenia implicate genes involved in the epigenetic regulation of transcription by histone methylation and genes encoding components of the synapse. However, the interactions between these pathways in conferring risk to psychiatric illness are unknown. Loss-of-function (LoF) mutations in the gene encoding histone methyltransferase, SETD1A, confer substantial risk to schizophrenia. Among several roles, SETD1A is thought to be involved in the development and function of neuronal circuits...
May 9, 2022: Human Molecular Genetics
#22
JOURNAL ARTICLE
Céline Bellenguez, Fahri Küçükali, Iris E Jansen, Luca Kleineidam, Sonia Moreno-Grau, Najaf Amin, Adam C Naj, Rafael Campos-Martin, Benjamin Grenier-Boley, Victor Andrade, Peter A Holmans, Anne Boland, Vincent Damotte, Sven J van der Lee, Marcos R Costa, Teemu Kuulasmaa, Qiong Yang, Itziar de Rojas, Joshua C Bis, Amber Yaqub, Ivana Prokic, Julien Chapuis, Shahzad Ahmad, Vilmantas Giedraitis, Dag Aarsland, Pablo Garcia-Gonzalez, Carla Abdelnour, Emilio Alarcón-Martín, Daniel Alcolea, Montserrat Alegret, Ignacio Alvarez, Victoria Álvarez, Nicola J Armstrong, Anthoula Tsolaki, Carmen Antúnez, Ildebrando Appollonio, Marina Arcaro, Silvana Archetti, Alfonso Arias Pastor, Beatrice Arosio, Lavinia Athanasiu, Henri Bailly, Nerisa Banaj, Miquel Baquero, Sandra Barral, Alexa Beiser, Ana Belén Pastor, Jennifer E Below, Penelope Benchek, Luisa Benussi, Claudine Berr, Céline Besse, Valentina Bessi, Giuliano Binetti, Alessandra Bizarro, Rafael Blesa, Mercè Boada, Eric Boerwinkle, Barbara Borroni, Silvia Boschi, Paola Bossù, Geir Bråthen, Jan Bressler, Catherine Bresner, Henry Brodaty, Keeley J Brookes, Luis Ignacio Brusco, Dolores Buiza-Rueda, Katharina Bûrger, Vanessa Burholt, William S Bush, Miguel Calero, Laura B Cantwell, Geneviève Chene, Jaeyoon Chung, Michael L Cuccaro, Ángel Carracedo, Roberta Cecchetti, Laura Cervera-Carles, Camille Charbonnier, Hung-Hsin Chen, Caterina Chillotti, Simona Ciccone, Jurgen A H R Claassen, Christopher Clark, Elisa Conti, Anaïs Corma-Gómez, Emanuele Costantini, Carlo Custodero, Delphine Daian, Maria Carolina Dalmasso, Antonio Daniele, Efthimios Dardiotis, Jean-François Dartigues, Peter Paul de Deyn, Katia de Paiva Lopes, Lot D de Witte, Stéphanie Debette, Jürgen Deckert, Teodoro Del Ser, Nicola Denning, Anita DeStefano, Martin Dichgans, Janine Diehl-Schmid, Mónica Diez-Fairen, Paolo Dionigi Rossi, Srdjan Djurovic, Emmanuelle Duron, Emrah Düzel, Carole Dufouil, Gudny Eiriksdottir, Sebastiaan Engelborghs, Valentina Escott-Price, Ana Espinosa, Michael Ewers, Kelley M Faber, Tagliavini Fabrizio, Sune Fallgaard Nielsen, David W Fardo, Lucia Farotti, Chiara Fenoglio, Marta Fernández-Fuertes, Raffaele Ferrari, Catarina B Ferreira, Evelyn Ferri, Bertrand Fin, Peter Fischer, Tormod Fladby, Klaus Fließbach, Bernard Fongang, Myriam Fornage, Juan Fortea, Tatiana M Foroud, Silvia Fostinelli, Nick C Fox, Emlio Franco-Macías, María J Bullido, Ana Frank-García, Lutz Froelich, Brian Fulton-Howard, Daniela Galimberti, Jose Maria García-Alberca, Pablo García-González, Sebastian Garcia-Madrona, Guillermo Garcia-Ribas, Roberta Ghidoni, Ina Giegling, Giaccone Giorgio, Alison M Goate, Oliver Goldhardt, Duber Gomez-Fonseca, Antonio González-Pérez, Caroline Graff, Giulia Grande, Emma Green, Timo Grimmer, Edna Grünblatt, Michelle Grunin, Vilmundur Gudnason, Tamar Guetta-Baranes, Annakaisa Haapasalo, Georgios Hadjigeorgiou, Jonathan L Haines, Kara L Hamilton-Nelson, Harald Hampel, Olivier Hanon, John Hardy, Annette M Hartmann, Lucrezia Hausner, Janet Harwood, Stefanie Heilmann-Heimbach, Seppo Helisalmi, Michael T Heneka, Isabel Hernández, Martin J Herrmann, Per Hoffmann, Clive Holmes, Henne Holstege, Raquel Huerto Vilas, Marc Hulsman, Jack Humphrey, Geert Jan Biessels, Xueqiu Jian, Charlotte Johansson, Gyungah R Jun, Yuriko Kastumata, John Kauwe, Patrick G Kehoe, Lena Kilander, Anne Kinhult Ståhlbom, Miia Kivipelto, Anne Koivisto, Johannes Kornhuber, Mary H Kosmidis, Walter A Kukull, Pavel P Kuksa, Brian W Kunkle, Amanda B Kuzma, Carmen Lage, Erika J Laukka, Lenore Launer, Alessandra Lauria, Chien-Yueh Lee, Jenni Lehtisalo, Ondrej Lerch, Alberto Lleó, William Longstreth, Oscar Lopez, Adolfo Lopez de Munain, Seth Love, Malin Löwemark, Lauren Luckcuck, Kathryn L Lunetta, Yiyi Ma, Juan Macías, Catherine A MacLeod, Wolfgang Maier, Francesca Mangialasche, Marco Spallazzi, Marta Marquié, Rachel Marshall, Eden R Martin, Angel Martín Montes, Carmen Martínez Rodríguez, Carlo Masullo, Richard Mayeux, Simon Mead, Patrizia Mecocci, Miguel Medina, Alun Meggy, Shima Mehrabian, Silvia Mendoza, Manuel Menéndez-González, Pablo Mir, Susanne Moebus, Merel Mol, Laura Molina-Porcel, Laura Montrreal, Laura Morelli, Fermin Moreno, Kevin Morgan, Thomas Mosley, Markus M Nöthen, Carolina Muchnik, Shubhabrata Mukherjee, Benedetta Nacmias, Tiia Ngandu, Gael Nicolas, Børge G Nordestgaard, Robert Olaso, Adelina Orellana, Michela Orsini, Gemma Ortega, Alessandro Padovani, Caffarra Paolo, Goran Papenberg, Lucilla Parnetti, Florence Pasquier, Pau Pastor, Gina Peloso, Alba Pérez-Cordón, Jordi Pérez-Tur, Pierre Pericard, Oliver Peters, Yolande A L Pijnenburg, Juan A Pineda, Gerard Piñol-Ripoll, Claudia Pisanu, Thomas Polak, Julius Popp, Danielle Posthuma, Josef Priller, Raquel Puerta, Olivier Quenez, Inés Quintela, Jesper Qvist Thomassen, Alberto Rábano, Innocenzo Rainero, Farid Rajabli, Inez Ramakers, Luis M Real, Marcel J T Reinders, Christiane Reitz, Dolly Reyes-Dumeyer, Perry Ridge, Steffi Riedel-Heller, Peter Riederer, Natalia Roberto, Eloy Rodriguez-Rodriguez, Arvid Rongve, Irene Rosas Allende, Maitée Rosende-Roca, Jose Luis Royo, Elisa Rubino, Dan Rujescu, María Eugenia Sáez, Paraskevi Sakka, Ingvild Saltvedt, Ángela Sanabria, María Bernal Sánchez-Arjona, Florentino Sanchez-Garcia, Pascual Sánchez Juan, Raquel Sánchez-Valle, Sigrid B Sando, Chloé Sarnowski, Claudia L Satizabal, Michela Scamosci, Nikolaos Scarmeas, Elio Scarpini, Philip Scheltens, Norbert Scherbaum, Martin Scherer, Matthias Schmid, Anja Schneider, Jonathan M Schott, Geir Selbæk, Davide Seripa, Manuel Serrano, Jin Sha, Alexey A Shadrin, Olivia Skrobot, Susan Slifer, Gijsje J L Snijders, Hilkka Soininen, Vincenzo Solfrizzi, Alina Solomon, Yeunjoo Song, Sandro Sorbi, Oscar Sotolongo-Grau, Gianfranco Spalletta, Annika Spottke, Alessio Squassina, Eystein Stordal, Juan Pablo Tartan, Lluís Tárraga, Niccolo Tesí, Anbupalam Thalamuthu, Tegos Thomas, Giuseppe Tosto, Latchezar Traykov, Lucio Tremolizzo, Anne Tybjærg-Hansen, Andre Uitterlinden, Abbe Ullgren, Ingun Ulstein, Sergi Valero, Otto Valladares, Christine Van Broeckhoven, Jeffery Vance, Badri N Vardarajan, Aad van der Lugt, Jasper Van Dongen, Jeroen van Rooij, John van Swieten, Rik Vandenberghe, Frans Verhey, Jean-Sébastien Vidal, Jonathan Vogelgsang, Martin Vyhnalek, Michael Wagner, David Wallon, Li-San Wang, Ruiqi Wang, Leonie Weinhold, Jens Wiltfang, Gill Windle, Bob Woods, Mary Yannakoulia, Habil Zare, Yi Zhao, Xiaoling Zhang, Congcong Zhu, Miren Zulaica, Lindsay A Farrer, Bruce M Psaty, Mohsen Ghanbari, Towfique Raj, Perminder Sachdev, Karen Mather, Frank Jessen, M Arfan Ikram, Alexandre de Mendonça, Jakub Hort, Magda Tsolaki, Margaret A Pericak-Vance, Philippe Amouyel, Julie Williams, Ruth Frikke-Schmidt, Jordi Clarimon, Jean-François Deleuze, Giacomina Rossi, Sudha Seshadri, Ole A Andreassen, Martin Ingelsson, Mikko Hiltunen, Kristel Sleegers, Gerard D Schellenberg, Cornelia M van Duijn, Rebecca Sims, Wiesje M van der Flier, Agustín Ruiz, Alfredo Ramirez, Jean-Charles Lambert
Characterization of the genetic landscape of Alzheimer's disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/'proxy' AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication...
April 2022: Nature Genetics
#23
JOURNAL ARTICLE
Samuel D L Holman, Alfie G Wills, Neal J Fazakerley, Darren L Poole, Diane M Coe, Leonard Berlouis, Marc Reid
An electrochemical method for the green and practical synthesis of a broad range of substituted isoxazoline cores is presented. Both aryl and more challenging alkyl aldoximes are converted to the desired isoxazoline via an electrochemically enabled regio- and diastereoselective reaction with electron-deficient alkenes. Additionally, in-situ reaction monitoring methods compatible with electrochemistry equipment have also been developed in order to probe the reaction pathway. Supporting analyses from kinetic (timecourse) modeling and density functional theory support a stepwise, radical-mediated mechanism, and discounts hypothesized involvement of closed shell [3+2] cycloaddition pathways...
January 25, 2022: Chemistry: a European Journal
#24
RANDOMIZED CONTROLLED TRIAL
Brian M Slomovitz, Virginia L Filiaci, Joan L Walker, Michael C Taub, Karen A Finkelstein, John W Moroney, Aimee C Fleury, Carolyn Y Muller, Laura L Holman, Larry J Copeland, David S Miller, Robert L Coleman
BACKGROUND: Blocking the PI3K/AKT/mTOR pathway decreases resistance to hormonal therapy in endometrial carcinoma (EC). OBJECTIVE: In this study, the aim was to assess the efficacy and tolerability of everolimus(E)/letrozole (L) or medroxyprogesterone acetate(M)/tamoxifen(T) in the treatment of metastatic EC. STUDY DESIGN: This single stage, open-label two arm randomized phase II trial accrued women with advanced/persistent/recurrent EC. Treatment with E (10 mg daily) and L (2...
March 2022: Gynecologic Oncology
#25
JOURNAL ARTICLE
Jiaqi Ren, Jack R T Darby, Mitchell C Lock, Stacey L Holman, Brahmdeep S Saini, Emma L Bradshaw, Sandra Orgeig, Sunthara R Perumal, Michael D Wiese, Christopher K Macgowan, Mike Seed, Janna L Morrison
KEY POINTS: Maternal undernutrition during gestation alters fetal lung development by impacting surfactant maturation. However, the direction of change remains controversial. We examined the effects of maternal late gestation maternal undernutrition (LGUN) on maternal and fetal outcomes, signaling pathways involved in fetal lung development, pulmonary hemodynamics and oxygen delivery in sheep using a combination of molecular and MRI techniques. LGUN decreased fetal plasma glucose concentration without affecting arterial...
September 6, 2021: Journal of Physiology
#26
JOURNAL ARTICLE
Ruth E Jones, Robert Andrews, Peter Holmans, Matthew Hill, Philip R Taylor
Genetic association studies have identified multiple variants at the SPI1 locus that modify risk and age of onset for Alzheimer's Disease (AD). Reports linking risk variants to gene expression suggest that variants denoting higher SPI1 expression are likely to have an earlier AD onset, and several other AD risk genes contain PU.1 binding sites in the promoter region. Overall, this suggests the level of SPI1 may alter microglial phenotype potentially impacting AD. This study determined how the microglial transcriptome was altered following modest changes to Spi1 expression in primary mouse microglia...
July 22, 2021: Scientific Reports
#27
JOURNAL ARTICLE
Yang Guo, Ze-Yan Yu, Jianxin Wu, Hutao Gong, Scott Kesteven, Siiri E Iismaa, Andrea Y Chan, Sara Holman, Silvia Pinto, Andy Pironet, Charles D Cox, Robert M Graham, Rudi Vennekens, Michael P Feneley, Boris Martinac
Pathological left ventricular hypertrophy (LVH) occurs in response to pressure overload and remains the single most important clinical predictor of cardiac mortality. The molecular pathways in the induction of pressure overload LVH are potential targets for therapeutic intervention. Current treatments aim to remove the pressure overload stimulus for LVH, but do not completely reverse adverse cardiac remodelling. Although numerous molecular signalling steps in the induction of LVH have been identified, the initial step by which mechanical stretch associated with cardiac pressure overload is converted into a chemical signal that initiates hypertrophic signalling remains unresolved...
June 30, 2021: ELife
#28
JOURNAL ARTICLE
Eun Pyo Hong, Michael J Chao, Thomas Massey, Branduff McAllister, Sergey Lobanov, Lesley Jones, Peter Holmans, Seung Kwak, Michael Orth, Marc Ciosi, Darren G Monckton, Jeffrey D Long, Diane Lucente, Vanessa C Wheeler, Marcy E MacDonald, James F Gusella, Jong-Min Lee
BACKGROUND: Huntington's disease (HD) is caused by an expanded (>35) CAG trinucleotide repeat in huntingtin (HTT). Age-at-onset of motor symptoms is inversely correlated with the size of the inherited CAG repeat, which expands further in brain regions due to somatic repeat instability. Our recent genetic investigation focusing on autosomal SNPs revealed that age-at-onset is also influenced by genetic variation at many loci, the majority of which encode genes involved in DNA maintenance/repair processes and repeat instability...
June 22, 2021: Journal of Huntington's Disease
#29
JOURNAL ARTICLE
Kunal K Sindhu, Jared P Rowley, William H Smith, Anthony D Nehlsen, Andrew W Smith, Eric J Lehrer, Stanislav Lazarev, Kenneth E Rosenzweig, Michael Buckstein
PURPOSE: There has not been an assessment of the Holman Research Pathway (HRP) in radiation oncology (RO) in nearly 10 years. In this study, we sought to review the demographic characteristics, research productivity during and after residency, job placements, and National Institutes of Health (NIH) grant funding of RO residents who completed the HRP in the modern era. METHODS AND MATERIALS: We created a comprehensive database of RO residents who completed the HRP between 2010 and 2019...
June 17, 2021: International Journal of Radiation Oncology, Biology, Physics
#30
JOURNAL ARTICLE
Alaa El-Din A Bekhit, Stephen G Giteru, Benjamin W B Holman, David L Hopkins
The use of total volatile basic nitrogen (TVB-N) as a quality parameter for fish is rapidly growing to include other types of meat. Investigations of meat quality have recently focused on TVB-N as an index of freshness, but little is known on the biochemical pathways involved in its generation. Furthermore, TVB-N and methylated amines have been reported to exert deterimental health effects, but the relationship between these compounds and human health has not been critically reviewed. Here, literature on the formative pathways of TVB-N has been reviewed in depth...
May 30, 2021: Comprehensive Reviews in Food Science and Food Safety
#31
JOURNAL ARTICLE
Wan-Chen Tsai, Chakrapani Kalyanaraman, Adriana Yamaguchi, Michael Holinstat, Matthew P Jacobson, Theodore R Holman
In this paper, human platelet 12-lipoxygenase [h12-LOX (ALOX12)], human reticulocyte 15-lipoxygenase-1 [h15-LOX-1 (ALOX15)], and human epithelial 15-lipoxygenase-2 [h15-LOX-2 (ALOX15B)] were observed to react with docosahexaenoic acid (DHA) and produce 17 S -hydroperoxy-4 Z ,7 Z ,10 Z ,13 Z ,15 E ,19 Z -docosahexaenoic acid (17S-HpDHA). The k cat / K M values with DHA for h12-LOX, h15-LOX-1, and h15-LOX-2 were 12, 0.35, and 0.43 s-1 μM-1 , respectively, which demonstrate h12-LOX as the most efficient of the three...
May 24, 2021: Biochemistry
#32
JOURNAL ARTICLE
Christopher S Krumm, Xu Xu, Curtis J Bare, Corey D Holman, Sander Kersten, Lukas E Dow, Ann-Hwee Lee, David E Cohen
Cyclic AMP-responsive element-binding protein H (CREBH encoded by Creb3l3) is a transcription factor that regulates the expression of genes that control lipid and glucose metabolism, as well as inflammation. CREBH is upregulated in the liver under conditions of overnutrition, and mice globally lacking the gene (CREBH-/- ) are highly susceptible to diet-induced obesity, insulin resistance (IR) and hepatic steatosis. The net protective effects of CREBH have been attributed in large part to the activities of Fibroblast growth factor (Fgf)-21 (Fgf21), a target gene that promotes weight loss, improves glucose homeostasis and reduces hepatic lipid accumulation...
May 20, 2021: Journal of Biological Chemistry
#33
JOURNAL ARTICLE
Niamh Mullins, Andreas J Forstner, Kevin S O'Connell, Brandon Coombes, Jonathan R I Coleman, Zhen Qiao, Thomas D Als, Tim B Bigdeli, Sigrid Børte, Julien Bryois, Alexander W Charney, Ole Kristian Drange, Michael J Gandal, Saskia P Hagenaars, Masashi Ikeda, Nolan Kamitaki, Minsoo Kim, Kristi Krebs, Georgia Panagiotaropoulou, Brian M Schilder, Laura G Sloofman, Stacy Steinberg, Vassily Trubetskoy, Bendik S Winsvold, Hong-Hee Won, Liliya Abramova, Kristina Adorjan, Esben Agerbo, Mariam Al Eissa, Diego Albani, Ney Alliey-Rodriguez, Adebayo Anjorin, Verneri Antilla, Anastasia Antoniou, Swapnil Awasthi, Ji Hyun Baek, Marie Bækvad-Hansen, Nicholas Bass, Michael Bauer, Eva C Beins, Sarah E Bergen, Armin Birner, Carsten Bøcker Pedersen, Erlend Bøen, Marco P Boks, Rosa Bosch, Murielle Brum, Ben M Brumpton, Nathalie Brunkhorst-Kanaan, Monika Budde, Jonas Bybjerg-Grauholm, William Byerley, Murray Cairns, Miquel Casas, Pablo Cervantes, Toni-Kim Clarke, Cristiana Cruceanu, Alfredo Cuellar-Barboza, Julie Cunningham, David Curtis, Piotr M Czerski, Anders M Dale, Nina Dalkner, Friederike S David, Franziska Degenhardt, Srdjan Djurovic, Amanda L Dobbyn, Athanassios Douzenis, Torbjørn Elvsåshagen, Valentina Escott-Price, I Nicol Ferrier, Alessia Fiorentino, Tatiana M Foroud, Liz Forty, Josef Frank, Oleksandr Frei, Nelson B Freimer, Louise Frisén, Katrin Gade, Julie Garnham, Joel Gelernter, Marianne Giørtz Pedersen, Ian R Gizer, Scott D Gordon, Katherine Gordon-Smith, Tiffany A Greenwood, Jakob Grove, José Guzman-Parra, Kyooseob Ha, Magnus Haraldsson, Martin Hautzinger, Urs Heilbronner, Dennis Hellgren, Stefan Herms, Per Hoffmann, Peter A Holmans, Laura Huckins, Stéphane Jamain, Jessica S Johnson, Janos L Kalman, Yoichiro Kamatani, James L Kennedy, Sarah Kittel-Schneider, James A Knowles, Manolis Kogevinas, Maria Koromina, Thorsten M Kranz, Henry R Kranzler, Michiaki Kubo, Ralph Kupka, Steven A Kushner, Catharina Lavebratt, Jacob Lawrence, Markus Leber, Heon-Jeong Lee, Phil H Lee, Shawn E Levy, Catrin Lewis, Calwing Liao, Susanne Lucae, Martin Lundberg, Donald J MacIntyre, Sigurdur H Magnusson, Wolfgang Maier, Adam Maihofer, Dolores Malaspina, Eirini Maratou, Lina Martinsson, Manuel Mattheisen, Steven A McCarroll, Nathaniel W McGregor, Peter McGuffin, James D McKay, Helena Medeiros, Sarah E Medland, Vincent Millischer, Grant W Montgomery, Jennifer L Moran, Derek W Morris, Thomas W Mühleisen, Niamh O'Brien, Claire O'Donovan, Loes M Olde Loohuis, Lilijana Oruc, Sergi Papiol, Antonio F Pardiñas, Amy Perry, Andrea Pfennig, Evgenia Porichi, James B Potash, Digby Quested, Towfique Raj, Mark H Rapaport, J Raymond DePaulo, Eline J Regeer, John P Rice, Fabio Rivas, Margarita Rivera, Julian Roth, Panos Roussos, Douglas M Ruderfer, Cristina Sánchez-Mora, Eva C Schulte, Fanny Senner, Sally Sharp, Paul D Shilling, Engilbert Sigurdsson, Lea Sirignano, Claire Slaney, Olav B Smeland, Daniel J Smith, Janet L Sobell, Christine Søholm Hansen, Maria Soler Artigas, Anne T Spijker, Dan J Stein, John S Strauss, Beata Świątkowska, Chikashi Terao, Thorgeir E Thorgeirsson, Claudio Toma, Paul Tooney, Evangelia-Eirini Tsermpini, Marquis P Vawter, Helmut Vedder, James T R Walters, Stephanie H Witt, Simon Xi, Wei Xu, Jessica Mei Kay Yang, Allan H Young, Hannah Young, Peter P Zandi, Hang Zhou, Lea Zillich, Rolf Adolfsson, Ingrid Agartz, Martin Alda, Lars Alfredsson, Gulja Babadjanova, Lena Backlund, Bernhard T Baune, Frank Bellivier, Susanne Bengesser, Wade H Berrettini, Douglas H R Blackwood, Michael Boehnke, Anders D Børglum, Gerome Breen, Vaughan J Carr, Stanley Catts, Aiden Corvin, Nicholas Craddock, Udo Dannlowski, Dimitris Dikeos, Tõnu Esko, Bruno Etain, Panagiotis Ferentinos, Mark Frye, Janice M Fullerton, Micha Gawlik, Elliot S Gershon, Fernando S Goes, Melissa J Green, Maria Grigoroiu-Serbanescu, Joanna Hauser, Frans Henskens, Jan Hillert, Kyung Sue Hong, David M Hougaard, Christina M Hultman, Kristian Hveem, Nakao Iwata, Assen V Jablensky, Ian Jones, Lisa A Jones, René S Kahn, John R Kelsoe, George Kirov, Mikael Landén, Marion Leboyer, Cathryn M Lewis, Qingqin S Li, Jolanta Lissowska, Christine Lochner, Carmel Loughland, Nicholas G Martin, Carol A Mathews, Fermin Mayoral, Susan L McElroy, Andrew M McIntosh, Francis J McMahon, Ingrid Melle, Patricia Michie, Lili Milani, Philip B Mitchell, Gunnar Morken, Ole Mors, Preben Bo Mortensen, Bryan Mowry, Bertram Müller-Myhsok, Richard M Myers, Benjamin M Neale, Caroline M Nievergelt, Merete Nordentoft, Markus M Nöthen, Michael C O'Donovan, Ketil J Oedegaard, Tomas Olsson, Michael J Owen, Sara A Paciga, Chris Pantelis, Carlos Pato, Michele T Pato, George P Patrinos, Roy H Perlis, Danielle Posthuma, Josep Antoni Ramos-Quiroga, Andreas Reif, Eva Z Reininghaus, Marta Ribasés, Marcella Rietschel, Stephan Ripke, Guy A Rouleau, Takeo Saito, Ulrich Schall, Martin Schalling, Peter R Schofield, Thomas G Schulze, Laura J Scott, Rodney J Scott, Alessandro Serretti, Cynthia Shannon Weickert, Jordan W Smoller, Hreinn Stefansson, Kari Stefansson, Eystein Stordal, Fabian Streit, Patrick F Sullivan, Gustavo Turecki, Arne E Vaaler, Eduard Vieta, John B Vincent, Irwin D Waldman, Thomas W Weickert, Thomas Werge, Naomi R Wray, John-Anker Zwart, Joanna M Biernacka, John I Nurnberger, Sven Cichon, Howard J Edenberg, Eli A Stahl, Andrew McQuillin, Arianna Di Florio, Roel A Ophoff, Ole A Andreassen
Bipolar disorder is a heritable mental illness with complex etiology. We performed a genome-wide association study of 41,917 bipolar disorder cases and 371,549 controls of European ancestry, which identified 64 associated genomic loci. Bipolar disorder risk alleles were enriched in genes in synaptic signaling pathways and brain-expressed genes, particularly those with high specificity of expression in neurons of the prefrontal cortex and hippocampus. Significant signal enrichment was found in genes encoding targets of antipsychotics, calcium channel blockers, antiepileptics and anesthetics...
June 2021: Nature Genetics
#34
JOURNAL ARTICLE
Nicholas E Clifton, Leonardo Collado-Torres, Emily E Burke, Antonio F Pardiñas, Janet C Harwood, Arianna Di Florio, James T R Walters, Michael J Owen, Michael C O'Donovan, Daniel R Weinberger, Peter A Holmans, Andrew E Jaffe, Jeremy Hall
BACKGROUND: Recent breakthroughs in psychiatric genetics have implicated biological pathways onto which genetic risk for psychiatric disorders converges. However, these studies do not reveal the developmental time point(s) at which these pathways are relevant. METHODS: We aimed to determine the relationship between psychiatric risk and developmental gene expression relating to discrete biological pathways. We used postmortem RNA sequencing data (BrainSeq and BrainSpan) from brain tissue at multiple prenatal and postnatal time points, with summary statistics from recent genome-wide association studies of schizophrenia, bipolar disorder, and major depressive disorder...
September 15, 2021: Biological Psychiatry
#35
JOURNAL ARTICLE
Janet C Harwood, Ganna Leonenko, Rebecca Sims, Valentina Escott-Price, Julie Williams, Peter Holmans
Defining the mechanisms involved in the aetiology of Alzheimer's disease from genome-wide association studies alone is challenging since Alzheimer's disease is polygenic and most genetic variants are non-coding. Non-coding Alzheimer's disease risk variants can influence gene expression by affecting miRNA binding and those located within enhancers and within CTCF sites may influence gene expression through alterations in chromatin states. In addition, their function can be cell-type specific. They can function specifically in microglial enhancers thus affecting gene expression in the brain...
2021: Brain communications
#36
JOURNAL ARTICLE
Uttio Roy Chowdhury, Cindy K Bahler, Cheryl R Hann, Bradley H Holman, Michael P Fautsch
Ocular hypertension occurs due to increased resistance to aqueous humor removal through the conventional outflow pathway. Unlike the proximal region of the conventional outflow pathway, the distal region has not been well studied, mostly due to lack of model systems. Here we describe isolation and characterization of human primary vascular distal outflow pathway (VDOP) cells from the distal region of the conventional outflow pathway. Tissue from the distal region was isolated from human corneo-scleral rims, digested with collagenase type I (100 U/ml) and placed on gelatin coated plates to allow cellular growth in Dulbecco's Modified Eagle's Medium (low glucose) containing fetal bovine serum and antibiotic/antimycotic...
February 17, 2021: Scientific Reports
#37
JOURNAL ARTICLE
Joseph K Salama, Scott R Floyd, Christopher G Willett, David G Kirsch
There is a need to foster future generations of radiation oncology physician scientists, but the number of radiation oncologists with sufficient education, training, and funding to make transformative discoveries is relatively small. A large number of MD/PhD graduates have entered he field of radiation oncology over the past 2 decades, but this has not led to a significant cohort of externally funded physician scientists. Because radiation oncologists leading independent research labs have the potential to make transformative discoveries that advance our field and positively affect patients with cancer, we created the Duke Radiation Oncology Research Scholar (RORS) Program...
January 4, 2021: International Journal of Radiation Oncology, Biology, Physics
#38
JOURNAL ARTICLE
Simona Pedde, Paula A Harrison, Ian P Holman, Gary D Powney, Stephen Lofts, Reto Schmucki, Marc Gramberger, James M Bullock
As the pressure to take action against global warming is growing in urgency, scenarios that incorporate multiple social, economic and environmental drivers become increasingly critical to support governments and other stakeholders in planning climate change mitigation or adaptation actions. This has led to the recent explosion of future scenario analyses at multiple scales, further accelerated since the development of the Intergovernmental Panel on Climate Change (IPCC) research community Shared Socioeconomic Pathways (SSPs) and Representative Concentration Pathways (RCPs)...
November 16, 2020: Science of the Total Environment
#39
JOURNAL ARTICLE
Adriana Yamaguchi, Livia Stanger, Cody J Freedman, Melissa Standley, Timothy Hoang, Reheman Adili, Wan-Chen Tsai, Christopher van Hoorebeke, Theodore R Holman, Michael Holinstat
BACKGROUND: The effects of the docosahexaenoic acid (DHA) on cardiovascular disease are controversial and a mechanistic understanding of how this ω-3 polyunsaturated fatty (ω-3 PUFA) regulates platelet reactivity and the subsequent risk of a thrombotic event is warranted. In platelets, DHA is oxidized by 12-lipoxygenase (12-LOX) producing the oxidized lipids (oxylipins) 11-HDHA and 14-HDHA. We hypothesized that 12-LOX DHA-oxylipins may be involved in the beneficial effects observed in dietary supplemental treatment with ω-3 PUFAs or DHA itself...
November 21, 2020: Journal of Thrombosis and Haemostasis: JTH
#40
JOURNAL ARTICLE
Blair N Holman, Robert J Van Gulick, Carol M Amato, Morgan L MacBeth, Kurtis D Davies, Dara L Aisner, William A Robinson, Kasey L Couts
Subungual melanomas (SUM) arise beneath the nails of the hands and feet, and account for 0.7-3.5% of all malignant melanomas. Most studies include SUM in the category of acral melanoma, but understanding the specific features of SUM is critical for improving patient care. In this study, we performed a site-specific comparison of the clinical and molecular features between 54 cases of SUM and 78 cases of nonsubungual acral melanoma. Compared to patients with acral melanoma, patients with SUM were younger at diagnosis, had a higher prevalence of primary melanomas on the hand, and had more frequent reports of previous trauma at the tumor site...
December 2020: Melanoma Research
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