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https://www.readbyqxmd.com/read/29566793/genome-wide-analyses-identify-kif5a-as-a-novel-als-gene
#1
Aude Nicolas, Kevin P Kenna, Alan E Renton, Nicola Ticozzi, Faraz Faghri, Ruth Chia, Janice A Dominov, Brendan J Kenna, Mike A Nalls, Pamela Keagle, Alberto M Rivera, Wouter van Rheenen, Natalie A Murphy, Joke J F A van Vugt, Joshua T Geiger, Rick A Van der Spek, Hannah A Pliner, Shankaracharya, Bradley N Smith, Giuseppe Marangi, Simon D Topp, Yevgeniya Abramzon, Athina Soragia Gkazi, John D Eicher, Aoife Kenna, Gabriele Mora, Andrea Calvo, Letizia Mazzini, Nilo Riva, Jessica Mandrioli, Claudia Caponnetto, Stefania Battistini, Paolo Volanti, Vincenzo La Bella, Francesca L Conforti, Giuseppe Borghero, Sonia Messina, Isabella L Simone, Francesca Trojsi, Fabrizio Salvi, Francesco O Logullo, Sandra D'Alfonso, Lucia Corrado, Margherita Capasso, Luigi Ferrucci, Cristiane de Araujo Martins Moreno, Sitharthan Kamalakaran, David B Goldstein, Aaron D Gitler, Tim Harris, Richard M Myers, Hemali Phatnani, Rajeeva Lochan Musunuri, Uday Shankar Evani, Avinash Abhyankar, Michael C Zody, Julia Kaye, Steven Finkbeiner, Stacia K Wyman, Alex LeNail, Leandro Lima, Ernest Fraenkel, Clive N Svendsen, Leslie M Thompson, Jennifer E Van Eyk, James D Berry, Timothy M Miller, Stephen J Kolb, Merit Cudkowicz, Emily Baxi, Michael Benatar, J Paul Taylor, Evadnie Rampersaud, Gang Wu, Joanne Wuu, Giuseppe Lauria, Federico Verde, Isabella Fogh, Cinzia Tiloca, Giacomo P Comi, Gianni Sorarù, Cristina Cereda, Philippe Corcia, Hannu Laaksovirta, Liisa Myllykangas, Lilja Jansson, Miko Valori, John Ealing, Hisham Hamdalla, Sara Rollinson, Stuart Pickering-Brown, Richard W Orrell, Katie C Sidle, Andrea Malaspina, John Hardy, Andrew B Singleton, Janel O Johnson, Sampath Arepalli, Peter C Sapp, Diane McKenna-Yasek, Meraida Polak, Seneshaw Asress, Safa Al-Sarraj, Andrew King, Claire Troakes, Caroline Vance, Jacqueline de Belleroche, Frank Baas, Anneloor L M A Ten Asbroek, José Luis Muñoz-Blanco, Dena G Hernandez, Jinhui Ding, J Raphael Gibbs, Sonja W Scholz, Mary Kay Floeter, Roy H Campbell, Francesco Landi, Robert Bowser, Stefan M Pulst, John M Ravits, Daniel J L MacGowan, Janine Kirby, Erik P Pioro, Roger Pamphlett, James Broach, Glenn Gerhard, Travis L Dunckley, Christopher B Brady, Neil W Kowall, Juan C Troncoso, Isabelle Le Ber, Kevin Mouzat, Serge Lumbroso, Terry D Heiman-Patterson, Freya Kamel, Ludo Van Den Bosch, Robert H Baloh, Tim M Strom, Thomas Meitinger, Aleksey Shatunov, Kristel R Van Eijk, Mamede de Carvalho, Maarten Kooyman, Bas Middelkoop, Matthieu Moisse, Russell L McLaughlin, Michael A Van Es, Markus Weber, Kevin B Boylan, Marka Van Blitterswijk, Rosa Rademakers, Karen E Morrison, A Nazli Basak, Jesús S Mora, Vivian E Drory, Pamela J Shaw, Martin R Turner, Kevin Talbot, Orla Hardiman, Kelly L Williams, Jennifer A Fifita, Garth A Nicholson, Ian P Blair, Guy A Rouleau, Jesús Esteban-Pérez, Alberto García-Redondo, Ammar Al-Chalabi, Ekaterina Rogaeva, Lorne Zinman, Lyle W Ostrow, Nicholas J Maragakis, Jeffrey D Rothstein, Zachary Simmons, Johnathan Cooper-Knock, Alexis Brice, Stephen A Goutman, Eva L Feldman, Summer B Gibson, Franco Taroni, Antonia Ratti, Cinzia Gellera, Philip Van Damme, Wim Robberecht, Pietro Fratta, Mario Sabatelli, Christian Lunetta, Albert C Ludolph, Peter M Andersen, Jochen H Weishaupt, William Camu, John Q Trojanowski, Vivianna M Van Deerlin, Robert H Brown, Leonard H van den Berg, Jan H Veldink, Matthew B Harms, Jonathan D Glass, David J Stone, Pentti Tienari, Vincenzo Silani, Adriano Chiò, Christopher E Shaw, Bryan J Traynor, John E Landers
To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2)...
March 21, 2018: Neuron
https://www.readbyqxmd.com/read/29516269/tau-phosphorylation-is-impacted-by-rare-akap9-mutations-associated-with-alzheimer-disease-in-african-americans
#2
Tsuneya Ikezu, Cidi Chen, Annina M DeLeo, Ella Zeldich, M Daniele Fallin, Nicholas M Kanaan, Kathryn L Lunetta, Carmela R Abraham, Mark W Logue, Lindsay A Farrer
We studied the effect of two rare mutations (rs144662445 and rs149979685) in the A-kinase anchoring protein 9 (AKAP9) gene, previously associated with Alzheimer disease (AD) in African Americans (AA), on post-translational modifications of AD-related pathogenic molecules, amyloid precursor protein (APP) and microtubule-associated protein Tau using lymphoblastoid cell lines (LCLs) from 11 AA subjects with at least one AKAP9 mutation and 17 AA subjects lacking these mutations. LCLs were transduced by viral vectors expressing causative AD mutations in APP or human full-length wild type Tau...
March 7, 2018: Journal of Neuroimmune Pharmacology: the Official Journal of the Society on NeuroImmune Pharmacology
https://www.readbyqxmd.com/read/29512869/cardiovascular-diseases-may-play-a-negative-role-in-the-prognosis-of-als
#3
Jessica Mandrioli, Laura Ferri, Antonio Fasano, Elisabetta Zucchi, Nicola Fini, Cristina Moglia, Christian Lunetta, Kalliopi Marinou, Nicola Ticozzi, Gianluca Drago Ferrante, Carlo Scialo, Gianni Sorarù, Francesca Trojsi, Amelia Conte, Yuri M Falzone, Rosanna Tortelli, Massimo Russo, Valeria Ada Sansone, Gabriele Mora, Vincenzo Silani, Paolo Volanti, Claudia Caponnetto, Giorgia Querin, Maria Rosaria Monsurrò, Mario Sabatelli, Adriano Chiò, Nilo Riva, Giancarlo Logroscino, Sonia Messina, Andrea Calvo
BACKGROUND: Only a few studies considered the role of comorbidities on ALS prognosis and provided conflicting results. METHODS: our multicenter, retrospective study included patients diagnosed from 1/1/2009 to 31/12/2013 in 13 Referral Centers for ALS located in 10 Italian Regions. Caring neurologists collected a detailed phenotypic profile and follow-up data until death into an electronic database. Comorbidities at diagnosis were recorded by main categories and single medical diagnosis, with the aim of investigating their role on ALS prognosis...
March 7, 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/29486463/genetic-variation-in-genes-underlying-diverse-dementias-may-explain-a-small-proportion-of-cases-in-the-alzheimer-s-disease-sequencing-project
#4
Elizabeth E Blue, Joshua C Bis, Michael O Dorschner, Debby W Tsuang, Sandra M Barral, Gary Beecham, Jennifer E Below, William S Bush, Mariusz Butkiewicz, Carlos Cruchaga, Anita DeStefano, Lindsay A Farrer, Alison Goate, Jonathan Haines, Jim Jaworski, Gyungah Jun, Brian Kunkle, Amanda Kuzma, Jenny J Lee, Kathryn L Lunetta, Yiyi Ma, Eden Martin, Adam Naj, Alejandro Q Nato, Patrick Navas, Hiep Nguyen, Christiane Reitz, Dolly Reyes, William Salerno, Gerard D Schellenberg, Sudha Seshadri, Harkirat Sohi, Timothy A Thornton, Otto Valadares, Cornelia van Duijn, Badri N Vardarajan, Li-San Wang, Eric Boerwinkle, Josée Dupuis, Margaret A Pericak-Vance, Richard Mayeux, Ellen M Wijsman
BACKGROUND/AIMS: The Alzheimer's Disease Sequencing Project (ADSP) aims to identify novel genes influencing Alzheimer's disease (AD). Variants within genes known to cause dementias other than AD have previously been associated with AD risk. We describe evidence of co-segregation and associations between variants in dementia genes and clinically diagnosed AD within the ADSP. METHODS: We summarize the properties of known pathogenic variants within dementia genes, describe the co-segregation of variants annotated as "pathogenic" in ClinVar and new candidates observed in ADSP families, and test for associations between rare variants in dementia genes in the ADSP case-control study...
February 27, 2018: Dementia and Geriatric Cognitive Disorders
https://www.readbyqxmd.com/read/29458411/genome-wide-pleiotropy-analysis-of-neuropathological-traits-related-to-alzheimer-s-disease
#5
Jaeyoon Chung, Xiaoling Zhang, Mariet Allen, Xue Wang, Yiyi Ma, Gary Beecham, Thomas J Montine, Steven G Younkin, Dennis W Dickson, Todd E Golde, Nathan D Price, Nilüfer Ertekin-Taner, Kathryn L Lunetta, Jesse Mez, Richard Mayeux, Jonathan L Haines, Margaret A Pericak-Vance, Gerard Schellenberg, Gyungah R Jun, Lindsay A Farrer
BACKGROUND: Simultaneous consideration of two neuropathological traits related to Alzheimer's disease (AD) has not been attempted in a genome-wide association study. METHODS: We conducted genome-wide pleiotropy analyses using association summary statistics from the Beecham et al. study (PLoS Genet 10:e1004606, 2014) for AD-related neuropathological traits, including neuritic plaque (NP), neurofibrillary tangle (NFT), and cerebral amyloid angiopathy (CAA). Significant findings were further examined by expression quantitative trait locus and differentially expressed gene analyses in AD vs...
February 20, 2018: Alzheimer's Research & Therapy
https://www.readbyqxmd.com/read/29374233/gwas-of-epigenetic-aging-rates-in-blood-reveals-a-critical-role-for-tert
#6
Ake T Lu, Luting Xue, Elias L Salfati, Brian H Chen, Luigi Ferrucci, Daniel Levy, Roby Joehanes, Joanne M Murabito, Douglas P Kiel, Pei-Chien Tsai, Idil Yet, Jordana T Bell, Massimo Mangino, Toshiko Tanaka, Allan F McRae, Riccardo E Marioni, Peter M Visscher, Naomi R Wray, Ian J Deary, Morgan E Levine, Austin Quach, Themistocles Assimes, Philip S Tsao, Devin Absher, James D Stewart, Yun Li, Alex P Reiner, Lifang Hou, Andrea A Baccarelli, Eric A Whitsel, Abraham Aviv, Alexia Cardona, Felix R Day, Nicholas J Wareham, John R B Perry, Ken K Ong, Kenneth Raj, Kathryn L Lunetta, Steve Horvath
DNA methylation age is an accurate biomarker of chronological age and predicts lifespan, but its underlying molecular mechanisms are unknown. In this genome-wide association study of 9907 individuals, we find gene variants mapping to five loci associated with intrinsic epigenetic age acceleration (IEAA) and gene variants in three loci associated with extrinsic epigenetic age acceleration (EEAA). Mendelian randomization analysis suggests causal influences of menarche and menopause on IEAA and lipoproteins on IEAA and EEAA...
January 26, 2018: Nature Communications
https://www.readbyqxmd.com/read/29351100/sudden-unexpected-death-from-unusually-large-primary-cardiac-b-cell-lymphoma
#7
Julius Tikka, Samuli Vaittinen, Lasse Pakanen, Philippe Lunetta
Primary cardiac lymphomas represent approximately 1% to 2% of primary cardiac neoplasms and 5% of malignant cardiac neoplasms. Here we present a case of sudden unexpected death of a middle-aged male resulting from an unusually large cardiac B-cell lymphoma. The neoplasm infiltrated the myocardium of the right atrium and ventricle and, to a lesser extent, the wall of the left atrium and pulmonary trunk. Extensive infiltration of the heart by the primary cardiac lymphoma, combined with the complete lack of symptoms, makes this case unusual...
January 18, 2018: American Journal of Forensic Medicine and Pathology
https://www.readbyqxmd.com/read/29339359/genetic-variants-in-immune-related-pathways-and-breast-cancer-risk-in-african-american-women-in-the-amber-consortium
#8
Chi-Chen Hong, Lara E Sucheston-Campbell, Song Liu, Qiang Hu, Song Yao, Kathryn L Lunetta, Stephen A Haddad, Edward A Ruiz-Narváez, Jeannette T Bensen, Ting-Yuan David Cheng, Elisa V Bandera, Lynn A Rosenberg, Christopher A Haiman, Kelvin Lee, Sharon S Evans, Scott I Abrams, Elizabeth A Repasky, Andrew F Olshan, Julie R Palmer, Christine B Ambrosone
Background: Constitutional immunity shaped by exposure to endemic infectious diseases and parasitic worms in Sub-Saharan Africa may play a role in the etiology of breast cancer among African American (AA) women. Methods: A total of 149,514 gene variants in 433 genes across 45 immune pathways were analyzed in the AMBER consortium among 3,663 breast cancer cases and 4,687 controls. Gene-based pathway analyses were conducted using the adaptive rank truncated product statistic for overall breast cancer risk, and risk by estrogen receptor (ER) status...
March 2018: Cancer Epidemiology, Biomarkers & Prevention
https://www.readbyqxmd.com/read/29325096/genetic-determinants-of-circulating-estrogen-levels-and-evidence-of-a-causal-effect-of-estradiol-on-bone-density-in-men
#9
Anna L Eriksson, John R B Perry, Andrea D Coviello, Graciela E Delgado, Luigi Ferrucci, Andrew R Hoffman, Ilpo T Huhtaniemi, M Arfan Ikram, Magnus K Karlsson, Marcus E Kleber, Gail A Laughlin, Yongmei Liu, Mattias Lorentzon, Kathryn L Lunetta, Dan Mellström, Joanne M Murabito, Anna Murray, Maria Nethander, Carrie M Nielson, Inga Prokopenko, Stephen R Pye, Leslie J Raffel, Fernando Rivadeneira, Priya Srikanth, Lisette Stolk, Alexander Teumer, Thomas G Travison, André G Uitterlinden, Dhananjay Vaidya, Dirk Vanderschueren, Joseph M Zmuda, Winfried März, Eric S Orwoll, Pamela Ouyang, Liesbeth Vandenput, Frederick C W Wu, Frank H de Jong, Shalender Bhasin, Douglas P Kiel, Claes Ohlsson
Context: Serum estradiol (E2) and estrone (E1) levels exhibit substantial heritability. Objective: To investigate the genetic regulation of serum E2 and E1 in men. Design, Setting, and Participants: Genome-wide association study in 11,097 men of European origin from nine epidemiological cohorts. Main Outcome Measures: Genetic determinants of serum E2 and E1 levels. Results: Variants in/near CYP19A1 demonstrated the strongest evidence for association with E2, resolving to three independent signals...
March 1, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29274668/atxn1-intermediate-length-polyglutamine-expansions-are-associated-with-amyotrophic-lateral-sclerosis
#10
Serena Lattante, Maria Grazia Pomponi, Amelia Conte, Giuseppe Marangi, Giulia Bisogni, Agata Katia Patanella, Emiliana Meleo, Christian Lunetta, Nilo Riva, Lorena Mosca, Paola Carrera, Marco Bee, Marcella Zollino, Mario Sabatelli
To clarify the possible involvement of intermediate ATXN1 alleles as risk factors for amyotrophic lateral sclerosis (ALS), we tested ATXN1 in a cohort of 1146 Italian ALS patients, previously screened for variants in other ALS genes, and in 529 controls. We detected ATXN1 alleles with ≥33 polyglutamine repeats in 105 of 1146 patients (9.16%) and 29 of 529 controls (5.48%) (p = 0.003). The frequency of ATXN1 alleles with ≥33 polyglutamine repeats was particularly high in the group of ALS patients carrying the C9orf72 expansion (12/59, 20...
April 2018: Neurobiology of Aging
https://www.readbyqxmd.com/read/29274321/genome-wide-association-study-of-alzheimer-s-disease-endophenotypes-at-prediagnosis-stages
#11
Jaeyoon Chung, Xulong Wang, Toru Maruyama, Yiyi Ma, Xiaoling Zhang, Jesse Mez, Richard Sherva, Haruko Takeyama, Kathryn L Lunetta, Lindsay A Farrer, Gyungah R Jun
INTRODUCTION: Genetic associations for endophenotypes of Alzheimer's disease (AD) in cognitive stages preceding AD have not been thoroughly evaluated. METHODS: We conducted genome-wide association studies for AD-related endophenotypes including hippocampal volume, logical memory scores, and cerebrospinal fluid Aβ42 and total/phosphorylated tau in cognitively normal (CN), mild cognitive impairment, and AD dementia subjects from the Alzheimer's Disease Neuroimaging Initiative study...
December 20, 2017: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
https://www.readbyqxmd.com/read/29237688/heritability-of-atrial-fibrillation
#12
Lu-Chen Weng, Seung Hoan Choi, Derek Klarin, J Gustav Smith, Po-Ru Loh, Mark Chaffin, Carolina Roselli, Olivia L Hulme, Kathryn L Lunetta, Josée Dupuis, Emelia J Benjamin, Christopher Newton-Cheh, Sekar Kathiresan, Patrick T Ellinor, Steven A Lubitz
BACKGROUND: Previous reports have implicated multiple genetic loci associated with AF, but the contributions of genome-wide variation to AF susceptibility have not been quantified. METHODS AND RESULTS: We assessed the contribution of genome-wide single-nucleotide polymorphism variation to AF risk (single-nucleotide polymorphism heritability, h 2 g ) using data from 120 286 unrelated individuals of European ancestry (2987 with AF) in the population-based UK Biobank...
December 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/29138179/association-between-leukocyte-telomere-length-and-the-risk-of-incident-atrial-fibrillation-the-framingham-heart-study
#13
Laila Staerk, Biqi Wang, Kathryn L Lunetta, Robert H Helm, Darae Ko, Jason A Sherer, Patrick T Ellinor, Steven A Lubitz, David D McManus, Ramachandran S Vasan, Emelia J Benjamin, Ludovic Trinquart
BACKGROUND: Advancing age is a prominent risk factor for atrial fibrillation (AF). Shorter telomere length is a biomarker of biological aging, but the link between shorter telomere length and increased risk of AF remains unclear. We examined the association between shorter leukocyte telomere length (LTL) and incident AF. METHODS AND RESULTS: We included AF-free participants from the observational Framingham Heart Study Offspring cohort from 1995 to 1998, who had LTL measurements...
November 14, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/29135455/transcriptome-wide-association-study-of-inflammatory-biologic-age
#14
Honghuang Lin, Kathryn L Lunetta, Qiang Zhao, Jian Rong, Emelia J Benjamin, Michael M Mendelson, Roby Joehanes, Daniel Levy, Martin G Larson, Joanne M Murabito
Chronic low grade inflammation is a fundamental mechanism of aging. We estimated biologic age using nine biomarkers from diverse inflammatory pathways and we hypothesized that genes associated with inflammatory biological age would provide insights into human aging. In Framingham Offspring Study participants at examination 8 (2005 to 2008), we used the Klemera-Doubal method to estimate inflammatory biologic age and we computed the difference (∆Age) between biologic age and chronologic age. Gene expression in whole blood was measured using the Affymetrix Human Exon 1...
November 11, 2017: Aging
https://www.readbyqxmd.com/read/29131982/multimodal-mri-quantification-of-the-common-neurostructural-bases-within-the-ftd-als-continuum
#15
Chiara Crespi, Alessandra Dodich, Stefano F Cappa, Nicola Canessa, Sandro Iannaccone, Massimo Corbo, Christian Lunetta, Andrea Falini, Chiara Cerami
The continuum hypothesis linking the behavioral variant of frontotemporal dementia (bvFTD) and amyotrophic lateral sclerosis (ALS) is supported by clinical, pathological, genetic, and neuroimaging evidence. In the present multimodal magnetic resonance study, we characterized the site and extent of shared neurostructural changes in gray and white matter in 20 bvFTD and 19 ALS patients without dementia. We found an overlap of macrostructural and microstructural damage in both patient groups compared with healthy controls, involving the right orbital and the bilateral anterior cingulate cortices, the corticospinal tract and corpus callosum...
February 2018: Neurobiology of Aging
https://www.readbyqxmd.com/read/29129827/genetic-predisposition-clinical-risk-factor-burden-and-lifetime-risk-of-atrial-fibrillation
#16
Lu-Chen Weng, Sarah R Preis, Olivia L Hulme, Martin G Larson, Seung Hoan Choi, Biqi Wang, Ludovic Trinquart, David D McManus, Laila Staerk, Honghuang Lin, Kathryn L Lunetta, Patrick T Ellinor, Emelia J Benjamin, Steven A Lubitz
BACKGROUND: The long-term probability of developing atrial fibrillation (AF) considering genetic predisposition and clinical risk factor burden is unknown. METHODS: We estimated the lifetime risk of AF in individuals from the community-based Framingham Heart Study. Polygenic risk for AF was derived using a score of ≈1000 AF-associated single-nucleotide polymorphisms. Clinical risk factor burden was calculated for each individual using a validated risk score for incident AF comprised of height, weight, systolic and diastolic blood pressure, current smoking status, antihypertensive medication use, diabetes mellitus, history of myocardial infarction, and history of heart failure...
March 6, 2018: Circulation
https://www.readbyqxmd.com/read/29112599/genetic-variants-associated-with-earlier-age-at-menopause-increase-the-risk-of-cardiovascular-events-in-women
#17
Chloé Sarnowski, Maryam Kavousi, Steve Isaacs, Ellen W Demerath, Linda Broer, Taulant Muka, Oscar H Franco, Mohammad Arfan Ikram, André Uitterlinden, Nora Franceschini, Kathryn L Lunetta, Joanne M Murabito
OBJECTIVE: To better understand the relationship between cardiovascular disease risk and age-at-natural menopause using genetic data. METHODS: Early menopause is associated with cardiovascular disease risk. We constructed a genetic risk score comprising 56 age-at-natural menopause decreasing alleles in men and women from the Framingham Heart Study, the Atherosclerosis Risk in Communities Study, and the Rotterdam Study. If the genetic predisposition to earlier age-at-natural menopause is associated with increased cardiovascular disease risk, it is reasonable to ask whether the risk is shared by men carrying the alleles, despite not experiencing menopause...
November 6, 2017: Menopause: the Journal of the North American Menopause Society
https://www.readbyqxmd.com/read/29063790/trauma-and-amyotrophic-lateral-sclerosis-a-european-population-based-case-control-study-from-the-eurals-consortium
#18
Elisabetta Pupillo, Marco Poloni, Elisa Bianchi, Giorgia Giussani, Giancarlo Logroscino, Stefano Zoccolella, Adriano Chiò, Andrea Calvo, Massimo Corbo, Christian Lunetta, Benoit Marin, Douglas Mitchell, Orla Hardiman, James Rooney, Zorica Stevic, Monica Bandettini di Poggio, Massimiliano Filosto, Maria Sofia Cotelli, Michele Perini, Nilo Riva, Lucio Tremolizzo, Eugenio Vitelli, Danira Damiani, Ettore Beghi
OBJECTIVES: To assess the association between amyotrophic lateral sclerosis (ALS) and previous traumatic events, age of trauma, and site of injury. METHODS: A population-based case-control study was performed in five European countries (Italy, Ireland, France, United Kingdom, Serbia). Newly diagnosed ALS patients and matched controls were interviewed to collect relevant demographic factors and exposures. Key clinical features at diagnosis were collected in ALS patients...
October 24, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28977464/measures-of-biologic-age-in-a-community-sample-predict-mortality-and-age-related-disease-the-framingham-offspring-study
#19
Joanne M Murabito, Qiang Zhao, Martin G Larson, Jian Rong, Honghuang Lin, Emelia J Benjamin, Daniel Levy, Kathryn L Lunetta
Background: We tested the association of biologic age (BA) measures constructed from different types of biomarkers with mortality and disease in a community-based sample. Methods: In Framingham Offspring participants at Exams 7 (1998-2001, mean age 62 ± 10) and 8 (2005-2008, mean age 67 ± 9), we used the Klemera-Doubal method to estimate clinical BA and inflammatory BA and computed the difference (∆age) between BA and CA. Clinical ∆age was computed at Exam 2 (1979-1983, mean age 45 ± 10)...
July 25, 2017: Journals of Gerontology. Series A, Biological Sciences and Medical Sciences
https://www.readbyqxmd.com/read/28974514/diminished-prrx1-expression-is-associated-with-increased-risk-of-atrial-fibrillation-and-shortening-of-the-cardiac-action-potential
#20
Nathan R Tucker, Elena V Dolmatova, Honghuang Lin, Rebecca R Cooper, Jiangchuan Ye, William J Hucker, Heather S Jameson, Victoria A Parsons, Lu-Chen Weng, Robert W Mills, Moritz F Sinner, Maxim Imakaev, Jordan Leyton-Mange, Gus Vlahakes, Emelia J Benjamin, Kathryn L Lunetta, Steven A Lubitz, Leonid Mirny, David J Milan, Patrick T Ellinor
BACKGROUND: Atrial fibrillation (AF) affects over 33 million individuals worldwide. Genome-wide association studies have identified at least 30 AF loci, but the mechanisms through which individual variants lead to altered disease risk have remained unclear for the majority of these loci. At the 1q24 locus, we hypothesized that the transcription factor PRRX1 could be a strong candidate gene as it is expressed in the pulmonary veins, a source of AF in many individuals. We sought to identify the molecular mechanism, whereby variation at 1q24 may lead to AF susceptibility...
October 2017: Circulation. Cardiovascular Genetics
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