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https://www.readbyqxmd.com/read/28523560/stem-cell-technology-for-epi-genetic-brain-disorders
#1
Renzo J M Riemens, Edilene S Soares, Manel Esteller, Raul Delgado-Morales
Despite the enormous efforts of the scientific community over the years, effective therapeutics for many (epi)genetic brain disorders remain unidentified. The common and persistent failures to translate preclinical findings into clinical success are partially attributed to the limited efficiency of current disease models. Although animal and cellular models have substantially improved our knowledge of the pathological processes involved in these disorders, human brain research has generally been hampered by a lack of satisfactory humanized model systems...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28517110/outcome-after-medical-and-surgical-intervention-in-horses-with-temporohyoid-osteoarthropathy
#2
P M Espinosa, J E Nieto, K E Estell, P H Kass, M Aleman
BACKGROUND: Temporohyoid osteoarthropathy (THO) is a cause of neurological disease in horses characterised by facial and vestibulocochlear nerve deficits. Studies reporting and comparing survival following medical or surgical treatment of THO are lacking. OBJECTIVES: To compare survival and prognosis of horses with THO treated medically or surgically; and to report surgical complications. STUDY DESIGN: Retrospective. METHODS: Medical records of horses diagnosed with THO were retrieved, and signalment, clinical signs and duration, presence of corneal ulceration and bilateral occurrence were recorded...
May 18, 2017: Equine Veterinary Journal
https://www.readbyqxmd.com/read/28508402/risk-factors-for-human-immunodeficiency-virus-among-blood-donors-in-cameroon-evidence-for-the-design-of-an-africa-specific-donor-history-questionnaire
#3
Claude T Tagny, Georges Nguefack-Tsague, Diderot Fopa, Celestin Ashu, Estel Tante, Pauline Ngo Balogog, Olivier Donfack, Dora Mbanya, Syria Laperche, Edward Murphy
BACKGROUND: In sub-Saharan Africa improving the deferral of at-risk blood donors would be a cost-effective approach to reducing transfusion-transmitted human immunodeficiency virus (HIV) infections. We performed a pilot case-control study to identify the risk factors for HIV infection and to develop an adapted donor history questionnaire (DHQ) for sub-Saharan Africa. STUDY DESIGN AND METHODS: We recruited 137 HIV-positive donors (cases) and 256 HIV-negative donors (controls) and gathered risk factor data using audio computer-assisted self-interview...
May 15, 2017: Transfusion
https://www.readbyqxmd.com/read/28494874/molecular-subtype-specific-biomarkers-improve-prediction-of-prognosis-in-colorectal-cancer
#4
Jesper Bertram Bramsen, Mads Heilskov Rasmussen, Halit Ongen, Trine Block Mattesen, Mai-Britt Worm Ørntoft, Sigrid Salling Árnadóttir, Juan Sandoval, Teresa Laguna, Søren Vang, Bodil Øster, Philippe Lamy, Mogens Rørbæk Madsen, Søren Laurberg, Manel Esteller, Emmanouil Theophilos Dermitzakis, Torben Falck Ørntoft, Claus Lindbjerg Andersen
Colorectal cancer (CRC) is characterized by major inter-tumor diversity that complicates the prediction of disease and treatment outcomes. Recent efforts help resolve this by sub-classification of CRC into natural molecular subtypes; however, this strategy is not yet able to provide clinicians with improved tools for decision making. We here present an extended framework for CRC stratification that specifically aims to improve patient prognostication. Using transcriptional profiles from 1,100 CRCs, including >300 previously unpublished samples, we identify cancer cell and tumor archetypes and suggest the tumor microenvironment as a major prognostic determinant that can be influenced by the microbiome...
May 9, 2017: Cell Reports
https://www.readbyqxmd.com/read/28492093/higher-prevalence-of-cerebral-white-matter-hyperintensities-in-homozygous-apoe-%C3%A9-4-allele-carriers-aged-45-75-results-from-the-alfa-study
#5
Santiago Rojas, Anna Brugulat-Serrat, Nuria Bargalló, Carolina Minguillón, Alan Tucholka, Carles Falcon, Andreia Carvalho, Sebastian Morán, Manel Esteller, Nina Gramunt, Karine Fauria, Jordi Camí, José L Molinuevo, Juan D Gispert
Cerebral white matter hyperintensities are believed the consequence of small vessel disease and are associated with risk and progression of Alzheimer's disease. The ɛ4 allele of the APOE gene is the major factor accountable for Alzheimer's disease heritability. However, the relationship between white matter hyperintensities and APOE genotype in healthy subjects remains controversial. We investigated the association between APOE-ɛ4 and vascular risk factors with white matter hyperintensities, and explored their interactions, in a cohort of cognitively healthy adults (45-75 years)...
January 1, 2017: Journal of Cerebral Blood Flow and Metabolism
https://www.readbyqxmd.com/read/28476014/advanced-paternal-age-is-associated-with-earlier-schizophrenia-onset-in-offspring-results-from-the-national-multicentric-face-sz-cohort
#6
Guillaume Fond, Ophélia Godin, Laurent Boyer, Pierre-Michel Llorca, Meja Andrianarisoa, Lore Brunel, Bruno Aouizerate, Fabrice Berna, Delphine Capdevielle, Thierry D'Amato, Hélène Denizot, Caroline Dubertret, Julien Dubreucq, Catherine Faget, Franck Gabayet, Jasmina Mallet, David Misdrahi, Christine Passerieux, Romain Rey, Raphaelle Richieri, Aurélie Schandrin, Mathieu Urbach, Pierre Vidailhet, Marion Leboyer, Ewa Bulzacka, Franck Schürhoff, Meja Andrianarisoa, Bruno Aouizerate, Fabrice Berna, Olivier Blanc, Lore Brunel, Ewa Bulzacka, Delphine Capdevielle, Isabelle Chereau-Boudet, Géraldine Chesnoy-Servanin, Jean-Michel Danion, Thierry D'Amato, Arnaud Deloge, Céline Delorme, Hélène Denizot, Jean-Michel Dorey, Caroline Dubertret, Julien Dubreucq, Catherine Faget, Cécile Fluttaz, Guillaume Fond, Sophie Fonteneau, Franck Gabayet, Elisabeth Giraud-Baro, Marie-Christine Hardy-Bayle, Lacelle Delphine, Christophe Lançon, Hakim Laouamri, Marion Leboyer, Tifenn Le Gloahec, Yann Le Strat, Pierre-Michel Llorca, Jasmina Mallet, Emeline Metairie, David Misdrahi, Isabelle Offerlin-Meyer, Christine Passerieux, Pauline Peri, Sylvie Pires, Céline Portalier, Romain Rey, Céline Roman, Aurélie Schandrin, Franck Schürhoff, Arnaud Tessier, Anne-Marie Tronche, Mathieu Urbach, Florence Vaillant, Aurélie Vehier, Pierre Vidailhet, Estel Vilà, Hanan Yazbek, Anna Zinetti-Bertschy
The association between advanced paternal age (APA) and increased risk of schizophrenia (SZ) is well established. The objectives of the present study were to further determine if SZ participants with APA (APA+), versus those without (APA-), had: (i) different illness characteristics; (ii) different responses to antipsychotic medication; and (iii) different cognitive characteristics. Participants were a non-selected representative multicentric sample of stabilized community-dwelling people diagnosed with SZ included in the FACE-SZ cohort...
April 12, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/28471259/epidemiology-of-systemic-lupus-erythematosus
#7
Guillermo J Pons-Estel, Manuel F Ugarte-Gil, Graciela S Alarcón
Systemic lupus erythematosus (SLE) is a disease distributed worldwide, which occurs in both genders, and across racial/ethnic and age groups; however, higher rates are observed in adults, in women and in non-Caucasians. Genetic, environmental, sociodemographic and methodological issues are responsible not only for these differences but for the variable course and outcome of the disease. Non-Caucasians have a more severe disease with a higher risk for early mortality and damage accrual. Males also have a more severe disease; however, a negative impact of male gender on lupus outcomes has not been firmly established...
May 4, 2017: Expert Review of Clinical Immunology
https://www.readbyqxmd.com/read/28457887/resistance-to-taxanes-in-triple-negative-breast-cancer-associates-with-the-dynamics-of-a-cd49f-tumor-initiating-population
#8
Jorge Gómez-Miragaya, Marta Palafox, Laia Paré, Guillermo Yoldi, Irene Ferrer, Sergi Vila, Patricia Galván, Pasquale Pellegrini, Hector Pérez-Montoyo, Ana Igea, Purificación Muñoz, Manel Esteller, Angel R Nebreda, Ander Urruticoechea, Idoia Morilla, Sonia Pernas, Fina Climent, María Teresa Soler-Monso, Ana Petit, Violeta Serra, Aleix Prat, Eva González-Suárez
Taxanes are a mainstay of treatment for breast cancer, but resistance often develops followed by metastatic disease and mortality. Aiming to reveal the mechanisms underlying taxane resistance, we used breast cancer patient-derived orthoxenografts (PDX). Mimicking clinical behavior, triple-negative breast tumors (TNBCs) from PDX models were more sensitive to docetaxel than luminal tumors, but they progressively acquired resistance upon continuous drug administration. Mechanistically, we found that a CD49f+ chemoresistant population with tumor-initiating ability is present in sensitive tumors and expands during the acquisition of drug resistance...
May 9, 2017: Stem Cell Reports
https://www.readbyqxmd.com/read/28442560/obesity-and-menopause-modify-the-epigenomic-profile-of-breast-cancer
#9
Ana B Crujeiras, Angel Díaz-Lagares, Olafur A Stefansson, Manuel Macias, Juan Sandoval, Juan Cueva, Rafael López-López, Sebastian Moran, Jon G Jonasson, Laufey Tryggvadottir, Elinborg Olafsdottir, Francisco J Tinahones, Marcos C Carreira, Felipe F Casanueva, Manel Esteller
Obesity is a high risk factor for breast cancer. This relationship could be marked by a specific methylome. The current work was aimed to explore the impact of obesity and menopausal status on variation in breast cancer methylomes. Data from Infinium 450K array-based methylomes of 64 breast tumor were coupled with information on BMI and menopausal status. Additionally, DNA methylation results were validated in 18 non-tumor and 81 tumor breast samples. Breast tumors arising in either pre- or postmenopausal women stratified by BMI or menopausal status alone were not associated with a specific DNA methylation pattern...
April 25, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28420071/pleuropulmonary-involvement-in-patients-with-systemic-lupus-erythematosus-from-a-latin-american-inception-cohort-gladel
#10
M J Haye Salinas, F Caeiro, V Saurit, A Alvarellos, D Wojdyla, H R Scherbarth, A C de O E Silva, J C Tavares Brenol, L T Lavras Costallat, O J Neira, A Iglesias Gamarra, G Vásquez, G A Reyes Llerena, L A Barile-Fabris, L H Silveira, M J Sauza Del Pozo, E M Acevedo Vásquez, J L Alfaro Lozano, M H Esteva Spinetti, G S Alarcón, B A Pons-Estel
Objectives The objectives of this study were to examine the demographic and clinical features associated with the occurrence of pleuropulmonary manifestations, the predictive factors of their occurrence and their impact on mortality in systemic lupus erythematosus (SLE) patients. Materials and methods The association of pleuropulmonary manifestations with demographic and clinical features, the predictive factors of their occurrence and their impact on mortality were examined in GLADEL patients by appropriate univariable and multivariable analyses...
January 1, 2017: Lupus
https://www.readbyqxmd.com/read/28396363/genomic-and-molecular-screenings-identify-different-mechanisms-for-acquired-resistance-to-met-inhibitors-in-lung-cancer-cells
#11
Pol Gimenez-Xavier, Eva Pros, Ester Bonastre, Sebastian Moran, Ana Aza, Osvaldo Graña, Gonzalo Gómez-López, Sophia Derdak, Marc Dabad, Anna Esteve-Codina, Jose R Hernandez Mora, Diana Salinas-Chaparro, Manel Esteller, David Pisano, Montse Sanchez-Cespedes
The development of resistance to tyrosine kinase inhibitors (TKIs) limits the long-term efficacy of cancer treatments involving them. We aimed to understand the mechanisms that underlie acquired resistance (AR) to MET inhibitors in lung cancer. EBC1 cells, which have MET amplification and are sensitive to TKIs against MET, were used to generate multiple clones with AR to a MET-TKI. Whole-exome sequencing, RNA sequencing and global DNA methylation analysis were used to scrutinize the genetic and molecular characteristics of the resistant cells...
April 10, 2017: Molecular Cancer Therapeutics
https://www.readbyqxmd.com/read/28370075/cancer-incidence-after-initiation-of-antimuscarinic-medications-for-overactive-bladder-in-the-united-kingdom-evidence-for-protopathic-bias
#12
James A Kaye, Andrea V Margulis, Joan Fortuny, Lisa J McQuay, Estel Plana, Jennifer L Bartsch, Christine L Bui, Susana Perez-Gutthann, Alejandro Arana
STUDY OBJECTIVE: To estimate the incidence of 10 common cancers among patients treated with antimuscarinic medications for overactive bladder (AMOAB). DESIGN: Retrospective cohort study. DATA SOURCE: United Kingdom's Clinical Practice Research Datalink. PATIENTS: A total of 119,912 adults with no previous cancer diagnosis who were new users of AMOABs-darifenacin, fesoterodine, oxybutynin, solifenacin, tolterodine, or trospium-between January 2004 and December 2012...
March 31, 2017: Pharmacotherapy
https://www.readbyqxmd.com/read/28345661/stepwise-analysis-of-mir9-loci-identifies-mir-9-5p-to-be-involved-in-oestrogen-regulated-pathways-in-breast-cancer-patients
#13
Raffaela Barbano, Barbara Pasculli, Michelina Rendina, Andrea Fontana, Caterina Fusilli, Massimiliano Copetti, Stefano Castellana, Vanna Maria Valori, Maria Morritti, Paolo Graziano, Ciuffreda Luigi, Michelina Coco, Francesco Picardo, Tommaso Mazza, Ella Evron, Roberto Murgo, Evaristo Maiello, Manel Esteller, Vito Michele Fazio, Paola Parrella
miR-9 was initially identified as an epigenetically regulated miRNA in tumours, but inconsistent findings have been reported so far. We analysed the expression of miR-9-5p, miR-9-3p, pri-miRs and MIR9 promoters methylation status in 131 breast cancer cases and 12 normal breast tissues (NBTs). The expression of both mature miRs was increased in tumours as compared to NBTs (P < 0.001) and negatively correlated with ER protein expression (P = 0.005 and P = 0.003, for miR-9-3p and miR-9-5p respectively)...
March 27, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28344317/epigenetic-loss-of-the-rna-decapping-enzyme-nudt16-mediates-c-myc-activation-in-t-cell-acute-lymphoblastic-leukemia
#14
C Anadón, G van Tetering, H J Ferreira, C Moutinho, A Martínez-Cardús, A Villanueva, M Soler, H Heyn, S Moran, M C de Moura, F Setien, A Vidal, E Genescà, J-M Ribera, J F Nomdedeu, S Guil, M Esteller
Leukemia accepted article preview online, 27 March 2017. doi:10.1038/leu.2017.99.
March 27, 2017: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/28331894/wetland-monitoring-with-global-navigation-satellite-system-reflectometry
#15
Son V Nghiem, Cinzia Zuffada, Rashmi Shah, Clara Chew, Stephen T Lowe, Anthony J Mannucci, Estel Cardellach, G Robert Brakenridge, Gary Geller, Ake Rosenqvist
Information about wetland dynamics remains a major missing gap in characterizing, understanding, and projecting changes in atmospheric methane and terrestrial water storage. A review of current satellite methods to delineate and monitor wetland change shows some recent advances, but much improved sensing technologies are still needed for wetland mapping, not only to provide more accurate global inventories but also to examine changes spanning multiple decades. Global Navigation Satellite Systems Reflectometry (GNSS-R) signatures from aircraft over the Ebro River Delta in Spain and satellite measurements over the Mississippi River and adjacent watersheds demonstrate that inundated wetlands can be identified under different vegetation conditions including a dense rice canopy and a thick forest with tall trees, where optical sensors and monostatic radars provide limited capabilities...
January 2017: Earth and Space Science (Hoboken, N.J.)
https://www.readbyqxmd.com/read/28320778/the-epitranscriptome-of-noncoding-rnas-in-cancer
#16
REVIEW
Manel Esteller, Pier Paolo Pandolfi
The activity of RNA is controlled by different types of post-transcriptional modifications, such as the addition of methyl groups and other chemical and structural changes, that have been recently described in human cells by high-throughput sequencing. Herein, we will discuss how the so-called epitranscriptome is disrupted in cancer and what the contribution of its writers, readers, and erasers to the process of cellular transformation is, particularly focusing on the epigenetic modifications of ncRNAs.Significance: Chemical modifications of RNA play a central role in the control of messenger and ncRNA activity and, thus, are tightly regulated in cells...
April 2017: Cancer Discovery
https://www.readbyqxmd.com/read/28291583/factors-predictive-of-high-disease-activity-early-in-the-course-of-sle-in-patients-from-a-latin-american-cohort
#17
Victor R Pimentel-Quiroz, Manuel F Ugarte-Gil, Guillermo J Pons-Estel, Enrique R Soriano, Verónica Saurit, Emilia I Sato, Lilian T Lavras Costallat, José Fernando Molina, Antonio Iglesias-Gamarra, Gil Reyes-Llerena, Oscar J Neira, Leonor A Barile, Luis H Silveira, María Ines Segami, Rosa Chacón-Díaz, Daniel Wojdyla, Graciela S Alarcón, Bernardo A Pons-Estel
AIMS: To determine the factors predictive of disease activity early in the course of SLE (baseline visit). METHODS: Patients from GLADEL, a multi-national, multi-ethnic, Latin-American lupus cohort were included. Disease activity was evaluated at baseline with the SLEDAI score. Demographic characteristics (age at diagnosis, gender, ethnicity, marital status, educational level, medical coverage and socioeconomic status) were assessed. Disease duration was defined as the time between the fourth ACR criterion and baseline...
February 2, 2017: Seminars in Arthritis and Rheumatism
https://www.readbyqxmd.com/read/28288143/dnmt3a-mutations-mediate-the-epigenetic-reactivation-of-the-leukemogenic-factor-meis1-in-acute-myeloid-leukemia
#18
H J Ferreira, H Heyn, M Vizoso, C Moutinho, E Vidal, A Gomez, A Martínez-Cardús, L Simó-Riudalbas, S Moran, E Jost, M Esteller
No abstract text is available yet for this article.
March 13, 2017: Oncogene
https://www.readbyqxmd.com/read/28253259/scalable-design-of-paired-crispr-guide-rnas-for-genomic-deletion
#19
Carlos Pulido-Quetglas, Estel Aparicio-Prat, Carme Arnan, Taisia Polidori, Toni Hermoso, Emilio Palumbo, Julia Ponomarenko, Roderic Guigo, Rory Johnson
CRISPR-Cas9 technology can be used to engineer precise genomic deletions with pairs of single guide RNAs (sgRNAs). This approach has been widely adopted for diverse applications, from disease modelling of individual loci, to parallelized loss-of-function screens of thousands of regulatory elements. However, no solution has been presented for the unique bioinformatic design requirements of CRISPR deletion. We here present CRISPETa, a pipeline for flexible and scalable paired sgRNA design based on an empirical scoring model...
March 2017: PLoS Computational Biology
https://www.readbyqxmd.com/read/28211912/dna-methylation-map-in-circulating-leukocytes-mirrors-subcutaneous-adipose-tissue-methylation-pattern-a-genome-wide-analysis-from-non-obese-and-obese-patients
#20
A B Crujeiras, A Diaz-Lagares, J Sandoval, F I Milagro, S Navas-Carretero, M C Carreira, A Gomez, D Hervas, M P Monteiro, F F Casanueva, M Esteller, J A Martinez
The characterization of the epigenetic changes within the obesity-related adipose tissue will provide new insights to understand this metabolic disorder, but adipose tissue is not easy to sample in population-based studies. We aimed to evaluate the capacity of circulating leukocytes to reflect the adipose tissue-specific DNA methylation status of obesity susceptibility. DNA samples isolated from subcutaneous adipose tissue and circulating leukocytes were hybridized in the Infinium HumanMethylation 450 BeadChip...
February 17, 2017: Scientific Reports
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