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79 results on '"Murabito A"'

2. Deleterious heteroplasmic mitochondrial mutations are associated with an increased risk of overall and cancer-specific mortality

Author

Hong, Yun Soo, primary, Battle, Stephanie L., additional, Shi, Wen, additional, Puiu, Daniela, additional, Pillalamarri, Vamsee, additional, Xie, Jiaqi, additional, Pankratz, Nathan, additional, Lake, Nicole J., additional, Lek, Monkol, additional, Rotter, Jerome I., additional, Rich, Stephen S., additional, Kooperberg, Charles, additional, Reiner, Alex P., additional, Auer, Paul L., additional, Heard-Costa, Nancy, additional, Liu, Chunyu, additional, Lai, Meng, additional, Murabito, Joanne M., additional, Levy, Daniel, additional, Grove, Megan L., additional, Alonso, Alvaro, additional, Gibbs, Richard, additional, Dugan-Perez, Shannon, additional, Gondek, Lukasz P., additional, Guallar, Eliseo, additional, and Arking, Dan E., additional

Published
2023
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4. Factors associated with long-term use of digital devices in the electronic Framingham Heart Study

Author

Pathiravasan, Chathurangi H., primary, Zhang, Yuankai, additional, Wang, Xuzhi, additional, Trinquart, Ludovic, additional, Benjamin, Emelia J., additional, Borrelli, Belinda, additional, McManus, David D., additional, Kheterpal, Vik, additional, Lin, Honghuang, additional, Spartano, Nicole L., additional, Schramm, Eric, additional, Liu, Chunyu, additional, and Murabito, Joanne M., additional

Published
2022
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5. Clonal hematopoiesis of indeterminate potential, DNA methylation, and risk for coronary artery disease

Author

M d Mesbah Uddin, Ngoc Quynh H. Nguyen, Bing Yu, Jennifer A. Brody, Akhil Pampana, Tetsushi Nakao, Myriam Fornage, Jan Bressler, Nona Sotoodehnia, Joshua S. Weinstock, Michael C. Honigberg, Daniel Nachun, Romit Bhattacharya, Gabriel K. Griffin, Varuna Chander, Richard A. Gibbs, Jerome I. Rotter, Chunyu Liu, Andrea A. Baccarelli, Daniel I. Chasman, Eric A. Whitsel, Douglas P. Kiel, Joanne M. Murabito, Eric Boerwinkle, Benjamin L. Ebert, Siddhartha Jaiswal, James S. Floyd, Alexander G. Bick, Christie M. Ballantyne, Bruce M. Psaty, Pradeep Natarajan, and Karen N. Conneely

Subjects
Multidisciplinary, Humans, General Physics and Astronomy, Coronary Artery Disease, General Chemistry, Clonal Hematopoiesis, DNA Methylation, Hematopoietic Stem Cells, General Biochemistry, Genetics and Molecular Biology, Hematopoiesis
Abstract

Age-related changes to the genome-wide DNA methylation (DNAm) pattern observed in blood are well-documented. Clonal hematopoiesis of indeterminate potential (CHIP), characterized by the age-related acquisition and expansion of leukemogenic mutations in hematopoietic stem cells (HSCs), is associated with blood cancer and coronary artery disease (CAD). Epigenetic regulators DNMT3A and TET2 are the two most frequently mutated CHIP genes. Here, we present results from an epigenome-wide association study for CHIP in 582 Cardiovascular Health Study (CHS) participants, with replication in 2655 Atherosclerosis Risk in Communities (ARIC) Study participants. We show that DNMT3A and TET2 CHIP have distinct and directionally opposing genome-wide DNAm association patterns consistent with their regulatory roles, albeit both promoting self-renewal of HSCs. Mendelian randomization analyses indicate that a subset of DNAm alterations associated with these two leading CHIP genes may promote the risk for CAD.

Published
2022
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6. Clonal hematopoiesis of indeterminate potential, DNA methylation, and risk for coronary artery disease

Author

Uddin, M d Mesbah, primary, Nguyen, Ngoc Quynh H., additional, Yu, Bing, additional, Brody, Jennifer A., additional, Pampana, Akhil, additional, Nakao, Tetsushi, additional, Fornage, Myriam, additional, Bressler, Jan, additional, Sotoodehnia, Nona, additional, Weinstock, Joshua S., additional, Honigberg, Michael C., additional, Nachun, Daniel, additional, Bhattacharya, Romit, additional, Griffin, Gabriel K., additional, Chander, Varuna, additional, Gibbs, Richard A., additional, Rotter, Jerome I., additional, Liu, Chunyu, additional, Baccarelli, Andrea A., additional, Chasman, Daniel I., additional, Whitsel, Eric A., additional, Kiel, Douglas P., additional, Murabito, Joanne M., additional, Boerwinkle, Eric, additional, Ebert, Benjamin L., additional, Jaiswal, Siddhartha, additional, Floyd, James S., additional, Bick, Alexander G., additional, Ballantyne, Christie M., additional, Psaty, Bruce M., additional, Natarajan, Pradeep, additional, and Conneely, Karen N., additional

Published
2022
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7. Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

Author

Nancy L. Heard-Costa, Lucas Barwick, Clary B. Clish, Celeste Eng, Joanne M. Murabito, Esteban G. Burchard, Yii-Der Ida Chen, Daniel I. Chasman, Robert C. Kaplan, James B. Meigs, Deborah A. Nickerson, Cashell E. Jaquish, Eric Boerwinkle, Jennifer A. Brody, Charles Kooperberg, Mark T. Gladwin, Sebastian Schoenherr, Keng-Han Lin, John Barnard, Ryan D. Hernandez, Andrew D. Johnson, Edwin K. Silverman, Mollie A. Minear, Michelle Daya, Barbara A. Konkle, Sharon R. Browning, Daniel E. Weeks, Wendy S. Post, Alexander P. Reiner, Kathryn L. Lunetta, Gina M. Peloso, David Van Den Berg, Dan E. Arking, Seung-been Lee, Leslie A. Lange, Cristen J. Willer, Zachary A. Szpiech, Tasha E. Fingerlin, Wayne E. Clarke, Xutong Zhao, Stephen S. Rich, Nora Franceschini, Sudha Seshadri, Chloé Sarnowski, Hyun Min Kang, Sayantan Das, Michael C. Zody, Stephanie M. Fullerton, Dean Bobo, Alanna C. Morrison, Brian Custer, Nona Sotoodehnia, Shannon Kelly, Thomas W. Blackwell, Bruce M. Psaty, Yingze Zhang, Susan R. Heckbert, Robert E. Gerszten, M. Benjamin Shoemaker, Daniel Taliun, Leslie S. Emery, André Corvelo, Michael H. Cho, Braxton D. Mitchell, Xiaoming Liu, Stella Aslibekyan, Paul L. Auer, Brandon Chalazan, Sarah C. Nelson, Seung Hoan Choi, Jeong-Sun Seo, Matthew P. Conomos, Anne-Katrin Emde, Lawrence F. Bielak, Alisa K. Manning, Allison E. Ashley-Koch, Diane Fatkin, Xiaowen Tian, Emelia J. Benjamin, D. C. Rao, Mina K. Chung, Myriam Fornage, Daniel Levy, Michael D. Kessler, Weihong Tang, Daniel J. Gottlieb, Pradeep Natarajan, Jessica Lasky-Su, Amol C. Shetty, Cathy C. Laurie, Dan M. Roden, Timothy D. O’Connor, Jedidiah Carlson, Lewis C. Becker, Achilleas N. Pitsillides, Karine A. Viaud-Martinez, Raul Torres, Adolfo Correa, Christian Fuchsberger, Deborah A. Meyers, Alvaro Alonso, Sanghamitra Mohanty, Jonathon LeFaive, Soren Germer, Julie L. Mikulla, François Aguet, Susan K. Dutcher, Sarah A Gagliano Taliun, Ani Manichaikul, Lori Garman, Xiuqing Guo, Timothy A. Thornton, David D. McManus, Albert V. Smith, Kristin G. Ardlie, Anna Köttgen, Sharon L.R. Kardia, Quenna Wong, Jill M. Johnsen, Andrea Natale, Richard A. Gibbs, Douglas P. Kiel, Ingo Ruczinski, Susan Redline, Lukas Forer, Scott I. Vrieze, May E. Montasser, Rasika A. Mathias, Jerome I. Rotter, Jacob Pleiness, Chunyu Liu, Brian L. Browning, James G. Wilson, Weiniu Gan, Christine M. Albert, Marilyn J. Telen, Courtney G. Montgomery, Steven A. Lubitz, Robert Klemmer, Ramachandran S. Vasan, Nathan Pankratz, Mariza de Andrade, Vivien A. Sheehan, Kenneth Rice, Xihong Lin, Eimear E. Kenny, Stephanie M. Gogarten, John Blangero, Donna K. Arnett, Jiang He, Pankaj Qasba, James F. Casella, Patrick T. Ellinor, Nicholette D. Palmer, R. Graham Barr, Scott T. Weiss, Joanne E. Curran, Bruce S. Weir, Kari E. North, L. Adrienne Cupples, Dawn L. DeMeo, Tanika N. Kelly, Angel C.Y. Mak, Russell P. Tracy, David A. Schwartz, Kent D. Taylor, Rebecca L. Beer, Daniel N. Harris, George J. Papanicolaou, Marguerite R. Irvin, Stephen T. McGarvey, Sebastian Zöllner, Patricia A. Peyser, Brian E. Cade, Ruth J. F. Loos, Douglas Loesch, Nicholas L. Smith, Gonçalo R. Abecasis, Jennifer A. Smith, Michael E. Hall, Lu-Chen Weng, Jeffrey R. O'Connell, Adrienne M. Stilp, Donald W. Bowden, Kathleen C. Barnes, Stacey Gabriel, Michael Boehnke, Wayne Huey-Herng Sheu, and Dawood Darbar

Subjects
Quality Control, Heterozygote, Genomics, Computational biology, Biology, Polymorphism, Single Nucleotide, Genome, Article, DNA sequencing, INDEL Mutation, Loss of Function Mutation, Genetics research, Genetic variation, Humans, Precision Medicine, Genetic association, Population Density, Multidisciplinary, Whole Genome Sequencing, Genome, Human, Genetic Variation, Rare variants, United States, Genetic architecture, Phenotype, Cytochrome P-450 CYP2D6, Haplotypes, Mutagenesis, Sample Size, Next-generation sequencing, National Heart, Lung, and Blood Institute (U.S.), Imputation (genetics), Reference genome
Abstract

The Trans-Omics for Precision Medicine (TOPMed) programme seeks to elucidate the genetic architecture and biology of heart, lung, blood and sleep disorders, with the ultimate goal of improving diagnosis, treatment and prevention of these diseases. The initial phases of the programme focused on whole-genome sequencing of individuals with rich phenotypic data and diverse backgrounds. Here we describe the TOPMed goals and design as well as the available resources and early insights obtained from the sequence data. The resources include a variant browser, a genotype imputation server, and genomic and phenotypic data that are available through dbGaP (Database of Genotypes and Phenotypes)1. In the first 53,831 TOPMed samples, we detected more than 400 million single-nucleotide and insertion or deletion variants after alignment with the reference genome. Additional previously undescribed variants were detected through assembly of unmapped reads and customized analysis in highly variable loci. Among the more than 400 million detected variants, 97% have frequencies of less than 1% and 46% are singletons that are present in only one individual (53% among unrelated individuals). These rare variants provide insights into mutational processes and recent human evolutionary history. The extensive catalogue of genetic variation in TOPMed studies provides unique opportunities for exploring the contributions of rare and noncoding sequence variants to phenotypic variation. Furthermore, combining TOPMed haplotypes with modern imputation methods improves the power and reach of genome-wide association studies to include variants down to a frequency of approximately 0.01%., The goals, resources and design of the NHLBI Trans-Omics for Precision Medicine (TOPMed) programme are described, and analyses of rare variants detected in the first 53,831 samples provide insights into mutational processes and recent human evolutionary history.

Published
2021
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8. Predictors of incident diabetes in two populations: framingham heart study and hispanic community health study / study of latinos

Author

Robert C, Kaplan, Rebecca J, Song, Juan, Lin, Vanessa, Xanthakis, Simin, Hua, Ariel, Chernofsky, Kelly R, Evenson, Maura E, Walker, Carmen, Cuthbertson, Joanne M, Murabito, Christina, Cordero, Martha, Daviglus, Krista M, Perreira, Marc, Gellman, Daniela, Sotres-Alvarez, Ramachandran S, Vasan, Xiaonan, Xue, Nicole L, Spartano, and Yasmin, Mossavar-Rahmani

Subjects
Adult, Male, Hypertension, Diabetes Mellitus, Public Health, Environmental and Occupational Health, Humans, Hispanic or Latino, Longitudinal Studies, Public Health, Body Mass Index
Abstract

Background Non-genetic factors contribute to differences in diabetes risk across race/ethnic and socioeconomic groups, which raises the question of whether effects of predictors of diabetes are similar across populations. We studied diabetes incidence in the primarily non-Hispanic White Framingham Heart Study (FHS, N = 4066) and the urban, largely immigrant Hispanic Community Health Study/Study of Latinos (HCHS/SOL, N = 6891) Please check if the affiliations are captured and presented correctly. Methods Clinical, behavioral, and socioeconomic characteristics were collected at in-person examinations followed by seven-day accelerometry. Among individuals without diabetes, Cox proportional hazards regression models (both age- and sex-adjusted, and then multivariable-adjusted for all candidate predictors) identified predictors of incident diabetes over a decade of follow-up, defined using clinical history or laboratory assessments. Results Four independent predictors were shared between FHS and HCHS/SOL. In each cohort, the multivariable-adjusted hazard of diabetes increased by approximately 50% for every ten-year increment of age and every five-unit increment of body mass index (BMI), and was 50–70% higher among hypertensive than among non-hypertensive individuals (all P Conclusions The same four independent predictors – age, body mass index, hypertension and employment status – were associated with diabetes risk across two disparate US populations. While the reason for elevated diabetes risk in full-time workers is unclear, the findings suggest that diabetes may be part of the work-related burden of disease. Our findings also support prior evidence that differences by gender and socioeconomic position in diabetes risk are not universally present across populations.

Published
2022
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9. Predictors of incident diabetes in two populations: framingham heart study and hispanic community health study / study of latinos

Author

Kaplan, Robert C., primary, Song, Rebecca J., additional, Lin, Juan, additional, Xanthakis, Vanessa, additional, Hua, Simin, additional, Chernofsky, Ariel, additional, Evenson, Kelly R., additional, Walker, Maura E., additional, Cuthbertson, Carmen, additional, Murabito, Joanne M., additional, Cordero, Christina, additional, Daviglus, Martha, additional, Perreira, Krista M., additional, Gellman, Marc, additional, Sotres-Alvarez, Daniela, additional, Vasan, Ramachandran S., additional, Xue, Xiaonan, additional, Spartano, Nicole L., additional, and Mossavar-Rahmani, Yasmin, additional

Published
2022
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10. Early de-tethering: analysis of urological and clinical consequences in a series of 40 children

Author

G. Selvaggio, Micol Babini, Dario Caldiroli, Elena Beretta, Grazia Devigili, Roberto Cordella, Laura Valentini, Paolo Murabito, and Francesca Destro

Subjects
medicine.medical_specialty, Intraoperative Neurophysiological Monitoring, 030232 urology & nephrology, Neurosurgical Procedures, 03 medical and health sciences, 0302 clinical medicine, Bulbocavernosus reflex, Anesthesiology, medicine, Humans, Neural Tube Defects, Radical surgery, business.industry, General Medicine, Perioperative, Lipoma, medicine.disease, Surgery, Urodynamics, Treatment Outcome, Pediatrics, Perinatology and Child Health, Neurology (clinical), Neurosurgery, business, Myelocystocele, 030217 neurology & neurosurgery, Intraoperative neurophysiological monitoring
Abstract

Early de-tethering procedures are performed on spinal dysraphisms to prevent neuro-urological deterioration caused by growth. Partial lipoma removal may cause delayed deterioration by re-tethering, while complete removal may increase the risk of postoperative worsening. The present study evaluates the risk of postoperative deterioration and the protective potential of intraoperative neurophysiological monitoring (IOM), with a special reference to the conus lipomas treated with the radical approach. Forty toddlers (

Published
2020
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11. The unleashing of the immune system in COVID-19 and sepsis: the calm before the storm?

Author

Paolo Banfi, Salvatore Bellinvia, Matteo Fallico, Christopher J Edwards, Matteo Schisano, and Paolo Murabito

Subjects
0301 basic medicine, medicine.medical_specialty, Inflammatory receptors, Pneumonia, Viral, Immunology, Disease, Cytokine storm, medicine.disease_cause, Sepsis, Betacoronavirus, 03 medical and health sciences, 0302 clinical medicine, Immune system, Pandemic, Health care, medicine, Humans, Intensive care medicine, Pandemics, Inflammation, Pharmacology, SARS-CoV-2, business.industry, COVID-19, Immune dysregulation, medicine.disease, Immunity, Innate, Pneumonia, 030104 developmental biology, Immune System, 030220 oncology & carcinogenesis, Cytokines, Coronavirus Infections, Cytokine Release Syndrome, business, Checkpoint inhibitors, Biomarkers
Abstract

The novel coronavirus disease 2019 (COVID-19) pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is sorely testing health care systems and economies around the world and is rightly considered as the major health emergency in a century. Despite the course of the disease appearing to be mild in many cases, a significant proportion of symptomatic patients develop pneumonia requiring hospitalisation or progress to manifest respiratory complications leading to intensive care treatment. Potential interventions for SARS-CoV2-associated pneumonia are being tested, some of which holding promise, but as of today none of these has yet demonstrated outstanding efficacy in treating COVID-19. In this article, we discuss fresh perspectives and insights into the potential role of immune dysregulation in COVID-19 as well as similarities with systemic inflammatory response in sepsis and the rationale for exploring novel treatment options affecting host immune response.

Published
2020
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12. A National Multicenter Study on overall survival in elderly metastatic castrate-resistant prostate cancer patients treated with Radium-223

Author

Alessio Farcomeni, Alessandra Murabito, Anna Giulia Nappi, Valeria Dionisi, Angela Spanu, Laura Cosma, Manlio Mascia, Renato Costa, Susanna Nuvoli, Elisa Lodi Rizzini, Fabio Monari, Valentina Lavelli, Luca Cindolo, Marco Andreola, Viviana Frantellizzi, Giuseppe Rubini, and Giuseppe De Vincentis

Subjects
Male, Radium-223, Aging, medicine.medical_specialty, Castrate-resistant prostate cancer, Bone Neoplasms, Castration-Resistant, 03 medical and health sciences, Basal (phylogenetics), Prostate cancer, Elderly, 0302 clinical medicine, Internal medicine, medicine, Overall survival, Humans, 030212 general & internal medicine, Aged, Retrospective Studies, business.industry, mcrpc, elderly, overall survival, radium-223, prostate cancer, Prostatic Neoplasms, Retrospective cohort study, mCRPC, medicine.disease, Prostatic Neoplasms, Castration-Resistant, Italy, Multicenter study, Cohort, Geriatrics and Gerontology, Settore SECS-S/01, business, 030217 neurology & neurosurgery, Radium, medicine.drug
Abstract

Radium-223 prolongs overall survival (OS) and delays time to the first symptomatic skeletal events in patients with symptomatic metastatic castration-resistant prostate cancer (mCRPC). There is a lack of evidence on the safety and efficacy of Radium-223 treatment in the very elderly population. Aim of this multicentre study is to analyze mCRPC patients treated with Radium-223 in terms of OS and to assess whether there are differences between young and elderly, as well as to verify efficacy and safety in patients ≥ 75 years of age. 430 mCRPC patients of six Italian Centres were analyzed in this multicenter retrospective study. At baseline and after each cycle were collected clinical and diagnostic patients’ parameters. The whole cohort was divided into two groups based on the age of the patients (

Published
2020
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13. The association between social network index, atrial fibrillation, and mortality in the Framingham Heart Study

Author

Jelena Kornej, Darae Ko, Honghuang Lin, Joanne M. Murabito, Emelia J. Benjamin, Ludovic Trinquart, and Sarah R. Preis

Subjects
Multidisciplinary
Abstract

Social isolation might be considered as a marker of poor health and higher mortality. The aim of our analysis was to assess the association of social network index (SNI) with incident AF and death. We selected participants aged ≥ 55 years without prevalent AF from the Framingham Heart Study. We evaluated the association between social isolation measured by the Berkman-Syme Social Network Index (SNI), incident AF, and mortality without diagnosed AF. We assessed the risk factor-adjusted associations between SNI (the sum of 4 components: marriage status, close friends/relatives, religious service attendance, social group participation), incident AF, and mortality without AF by using Fine-Gray competing risk regression models. We secondarily examined the outcome of all-cause mortality. We included 3454 participants (mean age 67 ± 10 years, 58% female). During 11.8 ± 5.2 mean years of follow-up, there were 686 incident AF cases and 965 mortality without AF events. Individuals with fewer connections had lower rates of incident AF (P = 0.04) but higher rates of mortality without AF (P = 0.03). Among SNI components, only social group participation was associated with higher incident AF (subdistribution hazards ratio [sHR] 1.35, 95% CI 1.16–1.57, P = 0.0001). For mortality without AF, social group participation (sHR = 0.81, 95% CI 0.71–0.93, P = 0.002) and regular religious service attendance sHR = 0.76, 95% CI 0.67–0.87, P

Published
2022
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15. Large scale coherent magnetohydrodynamic oscillations in a sunspot

Author

Stangalini, M., primary, Verth, G., additional, Fedun, V., additional, Aldhafeeri, A. A., additional, Jess, D. B., additional, Jafarzadeh, S., additional, Keys, P. H., additional, Fleck, B., additional, Terradas, J., additional, Murabito, M., additional, Ermolli, I., additional, Soler, R., additional, Giorgi, F., additional, and MacBride, C. D., additional

Published
2022
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17. Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation

Author

Longchamps, R. J., primary, Yang, S. Y., additional, Castellani, C. A., additional, Shi, W., additional, Lane, J., additional, Grove, M. L., additional, Bartz, T. M., additional, Sarnowski, C., additional, Liu, C., additional, Burrows, K., additional, Guyatt, A. L., additional, Gaunt, T. R., additional, Kacprowski, T., additional, Yang, J., additional, De Jager, P. L., additional, Yu, L., additional, Bergman, A., additional, Xia, R., additional, Fornage, M., additional, Feitosa, M. F., additional, Wojczynski, M. K., additional, Kraja, A. T., additional, Province, M. A., additional, Amin, N., additional, Rivadeneira, F., additional, Tiemeier, H., additional, Uitterlinden, A. G., additional, Broer, L., additional, Van Meurs, J. B. J., additional, Van Duijn, C. M., additional, Raffield, L. M., additional, Lange, L., additional, Rich, S. S., additional, Lemaitre, R. N., additional, Goodarzi, M. O., additional, Sitlani, C. M., additional, Mak, A. C. Y., additional, Bennett, D. A., additional, Rodriguez, S., additional, Murabito, J. M., additional, Lunetta, K. L., additional, Sotoodehnia, N., additional, Atzmon, G., additional, Ye, K., additional, Barzilai, N., additional, Brody, J. A., additional, Psaty, B. M., additional, Taylor, K. D., additional, Rotter, J. I., additional, Boerwinkle, E., additional, Pankratz, N., additional, and Arking, D. E., additional

Published
2021
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19. Intraoperative protective ventilation in patients undergoing major neurosurgical interventions: a randomized clinical trial

Author

Longhini, Federico, primary, Pasin, Laura, additional, Montagnini, Claudia, additional, Konrad, Petra, additional, Bruni, Andrea, additional, Garofalo, Eugenio, additional, Murabito, Paolo, additional, Pelaia, Corrado, additional, Rondi, Valentina, additional, Dellapiazza, Fabrizio, additional, Cammarota, Gianmaria, additional, Vaschetto, Rosanna, additional, Schultz, Marcus J., additional, and Navalesi, Paolo, additional

Published
2021
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20. Publisher Correction: A meta-analysis of genome-wide association studies identifies multiple longevity genes

Author

Deelen, Joris, primary, Evans, Daniel S., additional, Arking, Dan E., additional, Tesi, Niccolò, additional, Nygaard, Marianne, additional, Liu, Xiaomin, additional, Wojczynski, Mary K., additional, Biggs, Mary L., additional, van der Spek, Ashley, additional, Atzmon, Gil, additional, Ware, Erin B., additional, Sarnowski, Chloé, additional, Smith, Albert V., additional, Seppälä, Ilkka, additional, Cordell, Heather J., additional, Dose, Janina, additional, Amin, Najaf, additional, Arnold, Alice M., additional, Ayers, Kristin L., additional, Barzilai, Nir, additional, Becker, Elizabeth J., additional, Beekman, Marian, additional, Blanché, Hélène, additional, Christensen, Kaare, additional, Christiansen, Lene, additional, Collerton, Joanna C., additional, Cubaynes, Sarah, additional, Cummings, Steven R., additional, Davies, Karen, additional, Debrabant, Birgit, additional, Deleuze, Jean-François, additional, Duncan, Rachel, additional, Faul, Jessica D., additional, Franceschi, Claudio, additional, Galan, Pilar, additional, Gudnason, Vilmundur, additional, Harris, Tamara B., additional, Huisman, Martijn, additional, Hurme, Mikko A., additional, Jagger, Carol, additional, Jansen, Iris, additional, Jylhä, Marja, additional, Kähönen, Mika, additional, Karasik, David, additional, Kardia, Sharon L. R., additional, Kingston, Andrew, additional, Kirkwood, Thomas B. L., additional, Launer, Lenore J., additional, Lehtimäki, Terho, additional, Lieb, Wolfgang, additional, Lyytikäinen, Leo-Pekka, additional, Martin-Ruiz, Carmen, additional, Min, Junxia, additional, Nebel, Almut, additional, Newman, Anne B., additional, Nie, Chao, additional, Nohr, Ellen A., additional, Orwoll, Eric S., additional, Perls, Thomas T., additional, Province, Michael A., additional, Psaty, Bruce M., additional, Raitakari, Olli T., additional, Reinders, Marcel J. T., additional, Robine, Jean-Marie, additional, Rotter, Jerome I., additional, Sebastiani, Paola, additional, Smith, Jennifer, additional, Sørensen, Thorkild I. A., additional, Taylor, Kent D., additional, Uitterlinden, André G., additional, van der Flier, Wiesje, additional, van der Lee, Sven J., additional, van Duijn, Cornelia M., additional, van Heemst, Diana, additional, Vaupel, James W., additional, Weir, David, additional, Ye, Kenny, additional, Zeng, Yi, additional, Zheng, Wanlin, additional, Holstege, Henne, additional, Kiel, Douglas P., additional, Lunetta, Kathryn L., additional, Slagboom, P. Eline, additional, and Murabito, Joanne M., additional

Published
2021
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21. Genome-wide meta-analysis of muscle weakness identifies 15 susceptibility loci in older men and women

Author

Jones, Garan, primary, Trajanoska, Katerina, additional, Santanasto, Adam J., additional, Stringa, Najada, additional, Kuo, Chia-Ling, additional, Atkins, Janice L., additional, Lewis, Joshua R., additional, Duong, ThuyVy, additional, Hong, Shengjun, additional, Biggs, Mary L., additional, Luan, Jian’an, additional, Sarnowski, Chloe, additional, Lunetta, Kathryn L., additional, Tanaka, Toshiko, additional, Wojczynski, Mary K., additional, Cvejkus, Ryan, additional, Nethander, Maria, additional, Ghasemi, Sahar, additional, Yang, Jingyun, additional, Zillikens, M. Carola, additional, Walter, Stefan, additional, Sicinski, Kamil, additional, Kague, Erika, additional, Ackert-Bicknell, Cheryl L., additional, Arking, Dan E., additional, Windham, B. Gwen, additional, Boerwinkle, Eric, additional, Grove, Megan L., additional, Graff, Misa, additional, Spira, Dominik, additional, Demuth, Ilja, additional, van der Velde, Nathalie, additional, de Groot, Lisette C. P. G. M., additional, Psaty, Bruce M., additional, Odden, Michelle C., additional, Fohner, Alison E., additional, Langenberg, Claudia, additional, Wareham, Nicholas J., additional, Bandinelli, Stefania, additional, van Schoor, Natasja M., additional, Huisman, Martijn, additional, Tan, Qihua, additional, Zmuda, Joseph, additional, Mellström, Dan, additional, Karlsson, Magnus, additional, Bennett, David A., additional, Buchman, Aron S., additional, De Jager, Philip L., additional, Uitterlinden, Andre G., additional, Völker, Uwe, additional, Kocher, Thomas, additional, Teumer, Alexander, additional, Rodriguéz-Mañas, Leocadio, additional, García, Francisco J., additional, Carnicero, José A., additional, Herd, Pamela, additional, Bertram, Lars, additional, Ohlsson, Claes, additional, Murabito, Joanne M., additional, Melzer, David, additional, Kuchel, George A., additional, Ferrucci, Luigi, additional, Karasik, David, additional, Rivadeneira, Fernando, additional, Kiel, Douglas P., additional, and Pilling, Luke C., additional

Published
2021
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26. A National Multicenter Study on overall survival in elderly metastatic castrate-resistant prostate cancer patients treated with Radium-223

Author

Frantellizzi, Viviana, primary, Monari, Fabio, additional, Mascia, Manlio, additional, Costa, Renato, additional, Rubini, Giuseppe, additional, Spanu, Angela, additional, Farcomeni, Alessio, additional, Lodi Rizzini, Elisa, additional, Cindolo, Luca, additional, Murabito, Alessandra, additional, Lavelli, Valentina, additional, Nuvoli, Susanna, additional, Cosma, Laura, additional, Dionisi, Valeria, additional, Nappi, Anna Giulia, additional, Andreola, Marco, additional, and De Vincentis, Giuseppe, additional

Published
2020
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27. Comment on: Risk of acute stroke in patients with retinal artery occlusion: a systematic review and meta-analysis

Author

Matteo, Fallico, Andrew J, Lotery, Antonio, Longo, Teresio, Avitabile, Vincenza, Bonfiglio, Andrea, Russo, Paolo, Murabito, Stefano, Palmucci, Alfredo, Pulvirenti, and Michele, Reibaldi

Subjects
medicine.medical_specialty, Retinal Artery Occlusion, business.industry, Visual Acuity, Magnetic Resonance Imaging, Cohort Studies, Stroke, Ophthalmology, Text mining, Meta-analysis, Internal medicine, Correspondence, Cardiology, Humans, Medicine, In patient, business, Acute stroke
Abstract

To estimate the incidence of acute cerebral ischaemia detected by magnetic resonance imaging (MRI) in acute central retinal artery occlusion (CRAO), branch retinal artery occlusion (BRAO) and transient monocular vision loss (TMVL).Studies reporting the incidence of acute cerebral ischaemia, detected by MRI, within 7 days from diagnosis of acute CRAO, BRAO and TMVL up to January 2019 were systematically searched for on Pubmed, Medline and Cochrane Library. Meta-analysis was performed using random effects model. The primary outcome was the pooled estimate of incidence of acute cerebral ischaemia in CRAO, BRAO and TMVL cohorts including both neurologically symptomatic and asymptomatic patients, expressed as a proportion along with 95% confidence intervals (CIs). The pooled estimate of incidence of asymptomatic acute cerebral ischaemia represented a secondary outcome measure.For the primary outcome, the pooled proportion of acute cerebral ischaemia was 0.30 (CI 0.24-0.36) in the CRAO cohort, and 0.25 (CI 0.16-0.37) in the BRAO cohort, without statistical heterogeneity. The rate of acute cerebral ischaemia was 11.8% in the TMVL cohort. For the secondary outcome, the pooled proportion of asymptomatic acute cerebral ischaemia was 0.22 (CI 0.16-0.28) in the CRAO cohort, 0.29 (CI 0.20-0.41) in the BRAO cohort and 0.08 (CI 0.05-0.15) in the TMVL cohort, with no statistical heterogeneity.30% of patients with acute CRAO and 25% of patients with acute BRAO presented an acute cerebral ischaemia on MRI. Such high rates support a care pathway of prompt referral of such patients for neurological evaluation and brain imaging.

Published
2020
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28. Comparisons of two diaphragm ultrasound-teaching programs: a multicenter randomized controlled educational study

Author

Garofalo, Eugenio, primary, Bruni, Andrea, additional, Pelaia, Corrado, additional, Landoni, Giovanni, additional, Zangrillo, Alberto, additional, Antonelli, Massimo, additional, Conti, Giorgio, additional, Biasucci, Daniele Guerino, additional, Mercurio, Giovanna, additional, Cortegiani, Andrea, additional, Giarratano, Antonino, additional, Vetrugno, Luigi, additional, Bove, Tiziana, additional, Forfori, Francesco, additional, Corradi, Francesco, additional, Vaschetto, Rosanna, additional, Cammarota, Gianmaria, additional, Astuto, Marinella, additional, Murabito, Paolo, additional, Bellini, Valentina, additional, Zambon, Massimo, additional, Longhini, Federico, additional, Navalesi, Paolo, additional, and Bignami, Elena, additional

Published
2019
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30. A meta-analysis of genome-wide association studies identifies multiple longevity genes

Author

Deelen, Joris, primary, Evans, Daniel S., additional, Arking, Dan E., additional, Tesi, Niccolò, additional, Nygaard, Marianne, additional, Liu, Xiaomin, additional, Wojczynski, Mary K., additional, Biggs, Mary L., additional, van der Spek, Ashley, additional, Atzmon, Gil, additional, Ware, Erin B., additional, Sarnowski, Chloé, additional, Smith, Albert V., additional, Seppälä, Ilkka, additional, Cordell, Heather J., additional, Dose, Janina, additional, Amin, Najaf, additional, Arnold, Alice M., additional, Ayers, Kristin L., additional, Barzilai, Nir, additional, Becker, Elizabeth J., additional, Beekman, Marian, additional, Blanché, Hélène, additional, Christensen, Kaare, additional, Christiansen, Lene, additional, Collerton, Joanna C., additional, Cubaynes, Sarah, additional, Cummings, Steven R., additional, Davies, Karen, additional, Debrabant, Birgit, additional, Deleuze, Jean-François, additional, Duncan, Rachel, additional, Faul, Jessica D., additional, Franceschi, Claudio, additional, Galan, Pilar, additional, Gudnason, Vilmundur, additional, Harris, Tamara B., additional, Huisman, Martijn, additional, Hurme, Mikko A., additional, Jagger, Carol, additional, Jansen, Iris, additional, Jylhä, Marja, additional, Kähönen, Mika, additional, Karasik, David, additional, Kardia, Sharon L. R., additional, Kingston, Andrew, additional, Kirkwood, Thomas B. L., additional, Launer, Lenore J., additional, Lehtimäki, Terho, additional, Lieb, Wolfgang, additional, Lyytikäinen, Leo-Pekka, additional, Martin-Ruiz, Carmen, additional, Min, Junxia, additional, Nebel, Almut, additional, Newman, Anne B., additional, Nie, Chao, additional, Nohr, Ellen A., additional, Orwoll, Eric S., additional, Perls, Thomas T., additional, Province, Michael A., additional, Psaty, Bruce M., additional, Raitakari, Olli T., additional, Reinders, Marcel J. T., additional, Robine, Jean-Marie, additional, Rotter, Jerome I., additional, Sebastiani, Paola, additional, Smith, Jennifer, additional, Sørensen, Thorkild I. A., additional, Taylor, Kent D., additional, Uitterlinden, André G., additional, van der Flier, Wiesje, additional, van der Lee, Sven J., additional, van Duijn, Cornelia M., additional, van Heemst, Diana, additional, Vaupel, James W., additional, Weir, David, additional, Ye, Kenny, additional, Zeng, Yi, additional, Zheng, Wanlin, additional, Holstege, Henne, additional, Kiel, Douglas P., additional, Lunetta, Kathryn L., additional, Slagboom, P. Eline, additional, and Murabito, Joanne M., additional

Published
2019
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31. GWAS of epigenetic aging rates in blood reveals a critical role for TERT

Author

Lu, Ake T., primary, Xue, Luting, additional, Salfati, Elias L., additional, Chen, Brian H., additional, Ferrucci, Luigi, additional, Levy, Daniel, additional, Joehanes, Roby, additional, Murabito, Joanne M., additional, Kiel, Douglas P., additional, Tsai, Pei-Chien, additional, Yet, Idil, additional, Bell, Jordana T., additional, Mangino, Massimo, additional, Tanaka, Toshiko, additional, McRae, Allan F., additional, Marioni, Riccardo E., additional, Visscher, Peter M., additional, Wray, Naomi R., additional, Deary, Ian J., additional, Levine, Morgan E., additional, Quach, Austin, additional, Assimes, Themistocles, additional, Tsao, Philip S., additional, Absher, Devin, additional, Stewart, James D., additional, Li, Yun, additional, Reiner, Alex P., additional, Hou, Lifang, additional, Baccarelli, Andrea A., additional, Whitsel, Eric A., additional, Aviv, Abraham, additional, Cardona, Alexia, additional, Day, Felix R., additional, Wareham, Nicholas J., additional, Perry, John R. B., additional, Ong, Ken K., additional, Raj, Kenneth, additional, Lunetta, Kathryn L., additional, and Horvath, Steve, additional

Published
2018
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32. Bone stress injuries of the leg in athletes

Author

Alessandra Murabito, A. Mileto, Michele Gaeta, Fabio Minutoli, Giorgio Ascenti, and Gianmarco Bernava

Subjects
medicine.medical_specialty, Fractures, Stress, Computed tomography, Diagnosis, Differential, Physical medicine and rehabilitation, Risk Factors, X ray computed, medicine, Humans, Radiology, Nuclear Medicine and imaging, Leg Bones, Neuroradiology, Stress fractures, medicine.diagnostic_test, biology, business.industry, Athletes, Magnetic resonance imaging, General Medicine, medicine.disease, biology.organism_classification, Magnetic Resonance Imaging, Early Diagnosis, Tomography x ray computed, Bone lesion, Athletic Injuries, Radiology, Tomography, X-Ray Computed, business, Stress injuries, Stress fractures, MR imaging, Computed tomography, Leg, Leg Injuries
Abstract

Bone stress injuries, whose incidence is increasing among competitive and recreational athletes, represent a pathophysiological continuum along which a bone responds to a changing mechanical environment. Frank stress fracture is the endpoint of this process, resulting from the accumulation of microinjuries due to repeated abnormal stresses. The legs are largely the most frequently affected bone district. The aim of this paper is to review the imaging findings of the whole spectrum of stress-induced bone lesions of the leg in athletes. We emphasise the role of computed tomography and magnetic resonance imaging, which allow recognition of early alterations.

Published
2013
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33. Association of heat shock proteins with all-cause mortality

Author

K. L. Lunetta, C.M. van Duijn, A.G. Uitterlinden, Stefania Bandinelli, Linda Broer, A. M. Arnold, Yongmei Liu, Marcus Dörr, Joanne M. Murabito, W. Hoffmann, Toshiko Tanaka, Thomas Kocher, Albert Hofman, Ellen W. Demerath, Albert V. Smith, Jerome I. Rotter, David Karasik, Bruce M. Psaty, Vilmundur Gudnason, Robert C. Kaplan, Ben A. Oostra, Kurt Lohman, Lenore J. Launer, G. J. Tranah, Luigi Ferrucci, S. Walter, H. Wallaschofski, M. E. Garcia, Nora Franceschini, Henning Tiemeier, Tamara B. Harris, Douglas P. Kiel, Gil Atzmon, G. Homuth, A.B. Newman, Epidemiology, Child and Adolescent Psychiatry / Psychology, Internal Medicine, and Clinical Genetics

Subjects
Aging, Genotype, Transcription, Genetic, Longevity, Population, Single-nucleotide polymorphism, Biology, Article, 03 medical and health sciences, Rotterdam Study, 0302 clinical medicine, Cause of Death, Heat shock protein, Humans, Promoter Regions, Genetic, education, Genotyping, Heat-Shock Proteins, Retrospective Studies, 030304 developmental biology, Aged, 80 and over, Genetics, 0303 health sciences, education.field_of_study, Heat shock proteins, General Medicine, All-cause mortality, United States, 3. Good health, Hsp70, Heat shock factor, HEAT shock factor 2, Ageing, Immunology, Geriatrics and Gerontology, 030217 neurology & neurosurgery, Forecasting
Abstract

Experimental mild heat shock is widely known as an intervention that results in extended longevity in various models along the evolutionary lineage. Heat shock proteins (HSPs) are highly upregulated immediately after a heat shock. The elevation in HSP levels was shown to inhibit stress-mediated cell death, and recent experiments indicate a highly versatile role for these proteins as inhibitors of programmed cell death. In this study, we examined common genetic variations in 31 genes encoding all members of the HSP70, small HSP, and heat shock factor (HSF) families for their association with all-cause mortality. Our discovery cohort was the Rotterdam study (RS1) containing 5,974 participants aged 55 years and older (3,174 deaths). We assessed 4,430 single nucleotide polymorphisms (SNPs) using the HumanHap550K Genotyping BeadChip from Illumina. After adjusting for multiple testing by permutation analysis, three SNPs showed evidence for association with all-cause mortality in RS1. These findings were followed in eight independent population-based cohorts, leading to a total of 25,007 participants (8,444 deaths). In the replication phase, only HSF2 (rs1416733) remained significantly associated with all-cause mortality. Rs1416733 is a known cis-eQTL for HSF2. Our findings suggest a role of HSF2 in all-cause mortality. Electronic supplementary material The online version of this article (doi:10.1007/s11357-012-9417-7) contains supplementary material, which is available to authorized users.

Published
2012
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36. Biomarkers of oxidative stress are associated with frailty: the Framingham Offspring Study

Author

Na Wang, Asya Lyass, Joanne M. Murabito, Joseph M. Massaro, Christine K. Liu, Ralph B. D'Agostino, Emelia J. Benjamin, and Martin G. Larson

Subjects
Male, 0301 basic medicine, Oncology, Aging, medicine.medical_specialty, Time Factors, Offspring, Frail Elderly, Enzyme-Linked Immunosorbent Assay, 030204 cardiovascular system & hematology, medicine.disease_cause, Article, Body Mass Index, 03 medical and health sciences, 0302 clinical medicine, Osteoprotegerin, Nephelometry and Turbidimetry, Risk Factors, Internal medicine, Odds Ratio, medicine, Humans, Prospective Studies, Aged, Framingham Risk Score, business.industry, Incidence, General Medicine, Odds ratio, Stepwise regression, United States, Oxidative Stress, Cross-Sectional Studies, 030104 developmental biology, Endocrinology, Cardiovascular Diseases, Biomarker (medicine), Female, Geriatrics and Gerontology, business, Body mass index, Biomarkers, Oxidative stress, Follow-Up Studies
Abstract

Cardiovascular disease and frailty frequently occur together. Both are associated with inflammation, which may be partially triggered by oxidative stress, especially in cardiovascular disease. We investigated whether inflammatory and oxidative stress biomarkers linked to cardiovascular disease were associated with frailty and the related outcome of gait speed. We report cross-sectional associations of biomarkers and frailty assessed at Framingham Offspring Study cycle eight. Participants ≥60 years were eligible if they had information on frailty and at least one of the following: C-reactive protein, interleukin-6, tumor necrosis factor receptor 2, 8-epi-FGFα isoprostanes (isoprostanes), lipoprotein phospholipase A2 (LpPLA2) mass or activity, osteoprotegerin, intracellular adhesion molecule-1, monocyte chemoattractant protein-1 or P-selectin. Stepwise logistic models were utilized for frailty and stepwise linear models for gait speed. Covariates included age, sex, body mass index, smoking, and co-morbidities. Odds ratios (ORs) and slope estimates (B) are reported per standard deviation increase of loge-transformed biomarker. Of the 1919 participants, 142 (7 %) were frail. In a stepwise model, frailty odds increased with higher interleukin-6 (OR 1.90, 95 % CI 1.51, 2.38), isoprostanes (OR 1.46, 95 % CI 1.12, 1.92), and LpPLA2 mass (OR 1.29, 95 % CI 1.00, 1.65). Stepwise regression found that slower gait speeds were associated with interleukin-6 (B = −0.025 m/s, 95 % CI 0.04, −0.01), isoprostanes (B = −0.019, 95 % CI −0.03, −0.008), LpPLA2 mass (B = −0.016, 95 % CI −0.03, −0.004), and osteoprotegerin (B = −0.015, 95 % CI −0.03, −0.002, all p

Published
2015
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37. Shared genetic aetiology of puberty timing between sexes and with health-related outcomes

Author

Ken K. Ong, Joyce Y. Tung, Joanne M. Murabito, Felix R. Day, John R. B. Perry, David A. Hinds, Hilary K. Finucane, Brendan Bulik-Sullivan, Day, Felix [0000-0003-3789-7651], Ong, Kenneth [0000-0003-4689-7530], Perry, John [0000-0001-6483-3771], Apollo - University of Cambridge Repository, Massachusetts Institute of Technology. Department of Mathematics, and Finucane, Hilary Kiyo

Subjects
Male, Time Factors, General Physics and Astronomy, Genome-wide association study, Disease, Type 2 diabetes, Body Mass Index, Receptors, G-Protein-Coupled, 0302 clinical medicine, Bone Density, Basic Helix-Loop-Helix Transcription Factors, Insulin, Young adult, Child, 0303 health sciences, education.field_of_study, Extracellular Matrix Proteins, Multidisciplinary, Lumbar Vertebrae, Nuclear Receptor Subfamily 1, Group F, Member 2, 3. Good health, Cardiovascular Diseases, Receptors, Leptin, Female, Polycystic Ovary Syndrome, medicine.medical_specialty, Adolescent, Population, 030209 endocrinology & metabolism, Locus (genetics), Nerve Tissue Proteins, Biology, Genetic correlation, Article, General Biochemistry, Genetics and Molecular Biology, White People, 03 medical and health sciences, Young Adult, Sex Factors, Internal medicine, medicine, Humans, Receptors, Pituitary Hormone, education, Triglycerides, 030304 developmental biology, Retinoid X Receptor alpha, Cholesterol, HDL, Puberty, General Chemistry, medicine.disease, Body Height, Radiography, Repressor Proteins, Endocrinology, Diabetes Mellitus, Type 2, Body mass index, Genome-Wide Association Study
Abstract

Understanding of the genetic regulation of puberty timing has come largely from studies of rare disorders and population-based studies in women. Here, we report the largest genomic analysis for puberty timing in 55,871 men, based on recalled age at voice breaking. Analysis across all genomic variants reveals strong genetic correlation (0.74, P=2.7 × 10[superscript −70]) between male and female puberty timing. However, some loci show sex-divergent effects, including directionally opposite effects between sexes at the SIM1/MCHR2 locus (P[subscript heterogeneity]=1.6 × 10[superscript −12]). We find five novel loci for puberty timing (P, Medical Research Council (Great Britain) (U106179472), Medical Research Council (Great Britain) (MC_U106179472), Medical Research Council (Great Britain) (U106179471), Medical Research Council (Great Britain) (MC_U106179471), National Human Genome Research Institute (U.S.) Grant R44HG006981)

Published
2015

38. Erratum: Distinct metabolomic signatures are associated with longevity in humans

Author

Paul F. Jacques, Christopher J. O'Donnell, Thomas J. Wang, Robert E. Gerszten, Jennifer E. Ho, Joanne M. Murabito, Olle Melander, Kerry A. Pierce, Susan Cheng, Eugene P. Rhee, Martin G. Larson, Kevin Bullock, Clary B. Clish, Amanda Souza, Martin Magnusson, Ramachandran S. Vasan, Elizabeth L. McCabe, Amy Deik, and Anahita Ghorbani

Subjects
Multidisciplinary, Metabolomics, media_common.quotation_subject, Published Erratum, Longevity, General Physics and Astronomy, General Chemistry, Computational biology, Biology, Aconitase, General Biochemistry, Genetics and Molecular Biology, media_common
Abstract

Nature Communications 6: Article number:6791 (2015); Published 13 April 2015; Updated 21 May 2015. In Fig. 1c,d of this Article, the y axis labels were inadvertently changed from ‘Log isocitrate’ to ‘Log aconitase’ during the production process. The correct version of Fig. 1 appears below.

Published
2015
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39. Genome-wide identification of microRNA expression quantitative trait loci

Author

Brian H. Chen, Nancy J. Cox, Paul Courchesne, Christopher J. O'Donnell, Daniel Levy, Andrew D. Johnson, Tianxiao Huan, Roby Joehanes, Jane E. Freedman, Kahraman Tanriverdi, Joanne M. Murabito, Peter J. Munson, Xiaoling Zhang, Chen Yao, Jian Rong, Martin G. Larson, and Chunyu Liu

Subjects
Adult, Male, Genotyping Techniques, Quantitative Trait Loci, General Physics and Astronomy, Genome-wide association study, Regulatory Sequences, Nucleic Acid, 030204 cardiovascular system & hematology, Biology, Polymorphism, Single Nucleotide, Genome, Article, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, 0302 clinical medicine, Gene expression, microRNA, Humans, Aged, 030304 developmental biology, Genetics, 0303 health sciences, Multidisciplinary, Reverse Transcriptase Polymerase Chain Reaction, Gene Expression Profiling, Chromosome Mapping, General Chemistry, Middle Aged, Phenotype, Gene expression profiling, MicroRNAs, Regulatory sequence, Expression quantitative trait loci, Female, Genome-Wide Association Study
Abstract

Identification of microRNA expression quantitative trait loci (miR-eQTL) can yield insights into regulatory mechanisms of microRNA transcription, and can help elucidate the role of microRNA as mediators of complex traits. Here we present a miR-eQTL mapping study of whole blood from 5,239 individuals, and identify 5,269 cis-miR-eQTLs for 76 mature microRNAs. Forty-nine per cent of cis-miR-eQTLs are located 300-500 kb upstream of their associated intergenic microRNAs, suggesting that distal regulatory elements may affect the interindividual variability in microRNA expression levels. We find that cis-miR-eQTLs are highly enriched for cis-mRNA-eQTLs and regulatory single nucleotide polymorphisms. Among 243 cis-miR-eQTLs that were reported to be associated with complex traits in prior genome-wide association studies, many cis-miR-eQTLs miRNAs display differential expression in relation to the corresponding trait (for example, rs7115089, miR-125b-5p and high-density lipoprotein cholesterol). Our study provides a roadmap for understanding the genetic basis of miRNA expression, and sheds light on miRNA involvement in a variety of complex traits.

Published
2015
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40. Gunshot to the head with brain injury: report of an attempted murder

Author

H. Seitz and M. Murabito

Subjects
medicine.medical_specialty, Unusual case, Perioperative management, business.industry, Glasgow Outcome Scale, Glasgow Coma Scale, Vascular surgery, medicine.disease, Cardiac surgery, Surgery, Anesthesia, medicine, Gunshot wound, business, Abdominal surgery
Abstract

BACKGROUND: We present an interesting and unusual case of a gunshot wound to the head with severe brain injury. The patient survived and presented only minor neurological deficits upon discharge. METHODS: An early and aggressive surgical and perioperative management. RESULTS: Our patient confirms that the outcome as measured by the Glasgow Outcome Scale strongly correlates with the condition upon admission, as determined by the Glasgow Coma Scale. CONCLUSIONS: Intracranial gunshot wounds need to be rapidly and thoroughly evaluated in a rational and systematic manner to minimize mortality and long-term morbidity.

Published
2004
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41. In IGF-I receptor-deficient leiomyosarcoma cells autocrine IGF-II induces cell invasion and protection from apoptosis via the insulin receptor isoform A

Author

Antonella Murabito, Antonino Belfiore, Giuseppe Pandini, Laura Sciacca, Rossana Mineo, and Riccardo Vigneri

Subjects
Leiomyosarcoma, MAPK/ERK pathway, Cancer Research, medicine.medical_specialty, sarcoma, medicine.medical_treatment, Apoptosis, Enzyme-Linked Immunosorbent Assay, Protein Serine-Threonine Kinases, Receptor, IGF Type 1, Viral Proteins, Antigens, CD, Insulin-Like Growth Factor II, Proto-Oncogene Proteins, Internal medicine, Tumor Cells, Cultured, Genetics, medicine, RNA, Messenger, Phosphorylation, IGF, IGF system, Insulin receptor, Isoform IR-A, sarcoma, IGF, Isoform IR-A, Autocrine signalling, Molecular Biology, PI3K/AKT/mTOR pathway, DNA Primers, Base Sequence, biology, Insulin, Cell migration, IGF system, Receptor, Insulin, Cell biology, Insulin receptor, Endocrinology, Cell culture, biology.protein, Signal transduction, Proto-Oncogene Proteins c-akt, Signal Transduction
Abstract

One of the two isoforms of the human insulin receptor (isoform A or IR-A) binds IGF-II with high affinity and is predominantly expressed in fetal tissues and malignant cells. We evaluated the biological relevance of IR-A in human myosarcoma cells. Six myosarcoma cell lines were studied. All produced high amounts of IGF-II and five of them predominantly expressed IR-A. SKUT-1 leiomyosarcoma cells, that do not express the IGF-IR, were identified as a suitable model to study the effects of IR-A in the absence of the interference of IGF-IR. In these cells, which express high levels of IR with an IR-A relative abundance of approximately 95%, IGF-II elicits biological effects exclusively via IR-A activation and IGF-I is almost ineffective. Blockade of autocrine IGF-II reduced unstimulated cell viability and migration. Although both insulin and IGF-II activate IR-A, these two ligands showed a different ability to activate different intracellular signaling pathways and to elicit different biological effects. Insulin was more potent than IGF-II in activating the PI3-K/Akt pathway and in protecting cells from apoptosis. In contrast, IGF-II was more potent than insulin in activating the Shc/ERK pathway and in stimulating cell migration. These data indicate that IGF-II sensitive IR-A is the predominant IR isoform in a variety of myosarcoma cells. In SKUT-1 leiomyoma cells this fetal IR isoform may vicariate the IGF-IR for cell response to both insulin and IGF-II. Acting on the same IR-A receptor IGF-II is more potent than insulin in stimulating cancer cell migration.

Published
2002
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42. Elective laparoscopic cholecystectomy

Author

Rosario, Vecchio, Cacciola, Emma, MARCELLO DI MARTINO, Antonio, V, Gambelunghe, Murabito, Paolo, and Cacciola, Rossella Rosaria

Subjects
medicine.medical_specialty, medicine.diagnostic_test, business.industry, Gallbladder, General surgery, medicine.medical_treatment, Gallbladder Stone, Hepatology, medicine.disease, Sickle cell anemia, Surgery, medicine.anatomical_structure, Internal medicine, Medicine, Cholecystectomy, business, Complication, Laparoscopy, Abdominal surgery
Abstract

Background Gallbladder stones are very common in patients with sickle cell disease and are the cause of recurrent abdominal pain. Their management has been highly controversial, especially for children. Nonoperated patients and those treated on an emergency basis have a very high rate of morbidity (>50%).

Published
2001
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44. New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk

Author

Lu, Yingchang, primary, Day, Felix R., additional, Gustafsson, Stefan, additional, Buchkovich, Martin L., additional, Na, Jianbo, additional, Bataille, Veronique, additional, Cousminer, Diana L., additional, Dastani, Zari, additional, Drong, Alexander W., additional, Esko, Tõnu, additional, Evans, David M., additional, Falchi, Mario, additional, Feitosa, Mary F., additional, Ferreira, Teresa, additional, Hedman, Åsa K., additional, Haring, Robin, additional, Hysi, Pirro G., additional, Iles, Mark M., additional, Justice, Anne E., additional, Kanoni, Stavroula, additional, Lagou, Vasiliki, additional, Li, Rui, additional, Li, Xin, additional, Locke, Adam, additional, Lu, Chen, additional, Mägi, Reedik, additional, Perry, John R. B., additional, Pers, Tune H., additional, Qi, Qibin, additional, Sanna, Marianna, additional, Schmidt, Ellen M., additional, Scott, William R., additional, Shungin, Dmitry, additional, Teumer, Alexander, additional, Vinkhuyzen, Anna A. E., additional, Walker, Ryan W., additional, Westra, Harm-Jan, additional, Zhang, Mingfeng, additional, Zhang, Weihua, additional, Zhao, Jing Hua, additional, Zhu, Zhihong, additional, Afzal, Uzma, additional, Ahluwalia, Tarunveer Singh, additional, Bakker, Stephan J. L., additional, Bellis, Claire, additional, Bonnefond, Amélie, additional, Borodulin, Katja, additional, Buchman, Aron S., additional, Cederholm, Tommy, additional, Choh, Audrey C., additional, Choi, Hyung Jin, additional, Curran, Joanne E., additional, de Groot, Lisette C. P. G. M., additional, De Jager, Philip L., additional, Dhonukshe-Rutten, Rosalie A. M., additional, Enneman, Anke W., additional, Eury, Elodie, additional, Evans, Daniel S., additional, Forsen, Tom, additional, Friedrich, Nele, additional, Fumeron, Frédéric, additional, Garcia, Melissa E., additional, Gärtner, Simone, additional, Han, Bok-Ghee, additional, Havulinna, Aki S., additional, Hayward, Caroline, additional, Hernandez, Dena, additional, Hillege, Hans, additional, Ittermann, Till, additional, Kent, Jack W., additional, Kolcic, Ivana, additional, Laatikainen, Tiina, additional, Lahti, Jari, additional, Leach, Irene Mateo, additional, Lee, Christine G., additional, Lee, Jong-Young, additional, Liu, Tian, additional, Liu, Youfang, additional, Lobbens, Stéphane, additional, Loh, Marie, additional, Lyytikäinen, Leo-Pekka, additional, Medina-Gomez, Carolina, additional, Michaëlsson, Karl, additional, Nalls, Mike A., additional, Nielson, Carrie M., additional, Oozageer, Laticia, additional, Pascoe, Laura, additional, Paternoster, Lavinia, additional, Polašek, Ozren, additional, Ripatti, Samuli, additional, Sarzynski, Mark A., additional, Shin, Chan Soo, additional, Narančić, Nina Smolej, additional, Spira, Dominik, additional, Srikanth, Priya, additional, Steinhagen-Thiessen, Elisabeth, additional, Sung, Yun Ju, additional, Swart, Karin M. A., additional, Taittonen, Leena, additional, Tanaka, Toshiko, additional, Tikkanen, Emmi, additional, van der Velde, Nathalie, additional, van Schoor, Natasja M., additional, Verweij, Niek, additional, Wright, Alan F., additional, Yu, Lei, additional, Zmuda, Joseph M., additional, Eklund, Niina, additional, Forrester, Terrence, additional, Grarup, Niels, additional, Jackson, Anne U., additional, Kristiansson, Kati, additional, Kuulasmaa, Teemu, additional, Kuusisto, Johanna, additional, Lichtner, Peter, additional, Luan, Jian'an, additional, Mahajan, Anubha, additional, Männistö, Satu, additional, Palmer, Cameron D., additional, Ried, Janina S., additional, Scott, Robert A., additional, Stancáková, Alena, additional, Wagner, Peter J., additional, Demirkan, Ayse, additional, Döring, Angela, additional, Gudnason, Vilmundur, additional, Kiel, Douglas P., additional, Kühnel, Brigitte, additional, Mangino, Massimo, additional, Mcknight, Barbara, additional, Menni, Cristina, additional, O'Connell, Jeffrey R., additional, Oostra, Ben A., additional, Shuldiner, Alan R., additional, Song, Kijoung, additional, Vandenput, Liesbeth, additional, van Duijn, Cornelia M., additional, Vollenweider, Peter, additional, White, Charles C., additional, Boehnke, Michael, additional, Boettcher, Yvonne, additional, Cooper, Richard S., additional, Forouhi, Nita G., additional, Gieger, Christian, additional, Grallert, Harald, additional, Hingorani, Aroon, additional, Jørgensen, Torben, additional, Jousilahti, Pekka, additional, Kivimaki, Mika, additional, Kumari, Meena, additional, Laakso, Markku, additional, Langenberg, Claudia, additional, Linneberg, Allan, additional, Luke, Amy, additional, Mckenzie, Colin A., additional, Palotie, Aarno, additional, Pedersen, Oluf, additional, Peters, Annette, additional, Strauch, Konstantin, additional, Tayo, Bamidele O., additional, Wareham, Nicholas J., additional, Bennett, David A., additional, Bertram, Lars, additional, Blangero, John, additional, Blüher, Matthias, additional, Bouchard, Claude, additional, Campbell, Harry, additional, Cho, Nam H., additional, Cummings, Steven R., additional, Czerwinski, Stefan A., additional, Demuth, Ilja, additional, Eckardt, Rahel, additional, Eriksson, Johan G., additional, Ferrucci, Luigi, additional, Franco, Oscar H., additional, Froguel, Philippe, additional, Gansevoort, Ron T., additional, Hansen, Torben, additional, Harris, Tamara B., additional, Hastie, Nicholas, additional, Heliövaara, Markku, additional, Hofman, Albert, additional, Jordan, Joanne M., additional, Jula, Antti, additional, Kähönen, Mika, additional, Kajantie, Eero, additional, Knekt, Paul B., additional, Koskinen, Seppo, additional, Kovacs, Peter, additional, Lehtimäki, Terho, additional, Lind, Lars, additional, Liu, Yongmei, additional, Orwoll, Eric S., additional, Osmond, Clive, additional, Perola, Markus, additional, Pérusse, Louis, additional, Raitakari, Olli T., additional, Rankinen, Tuomo, additional, Rao, D. C., additional, Rice, Treva K., additional, Rivadeneira, Fernando, additional, Rudan, Igor, additional, Salomaa, Veikko, additional, Sørensen, Thorkild I. A., additional, Stumvoll, Michael, additional, Tönjes, Anke, additional, Towne, Bradford, additional, Tranah, Gregory J., additional, Tremblay, Angelo, additional, Uitterlinden, André G., additional, van der Harst, Pim, additional, Vartiainen, Erkki, additional, Viikari, Jorma S., additional, Vitart, Veronique, additional, Vohl, Marie-Claude, additional, Völzke, Henry, additional, Walker, Mark, additional, Wallaschofski, Henri, additional, Wild, Sarah, additional, Wilson, James F., additional, Yengo, Loïc, additional, Bishop, D. Timothy, additional, Borecki, Ingrid B., additional, Chambers, John C., additional, Cupples, L. Adrienne, additional, Dehghan, Abbas, additional, Deloukas, Panos, additional, Fatemifar, Ghazaleh, additional, Fox, Caroline, additional, Furey, Terrence S., additional, Franke, Lude, additional, Han, Jiali, additional, Hunter, David J., additional, Karjalainen, Juha, additional, Karpe, Fredrik, additional, Kaplan, Robert C., additional, Kooner, Jaspal S., additional, McCarthy, Mark I., additional, Murabito, Joanne M., additional, Morris, Andrew P., additional, Bishop, Julia A. N., additional, North, Kari E., additional, Ohlsson, Claes, additional, Ong, Ken K., additional, Prokopenko, Inga, additional, Richards, J. Brent, additional, Schadt, Eric E., additional, Spector, Tim D., additional, Widén, Elisabeth, additional, Willer, Cristen J., additional, Yang, Jian, additional, Ingelsson, Erik, additional, Mohlke, Karen L., additional, Hirschhorn, Joel N., additional, Pospisilik, John Andrew, additional, Zillikens, M. Carola, additional, Lindgren, Cecilia, additional, Kilpeläinen, Tuomas Oskari, additional, and Loos, Ruth J. F., additional

Published
2016
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45. Signifikante Verlängerung des Überlebens durch komplette Resektion isolierter Lungenmetastasen nach Mammacarcinom

Author

A M Groeger, Michael Rolf Müller, A. Staffen, M. Murabito, and Andreas Salat

Subjects
Gynecology, medicine.medical_specialty, Transplant surgery, business.industry, medicine, Surgery, business
Abstract

Zumindest ein Viertel aller Patienten mit Mammacarcinom kommen in ein metastasierendes Stadium. Ungeachtet der laufenden Adaptierung palliativer Therapiemodalitaten blieb das mittlere Uberleben in diesem Stadium innerhalb von 25 Jahren unverandert (19–32 Monate nach Diagnose), und 95 % dieser Patientinnen starben an der Generalisierung des Malignoms. Das erste Therapieziel mus deshalb Schaffung und Erhaltung von Lebensqualitat sein. Daneben hat sich die chirurgische Entfernung isolierter Lungenmetastasen nach anderen Malignomen als therapeutisches Konzept durchgesetzt. Berichtet wird von 3 epidemiologisch vergleichbaren Kollektiven aus insgesamt 125 Patientinnen unserer Abteilung mit isolierten Lungenmetastasen nach Mammacarcinom (Beobachtungszeitraum 1977–1997). Von 96 Patientinnen waren komplette Datensatze erhebbar, sodas sie retrospektiv entsprechend der chirurgischen Therapie in 3 Gruppen stratifiziert werden konnten. 28 Patientinnen wurden komplett (K), 34 inkomplett (I) und 34 nicht (N) reseziert. Der Vergleich der 3 Therapiegruppen N, K und I untereinander hinsichtlich Tumorstadium, Histologie und Receptorstatus des Primartumors, Anzahl der Metastasen und des tumorfreien Intervalls ergab keine statistisch signifikanten Unterschiede. Das mittlere Uberleben der Gruppe K war mit 79 Monaten nach Resektion der Lungenmetastasen (5-Jahres-Uberleben 80 %, 10-Jahres-Uberleben 60 %) signifikant besser im Vergleich zu den Gruppen I und N (p

Published
1998
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47. Correction: Corrigendum: Rare coding variants and X-linked loci associated with age at menarche

Author

Lunetta, Kathryn L., primary, Day, Felix R., additional, Sulem, Patrick, additional, Ruth, Katherine S., additional, Tung, Joyce Y., additional, Hinds, David A., additional, Esko, Tõnu, additional, Elks, Cathy E., additional, Altmaier, Elisabeth, additional, He, Chunyan, additional, Huffman, Jennifer E., additional, Mihailov, Evelin, additional, Porcu, Eleonora, additional, Robino, Antonietta, additional, Rose, Lynda M., additional, Schick, Ursula M., additional, Stolk, Lisette, additional, Teumer, Alexander, additional, Thompson, Deborah J., additional, Traglia, Michela, additional, Wang, Carol A., additional, Yerges-Armstrong, Laura M., additional, Antoniou, Antonis C., additional, Barbieri, Caterina, additional, Coviello, Andrea D., additional, Cucca, Francesco, additional, Demerath, Ellen W., additional, Dunning, Alison M., additional, Gandin, Ilaria, additional, Grove, Megan L., additional, Gudbjartsson, Daniel F., additional, Hocking, Lynne J., additional, Hofman, Albert, additional, Huang, Jinyan, additional, Jackson, Rebecca D., additional, Karasik, David, additional, Kriebel, Jennifer, additional, Lange, Ethan M., additional, Lange, Leslie A., additional, Langenberg, Claudia, additional, Li, Xin, additional, Luan, Jian'an, additional, Mägi, Reedik, additional, Morrison, Alanna C., additional, Padmanabhan, Sandosh, additional, Pirie, Ailith, additional, Polasek, Ozren, additional, Porteous, David, additional, Reiner, Alex P., additional, Rivadeneira, Fernando, additional, Rudan, Igor, additional, Sala, Cinzia F., additional, Schlessinger, David, additional, Scott, Robert A., additional, Stöckl, Doris, additional, Visser, Jenny A., additional, Völker, Uwe, additional, Vozzi, Diego, additional, Wilson, James G., additional, Zygmunt, Marek, additional, Boerwinkle, Eric, additional, Buring, Julie E., additional, Crisponi, Laura, additional, Easton, Douglas F., additional, Hayward, Caroline, additional, Hu, Frank B., additional, Liu, Simin, additional, Metspalu, Andres, additional, Pennell, Craig E., additional, Ridker, Paul M., additional, Strauch, Konstantin, additional, Streeten, Elizabeth A., additional, Toniolo, Daniela, additional, Uitterlinden, André G., additional, Ulivi, Sheila, additional, Völzke, Henry, additional, Wareham, Nicholas J., additional, Wellons, Melissa, additional, Franceschini, Nora, additional, Chasman, Daniel I., additional, Thorsteinsdottir, Unnur, additional, Murray, Anna, additional, Stefansson, Kari, additional, Murabito, Joanne M., additional, Ong, Ken K., additional, and Perry, John R. B., additional

Published
2015
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49. Erratum: Distinct metabolomic signatures are associated with longevity in humans

Author

Cheng, Susan, primary, Larson, Martin G., additional, McCabe, Elizabeth L., additional, Murabito, Joanne M., additional, Rhee, Eugene P., additional, Ho, Jennifer E., additional, Jacques, Paul F., additional, Ghorbani, Anahita, additional, Magnusson, Martin, additional, Souza, Amanda L., additional, Deik, Amy A., additional, Pierce, Kerry A., additional, Bullock, Kevin, additional, O’Donnell, Christopher J., additional, Melander, Olle, additional, Clish, Clary B., additional, Vasan, Ramachandran S., additional, Gerszten, Robert E., additional, and Wang, Thomas J., additional

Published
2015
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50. Distinct metabolomic signatures are associated with longevity in humans

Author

Cheng, Susan, primary, Larson, Martin G., additional, McCabe, Elizabeth L., additional, Murabito, Joanne M., additional, Rhee, Eugene P., additional, Ho, Jennifer E., additional, Jacques, Paul F., additional, Ghorbani, Anahita, additional, Magnusson, Martin, additional, Souza, Amanda L., additional, Deik, Amy A., additional, Pierce, Kerry A., additional, Bullock, Kevin, additional, O’Donnell, Christopher J., additional, Melander, Olle, additional, Clish, Clary B., additional, Vasan, Ramachandran S., additional, Gerszten, Robert E., additional, and Wang, Thomas J., additional

Published
2015
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