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McCarroll, S A

Pei Y Liu, Nicholas Sokolowski, Su T Guo, Faraz Siddiqi, Bernard Atmadibrata, Thomas J Telfer, Yuting Sun, Lihong Zhang, Denise Yu, Joshua Mccarroll, Bing Liu, Rui H Yang, Xiang Y Guo, Andrew E Tee, Ken Itoh, Jenny Wang, Maria Kavallaris, Michelle Haber, Murray D Norris, Belamy B Cheung, Jennifer A Byrne, David S Ziegler, Glenn M Marshall, Marcel E Dinger, Rachel Codd, Xu D Zhang, Tao Liu
BET bromodomain inhibitors are very promising novel anticancer agents, however, single therapy does not cause tumor regression in mice, suggesting the need for combination therapy. After screening a library of 2697 small molecule compounds, we found that two classes of compounds, the quinone-containing compounds such as nanaomycin and anti-microtubule drugs such as vincristine, exerted the best synergistic anticancer effects with the BET bromodomain inhibitor JQ1 in neuroblastoma cells. Mechanistically, the quinone-containing compound nanaomycin induced neuroblastoma cell death but also activated the Nrf2-antioxidant signaling pathway, and the BET bromodomain proteins BRD3 and BRD4 formed a protein complex with Nrf2...
October 13, 2016: Oncotarget
Shane McCarthy, Sayantan Das, Warren Kretzschmar, Olivier Delaneau, Andrew R Wood, Alexander Teumer, Hyun Min Kang, Christian Fuchsberger, Petr Danecek, Kevin Sharp, Yang Luo, Carlo Sidore, Alan Kwong, Nicholas Timpson, Seppo Koskinen, Scott Vrieze, Laura J Scott, He Zhang, Anubha Mahajan, Jan Veldink, Ulrike Peters, Carlos Pato, Cornelia M van Duijn, Christopher E Gillies, Ilaria Gandin, Massimo Mezzavilla, Arthur Gilly, Massimiliano Cocca, Michela Traglia, Andrea Angius, Jeffrey C Barrett, Dorrett Boomsma, Kari Branham, Gerome Breen, Chad M Brummett, Fabio Busonero, Harry Campbell, Andrew Chan, Sai Chen, Emily Chew, Francis S Collins, Laura J Corbin, George Davey Smith, George Dedoussis, Marcus Dorr, Aliki-Eleni Farmaki, Luigi Ferrucci, Lukas Forer, Ross M Fraser, Stacey Gabriel, Shawn Levy, Leif Groop, Tabitha Harrison, Andrew Hattersley, Oddgeir L Holmen, Kristian Hveem, Matthias Kretzler, James C Lee, Matt McGue, Thomas Meitinger, David Melzer, Josine L Min, Karen L Mohlke, John B Vincent, Matthias Nauck, Deborah Nickerson, Aarno Palotie, Michele Pato, Nicola Pirastu, Melvin McInnis, J Brent Richards, Cinzia Sala, Veikko Salomaa, David Schlessinger, Sebastian Schoenherr, P Eline Slagboom, Kerrin Small, Timothy Spector, Dwight Stambolian, Marcus Tuke, Jaakko Tuomilehto, Leonard H Van den Berg, Wouter Van Rheenen, Uwe Volker, Cisca Wijmenga, Daniela Toniolo, Eleftheria Zeggini, Paolo Gasparini, Matthew G Sampson, James F Wilson, Timothy Frayling, Paul I W de Bakker, Morris A Swertz, Steven McCarroll, Charles Kooperberg, Annelot Dekker, David Altshuler, Cristen Willer, William Iacono, Samuli Ripatti, Nicole Soranzo, Klaudia Walter, Anand Swaroop, Francesco Cucca, Carl A Anderson, Richard M Myers, Michael Boehnke, Mark I McCarthy, Richard Durbin
We describe a reference panel of 64,976 human haplotypes at 39,235,157 SNPs constructed using whole-genome sequence data from 20 studies of predominantly European ancestry. Using this resource leads to accurate genotype imputation at minor allele frequencies as low as 0.1% and a large increase in the number of SNPs tested in association studies, and it can help to discover and refine causal loci. We describe remote server resources that allow researchers to carry out imputation and phasing consistently and efficiently...
October 2016: Nature Genetics
Monkol Lek, Konrad J Karczewski, Eric V Minikel, Kaitlin E Samocha, Eric Banks, Timothy Fennell, Anne H O'Donnell-Luria, James S Ware, Andrew J Hill, Beryl B Cummings, Taru Tukiainen, Daniel P Birnbaum, Jack A Kosmicki, Laramie E Duncan, Karol Estrada, Fengmei Zhao, James Zou, Emma Pierce-Hoffman, Joanne Berghout, David N Cooper, Nicole Deflaux, Mark DePristo, Ron Do, Jason Flannick, Menachem Fromer, Laura Gauthier, Jackie Goldstein, Namrata Gupta, Daniel Howrigan, Adam Kiezun, Mitja I Kurki, Ami Levy Moonshine, Pradeep Natarajan, Lorena Orozco, Gina M Peloso, Ryan Poplin, Manuel A Rivas, Valentin Ruano-Rubio, Samuel A Rose, Douglas M Ruderfer, Khalid Shakir, Peter D Stenson, Christine Stevens, Brett P Thomas, Grace Tiao, Maria T Tusie-Luna, Ben Weisburd, Hong-Hee Won, Dongmei Yu, David M Altshuler, Diego Ardissino, Michael Boehnke, John Danesh, Stacey Donnelly, Roberto Elosua, Jose C Florez, Stacey B Gabriel, Gad Getz, Stephen J Glatt, Christina M Hultman, Sekar Kathiresan, Markku Laakso, Steven McCarroll, Mark I McCarthy, Dermot McGovern, Ruth McPherson, Benjamin M Neale, Aarno Palotie, Shaun M Purcell, Danish Saleheen, Jeremiah M Scharf, Pamela Sklar, Patrick F Sullivan, Jaakko Tuomilehto, Ming T Tsuang, Hugh C Watkins, James G Wilson, Mark J Daly, Daniel G MacArthur
Large-scale reference data sets of human genetic variation are critical for the medical and functional interpretation of DNA sequence changes. Here we describe the aggregation and analysis of high-quality exome (protein-coding region) DNA sequence data for 60,706 individuals of diverse ancestries generated as part of the Exome Aggregation Consortium (ExAC). This catalogue of human genetic diversity contains an average of one variant every eight bases of the exome, and provides direct evidence for the presence of widespread mutational recurrence...
August 17, 2016: Nature
Paul D Ross, Jacky Guy, Jim Selfridge, Bushra Kamal, Noha Bahey, K Elizabeth Tanner, Thomas H Gillingwater, Ross A Jones, Christopher M Loughrey, Charlotte S McCarroll, Mark E S Bailey, Adrian Bird, Stuart Cobb
Rett syndrome (RTT) is a severe genetic disorder resulting from mutations in the X-linked MECP2 gene. MeCP2 protein is highly expressed in the nervous system and deficiency in the mouse central nervous system alone recapitulates many features of the disorder. This suggests that RTT is primarily a neurological disorder, although the protein is reportedly widely expressed throughout the body. To determine whether aspects of the RTT phenotype that originate in non-neuronal tissues might have been overlooked, we generated mice in which Mecp2 remains at near normal levels in the nervous system, but is severely depleted elsewhere...
August 9, 2016: Human Molecular Genetics
S E Legge, M L Hamshere, S Ripke, A F Pardinas, J I Goldstein, E Rees, A L Richards, G Leonenko, L F Jorskog, K D Chambert, D A Collier, G Genovese, I Giegling, P Holmans, A Jonasdottir, G Kirov, S A McCarroll, J H MacCabe, K Mantripragada, J L Moran, B M Neale, H Stefansson, D Rujescu, M J Daly, P F Sullivan, M J Owen, M C O'Donovan, J T R Walters
No abstract text is available yet for this article.
August 9, 2016: Molecular Psychiatry
M J Kim, J Biag, D M Fass, M C Lewis, Q Zhang, M Fleishman, S P Gangwar, M Machius, M Fromer, S M Purcell, S A McCarroll, G Rudenko, R T Premont, E M Scolnick, S J Haggarty
Although the pathogenesis of schizophrenia (SCZ) is proposed to involve alterations of neural circuits via synaptic dysfunction, the underlying molecular mechanisms remain poorly understood. Recent exome sequencing studies of SCZ have uncovered numerous single-nucleotide variants (SNVs); however, the majority of these SNVs have unknown functional consequences, leaving their disease relevance uncertain. Filling this knowledge gap requires systematic application of quantitative and scalable assays to assess known and novel biological functions of genes...
July 26, 2016: Molecular Psychiatry
Jessica D Todd, Catherine S McCarroll, Anita M Nucci
OBJECTIVE: This study examined the effect of high-fidelity patient simulation (HPS) on dietetics students' self-efficacy before supervised clinical practice. METHODS: This repeated-measures study was conducted during the 2012-2013 academic year. All students in a masters coordinated program cohort (n = 19) participated in an interprofessional HPS experience before clinical supervised practice. The students completed a 4-point self-efficacy scale in which 0 = not at all confident and 3 = fully confident, at 3 time points: before and after the simulation experience and 2 weeks after beginning clinical supervised practice...
September 2016: Journal of Nutrition Education and Behavior
S E Legge, M L Hamshere, S Ripke, A F Pardinas, J I Goldstein, E Rees, A L Richards, G Leonenko, L F Jorskog, K D Chambert, D A Collier, G Genovese, I Giegling, P Holmans, A Jonasdottir, G Kirov, S A McCarroll, J H MacCabe, K Mantripragada, J L Moran, B M Neale, H Stefansson, D Rujescu, M J Daly, P F Sullivan, M J Owen, M C O'Donovan, J T R Walters
The antipsychotic clozapine is uniquely effective in the management of schizophrenia; however, its use is limited by its potential to induce agranulocytosis. The causes of this, and of its precursor neutropenia, are largely unknown, although genetic factors have an important role. We sought risk alleles for clozapine-associated neutropenia in a sample of 66 cases and 5583 clozapine-treated controls, through a genome-wide association study (GWAS), imputed human leukocyte antigen (HLA) alleles, exome array and copy-number variation (CNV) analyses...
July 12, 2016: Molecular Psychiatry
C M Fife, S M Sagnella, W S Teo, S T Po'uha, F L Byrne, Y Y C Yeap, D C H Ng, T P Davis, J A McCarroll, M Kavallaris
Neuroblastoma, the most common solid tumor of young children, frequently presents with aggressive metastatic disease and for these children the 5-year survival rates are dismal. Metastasis, the movement of cancer cells from one site to another, involves remodeling of the cytoskeleton including altered microtubule dynamics. The microtubule-destabilizing protein, stathmin, has recently been shown to mediate neuroblastoma metastasis although precise functions remain poorly defined. In this study we investigated stathmin's contribution to the metastatic process and potential mechanism(s) by which it exerts these effects...
June 20, 2016: Oncogene
Robert J Ursano, Ronald C Kessler, Murray B Stein, James A Naifeh, Pablo A Aliaga, Carol S Fullerton, Gary H Wynn, Patti L Vegella, Tsz Hin Hinz Ng, Bailey G Zhang, Christina L Wryter, Nancy A Sampson, Tzu-Cheg Kao, Lisa J Colpe, Michael Schoenbaum, James E McCarroll, Kenneth L Cox, Steven G Heeringa
IMPORTANCE: Suicide attempts in the US Army have risen in the past decade. Understanding the association between suicide attempts and deployment, as well as method and timing of suicide attempts, can assist in developing interventions. OBJECTIVE: To examine suicide attempt risk factors, methods, and timing among soldiers currently deployed, previously deployed, and never deployed at the time this study was conducted. DESIGN, SETTING, AND PARTICIPANTS: This longitudinal, retrospective cohort study of Regular Army-enlisted soldiers on active duty from 2004 through 2009 used individual-level person-month records to examine risk factors (sociodemographic, service related, and mental health), method, and time of suicide attempt by deployment status (never, currently, and previously deployed)...
July 1, 2016: JAMA Psychiatry
G David Poznik, Yali Xue, Fernando L Mendez, Thomas F Willems, Andrea Massaia, Melissa A Wilson Sayres, Qasim Ayub, Shane A McCarthy, Apurva Narechania, Seva Kashin, Yuan Chen, Ruby Banerjee, Juan L Rodriguez-Flores, Maria Cerezo, Haojing Shao, Melissa Gymrek, Ankit Malhotra, Sandra Louzada, Rob Desalle, Graham R S Ritchie, Eliza Cerveira, Tomas W Fitzgerald, Erik Garrison, Anthony Marcketta, David Mittelman, Mallory Romanovitch, Chengsheng Zhang, Xiangqun Zheng-Bradley, Gonçalo R Abecasis, Steven A McCarroll, Paul Flicek, Peter A Underhill, Lachlan Coin, Daniel R Zerbino, Fengtang Yang, Charles Lee, Laura Clarke, Adam Auton, Yaniv Erlich, Robert E Handsaker, Carlos D Bustamante, Chris Tyler-Smith
We report the sequences of 1,244 human Y chromosomes randomly ascertained from 26 worldwide populations by the 1000 Genomes Project. We discovered more than 65,000 variants, including single-nucleotide variants, multiple-nucleotide variants, insertions and deletions, short tandem repeats, and copy number variants. Of these, copy number variants contribute the greatest predicted functional impact. We constructed a calibrated phylogenetic tree on the basis of binary single-nucleotide variants and projected the more complex variants onto it, estimating the number of mutations for each class...
June 2016: Nature Genetics
Jaya L Padmanabhan, Pranav Nanda, Neeraj Tandon, Suraj S Mothi, Nicolas Bolo, Steven McCarroll, Brett A Clementz, Elliot S Gershon, Godfrey D Pearlson, John A Sweeney, Carol A Tamminga, Matcheri S Keshavan
BACKGROUND: An elevated prevalence of Type 2 diabetes (T2D) has been observed in people with psychotic disorders and their relatives compared to the general population. It is not known whether this population also has increased genetic risk for T2D. METHODS: Subjects included probands with schizophrenia, schizoaffective disorder, or psychotic bipolar I disorder, their first-degree relatives without psychotic disorders, and healthy controls, who participated in the Bipolar Schizophrenia Network for Intermediate Phenotypes study...
June 2016: Journal of Psychiatric Research
Tarjinder Singh, Mitja I Kurki, David Curtis, Shaun M Purcell, Lucy Crooks, Jeremy McRae, Jaana Suvisaari, Himanshu Chheda, Douglas Blackwood, Gerome Breen, Olli Pietiläinen, Sebastian S Gerety, Muhammad Ayub, Moira Blyth, Trevor Cole, David Collier, Eve L Coomber, Nick Craddock, Mark J Daly, John Danesh, Marta DiForti, Alison Foster, Nelson B Freimer, Daniel Geschwind, Mandy Johnstone, Shelagh Joss, Georg Kirov, Jarmo Körkkö, Outi Kuismin, Peter Holmans, Christina M Hultman, Conrad Iyegbe, Jouko Lönnqvist, Minna Männikkö, Steve A McCarroll, Peter McGuffin, Andrew M McIntosh, Andrew McQuillin, Jukka S Moilanen, Carmel Moore, Robin M Murray, Ruth Newbury-Ecob, Willem Ouwehand, Tiina Paunio, Elena Prigmore, Elliott Rees, David Roberts, Jennifer Sambrook, Pamela Sklar, David St Clair, Juha Veijola, James T R Walters, Hywel Williams, Patrick F Sullivan, Matthew E Hurles, Michael C O'Donovan, Aarno Palotie, Michael J Owen, Jeffrey C Barrett
By analyzing the whole-exome sequences of 4,264 schizophrenia cases, 9,343 controls and 1,077 trios, we identified a genome-wide significant association between rare loss-of-function (LoF) variants in SETD1A and risk for schizophrenia (P = 3.3 × 10(-9)). We found only two heterozygous LoF variants in 45,376 exomes from individuals without a neuropsychiatric diagnosis, indicating that SETD1A is substantially depleted of LoF variants in the general population. Seven of the ten individuals with schizophrenia carrying SETD1A LoF variants also had learning difficulties...
April 2016: Nature Neuroscience
K E Tansey, E Rees, D E Linden, S Ripke, K D Chambert, J L Moran, S A McCarroll, P Holmans, G Kirov, J Walters, M J Owen, M C O'Donovan
No abstract text is available yet for this article.
August 2016: Molecular Psychiatry
Stephen J Cozza, Claudio D Ortiz, Carol S Fullerton, James E McCarroll, Allison K Holmes, April M Harris, Christina L Wryter, Robert J Ursano
BACKGROUND: Neglect has been linked to short-term and long-term deleterious outcomes in children, but has received little attention in the research literature. OBJECTIVE: Identify types, subtypes, and severity of child neglect in a sample of substantiated cases at 4 U.S. Army installations. Describe demographic correlates of victims and offenders by type and subtype. PARTICIPANTS: Data were collected from archived clinical records. A stratified random sample of 100 substantiated child neglect case files were selected per site (N = 400)...
November 2015: Military Medicine
M S Moore, M G McCarroll, C D McCann, L May, N Younes, J A Jordan
Here we compared the results of PCR/pyrosequencing to those of culture for detecting bacteria directly from blood. DNA was extracted from 1,130 blood samples from 913 patients suspected of bacteremia (enrollment criteria were physician-ordered blood culture and complete blood count [CBC]), and 102 controls (healthy blood donors). Real-time PCR assays for beta-globin and Universal 16S rRNA gene targets were performed on all 1,232 extracts. Specimens identified by Universal 16S rRNA gene PCR/pyrosequencing as containing staphylococci, streptococci, or enteric Gram-negative rods had target-specific PCR/pyrosequencing performed...
January 2016: Journal of Clinical Microbiology
J Song, S E Bergen, A Di Florio, R Karlsson, A Charney, D M Ruderfer, E A Stahl, K D Chambert, J L Moran, K Gordon-Smith, L Forty, E K Green, I Jones, L Jones, E M Scolnick, P Sklar, J W Smoller, P Lichtenstein, C Hultman, N Craddock, M Landén, Jordan W Smoller, Roy H Perlis, Phil Hyoun Lee, Victor M Castro, Alison G Hoffnagle, Pamela Sklar, Eli A Stahl, Shaun M Purcell, Douglas M Ruderfer, Alexander W Charney, Panos Roussos, Carlos Pato Michele Pato, Helen Medeiros, Janet Sobel, Nick Craddock, Ian Jones, Liz Forty, Arianna Di Florio, Elaine Green, Lisa Jones, Katherine Gordon-Smith, Mikael Landen, Christina Hultman, Anders Jureus, Sarah Bergen, Steven McCarroll, Jennifer Moran, Jordan W Smoller, Kimberly Chambert, Richard A Belliveau
Lithium is the mainstay prophylactic treatment for bipolar disorder (BD), but treatment response varies considerably across individuals. Patients who respond well to lithium treatment might represent a relatively homogeneous subtype of this genetically and phenotypically diverse disorder. Here, we performed genome-wide association studies (GWAS) to identify (i) specific genetic variations influencing lithium response and (ii) genetic variants associated with risk for lithium-responsive BD. Patients with BD and controls were recruited from Sweden and the United Kingdom...
September 2016: Molecular Psychiatry
Andrea S Bauer, Dora A R Storelli, Sarah E Sibbel, H Relton McCarroll, Lisa L Lattanza
BACKGROUND: Posttraumatic and congenital forearm deformities in children can be difficult to appreciate in all planes. In cases of distal radioulnar joint instability and loss of forearm rotation, surgical correction is challenging. Advances in 3-dimensional printing allow creation of custom guides at a reasonable cost, enabling precise correction of the deformity in all planes. METHODS: Nineteen children with deformity of the forearm had corrective osteotomies performed using preoperative 3-dimensional computer modeling and patient-specific surgical guides...
October 21, 2015: Journal of Pediatric Orthopedics
S Hong Lee, Enda M Byrne, Christina M Hultman, Anna Kähler, Anna A E Vinkhuyzen, Stephan Ripke, Ole A Andreassen, Thomas Frisell, Alexander Gusev, Xinli Hu, Robert Karlsson, Vasilis X Mantzioris, John J McGrath, Divya Mehta, Eli A Stahl, Qiongyi Zhao, Kenneth S Kendler, Patrick F Sullivan, Alkes L Price, Michael O'Donovan, Yukinori Okada, Bryan J Mowry, Soumya Raychaudhuri, Naomi R Wray, William Byerley, Wiepke Cahn, Rita M Cantor, Sven Cichon, Paul Cormican, David Curtis, Srdjan Djurovic, Valentina Escott-Price, Pablo V Gejman, Lyudmila Georgieva, Ina Giegling, Thomas F Hansen, Andrés Ingason, Yunjung Kim, Bettina Konte, Phil H Lee, Andrew McIntosh, Andrew McQuillin, Derek W Morris, Markus M Nöthen, Colm O'Dushlaine, Ann Olincy, Line Olsen, Carlos N Pato, Michele T Pato, Benjamin S Pickard, Danielle Posthuma, Henrik B Rasmussen, Marcella Rietschel, Dan Rujescu, Thomas G Schulze, Jeremy M Silverman, Srinivasa Thirumalai, Thomas Werge, Ingrid Agartz, Farooq Amin, Maria H Azevedo, Nicholas Bass, Donald W Black, Douglas H R Blackwood, Richard Bruggeman, Nancy G Buccola, Khalid Choudhury, Robert C Cloninger, Aiden Corvin, Nicholas Craddock, Mark J Daly, Susmita Datta, Gary J Donohoe, Jubao Duan, Frank Dudbridge, Ayman Fanous, Robert Freedman, Nelson B Freimer, Marion Friedl, Michael Gill, Hugh Gurling, Lieuwe De Haan, Marian L Hamshere, Annette M Hartmann, Peter A Holmans, René S Kahn, Matthew C Keller, Elaine Kenny, George K Kirov, Lydia Krabbendam, Robert Krasucki, Jacob Lawrence, Todd Lencz, Douglas F Levinson, Jeffrey A Lieberman, Dan-Yu Lin, Don H Linszen, Patrik K E Magnusson, Wolfgang Maier, Anil K Malhotra, Manuel Mattheisen, Morten Mattingsdal, Steven A McCarroll, Helena Medeiros, Ingrid Melle, Vihra Milanova, Inez Myin-Germeys, Benjamin M Neale, Roel A Ophoff, Michael J Owen, Jonathan Pimm, Shaun M Purcell, Vinay Puri, Digby J Quested, Lizzy Rossin, Douglas Ruderfer, Alan R Sanders, Jianxin Shi, Pamela Sklar, David St Clair, T Scott Stroup, Jim Van Os, Peter M Visscher, Durk Wiersma, Stanley Zammit, S Louis Bridges, Hyon K Choi, Marieke J H Coenen, Niek de Vries, Philippe Dieud, Jeffrey D Greenberg, Tom W J Huizinga, Leonid Padyukov, Katherine A Siminovitch, Paul P Tak, Jane Worthington, Philip L De Jager, Joshua C Denny, Peter K Gregersen, Lars Klareskog, Xavier Mariette, Robert M Plenge, Mart van Laar, Piet van Riel
BACKGROUND: A long-standing epidemiological puzzle is the reduced rate of rheumatoid arthritis (RA) in those with schizophrenia (SZ) and vice versa. Traditional epidemiological approaches to determine if this negative association is underpinned by genetic factors would test for reduced rates of one disorder in relatives of the other, but sufficiently powered data sets are difficult to achieve. The genomics era presents an alternative paradigm for investigating the genetic relationship between two uncommon disorders...
October 2015: International Journal of Epidemiology
Lareina N La Flair, Carol S Fullerton, Stephen J Cozza, Holly B Herberman Mash, James E Mccarroll, Claudio D Ortiz, Robert J Ursano
Understanding features of community strength both on and off the military installation will help identify and address the needs of military families. This study introduced a measure to identify adequacy of community resources for military families. Using confirmatory factor analysis with data from 717 service users (M age = 37.3 yr., SD = 10.6) representing four large U.S. Army installations, two domains of community resource adequacy were identified: resources on the installation and resources off the installation...
August 2015: Psychological Reports
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