1 Table S1. Outlier Loci Detected by Deepgenomescan Using
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Modulated in Intestinal Inflammation A
BTNL2, a Butyrophilin/B7-Like Molecule, Is a Negative Costimulatory Molecule Modulated in Intestinal Inflammation This information is current as Heather A. Arnett, Sabine S. Escobar, Eva Gonzalez-Suarez, of September 28, 2021. Alison L. Budelsky, Lori A. Steffen, Norman Boiani, Ming Zhang, Gerald Siu, Avery W. Brewer and Joanne L. Viney J Immunol 2007; 178:1523-1533; ; doi: 10.4049/jimmunol.178.3.1523 http://www.jimmunol.org/content/178/3/1523 Downloaded from References This article cites 40 articles, 12 of which you can access for free at: http://www.jimmunol.org/content/178/3/1523.full#ref-list-1 http://www.jimmunol.org/ Why The JI? Submit online. • Rapid Reviews! 30 days* from submission to initial decision • No Triage! Every submission reviewed by practicing scientists • Fast Publication! 4 weeks from acceptance to publication by guest on September 28, 2021 *average Subscription Information about subscribing to The Journal of Immunology is online at: http://jimmunol.org/subscription Permissions Submit copyright permission requests at: http://www.aai.org/About/Publications/JI/copyright.html Email Alerts Receive free email-alerts when new articles cite this article. Sign up at: http://jimmunol.org/alerts The Journal of Immunology is published twice each month by The American Association of Immunologists, Inc., 1451 Rockville Pike, Suite 650, Rockville, MD 20852 Copyright © 2007 by The American Association of Immunologists All rights reserved. Print ISSN: 0022-1767 Online ISSN: 1550-6606. The Journal of Immunology BTNL2, a Butyrophilin/B7-Like Molecule, Is a Negative Costimulatory Molecule Modulated in Intestinal Inflammation Heather A. Arnett,1* Sabine S. -
Next Generation Exome Sequencing of Paediatric Inflammatory Bowel Disease Patients Identifies Rare and Novel Variants in Candida
Gut Online First, published on April 28, 2012 as 10.1136/gutjnl-2011-301833 Inflammatory bowel disease ORIGINAL ARTICLE Gut: first published as 10.1136/gutjnl-2011-301833 on 28 April 2012. Downloaded from Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes Katja Christodoulou,1 Anthony E Wiskin,2 Jane Gibson,1 William Tapper,1 Claire Willis,2 Nadeem A Afzal,3 Rosanna Upstill-Goddard,1 John W Holloway,4 Michael A Simpson,5 R Mark Beattie,3 Andrew Collins,1 Sarah Ennis1 < Additional materials are ABSTRACT published online only. To view Background Multiple genes have been implicated by Significance of this study these files please visit the association studies in altering inflammatory bowel journal online (http://gut.bmj. com/content/early/recent). disease (IBD) predisposition. Paediatric patients often What is already known on this subject? manifest more extensive disease and a particularly < For numbered affiliations see Genome-wide association studies have impli- end of article. severe disease course. It is likely that genetic cated numerous candidate genes for inflamma- predisposition plays a more substantial role in this group. tory bowel disease (IBD), but evidence of Correspondence to Objective To identify the spectrum of rare and novel causality for specific variants is largely absent. Dr Sarah Ennis, Genetic variation in known IBD susceptibility genes using exome Furthermore, by design, genome-wide associa- Epidemiology and Genomic sequencing analysis in eight individual cases of childhood Informatics Group, Human tion studies are limited to the study of Genetics, Faculty of Medicine, onset severe disease. -
Familial Vs. Sporadic Sarcoidosis: BTNL2 Polymorphisms, Clinical
Familial vs. sporadic sarcoidosis: BTNL2 polymorphisms, clinical presentations, and outcomes in a French cohort Yves Pacheco, Alain Calender, Dominique Israël-Biet, Pascal Roy, Serge Lebecque, Vincent Cottin, Diane Bouvry, Hilario Nunes, Pascal Sève, Laurent Pérard, et al. To cite this version: Yves Pacheco, Alain Calender, Dominique Israël-Biet, Pascal Roy, Serge Lebecque, et al.. Familial vs. sporadic sarcoidosis: BTNL2 polymorphisms, clinical presentations, and outcomes in a French cohort. Orphanet Journal of Rare Diseases, BioMed Central, 2016, 11 (1), 10.1186/s13023-016-0546-4. hal- 01595465 HAL Id: hal-01595465 https://hal.archives-ouvertes.fr/hal-01595465 Submitted on 26 Sep 2017 HAL is a multi-disciplinary open access L’archive ouverte pluridisciplinaire HAL, est archive for the deposit and dissemination of sci- destinée au dépôt et à la diffusion de documents entific research documents, whether they are pub- scientifiques de niveau recherche, publiés ou non, lished or not. The documents may come from émanant des établissements d’enseignement et de teaching and research institutions in France or recherche français ou étrangers, des laboratoires abroad, or from public or private research centers. publics ou privés. Distributed under a Creative Commons Attribution - ShareAlike| 4.0 International License Pacheco et al. Orphanet Journal of Rare Diseases (2016) 11:165 DOI 10.1186/s13023-016-0546-4 RESEARCH Open Access Familial vs. sporadic sarcoidosis: BTNL2 polymorphisms, clinical presentations, and outcomes in a French cohort Yves Pacheco1,11*, Alain Calender2, Dominique Israël-Biet3, Pascal Roy4, Serge Lebecque5, Vincent Cottin6, Diane Bouvry7, Hilario Nunes7, Pascal Sève8, Laurent Pérard9, Gilles Devouassoux8, Nathalie Freymond1, Chahira Khouatra6, Benoît Wallaert10, Raphaelle Lamy2, Mad-Hélénie Elsensohn4, Claire Bardel4, Dominique Valeyre7 and GSF group Abstract Background: The occurrence of familial forms of sarcoidosis (OMIM 181100) suggests a genetic predisposition. -
2027.Full.Pdf
Butyrophilin-like 2 Modulates B7 Costimulation To Induce Foxp3 Expression and Regulatory T Cell Development in Mature T Cells This information is current as of September 28, 2021. Ryan M. Swanson, Marc A. Gavin, Sabine S. Escobar, James B. Rottman, Brian P. Lipsky, Shishir Dube, Li Li, Jeannette Bigler, Martin Wolfson, Heather A. Arnett and Joanne L. Viney J Immunol 2013; 190:2027-2035; Prepublished online 28 Downloaded from January 2013; doi: 10.4049/jimmunol.1201760 http://www.jimmunol.org/content/190/5/2027 http://www.jimmunol.org/ Supplementary http://www.jimmunol.org/content/suppl/2013/01/28/jimmunol.120176 Material 0.DC1 References This article cites 40 articles, 18 of which you can access for free at: http://www.jimmunol.org/content/190/5/2027.full#ref-list-1 by guest on September 28, 2021 Why The JI? Submit online. • Rapid Reviews! 30 days* from submission to initial decision • No Triage! Every submission reviewed by practicing scientists • Fast Publication! 4 weeks from acceptance to publication *average Subscription Information about subscribing to The Journal of Immunology is online at: http://jimmunol.org/subscription Permissions Submit copyright permission requests at: http://www.aai.org/About/Publications/JI/copyright.html Email Alerts Receive free email-alerts when new articles cite this article. Sign up at: http://jimmunol.org/alerts The Journal of Immunology is published twice each month by The American Association of Immunologists, Inc., 1451 Rockville Pike, Suite 650, Rockville, MD 20852 Copyright © 2013 by The American Association of Immunologists, Inc. All rights reserved. Print ISSN: 0022-1767 Online ISSN: 1550-6606. -
Functions to Inhibit T Cell Activation BTNL2, a Butyrophilin-Like
BTNL2, a Butyrophilin-Like Molecule That Functions to Inhibit T Cell Activation Thang Nguyen, Xikui K. Liu, Yongliang Zhang and Chen Dong This information is current as of October 2, 2021. J Immunol 2006; 176:7354-7360; ; doi: 10.4049/jimmunol.176.12.7354 http://www.jimmunol.org/content/176/12/7354 Downloaded from References This article cites 40 articles, 10 of which you can access for free at: http://www.jimmunol.org/content/176/12/7354.full#ref-list-1 Why The JI? Submit online. http://www.jimmunol.org/ • Rapid Reviews! 30 days* from submission to initial decision • No Triage! Every submission reviewed by practicing scientists • Fast Publication! 4 weeks from acceptance to publication *average by guest on October 2, 2021 Subscription Information about subscribing to The Journal of Immunology is online at: http://jimmunol.org/subscription Permissions Submit copyright permission requests at: http://www.aai.org/About/Publications/JI/copyright.html Email Alerts Receive free email-alerts when new articles cite this article. Sign up at: http://jimmunol.org/alerts The Journal of Immunology is published twice each month by The American Association of Immunologists, Inc., 1451 Rockville Pike, Suite 650, Rockville, MD 20852 Copyright © 2006 by The American Association of Immunologists All rights reserved. Print ISSN: 0022-1767 Online ISSN: 1550-6606. The Journal of Immunology BTNL2, a Butyrophilin-Like Molecule That Functions to Inhibit T Cell Activation1 Thang Nguyen,2* Xikui K. Liu,2† Yongliang Zhang,† and Chen Dong3† B7 family members regulate T cell activation and tolerance. Although butyrophilin proteins share sequence homology with the B7 molecules, it is unclear whether they have any function in immune responses. -
(AMD) and Their Role in the Regulation of Gene Expression
Genetic Variants with Significant Association to Age-Related Macular Degeneration (AMD) and their Role in the Regulation of Gene Expression Dissertation zur Erlangung des Doktorgrades der Biomedizinischen Wissenschaften (Dr. rer. physiol.) der Fakultät für Medizin der Universität Regensburg vorgelegt von Tobias Strunz aus Marktredwitz im Jahr 2020 Genetic Variants with Significant Association to Age-Related Macular Degeneration (AMD) and their Role in the Regulation of Gene Expression Dissertation zur Erlangung des Doktorgrades der Biomedizinischen Wissenschaften (Dr. rer. physiol.) der Fakultät für Medizin der Universität Regensburg vorgelegt von Tobias Strunz aus Marktredwitz im Jahr 2020 Dekan: Prof. Dr. Dirk Hellwig Betreuer: Prof. Dr. Bernhard H.F. Weber Tag der mündlichen Prüfung: 02.12.2020 Parts of this work have already been published in peer-reviewed journals in an open access format: Strunz T, Grassmann F, Gayán J, Nahkuri S, Souza-Costa D, Maugeais C, Fauser S, Nogoceke E, Weber BHF (2018) A mega-analysis of expression quantitative trait loci (eQTL) provides insight into the regulatory architecture of gene expression variation in liver. Sci Rep 8: 5865. Strunz T, Lauwen S, Kiel C, den Hollander A, Weber BHF (2020) A transcriptome- wide association study based on 27 tissues identifies 106 genes potentially relevant for disease pathology in age-related macular degeneration. Sci Rep 10: 1584. Strunz T, Kiel C, Grassmann F, Ratnapriya R, Kwicklis M, Karlstetter M, Fauser S, Swaroop A, Arend N, Langmann T, Wolf A, Weber BHF (2020) A mega-analysis of expression quantitative trait loci in retinal tissue. PLoS Genet 16: e1008934. Kiel C, Berber P, Karlstetter M, Aslanidis A, Strunz T, Langmann T, Grassmann F, Weber BHF (2020) A Circulating MicroRNA Profile in a Laser-Induced Mouse Model of Choroidal Neovascularization. -
Genetic Landscape of Nonobstructive Azoospermia and New Perspectives for the Clinic
Journal of Clinical Medicine Review Genetic Landscape of Nonobstructive Azoospermia and New Perspectives for the Clinic Miriam Cerván-Martín 1,2, José A. Castilla 2,3,4, Rogelio J. Palomino-Morales 2,5 and F. David Carmona 1,2,* 1 Departamento de Genética e Instituto de Biotecnología, Universidad de Granada, Centro de Investigación Biomédica (CIBM), Parque Tecnológico Ciencias de la Salud, Av. del Conocimiento, s/n, 18016 Granada, Spain; [email protected] 2 Instituto de Investigación Biosanitaria ibs.GRANADA, Av. de Madrid, 15, Pabellón de Consultas Externas 2, 2ª Planta, 18012 Granada, Spain; [email protected] (J.A.C.); [email protected] (R.J.P.-M.) 3 Unidad de Reproducción, UGC Obstetricia y Ginecología, HU Virgen de las Nieves, Av. de las Fuerzas Armadas 2, 18014 Granada, Spain 4 CEIFER Biobanco—NextClinics, Calle Maestro Bretón 1, 18004 Granada, Spain 5 Departamento de Bioquímica y Biología Molecular I, Universidad de Granada, Facultad de Ciencias, Av. de Fuente Nueva s/n, 18071 Granada, Spain * Correspondence: [email protected]; Tel.: +34-958-241-000 (ext 20170) Received: 29 December 2019; Accepted: 16 January 2020; Published: 21 January 2020 Abstract: Nonobstructive azoospermia (NOA) represents the most severe expression of male infertility, involving around 1% of the male population and 10% of infertile men. This condition is characterised by the inability of the testis to produce sperm cells, and it is considered to have an important genetic component. During the last two decades, different genetic anomalies, including microdeletions of the Y chromosome, karyotype defects, and missense mutations in genes involved in the reproductive function, have been described as the primary cause of NOA in many infertile men. -
Genetics and Epigenetics in Asthma
International Journal of Molecular Sciences Review Genetics and Epigenetics in Asthma Polyxeni Ntontsi 1, Andreas Photiades 1 , Eleftherios Zervas 1 , Georgina Xanthou 2 and Konstantinos Samitas 1,2,* 1 7th Respiratory Medicine Department and Asthma Center, Athens Chest Hospital “Sotiria”, 11527 Athens, Greece; [email protected] (P.N.); [email protected] (A.P.); [email protected] (E.Z.) 2 Cellular Immunology Laboratory, Biomedical Research Foundation of the Academy of Athens, 11527 Athens, Greece; [email protected] * Correspondence: [email protected]; Tel.: +30-210-778-1720 Abstract: Asthma is one of the most common respiratory disease that affects both children and adults worldwide, with diverse phenotypes and underlying pathogenetic mechanisms poorly understood. As technology in genome sequencing progressed, scientific efforts were made to explain and pre- dict asthma’s complexity and heterogeneity, and genome-wide association studies (GWAS) quickly became the preferred study method. Several gene markers and loci associated with asthma suscep- tibility, atopic and childhood-onset asthma were identified during the last few decades. Markers near the ORMDL3/GSDMB genes were associated with childhood-onset asthma, interleukin (IL)33 and IL1RL1 SNPs were associated with atopic asthma, and the Thymic Stromal Lymphopoietin (TSLP) gene was identified as protective against the risk to TH2-asthma. The latest efforts and advances in identifying and decoding asthma susceptibility are focused on epigenetics, heritable characteristics that affect gene expression without altering DNA sequence, with DNA methylation being the most described mechanism. Other less studied epigenetic mechanisms include histone modifications and alterations of miR expression. Recent findings suggest that the DNA methylation pattern is tissue Citation: Ntontsi, P.; Photiades, A.; and cell-specific. -
The COVID-19 Gene and Drug Set Library
The COVID-19 Gene and Drug Set Library Maxim V. Kuleshov1, Daniel J.B. Clarke1, Eryk Kropiwnicki1, Kathleen M. Jagodnik1, Alon Bartal1, John E. Evangelista1, Abigail Zhou1, Laura B. Ferguson2, Alexander Lachmann1, Avi Ma’ayan1,* 1Department of Pharmacological Sciences; Mount Sinai Center for Bioinformatics; Big Data to Knowledge, Library of Integrated Network-based Cellular Signatures, Data Coordination and Integration Center (BD2K-LINCS DCIC); Knowledge Management Center for Illuminating the Druggable Genome (KMC-IDG); Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1603, New York, NY 10029, USA 2Department of Neurology; Dell Medical School; University of Texas at Austin; 1601 Trinity Street, Bldg B, Austin, TX 78712, USA. To whom correspondence should be addressed: [email protected] Abstract The coronavirus (CoV) severe acute respiratory syndrome (SARS)-CoV-2 (COVID-19) pandemic has received rapid response by the research community to offer suggestions for repurposing of approved drugs as well as to improve our understanding of the COVID-19 viral life cycle molecular mechanisms. In a short period, tens of thousands of research preprints and other publications have emerged including those that report lists of experimentally validated drugs and compounds as potential COVID-19 therapies. In addition, gene sets from interacting COVID-19 virus-host proteins and differentially expressed genes when comparing infected to uninfected cells are being published at a fast rate. To organize this rapidly accumulating knowledge, we developed the COVID-19 Gene and Drug Set Library (https://amp.pharm.mssm.edu/covid19/), a collection of gene and drug sets related to COVID-19 research from multiple sources. -
FARE2017 WINNERS Sorted by Institute/Center
FARE2017 WINNERS Sorted By Institute/Center NIH Clinical Center (CC) Zachary Lerner Postdoctoral FellowPostdoctoral Fellow Clinical and Translational Research A Robotic Exoskeleton to Treat Crouch Gait from Cerebral Palsy: Design and Initial Clinical Evaluation Cerebral palsy (CP) is the most prevalent childhood physical disability and adversely affects walking and other motor abilities. Crouch gait, a pathological walking pattern characterized by excessive knee flexion, is one of the most common gait disorders observed in children with CP. Effective treatment of crouch during childhood is critical to maintain mobility into adulthood, yet current interventions do not adequately eliminate or alleviate crouch in most patients. Wearable robotic exoskeletons have the potential to improve crouch gait by providing on demand assistance during walking. However, no exoskeletons suitable to treat children are commercially available, and no evidence exists regarding the feasibility or efficacy of utilizing motorized assistance to alleviate knee flexion from crouch gait. Enhanced knowledge of neuromuscular adaptations to powered assistance in children with crouch gait is needed to optimize this treatment approach. To meet these needs, we developed the first lower- extremity exoskeleton intended to treat crouch gait by providing powered knee extension assistance at different phases of the gait cycle. We evaluated the effects of powered knee extension assistance on knee motion, and knee flexor and extensor muscle activity in four children with crouch gait from CP. The exoskeleton was effective in reducing crouch in three of the four participants compared to their baseline gait pattern. The reduction in crouch was clinically significant (greater than 10 degrees) in two of the participants. -
Functional Characterization of Potential New Agents for Cancer Immunotherapy
Functional Characterization of Potential New Agents for Cancer Immunotherapy The Harvard community has made this article openly available. Please share how this access benefits you. Your story matters Citable link http://nrs.harvard.edu/urn-3:HUL.InstRepos:39010116 Terms of Use This article was downloaded from Harvard University’s DASH repository, and is made available under the terms and conditions applicable to Other Posted Material, as set forth at http:// nrs.harvard.edu/urn-3:HUL.InstRepos:dash.current.terms-of- use#LAA Functional Characterization of Potential New Agents for Cancer Immunotherapy Xiaoxu Wang A Thesis Submitted to the Faculty of The Harvard Medical School in Partial Fulfillment of the Requirements for the Degree of Master of Medical Sciences in Immunology Harvard University Boston, Massachusetts. May, 2018 Thesis Advisor: Dr. Gordon Freeman Xiaoxu Wang Functional Characterization of Potential New Agents for Cancer Immunotherapy Abstract PD-1/PD-L1 checkpoint blockade has demonstrated promise in a variety of malignancies. The blockade of T cell inhibitory molecules PD-1 and PD-L1 can rejuvenate T cells and improve tumor cell killing. However, the overall response rate of PD-1/PD-L1 immunotherapy is only about 20-30%. One promising method to improve cancer immunotherapy is combinatory immunotherapies that target new receptors/ligands regulating T cell activity, so the functional characterization of these new receptors/ligands is urgent. Due to the functional importance of the B7 superfamily in T cell activation, I studied T cell regulating functions of two poorly characterized B7 superfamily members, IgC domain-truncated CD86 and butyrophilin-like 2 (BTNL2). -
Genetic Impacts on DNA Methylation: Research Findings and Future Perspectives
Villicaña and Bell Genome Biology (2021) 22:127 https://doi.org/10.1186/s13059-021-02347-6 REVIEW Open Access Genetic impacts on DNA methylation: research findings and future perspectives Sergio Villicaña* and Jordana T. Bell *Correspondence: [email protected] Abstract Department of Twin Research and Multiple recent studies highlight that genetic variants can have strong impacts on a Genetic Epidemiology, St. Thomas’ Hospital, King’s College London, 3rd significant proportion of the human DNA methylome. Methylation quantitative trait Floor, South Wing, Block D, London loci, or meQTLs, allow for the exploration of biological mechanisms that underlie SE1 7EH, UK complex human phenotypes, with potential insights for human disease onset and progression. In this review, we summarize recent milestones in characterizing the human genetic basis of DNA methylation variation over the last decade, including heritability findings and genome-wide identification of meQTLs. We also discuss challenges in this field and future areas of research geared to generate insights into molecular processes underlying human complex traits. Keywords: DNA methylation, Heritability, GWAS, Methylation quantitative trait loci, meQTL Introduction The complexity of the human genome lies not only in its composition of billions of base pairs, but also in the chemical modifications that make it interpretable to enzymes and other molecular factors, through epigenetic mechanisms. DNA methylation has been the most widely studied epigenetic mark since 1948 when it was first reported [1]. In humans, DNA methylation consists of the covalent addition of a methyl group to cytosine residues—predominantly at CpG sites—by a family of enzymes called DNA methyltrans- ferases (DNMTs) [2, 3].