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James buxbaum

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https://www.readbyqxmd.com/read/29221444/genome-wide-association-study-of-coronary-artery-calcified-atherosclerotic-plaque-in-african-americans-with-type-2-diabetes
#1
Jasmin Divers, Nicholette D Palmer, Carl D Langefeld, W Mark Brown, Lingyi Lu, Pamela J Hicks, S Carrie Smith, Jianzhao Xu, James G Terry, Thomas C Register, Lynne E Wagenknecht, John S Parks, Lijun Ma, Gary C Chan, Sarah G Buxbaum, Adolfo Correa, Solomon Musani, James G Wilson, Herman A Taylor, Donald W Bowden, John Jeffrey Carr, Barry I Freedman
BACKGROUND: Coronary artery calcified atherosclerotic plaque (CAC) predicts cardiovascular disease (CVD). Despite exposure to more severe conventional CVD risk factors, African Americans (AAs) are less likely to develop CAC, and when they do, have markedly lower levels than European Americans. Genetic factors likely contribute to the observed ethnic differences. To identify genes associated with CAC in AAs with type 2 diabetes (T2D), a genome-wide association study (GWAS) was performed using the Illumina 5 M chip in 691 African American-Diabetes Heart Study participants (AA-DHS), with replication in 205 Jackson Heart Study (JHS) participants with T2D...
December 8, 2017: BMC Genetics
https://www.readbyqxmd.com/read/29221432/sex-and-ethnic-racial-specific-risk-factors-for-gallbladder-disease
#2
Jane C Figueiredo, Christopher Haiman, Jacqueline Porcel, James Buxbaum, Daniel Stram, Neal Tambe, Wendy Cozen, Lynne Wilkens, Loic Le Marchand, Veronica Wendy Setiawan
BACKGROUND: Gallbladder disease (GBD) is a highly prevalent condition; however, little is known about potential differences in risk factors by sex and ethnicity/race. Our aim was to evaluate dietary, reproductive and obesity-related factors and GBD in multiethnic populations. METHODS: We performed a prospective analysis from the Multiethnic Cohort study who self-identified as non-Hispanic White (n = 32,103), African American (n = 30,209), Japanese (n = 35,987), Native Hawaiian (n = 6942) and Latino (n = 39,168)...
December 8, 2017: BMC Gastroenterology
https://www.readbyqxmd.com/read/29074446/efficacy-and-safety-of-digital-single-operator-cholangioscopy-for-difficult-biliary-stones
#3
Olaya I Brewer Gutierrez, Noor L H Bekkali, Isaac Raijman, Richard Sturgess, Divyesh V Sejpal, Hanaa D Aridi, Stuart Sherman, Raj J Shah, Richard S Kwon, James L Buxbaum, Claudio Zulli, Wahid Wassef, Douglas G Adler, Vladimir Kushnir, Andrew Y Wang, Kumar Krishnan, Vivek Kaul, Demetrios Tzimas, Christopher J DiMaio, Sammy Ho, Bret Petersen, Jong Ho Moon, B Joseph Elmunzer, George J M Webster, Yen-I Chen, Laura K Dwyer, Summant Inamdar, Vanessa B Patrick, Augustin Attwell, Amy Hosmer, Christopher Ko, Attilio Maurano, Avik Sarkar, Linda J Taylor, Martin H Gregory, Daniel S Strand, Ali Raza, Shivangi Kothari, Jessica P Harris, Nikhil A Kumta, Amar Manvar, Mark D Topazian, Yun Nah Lee, Clayton M Spiceland, Majidah A Bukhari, Omid Sanaei, Saowanee Ngamruengphong, Mouen A Khashab
BACKGROUND & AIMS: It is not clear whether digital single-operator cholangioscopy (D-SOC) with electrohydraulic and laser lithotripsy is effective in removal of difficult biliary stones. We investigated the safety and efficacy of D-SOC with electrohydraulic and laser lithotripsy in an international, multicenter study of patients with difficult biliary stones. METHODS: We performed a retrospective analysis of 407 patients (60.4% female; mean age, 64.2 years) who underwent D-SOC for difficult biliary stones at 22 tertiary centers in the United States, United Kingdom, or Korea from February 2015 through December 2016; 306 patients underwent electrohydraulic lithotripsy and 101 (24...
October 24, 2017: Clinical Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28978960/response-to-de-madaria-et-al
#4
James Buxbaum, Andrew Lin
No abstract text is available yet for this article.
October 2017: American Journal of Gastroenterology
https://www.readbyqxmd.com/read/28954314/internet-based-e-learning-systems-a-tool-for-the-future-in-endoscopy
#5
Pedro Pimentel-Nunes, James Buxbaum
No abstract text is available yet for this article.
October 2017: Endoscopy
https://www.readbyqxmd.com/read/28874861/response-to-thompson
#6
James Buxbaum, Christopher Ko
No abstract text is available yet for this article.
September 2017: American Journal of Gastroenterology
https://www.readbyqxmd.com/read/28866457/randomized-trial-of-cholangioscopy-guided-laser-lithotripsy%C3%A2-versus-conventional-therapy-for-large-bile-duct%C3%A2-stones-with-videos
#7
James Buxbaum, Ara Sahakian, Christopher Ko, Preeth Jayaram, Christianne Lane, Chung Yao Yu, Ravi Kankotia, Loren Laine
BACKGROUND AND AIMS: Bile duct stones >1 cm have a decreased incidence of successful endoscopic extraction and often require lithotripsy. Although previous guidelines suggested mechanical lithotripsy for large common bile duct stones, current guidelines suggest cholangioscopy-guided lithotripsy as an adjunct with or without balloon dilation or mechanical lithotripsy. However, no randomized trials have assessed the usefulness of this practice. METHODS: Patients with bile duct stones >1 cm in diameter were randomized in a 2:1 ratio to cholangioscopy-guided laser lithotripsy versus conventional therapy only...
September 1, 2017: Gastrointestinal Endoscopy
https://www.readbyqxmd.com/read/28843585/metallic-coil-and-n-butyl-2-cyanoacrylate-for-closure-of-pancreatic-duct-leak-with-video
#8
Ara B Sahakian, Preeth Jayaram, M Victoria Marx, Kazuhide Matsushima, Caroline Park, James L Buxbaum
BACKGROUND AND AIMS: Pancreatic fistula is a challenging yet common adverse event of partial pancreatectomy. Our objective is to determine the feasibility of endoscopic closure of a pancreatic fistula using a combination of a metallic coil and N-butyl-2-cyanoacrylate (NBCA) glue. METHODS: A patient with a postoperative pancreatic stump leak recalcitrant to conservative management and pancreatic duct stenting underwent endoscopic/fluoroscopic placement of a metallic coil in the pancreatic duct followed by injection of 0...
August 23, 2017: Gastrointestinal Endoscopy
https://www.readbyqxmd.com/read/28842167/direct-visualization-of-igg4-related-cholangiopathy
#9
Chung Yao Yu, Suraj Patel, James Buxbaum
No abstract text is available yet for this article.
August 24, 2017: Gastrointestinal Endoscopy
https://www.readbyqxmd.com/read/28714976/rare-coding-variants-in-plcg2-abi3-and-trem2-implicate-microglial-mediated-innate-immunity-in-alzheimer-s-disease
#10
Rebecca Sims, Sven J van der Lee, Adam C Naj, Céline Bellenguez, Nandini Badarinarayan, Johanna Jakobsdottir, Brian W Kunkle, Anne Boland, Rachel Raybould, Joshua C Bis, Eden R Martin, Benjamin Grenier-Boley, Stefanie Heilmann-Heimbach, Vincent Chouraki, Amanda B Kuzma, Kristel Sleegers, Maria Vronskaya, Agustin Ruiz, Robert R Graham, Robert Olaso, Per Hoffmann, Megan L Grove, Badri N Vardarajan, Mikko Hiltunen, Markus M Nöthen, Charles C White, Kara L Hamilton-Nelson, Jacques Epelbaum, Wolfgang Maier, Seung-Hoan Choi, Gary W Beecham, Cécile Dulary, Stefan Herms, Albert V Smith, Cory C Funk, Céline Derbois, Andreas J Forstner, Shahzad Ahmad, Hongdong Li, Delphine Bacq, Denise Harold, Claudia L Satizabal, Otto Valladares, Alessio Squassina, Rhodri Thomas, Jennifer A Brody, Liming Qu, Pascual Sánchez-Juan, Taniesha Morgan, Frank J Wolters, Yi Zhao, Florentino Sanchez Garcia, Nicola Denning, Myriam Fornage, John Malamon, Maria Candida Deniz Naranjo, Elisa Majounie, Thomas H Mosley, Beth Dombroski, David Wallon, Michelle K Lupton, Josée Dupuis, Patrice Whitehead, Laura Fratiglioni, Christopher Medway, Xueqiu Jian, Shubhabrata Mukherjee, Lina Keller, Kristelle Brown, Honghuang Lin, Laura B Cantwell, Francesco Panza, Bernadette McGuinness, Sonia Moreno-Grau, Jeremy D Burgess, Vincenzo Solfrizzi, Petra Proitsi, Hieab H Adams, Mariet Allen, Davide Seripa, Pau Pastor, L Adrienne Cupples, Nathan D Price, Didier Hannequin, Ana Frank-García, Daniel Levy, Paramita Chakrabarty, Paolo Caffarra, Ina Giegling, Alexa S Beiser, Vilmantas Giedraitis, Harald Hampel, Melissa E Garcia, Xue Wang, Lars Lannfelt, Patrizia Mecocci, Gudny Eiriksdottir, Paul K Crane, Florence Pasquier, Virginia Boccardi, Isabel Henández, Robert C Barber, Martin Scherer, Lluis Tarraga, Perrie M Adams, Markus Leber, Yuning Chen, Marilyn S Albert, Steffi Riedel-Heller, Valur Emilsson, Duane Beekly, Anne Braae, Reinhold Schmidt, Deborah Blacker, Carlo Masullo, Helena Schmidt, Rachelle S Doody, Gianfranco Spalletta, W T Longstreth Jr, Thomas J Fairchild, Paola Bossù, Oscar L Lopez, Matthew P Frosch, Eleonora Sacchinelli, Bernardino Ghetti, Qiong Yang, Ryan M Huebinger, Frank Jessen, Shuo Li, M Ilyas Kamboh, John Morris, Oscar Sotolongo-Grau, Mindy J Katz, Chris Corcoran, Melanie Dunstan, Amy Braddel, Charlene Thomas, Alun Meggy, Rachel Marshall, Amy Gerrish, Jade Chapman, Miquel Aguilar, Sarah Taylor, Matt Hill, Mònica Díez Fairén, Angela Hodges, Bruno Vellas, Hilkka Soininen, Iwona Kloszewska, Makrina Daniilidou, James Uphill, Yogen Patel, Joseph T Hughes, Jenny Lord, James Turton, Annette M Hartmann, Roberta Cecchetti, Chiara Fenoglio, Maria Serpente, Marina Arcaro, Carlo Caltagirone, Maria Donata Orfei, Antonio Ciaramella, Sabrina Pichler, Manuel Mayhaus, Wei Gu, Alberto Lleó, Juan Fortea, Rafael Blesa, Imelda S Barber, Keeley Brookes, Chiara Cupidi, Raffaele Giovanni Maletta, David Carrell, Sandro Sorbi, Susanne Moebus, Maria Urbano, Alberto Pilotto, Johannes Kornhuber, Paolo Bosco, Stephen Todd, David Craig, Janet Johnston, Michael Gill, Brian Lawlor, Aoibhinn Lynch, Nick C Fox, John Hardy, Roger L Albin, Liana G Apostolova, Steven E Arnold, Sanjay Asthana, Craig S Atwood, Clinton T Baldwin, Lisa L Barnes, Sandra Barral, Thomas G Beach, James T Becker, Eileen H Bigio, Thomas D Bird, Bradley F Boeve, James D Bowen, Adam Boxer, James R Burke, Jeffrey M Burns, Joseph D Buxbaum, Nigel J Cairns, Chuanhai Cao, Chris S Carlson, Cynthia M Carlsson, Regina M Carney, Minerva M Carrasquillo, Steven L Carroll, Carolina Ceballos Diaz, Helena C Chui, David G Clark, David H Cribbs, Elizabeth A Crocco, Charles DeCarli, Malcolm Dick, Ranjan Duara, Denis A Evans, Kelley M Faber, Kenneth B Fallon, David W Fardo, Martin R Farlow, Steven Ferris, Tatiana M Foroud, Douglas R Galasko, Marla Gearing, Daniel H Geschwind, John R Gilbert, Neill R Graff-Radford, Robert C Green, John H Growdon, Ronald L Hamilton, Lindy E Harrell, Lawrence S Honig, Matthew J Huentelman, Christine M Hulette, Bradley T Hyman, Gail P Jarvik, Erin Abner, Lee-Way Jin, Gyungah Jun, Anna Karydas, Jeffrey A Kaye, Ronald Kim, Neil W Kowall, Joel H Kramer, Frank M LaFerla, James J Lah, James B Leverenz, Allan I Levey, Ge Li, Andrew P Lieberman, Kathryn L Lunetta, Constantine G Lyketsos, Daniel C Marson, Frank Martiniuk, Deborah C Mash, Eliezer Masliah, Wayne C McCormick, Susan M McCurry, Andrew N McDavid, Ann C McKee, Marsel Mesulam, Bruce L Miller, Carol A Miller, Joshua W Miller, John C Morris, Jill R Murrell, Amanda J Myers, Sid O'Bryant, John M Olichney, Vernon S Pankratz, Joseph E Parisi, Henry L Paulson, William Perry, Elaine Peskind, Aimee Pierce, Wayne W Poon, Huntington Potter, Joseph F Quinn, Ashok Raj, Murray Raskind, Barry Reisberg, Christiane Reitz, John M Ringman, Erik D Roberson, Ekaterina Rogaeva, Howard J Rosen, Roger N Rosenberg, Mark A Sager, Andrew J Saykin, Julie A Schneider, Lon S Schneider, William W Seeley, Amanda G Smith, Joshua A Sonnen, Salvatore Spina, Robert A Stern, Russell H Swerdlow, Rudolph E Tanzi, Tricia A Thornton-Wells, John Q Trojanowski, Juan C Troncoso, Vivianna M Van Deerlin, Linda J Van Eldik, Harry V Vinters, Jean Paul Vonsattel, Sandra Weintraub, Kathleen A Welsh-Bohmer, Kirk C Wilhelmsen, Jennifer Williamson, Thomas S Wingo, Randall L Woltjer, Clinton B Wright, Chang-En Yu, Lei Yu, Fabienne Garzia, Feroze Golamaully, Gislain Septier, Sebastien Engelborghs, Rik Vandenberghe, Peter P De Deyn, Carmen Muñoz Fernadez, Yoland Aladro Benito, Hakan Thonberg, Charlotte Forsell, Lena Lilius, Anne Kinhult-Stählbom, Lena Kilander, RoseMarie Brundin, Letizia Concari, Seppo Helisalmi, Anne Maria Koivisto, Annakaisa Haapasalo, Vincent Dermecourt, Nathalie Fievet, Olivier Hanon, Carole Dufouil, Alexis Brice, Karen Ritchie, Bruno Dubois, Jayanadra J Himali, C Dirk Keene, JoAnn Tschanz, Annette L Fitzpatrick, Walter A Kukull, Maria Norton, Thor Aspelund, Eric B Larson, Ron Munger, Jerome I Rotter, Richard B Lipton, María J Bullido, Albert Hofman, Thomas J Montine, Eliecer Coto, Eric Boerwinkle, Ronald C Petersen, Victoria Alvarez, Fernando Rivadeneira, Eric M Reiman, Maura Gallo, Christopher J O'Donnell, Joan S Reisch, Amalia Cecilia Bruni, Donald R Royall, Martin Dichgans, Mary Sano, Daniela Galimberti, Peter St George-Hyslop, Elio Scarpini, Debby W Tsuang, Michelangelo Mancuso, Ubaldo Bonuccelli, Ashley R Winslow, Antonio Daniele, Chuang-Kuo Wu, Oliver Peters, Benedetta Nacmias, Matthias Riemenschneider, Reinhard Heun, Carol Brayne, David C Rubinsztein, Jose Bras, Rita Guerreiro, Ammar Al-Chalabi, Christopher E Shaw, John Collinge, David Mann, Magda Tsolaki, Jordi Clarimón, Rebecca Sussams, Simon Lovestone, Michael C O'Donovan, Michael J Owen, Timothy W Behrens, Simon Mead, Alison M Goate, Andre G Uitterlinden, Clive Holmes, Carlos Cruchaga, Martin Ingelsson, David A Bennett, John Powell, Todd E Golde, Caroline Graff, Philip L De Jager, Kevin Morgan, Nilufer Ertekin-Taner, Onofre Combarros, Bruce M Psaty, Peter Passmore, Steven G Younkin, Claudine Berr, Vilmundur Gudnason, Dan Rujescu, Dennis W Dickson, Jean-François Dartigues, Anita L DeStefano, Sara Ortega-Cubero, Hakon Hakonarson, Dominique Campion, Merce Boada, John Keoni Kauwe, Lindsay A Farrer, Christine Van Broeckhoven, M Arfan Ikram, Lesley Jones, Jonathan L Haines, Christophe Tzourio, Lenore J Launer, Valentina Escott-Price, Richard Mayeux, Jean-François Deleuze, Najaf Amin, Peter A Holmans, Margaret A Pericak-Vance, Philippe Amouyel, Cornelia M van Duijn, Alfredo Ramirez, Li-San Wang, Jean-Charles Lambert, Sudha Seshadri, Julie Williams, Gerard D Schellenberg
We identified rare coding variants associated with Alzheimer's disease in a three-stage case-control study of 85,133 subjects. In stage 1, we genotyped 34,174 samples using a whole-exome microarray. In stage 2, we tested associated variants (P < 1 × 10(-4)) in 35,962 independent samples using de novo genotyping and imputed genotypes. In stage 3, we used an additional 14,997 samples to test the most significant stage 2 associations (P < 5 × 10(-8)) using imputed genotypes. We observed three new genome-wide significant nonsynonymous variants associated with Alzheimer's disease: a protective variant in PLCG2 (rs72824905: p...
September 2017: Nature Genetics
https://www.readbyqxmd.com/read/28462914/dynamic-measurement-of-disease-activity-in-acute-pancreatitis-the-pancreatitis-activity-scoring-system
#11
Bechien U Wu, Michael Batech, Michael Quezada, Daniel Lew, Kelly Fujikawa, Jonathan Kung, Laith H Jamil, Wansu Chen, Elham Afghani, Sonya Reicher, James Buxbaum, Stephen J Pandol
OBJECTIVES: Acute pancreatitis has a highly variable course. Currently there is no widely accepted method to measure disease activity in patients hospitalized for acute pancreatitis. We aimed to develop a clinical activity index that incorporates routine clinical parameters to assist in the measurement, study, and management of acute pancreatitis. METHODS: We used the UCLA/RAND appropriateness method to identify items for inclusion in the disease activity instrument...
July 2017: American Journal of Gastroenterology
https://www.readbyqxmd.com/read/28381840/response-to-alameel-and-bseiso
#12
Nitzan Roth, Preeth Jayaram, James Buxbaum
No abstract text is available yet for this article.
April 2017: American Journal of Gastroenterology
https://www.readbyqxmd.com/read/28366441/narrow-band-imaging-versus-white-light-versus-mapping-biopsy-for-gastric-intestinal-metaplasia-a-prospective-blinded-trial
#13
James L Buxbaum, David Hormozdi, Mario Dinis-Ribeiro, Christianne Lane, Diogo Dias-Silva, Ara Sahakian, Preeth Jayaram, Pedro Pimentel-Nunes, Daniel Shue, Michael Pepper, Daniel Cho, Loren Laine
BACKGROUND AND AIMS: Gastric intestinal metaplasia (GIM) is a gastric cancer precursor. Narrow-band imaging (NBI) may improve detection of GIM. We compared detection of GIM with high-definition white-light (HD-WL) endoscopy, NBI, and mapping biopsies in a population with increased gastric cancer risk. METHODS: Patients undergoing upper endoscopy had HD-WL examination by 1 endoscopist, followed by an NBI examination by a second endoscopist blinded to HD-WL findings...
March 30, 2017: Gastrointestinal Endoscopy
https://www.readbyqxmd.com/read/28300688/duodenal-gastrinoma-discovered-on-evaluation-for-incidental-gastric-carcinoid
#14
Preeth Jayaram, Alex Shindel, James Buxbaum
No abstract text is available yet for this article.
March 11, 2017: Clinical Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28266591/early-aggressive-hydration-hastens-clinical-improvement-in-mild-acute-pancreatitis
#15
RANDOMIZED CONTROLLED TRIAL
James L Buxbaum, Michael Quezada, Ben Da, Niraj Jani, Christianne Lane, Didi Mwengela, Thomas Kelly, Paul Jhun, Kiran Dhanireddy, Loren Laine
OBJECTIVES: Early aggressive intravenous hydration is recommended for acute pancreatitis treatment although randomized trials have not documented benefit. We performed a randomized trial of aggressive vs. standard hydration in the initial management of mild acute pancreatitis. METHODS: Sixty patients with acute pancreatitis without systemic inflammatory response syndrome (SIRS) or organ failure were randomized within 4 h of diagnosis to aggressive (20 ml/kg bolus followed by 3 ml/kg/h) vs...
May 2017: American Journal of Gastroenterology
https://www.readbyqxmd.com/read/27875357/optimal-timing-of-endoscopic-retrograde-cholangiopancreatography-in-acute-cholangitis
#16
Linda A Hou, Loren Laine, Nima Motamedi, Ara Sahakian, Christianne Lane, James Buxbaum
OBJECTIVES: Acute cholangitis mandates resuscitation, antibiotic therapy, and biliary decompression. Our aim was to define the optimal timing of endoscopic retrograde cholangiopancreatography (ERCP) for patients with acute cholangitis. METHODS: Clinical data on all cases of cholangitis managed by ERCP were prospectively collected from September 2010 to July 2013. The clinical impact of the time to ERCP, defined as the time from presentation in the emergency department to the commencement of the ERCP, was determined...
July 2017: Journal of Clinical Gastroenterology
https://www.readbyqxmd.com/read/27716799/rapid-and-objective-assessment-of-neural-function-in-autism-spectrum-disorder-using-transient-visual-evoked-potentials
#17
Paige M Siper, Vance Zemon, James Gordon, Julia George-Jones, Stacey Lurie, Jessica Zweifach, Teresa Tavassoli, A Ting Wang, Jesslyn Jamison, Joseph D Buxbaum, Alexander Kolevzon
OBJECTIVE: There is a critical need to identify biomarkers and objective outcome measures that can be used to understand underlying neural mechanisms in autism spectrum disorder (ASD). Visual evoked potentials (VEPs) offer a noninvasive technique to evaluate the functional integrity of neural mechanisms, specifically visual pathways, while probing for disease pathophysiology. METHODS: Transient VEPs (tVEPs) were obtained from 96 unmedicated children, including 37 children with ASD, 36 typically developing (TD) children, and 23 unaffected siblings (SIBS)...
2016: PloS One
https://www.readbyqxmd.com/read/27585469/complicated-gallstone-disease-diagnosis-and-management-of-mirizzi-syndrome
#18
Sujit S Kulkarni, Mayo Hotta, Linda Sher, Robert R Selby, Dilipkumar Parekh, James Buxbaum, Maria Stapfer
BACKGROUND: Mirizzi syndrome (MS) is characterized by an obstruction of the proximal bile duct due to extrinsic compression by either an impacted stone in the gallbladder neck or local inflammatory changes. Although this is a rare syndrome in developed countries (0.7-1.4 %), preoperative diagnosis and careful surgical management are essential to avoid bilio-vascular injuries and misdiagnosed malignancy. METHODS: The purpose of this study was to review our experience in the diagnosis and management of MS, assess the role of laparoscopy and the risk of concomitant gallbladder carcinoma...
May 2017: Surgical Endoscopy
https://www.readbyqxmd.com/read/27577874/fine-mapping-novel-loci-identification-and-snp-association-transferability-in-a-genome-wide-association-study-of-qrs-duration-in-african-americans
#19
Daniel S Evans, Christy L Avery, Mike A Nalls, Guo Li, John Barnard, Erin N Smith, Toshiko Tanaka, Anne M Butler, Sarah G Buxbaum, Alvaro Alonso, Dan E Arking, Gerald S Berenson, Joshua C Bis, Steven Buyske, Cara L Carty, Wei Chen, Mina K Chung, Steven R Cummings, Rajat Deo, Charles B Eaton, Ervin R Fox, Susan R Heckbert, Gerardo Heiss, Lucia A Hindorff, Wen-Chi Hsueh, Aaron Isaacs, Yalda Jamshidi, Kathleen F Kerr, Felix Liu, Yongmei Liu, Kurt K Lohman, Jared W Magnani, Joseph F Maher, Reena Mehra, Yan A Meng, Solomon K Musani, Christopher Newton-Cheh, Kari E North, Bruce M Psaty, Susan Redline, Jerome I Rotter, Renate B Schnabel, Nicholas J Schork, Ralph V Shohet, Andrew B Singleton, Jonathan D Smith, Elsayed Z Soliman, Sathanur R Srinivasan, Herman A Taylor, David R Van Wagoner, James G Wilson, Taylor Young, Zhu-Ming Zhang, Alan B Zonderman, Michele K Evans, Luigi Ferrucci, Sarah S Murray, Gregory J Tranah, Eric A Whitsel, Alex P Reiner, Nona Sotoodehnia
The electrocardiographic QRS duration, a measure of ventricular depolarization and conduction, is associated with cardiovascular mortality. While single nucleotide polymorphisms (SNPs) associated with QRS duration have been identified at 22 loci in populations of European descent, the genetic architecture of QRS duration in non-European populations is largely unknown. We therefore performed a genome-wide association study (GWAS) meta-analysis of QRS duration in 13,031 African Americans from ten cohorts and a transethnic GWAS meta-analysis with additional results from populations of European descent...
October 1, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27516385/the-human-specific-casp4-gene-product-contributes-to-alzheimer-related-synaptic-and-behavioural-deficits
#20
Yuji Kajiwara, Andrew McKenzie, Nate Dorr, Miguel A Gama Sosa, Gregory Elder, James Schmeidler, Dara L Dickstein, Ozlem Bozdagi, Bin Zhang, Joseph D Buxbaum
Recent studies have indicated that innate immune signalling molecules are involved in late-onset Alzheimer's disease (LOAD) risk. Amyloid beta (Aβ) accumulates in AD brain, and has been proposed to act as a trigger of innate immune responses. Caspase-4 is an important part of the innate immune response. We recently characterized transgenic mice carrying human CASP4, and observed that the mice manifested profound innate immune responses to lipopolysaccharide (LPS). Since these inflammatory processes are important in the aetiology of AD, we have now analysed the correlation of expression of caspase-4 in human brain with AD risk genes, and studied caspase-4 effects on AD-related phenotypes in APPswe/PS1deltaE9 (APP/PS1) mice...
October 1, 2016: Human Molecular Genetics
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