keyword
https://read.qxmd.com/read/32759205/development-and-validation-of-a-predictive-model-of-drug-resistant-genetic-generalized-epilepsy
#41
JOURNAL ARTICLE
Hyunmi Choi, Kamil Detyniecki, Carl Bazil, Suzanne Thornton, Peter Crosta, Hatem Tolba, Manahil Muneeb, Lawrence J Hirsch, Erin L Heinzen, Arjune Sen, Chantal Depondt, Piero Perucca, Gary A Heiman
OBJECTIVE: To develop and validate a clinical prediction model for antiepileptic drug (AED)-resistant genetic generalized epilepsy (GGE). METHOD: We performed a case-control study of patients with and without drug-resistant GGE, nested within ongoing longitudinal observational studies of AED response at 2 tertiary epilepsy centers. Using a validation dataset, we tested the predictive performance of 3 candidate models, developed from a training dataset. We then tested the candidate models' predictive ability on an external testing dataset...
October 13, 2020: Neurology
https://read.qxmd.com/read/32623772/epigencentral-portal-for-dna-methylation-data-analysis-and-classification-in-rare-diseases
#42
JOURNAL ARTICLE
Andrei L Turinsky, Sanaa Choufani, Kevin Lu, Da Liu, Pouria Mashouri, Daniel Min, Rosanna Weksberg, Michael Brudno
Epigenetic processes play a key role in regulating gene expression. Genetic variants that disrupt chromatin-modifying proteins are associated with a broad range of diseases, some of which have specific epigenetic patterns, such as aberrant DNA methylation (DNAm), which may be used as disease biomarkers. While much of the epigenetic research has focused on cancer, there is a paucity of resources devoted to neurodevelopmental disorders (NDDs), which include autism spectrum disorder and many rare, clinically overlapping syndromes...
October 2020: Human Mutation
https://read.qxmd.com/read/32606690/inhibited-metastasis-and-amplified-chemotherapeutic-effects-by-epigene-transfection-based-on-a-tumor-targeting-nanoparticle
#43
JOURNAL ARTICLE
Mengzhu Wang, Zhigang Wang, Bin Qiao, Jin Cao, Luya Quan, Yuanli Luo, Hanwen Qi, Xiaowen Zhong, Yubei He, Xianquan Zhang, Lan Hao
Purpose: Tumor metastasis and drug resistance have always been vital aspects to cancer mortality and prognosis. To compromise metastasis and drug resistance, a nanoparticle IPPD-PHF2 (IR780/PLGA-PEI(Dox)-PHF2) has been engineered to accomplish efficient targeted epigenotherapy forced by PHF2-induced MET (mesenchymal to epithelial transition). Materials and Methods: IPPD-PHF2 nanoparticle was synthesized and characterized by several analytical techniques. The transfection efficiency of IPP-PHF2 (IR780/PLGA-PEI-PHF2) was compared with PP-PHF2 (PLGA-PEI-PHF2) in vitro by WB and in vivo by IHC, and the cytotoxicity of IPP was compared with Lipo2000 in vitro by CCK8 assay...
2020: International Journal of Nanomedicine
https://read.qxmd.com/read/32289146/epigen-an-epistasis-simulation-pipeline
#44
JOURNAL ARTICLE
David B Blumenthal, Lorenzo Viola, Markus List, Jan Baumbach, Paolo Tieri, Tim Kacprowski
SUMMARY: Simulated data is crucial for evaluating epistasis detection tools in genome-wide association studies. Existing simulators are limited, as they do not account for linkage disequilibrium (LD), support limited interaction models of single nucleotide polymorphisms (SNPs) and only dichotomous phenotypes, or depend on proprietary software. In contrast, EpiGEN supports SNP interactions of arbitrary order, produces realistic LD patterns, and can generate both categorical and quantitative phenotypes...
April 14, 2020: Bioinformatics
https://read.qxmd.com/read/32264931/epigene-genome-wide-transcription-unit-annotation-using-a-multivariate-probabilistic-model-of-histone-modifications
#45
JOURNAL ARTICLE
Anshupa Sahu, Na Li, Ilona Dunkel, Ho-Ryun Chung
BACKGROUND: Understanding the transcriptome is critical for explaining the functional as well as regulatory roles of genomic regions. Current methods for the identification of transcription units (TUs) use RNA-seq that, however, require large quantities of mRNA rendering the identification of inherently unstable TUs, e.g. miRNA precursors, difficult. This problem can be alleviated by chromatin-based approaches due to a correlation between histone modifications and transcription. RESULTS: Here, we introduce EPIGENE, a novel chromatin segmentation method for the identification of active TUs using transcription-associated histone modifications...
April 7, 2020: Epigenetics & Chromatin
https://read.qxmd.com/read/32215971/antiepileptic-drug-teratogenicity-and-de-novo-genetic-variation-load
#46
JOURNAL ARTICLE
Piero Perucca, Alison Anderson, Dana Jazayeri, Alison Hitchcock, Janet Graham, Marian Todaro, Torbjörn Tomson, Dina Battino, Emilio Perucca, Meritxell Martinez Ferri, Anne Rochtus, Lieven Lagae, Maria Paola Canevini, Elena Zambrelli, Ellen Campbell, Bobby P C Koeleman, Ingrid E Scheffer, Samuel F Berkovic, Patrick Kwan, Sanjay M Sisodiya, David B Goldstein, Slavé Petrovski, John Craig, Frank J E Vajda, Terence J O'Brien
OBJECTIVE: The mechanisms by which antiepileptic drugs (AEDs) cause birth defects (BDs) are unknown. Data suggest that AED-induced BDs may result from a genome-wide increase of de novo variants in the embryo, a mechanism that we investigated. METHODS: Whole exome sequencing data from child-parent trios were interrogated for de novo single-nucleotide variants/indels (dnSNVs/indels) and de novo copy number variants (dnCNVs). Generalized linear models were applied to assess de novo variant burdens in children exposed prenatally to AEDs (AED-exposed children) versus children without BDs not exposed prenatally to AEDs (AED-unexposed unaffected children), and AED-exposed children with BDs versus those without BDs, adjusting for confounders...
June 2020: Annals of Neurology
https://read.qxmd.com/read/32193296/the-genetic-architecture-of-the-human-cerebral-cortex
#47
JOURNAL ARTICLE
Katrina L Grasby, Neda Jahanshad, Jodie N Painter, Lucía Colodro-Conde, Janita Bralten, Derrek P Hibar, Penelope A Lind, Fabrizio Pizzagalli, Christopher R K Ching, Mary Agnes B McMahon, Natalia Shatokhina, Leo C P Zsembik, Sophia I Thomopoulos, Alyssa H Zhu, Lachlan T Strike, Ingrid Agartz, Saud Alhusaini, Marcio A A Almeida, Dag Alnæs, Inge K Amlien, Micael Andersson, Tyler Ard, Nicola J Armstrong, Allison Ashley-Koch, Joshua R Atkins, Manon Bernard, Rachel M Brouwer, Elizabeth E L Buimer, Robin Bülow, Christian Bürger, Dara M Cannon, Mallar Chakravarty, Qiang Chen, Joshua W Cheung, Baptiste Couvy-Duchesne, Anders M Dale, Shareefa Dalvie, Tânia K de Araujo, Greig I de Zubicaray, Sonja M C de Zwarte, Anouk den Braber, Nhat Trung Doan, Katharina Dohm, Stefan Ehrlich, Hannah-Ruth Engelbrecht, Susanne Erk, Chun Chieh Fan, Iryna O Fedko, Sonya F Foley, Judith M Ford, Masaki Fukunaga, Melanie E Garrett, Tian Ge, Sudheer Giddaluru, Aaron L Goldman, Melissa J Green, Nynke A Groenewold, Dominik Grotegerd, Tiril P Gurholt, Boris A Gutman, Narelle K Hansell, Mathew A Harris, Marc B Harrison, Courtney C Haswell, Michael Hauser, Stefan Herms, Dirk J Heslenfeld, New Fei Ho, David Hoehn, Per Hoffmann, Laurena Holleran, Martine Hoogman, Jouke-Jan Hottenga, Masashi Ikeda, Deborah Janowitz, Iris E Jansen, Tianye Jia, Christiane Jockwitz, Ryota Kanai, Sherif Karama, Dalia Kasperaviciute, Tobias Kaufmann, Sinead Kelly, Masataka Kikuchi, Marieke Klein, Michael Knapp, Annchen R Knodt, Bernd Krämer, Max Lam, Thomas M Lancaster, Phil H Lee, Tristram A Lett, Lindsay B Lewis, Iscia Lopes-Cendes, Michelle Luciano, Fabio Macciardi, Andre F Marquand, Samuel R Mathias, Tracy R Melzer, Yuri Milaneschi, Nazanin Mirza-Schreiber, Jose C V Moreira, Thomas W Mühleisen, Bertram Müller-Myhsok, Pablo Najt, Soichiro Nakahara, Kwangsik Nho, Loes M Olde Loohuis, Dimitri Papadopoulos Orfanos, John F Pearson, Toni L Pitcher, Benno Pütz, Yann Quidé, Anjanibhargavi Ragothaman, Faisal M Rashid, William R Reay, Ronny Redlich, Céline S Reinbold, Jonathan Repple, Geneviève Richard, Brandalyn C Riedel, Shannon L Risacher, Cristiane S Rocha, Nina Roth Mota, Lauren Salminen, Arvin Saremi, Andrew J Saykin, Fenja Schlag, Lianne Schmaal, Peter R Schofield, Rodrigo Secolin, Chin Yang Shapland, Li Shen, Jean Shin, Elena Shumskaya, Ida E Sønderby, Emma Sprooten, Katherine E Tansey, Alexander Teumer, Anbupalam Thalamuthu, Diana Tordesillas-Gutiérrez, Jessica A Turner, Anne Uhlmann, Costanza Ludovica Vallerga, Dennis van der Meer, Marjolein M J van Donkelaar, Liza van Eijk, Theo G M van Erp, Neeltje E M van Haren, Daan van Rooij, Marie-José van Tol, Jan H Veldink, Ellen Verhoef, Esther Walton, Mingyuan Wang, Yunpeng Wang, Joanna M Wardlaw, Wei Wen, Lars T Westlye, Christopher D Whelan, Stephanie H Witt, Katharina Wittfeld, Christiane Wolf, Thomas Wolfers, Jing Qin Wu, Clarissa L Yasuda, Dario Zaremba, Zuo Zhang, Marcel P Zwiers, Eric Artiges, Amelia A Assareh, Rosa Ayesa-Arriola, Aysenil Belger, Christine L Brandt, Gregory G Brown, Sven Cichon, Joanne E Curran, Gareth E Davies, Franziska Degenhardt, Michelle F Dennis, Bruno Dietsche, Srdjan Djurovic, Colin P Doherty, Ryan Espiritu, Daniel Garijo, Yolanda Gil, Penny A Gowland, Robert C Green, Alexander N Häusler, Walter Heindel, Beng-Choon Ho, Wolfgang U Hoffmann, Florian Holsboer, Georg Homuth, Norbert Hosten, Clifford R Jack, MiHyun Jang, Andreas Jansen, Nathan A Kimbrel, Knut Kolskår, Sanne Koops, Axel Krug, Kelvin O Lim, Jurjen J Luykx, Daniel H Mathalon, Karen A Mather, Venkata S Mattay, Sarah Matthews, Jaqueline Mayoral Van Son, Sarah C McEwen, Ingrid Melle, Derek W Morris, Bryon A Mueller, Matthias Nauck, Jan E Nordvik, Markus M Nöthen, Daniel S O'Leary, Nils Opel, Marie-Laure Paillère Martinot, G Bruce Pike, Adrian Preda, Erin B Quinlan, Paul E Rasser, Varun Ratnakar, Simone Reppermund, Vidar M Steen, Paul A Tooney, Fábio R Torres, Dick J Veltman, James T Voyvodic, Robert Whelan, Tonya White, Hidenaga Yamamori, Hieab H H Adams, Joshua C Bis, Stephanie Debette, Charles Decarli, Myriam Fornage, Vilmundur Gudnason, Edith Hofer, M Arfan Ikram, Lenore Launer, W T Longstreth, Oscar L Lopez, Bernard Mazoyer, Thomas H Mosley, Gennady V Roshchupkin, Claudia L Satizabal, Reinhold Schmidt, Sudha Seshadri, Qiong Yang, Marina K M Alvim, David Ames, Tim J Anderson, Ole A Andreassen, Alejandro Arias-Vasquez, Mark E Bastin, Bernhard T Baune, Jean C Beckham, John Blangero, Dorret I Boomsma, Henry Brodaty, Han G Brunner, Randy L Buckner, Jan K Buitelaar, Juan R Bustillo, Wiepke Cahn, Murray J Cairns, Vince Calhoun, Vaughan J Carr, Xavier Caseras, Svenja Caspers, Gianpiero L Cavalleri, Fernando Cendes, Aiden Corvin, Benedicto Crespo-Facorro, John C Dalrymple-Alford, Udo Dannlowski, Eco J C de Geus, Ian J Deary, Norman Delanty, Chantal Depondt, Sylvane Desrivières, Gary Donohoe, Thomas Espeseth, Guillén Fernández, Simon E Fisher, Herta Flor, Andreas J Forstner, Clyde Francks, Barbara Franke, David C Glahn, Randy L Gollub, Hans J Grabe, Oliver Gruber, Asta K Håberg, Ahmad R Hariri, Catharina A Hartman, Ryota Hashimoto, Andreas Heinz, Frans A Henskens, Manon H J Hillegers, Pieter J Hoekstra, Avram J Holmes, L Elliot Hong, William D Hopkins, Hilleke E Hulshoff Pol, Terry L Jernigan, Erik G Jönsson, René S Kahn, Martin A Kennedy, Tilo T J Kircher, Peter Kochunov, John B J Kwok, Stephanie Le Hellard, Carmel M Loughland, Nicholas G Martin, Jean-Luc Martinot, Colm McDonald, Katie L McMahon, Andreas Meyer-Lindenberg, Patricia T Michie, Rajendra A Morey, Bryan Mowry, Lars Nyberg, Jaap Oosterlaan, Roel A Ophoff, Christos Pantelis, Tomas Paus, Zdenka Pausova, Brenda W J H Penninx, Tinca J C Polderman, Danielle Posthuma, Marcella Rietschel, Joshua L Roffman, Laura M Rowland, Perminder S Sachdev, Philipp G Sämann, Ulrich Schall, Gunter Schumann, Rodney J Scott, Kang Sim, Sanjay M Sisodiya, Jordan W Smoller, Iris E Sommer, Beate St Pourcain, Dan J Stein, Arthur W Toga, Julian N Trollor, Nic J A Van der Wee, Dennis van 't Ent, Henry Völzke, Henrik Walter, Bernd Weber, Daniel R Weinberger, Margaret J Wright, Juan Zhou, Jason L Stein, Paul M Thompson, Sarah E Medland
The cerebral cortex underlies our complex cognitive capabilities, yet little is known about the specific genetic loci that influence human cortical structure. To identify genetic variants that affect cortical structure, we conducted a genome-wide association meta-analysis of brain magnetic resonance imaging data from 51,665 individuals. We analyzed the surface area and average thickness of the whole cortex and 34 regions with known functional specializations. We identified 199 significant loci and found significant enrichment for loci influencing total surface area within regulatory elements that are active during prenatal cortical development, supporting the radial unit hypothesis...
March 20, 2020: Science
https://read.qxmd.com/read/32053030/toxicological-profile-of-lipid-based-nanostructures-are-they-considered-as-completely-safe-nanocarriers
#48
JOURNAL ARTICLE
Asaad Azarnezhad, Hadi Samadian, Mehdi Jaymand, Mahsa Sobhani, Amirhossein Ahmadi
Nanoparticles are ubiquitous in the environment and are widely used in medical science (e.g. bioimaging, diagnosis, and drug therapy delivery). Due to unique physicochemical properties, they are able to cross many barriers, which is not possible for traditional drugs. Nevertheless, exposure to NPs and their following interactions with organelles and macromolecules can result in negative effects on cells, especially, they can induce cytotoxicity, epigenicity, genotoxicity, and cell death. Lipid-based nanomaterials (LNPs) are one of the most important achievements in drug delivery mainly due to their superior physicochemical and biological characteristics, particularly its safety...
February 13, 2020: Critical Reviews in Toxicology
https://read.qxmd.com/read/32002610/the-clever-strategies-used-by-intracellular-parasites-to-hijack-host-gene-expression
#49
REVIEW
Marie Villares, Jérémy Berthelet, Jonathan B Weitzman
Intracellular pathogens need to develop sophisticated mechanisms to survive and thrive in the hostile environment within host cells. Unicellular, eukaryotic parasites from the Apicomplexa phylum have become masters of manipulating their host cells, exploiting signaling, and metabolic pathways to hijack host gene expression to their own advantage. These intracellular parasites have developed a wide range of strategies that affect transcriptional machineries and epigenetic events in the host cell nucleus. In recent years, many laboratories have risen to the challenge of studying the epigenetics of host-pathogen interactions with the hope that unraveling the complexity of the mechanisms involved will provide important insights into parasitism and provide clues to fight infection...
January 30, 2020: Seminars in Immunopathology
https://read.qxmd.com/read/31909799/classic-and-nonclassic-apparent-mineralocorticoid-excess-syndrome
#50
JOURNAL ARTICLE
Cristian A Carvajal, Alejandra Tapia-Castillo, Andrea Vecchiola, Rene Baudrand, Carlos E Fardella
CONTEXT: Arterial hypertension (AHT) is one of the most frequent pathologies in the general population. Subtypes of essential hypertension characterized by low renin levels allowed the identification of 2 different clinical entities: aldosterone-mediated mineralocorticoid receptor (MR) activation and cortisol-mediated MR activation. EVIDENCE ACQUISITION: This review is based upon a search of Pubmed and Google Scholar databases, up to August 2019, for all publications relating to endocrine hypertension, apparent mineralocorticoid excess (AME) and cortisol (F) to cortisone (E) metabolism...
April 1, 2020: Journal of Clinical Endocrinology and Metabolism
https://read.qxmd.com/read/31828978/epigenetic-signatures-in-overgrowth-syndromes-translational-opportunities
#51
JOURNAL ARTICLE
Cheryl Cytrynbaum, Sanaa Choufani, Rosanna Weksberg
In recent years, numerous overgrowth syndromes have been found to be caused by pathogenic DNA sequence variants in "epigenes," genes that encode proteins that function in epigenetic regulation. Epigenetic marks, including DNA methylation (DNAm), histone modifications and chromatin conformation, have emerged as a vital genome-wide regulatory mechanism that modulate the transcriptome temporally and spatially to drive normal developmental and cellular processes. Evidence suggests that epigenetic marks are layered and engage in crosstalk, in that disruptions of any one component of the epigenetic machinery impact the others...
December 2019: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://read.qxmd.com/read/31819912/genomic-and-clinical-predictors-of-lacosamide-response-in-refractory-epilepsies
#52
JOURNAL ARTICLE
Sinéad B Heavin, Mark McCormack, Stefan Wolking, Lisa Slattery, Nicole Walley, Andreja Avbersek, Jan Novy, Saurabh R Sinha, Rod Radtke, Colin Doherty, Pauls Auce, John Craig, Michael R Johnson, Bobby P C Koeleman, Roland Krause, Wolfram S Kunz, Anthony G Marson, Terence J O'Brien, Josemir W Sander, Graeme J Sills, Hreinn Stefansson, Pasquale Striano, Federico Zara, Chantal Depondt, Sanjay Sisodiya, David Goldstein, Holger Lerche, Gianpiero L Cavalleri, Norman Delanty
Objective: Clinical and genetic predictors of response to antiepileptic drugs (AEDs) are largely unknown. We examined predictors of lacosamide response in a real-world clinical setting. Methods: We tested the association of clinical predictors with treatment response using regression modeling in a cohort of people with refractory epilepsy. Genetic assessment for lacosamide response was conducted via genome-wide association studies and exome studies, comprising 281 candidate genes...
December 2019: Epilepsia Open
https://read.qxmd.com/read/31792241/genetics-of-cognitive-trajectory-in-brazilians-15-years-of-follow-up-from-the-bambu%C3%A3-epigen-cohort-study-of-aging
#53
JOURNAL ARTICLE
Mateus H Gouveia, Cibele C Cesar, Meddly L Santolalla, Hanaisa P Sant Anna, Marilia O Scliar, Thiago P Leal, Nathalia M Araújo, Giordano B Soares-Souza, Wagner C S Magalhães, Ignacio F Mata, Cleusa P Ferri, Erico Castro-Costa, Sam M Mbulaiteye, Sarah A Tishkoff, Daniel Shriner, Charles N Rotimi, Eduardo Tarazona-Santos, Maria Fernanda Lima-Costa
Age-related cognitive decline (ACD) is the gradual process of decreasing of cognitive function over age. Most genetic risk factors for ACD have been identified in European populations and there are no reports in admixed Latin American individuals. We performed admixture mapping, genome-wide association analysis (GWAS), and fine-mapping to examine genetic factors associated with 15-year cognitive trajectory in 1,407 Brazilian older adults, comprising 14,956 Mini-Mental State Examination measures. Participants were enrolled as part of the Bambuí-Epigen Cohort Study of Aging...
December 2, 2019: Scientific Reports
https://read.qxmd.com/read/31676723/proximal-tubule-derived-amphiregulin-amplifies-and-integrates-profibrotic-egf-receptor-signals-in-kidney-fibrosis
#54
JOURNAL ARTICLE
Eirini Kefaloyianni, Manikanda Raja Keerthi Raja, Julian Schumacher, Muthu Lakshmi Muthu, Vaishali Krishnadoss, Sushrut S Waikar, Andreas Herrlich
BACKGROUND: Sustained activation of EGF receptor (EGFR) in proximal tubule cells is a hallmark of progressive kidney fibrosis after AKI and in CKD. However, the molecular mechanisms and particular EGFR ligands involved are unknown. METHODS: We studied EGFR activation in proximal tubule cells and primary tubular cells isolated from injured kidneys in vitro . To determine in vivo the role of amphiregulin, a low-affinity EGFR ligand that is highly upregulated with injury, we used ischemia-reperfusion injury or unilateral ureteral obstruction in mice with proximal tubule cell-specific knockout of amphiregulin...
December 2019: Journal of the American Society of Nephrology: JASN
https://read.qxmd.com/read/30711678/de-novo-mutations-in-patients-with-chronic-ultra-refractory-epilepsy-with-onset-after-age-five-years
#55
JOURNAL ARTICLE
Mark McCormack, Ronan McGinty, Xiaolin Zhu, Lisa Slattery, Erin L Heinzen, Daniel J Costello, Norman Delanty, Gianpiero L Cavalleri
We set out to investigate whether a de-novo paradigm could explain genetic causes of chronic ultra-refractory epilepsy, with onset later than the typical age for the epileptic encephalopathies. We performed exome sequencing on nine adult patients with MRI-negative epilepsy and no preceding intellectual disability. All had an onset of seizures after five years old and had chronic ultra-refractory epilepsy defined here as having failed more than six anti-epileptic drugs and currently experiencing ≥4 disabling seizures per month...
January 31, 2019: European Journal of Medical Genetics
https://read.qxmd.com/read/30622309/differential-slc6a4-methylation-a-predictive-epigenetic-marker-of-adiposity-from-birth-to-adulthood
#56
JOURNAL ARTICLE
Karen A Lillycrop, Emma S Garratt, Philip Titcombe, Phillip E Melton, Robert J S Murray, Sheila J Barton, Rebecca Clarke-Harris, Paula M Costello, Joanna D Holbrook, James C Hopkins, Caroline E Childs, Carolina Paras-Chavez, Philip C Calder, Trevor A Mori, Lawrie Beilin, Graham C Burdge, Peter D Gluckman, Hazel M Inskip, Nicholas C Harvey, Mark A Hanson, Rae-Chi Huang, Cyrus Cooper, Keith M Godfrey
BACKGROUND: The early life environment may influence susceptibility to obesity and metabolic disease in later life through epigenetic processes. SLC6A4 is an important mediator of serotonin bioavailability, and has a key role in energy balance. We tested the hypothesis that methylation of the SLC6A4 gene predicts adiposity across the life course. METHODS: DNA methylation at 5 CpGs within the SLC6A4 gene identified from a previous methyl binding domain array was measured by pyrosequencing...
January 8, 2019: International Journal of Obesity
https://read.qxmd.com/read/30593821/nrf2-mediated-expansion-of-pilosebaceous-cells-accelerates-cutaneous-wound-healing
#57
JOURNAL ARTICLE
Sukalp Muzumdar, Hayley Hiebert, Eric Haertel, Maya Ben-Yehuda Greenwald, Wilhelm Bloch, Sabine Werner, Matthias Schäfer
The nuclear factor (erythroid-derived 2)-like 2 (Nrf2) transcription factor is a key regulator of the cellular stress response. Therefore, pharmacologic Nrf2 activation is a promising strategy for skin protection and cancer prevention. This study found that genetic Nrf2 activation in keratinocytes accelerates wound repair. Enhanced proliferation of cells of the pilosebaceous unit peripheral to the wound and a concomitant acceleration of re-epithelialization were identified as the underlying mechanism. Nrf2 specifically promoted the expansion of pilosebaceous cells expressing markers of junctional zone and upper isthmus follicular stem cells...
March 2019: American Journal of Pathology
https://read.qxmd.com/read/30221750/genomic-african-and-native-american-ancestry-and-15-year-cognitive-trajectory-bambui-study-brazil
#58
JOURNAL ARTICLE
M Fernanda Lima-Costa, Mateus H Gouveia, Cibele C Cesar, Eduardo Tarazona-Santos, Rob Stewart, Cleusa P Ferri, Erico Castro-Costa
OBJECTIVES: To investigate the association between African and Native American genomic ancestry and long-term cognitive trajectories in admixed Brazilians. DESIGN: Population-based longitudinal study. SETTING: Bambui-Epigen (Brazil) cohort study. PARTICIPANTS: Adults aged 60 and older (N=1,215) MEASUREMENTS: Participants were followed from January 1997 to December 2011. Cognitive function was assessed annually using the Mini-Mental State Examination (MMSE), totaling 12,208 measurements...
September 17, 2018: Journal of the American Geriatrics Society
https://read.qxmd.com/read/30176603/softepigen-primers-design-web-based-tool-for-ms-hrm-technique
#59
JOURNAL ARTICLE
Efrain Pinzon, Paola Rondon-Villarreal, William A Alvarez, Hernan Guillermo Hernandez
Polymerase Chain Reaction (PCR) based techniques for DNA methylation techniques includes MS-HRM technique. Methylation Sensitive High-Resolution Melting (MS-HRM) primer-design requires a set of necessary recommendations for such DNA methylation assessment. However, there were not any available software that allows an automatic design of this kind primers. We present Softepigen, the first complete MS-HRM primer design software. Softepigen allows to search for primers in a genomic region following Wojdacz's recommendations and targets primer binding regions with high linguistic complexity sequences that increase the specificity of the converted sequence of the human genome...
August 29, 2018: IEEE/ACM Transactions on Computational Biology and Bioinformatics
https://read.qxmd.com/read/30094969/expression-of-vasa-piwi-and-nanos-during-gametogenesis-in-typosyllis-antoni-annelida-syllidae
#60
JOURNAL ARTICLE
Guillermo Ponz-Segrelles, Christoph Bleidorn, M Teresa Aguado
Although model species have proven to be crucial for developmental biology, the evo-devo approach requires a broader picture across phylogeny. Herein, we try to expand the range of studied annelids by presenting a transcriptome of Typosyllis antoni as a tool for the study of developmental and evolutionary processes in Syllidae. Moreover, we provide homologs of the stem-cell markers vasa, piwi, and nanos, and investigate their expression patterns in gamete-producing individuals for the first time in this group...
September 2018: Evolution & Development
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