Molecular Biology Essentials
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Article Association of Systemic Lupus Erythematosus
Article Association of Systemic Lupus Erythematosus Susceptibility Genes with IgA Nephropathy in a Chinese Cohort Xu-Jie Zhou, Fa-Juan Cheng, Li Zhu, Ji-Cheng Lv, Yuan-Yuan Qi, Ping Hou, and Hong Zhang Abstract Background and objectives One hypothesis states that IgA nephropathy (IgAN) is a syndrome with an Renal Division, Peking University First autoimmune component. Recent studies strongly support the notion of shared genetics between immune-related Hospital; Peking diseases. This study investigated single-nucleotide polymorphisms (SNPs) reported to be associated with University Institute of systemic lupus erythematosus (SLE) in a Chinese cohort of patients with IgAN and in controls. Nephrology; Key Laboratory of Renal Disease, Ministry of Design, setting, participants, & measurements This study investigated whether SNP markers that had been Health of China; and reported to be associated with SLE were also associated with IgAN in a Chinese population. The study cohort Key Laboratory of consisted of 1194 patients with IgAN and 902 controls enrolled in Peking University First Hospital from 1997 to Chronic Kidney 2008. Disease Prevention and Treatment (Peking University), Ministry , 3 25 Results Ninety-six SNPs mapping to 60 SLE loci with reported P values 1 10 were investigated. CFH of Education, Beijing, 2 2 2 2 2 (P=8.41310 6), HLA-DRA (P=4.91310 6), HLA-DRB1 (P=9.46310 9), PXK (P=3.62310 4), BLK (P=9.32310 3), People’s Republic of and UBE2L3 (P=4.0731023) were identified as shared genes between IgAN and SLE. All associations reported China herein were corroborated by associations at neighboring SNPs. -
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Faculté de Médecine Laboratoire de Recherche en Orthopédie Traumatologie (LROT) Etude des effets d’un courant électrique pulsé de basses fréquences sur les kératinocytes humains Jean-François Collard Thèse présentée en vue de l’obtention du grade académique de Docteur en Sciences Biomédicales et Pharmaceutiques Devant le Jury composé des Professeurs : Philippe LEBRUN (Président - ULB) Maurice HINSENKAMP (Promoteur - ULB) Carine MAENHAUT (Secrétaire - ULB) Véronique DEL MARMOL (ULB) Marcel ROOZE (ULB) Stéphane SWILLENS (ULB) Isabelle LAGROYE (Université de Bordeaux, France) Année académique Antonio SAROLIC (Université de Split, Croatie) 2015-2016 Faculté de Médecine Laboratoire de Recherche en Orthopédie Traumatologie (LROT) Etude des effets d’un courant électrique pulsé de basses fréquences sur les kératinocytes humains Jean-François Collard Thèse présentée en vue de l’obtention du grade académique de Docteur en Sciences Biomédicales et Pharmaceutiques Devant le Jury composé des Professeurs : Philippe LEBRUN (Président - ULB) Maurice HINSENKAMP (Promoteur - ULB) Carine MAENHAUT (Secrétaire - ULB) Véronique DEL MARMOL (ULB) Marcel ROOZE (ULB) Stéphane SWILLENS (ULB) Isabelle LAGROYE (Université de Bordeaux, France) Antonio SAROLIC (Université de Split, Croatie) Année académique 2015-2016 Remerciements Je suis conscient que ce travail a été rendu possible grâce à la confiance que me témoigne le Pr. Hinsenkamp depuis plusieurs années. C'est un réel plaisir de discuter Sciences avec lui et de confronter nos idées. Je suis sincèrement reconnaissant pour l'autonomie et les nombreuses responsabilités qu'il m'a confiées au fil des années. Le terme le plus juste et pourtant si simple que m'offre la langue française pour lui témoigner ma gratitude est le mot "Merci". -
A Novel Mirna Cluster Within the Circadian Clock Gene NPAS2 and the Implications of Rs1811399, an Autism Enriched Single Nucleot
A novel miRNA cluster within the circadian clock gene NPAS2 and the implications of rs1811399, an autism enriched single nucleotide polymorphism. Thesis submitted in accordance with the requirements of Bangor University for the degree of Doctor in Philosophy Dylan Wyn Jones Bangor University, UK School of Biological Sciences December 2014 ACKNOWLEDGMENTS I would like to extend my deepest thanks to Dr Thomas Caspari for taking on this difficult project and entrusting me to deliver the result. I am grateful for all his work and insight into the scientific process. I would also care to extend my gratitude to Dr Natalia Harrison who trained me during the first few months in the intricacies of tissue culture. I would also like to commend Dr Brad Nicholas and Dr Dawn Wimpory for their invaluable insights and assistance throughout the project. Without their prior work in the field I would not have had these three years. Thanks also go to the Knowledge Economy Skills Scholarship (KESS) and Autism Cymru for funding this research project. ************ Buaswn yn hoffi diolch, a cyflwyno, yr gwaith yma I Bethan Davies-Jones fy annwyl wraig. Dros yr tair blynedd ddweutha rwyt wedi bod yn gefn i mi ac yn ysbridoliaeth. Nid wyf yn deud gormod wrth ddweud na hebdda ti ni buaswn wedi cyraedd yr lle rwyf wedi. I fy nheulu am yr holl cefnogaeth drost y blynyddoedd. I Mam a Dad am fy magu ac I Endaf, fy mhrawd. Hefyd mewn côf o Nain a Taid Rhos-y-bôl a Taid Tŷ Croes. Effallai nid ydych yma i weld diwedd fy nhaith drwyr brif ysgol ond mae’r cofion melus yn ein cadw ni yn fynd. -
The Characterization of Varicella Zoster Virus Specific T Cells in Skin and Blood During
The Characterization of Varicella Zoster Virus Specific T Cells In Skin and Blood During Ageing Milica Vukmanovic-Stejic1, Daisy Sandhu 1,2, Judith A. Seidel1, Neil Patel1,2, Toni O. Sobande 1, Elaine Agius1,2, Sarah E. Jackson1, Judilyn Fuentes-Duculan3, Mayte Suarez- Farinas 3, Neil A. Mabbott4, Katie E. Lacy5, Graham Ogg6 , Frank O Nestle5, James G. Krueger 3, Malcolm H.A. Rustin 2, Arne N. Akbar 1 1Division of Infection and Immunity, University College London, London, W1T 4JF, England, United Kingdom. 2 Department of Dermatology, Royal Free Hospital, London, NW3 2QG, England, United Kingdom. 3Laboratory for Investigative Dermatology, Rockefeller University, New York, NY 10021, USA 4The Roslin Institute and Royal (Dick) School of Veterinary Studies, University of Edinburgh, Easter Bush, Midlothian, EH25 9RG, UK 5 St. Johns Institute of Dermatology, Guys and St. Thomas' Hospital, London. 6 MRC Human Immunology Unit, University of Oxford, NIHR Biomedical Research Centre, Oxford, UK Corresponding author: Professor Arne N. Akbar, or Dr M Vukmanovic-Stejic, tel: +44-20-31082172/ 02031082173 E-mail: [email protected] or [email protected] 1 This work was funded by grants from the Medical Research Council, the Biotechnology and Biological Sciences Research Council, The British Skin Foundation and Dermatrust. Key words: T cell, memory, skin resident, antigen-specific, ageing Abbreviations: VZV (varicella zoster virus), Treg (regulatory T cells), CMV (cytomegalovirus), HSV (herpes simplex virus), Running title: Effects of age on VZV specific T cells in blood and skin 2 ABSTRACT The varicella-zoster virus (VZV) re-activation increases during ageing. Although the effects of VZV re-activation are observed in the skin (shingles) the number or functional capacity of cutaneous VZV specific T cells have not been investigated. -
Proquest Dissertations
nm u Ottawa L'Universite canadienne Canada's university run FACULTE DES ETUDES SUPERIEURES l=J FACULTY OF GRADUATE AND ET POSTOCTORALES U Ottawa POSDOCTORAL STUDIES L'Unneisue <anadiemie Canada's university Matias Alvarez-Saavedra AUTEUR DE LA THESE / AUTHOR OF THESIS M.Sc. (Biochemistry) GRADE/DEGREE Department of Biochemistry, Microbiology and Immunology MicroRNA-132-Dependent Post-Transcriptional Regulation of Clock Entrainment Physiology Via Modulation of Chromatin Remodeling and Translational Control Gene Targets TITRE DE LA THESE / TITLE OF THESIS Mary Cheng "WRKTEUTPRE^ CO-DIRECTEUR (CO-DIRECTRICE) DE LA THESE / THESIS CO-SUPERVISOR David Lohnes Adam Rudner Gary W. Slater Le Doyen de la Faculte des etudes superieures et postdoctorales / Dean of the Faculty of Graduate and Postdoctoral Studies MicroRNA-132-Dependent Post-Transcriptional Regulation of Clock Entrainment Physiology Via Modulation of Chromatin Remodeling and Translational Control Gene Targets M.Sc. Thesis in partial fulfillment of the requirements for the degree Master of Science (M.Sc.) in the Biochemistry Program at the University of Ottawa, Faculty of Medicine Ottawa, Ontario, Canada Sliihmil'l-P'rl hv " "J ©Matias Alberto Alvarez-Saavedra, Ottawa, Canada, 2010 1 Library and Archives Bibliotheque et 1*1 Canada Archives Canada Published Heritage Direction du Branch Patrimoine de I'edition 395 Wellington Street 395, rue Wellington Ottawa ON K1A 0N4 OttawaONK1A0N4 Canada Canada Your file Votre reference ISBN: 978-0-494-73802-3 Our file Notre r6f6rence ISBN: 978-0-494-73802-3 -
University of Florida Thesis Or Dissertation Formatting
GENE EXPRESSION ANALYSIS DURING WEST NILE VIRUS DISEASE, INFECTION, AND RECOVERY By MELISSA ANN BOURGEOIS, DVM A DISSERTATION PRESENTED TO THE GRADUATE SCHOOL OF THE UNIVERSITY OF FLORIDA IN PARTIAL FULFILLMENT OF THE REQUIREMENTS FOR THE DEGREE OF DOCTOR OF PHILOSOPHY UNIVERSITY OF FLORIDA 2010 1 © 2010 Melissa Ann Bourgeois 2 To my parents and my sister, for their unfailing support and unconditional love throughout the years 3 ACKNOWLEDGMENTS I thank the members of the Long lab at the University of Florida, including Maureen Long, Sally Beachboard, Katie Maldonado, Kathy Seino, and Deanne Fanta for their invaluable assistance over the entire course of this project. I also thank the members of my committee, Maureen Long, Nancy Denslow, Paul Gibbs, David Allred, David Bloom, and James Maruniak for their wonderful insight and contributions to the evolution and progression of this project. I thank the members of the UF Interdisciplinary Centers for Biotechnology and Research, Gigi Ostrow, Li Liu, and Savita Shanker for their help in accomplishing different portions of this project. And finally, I thank my wonderful family and friends for their unfailing support throughout the entire course of my graduate degree. This project was funded with a grant from the USF Centers for Biological Defense. 4 TABLE OF CONTENTS page ACKNOWLEDGMENTS .................................................................................................. 4 LIST OF FIGURES ......................................................................................................... -
Molekulargenetische Charakterisierung Konstitutioneller Chromosomaler Translokationen Zur Positionsklonierung Krankheitsverursachender Gene
Molekulargenetische Charakterisierung konstitutioneller chromosomaler Translokationen zur Positionsklonierung krankheitsverursachender Gene Der Naturwissenschaftlichen Fakultät der Friedrich-Alexander Universität Erlangen-Nürnberg zur Erlangung des Doktorgrades Dr. rer. nat. vorgelegt von Michael Kraft aus Forchheim Als Dissertation genehmigt von der Naturwissenschaftlichen Fakultät der Friedrich-Alexander-Universität Erlangen-Nürnberg Tag der mündlichen Prüfung: 20.02.2013 Vorsitzender der Promotionskommission: Prof. Dr. J. Barth Erstberichterstatter: Prof. Dr. Reis Zweitberichterstatter: Prof. Dr. Slany Inhaltsverzeichnis 1 Einleitung ..................................................................................................... 1 1.1 Positionsklonierung krankheitsverursachender Gene ............................. 1 1.1.1 Methoden der Positionsklonierung ......................................................... 2 1.1.2 Positionsklonierung unter Verwendung Phänotyp-assoziierter, balancierter Translokationen ................................................................. 3 1.2 Zielsetzung ............................................................................................. 6 2 Material und Methoden ................................................................................. 7 2.1 Patienten ................................................................................................ 7 2.1.1 Patient 46,XY,t(10;13) – Noonan-Syndrome-Like .................................... 8 2.1.2 Patientin 46,XX,t(1;8) – Adipositas -
ABSTRACT Gene Expression Profiling to Understand the Alterations In
ABSTRACT Gene Expression Profiling to Understand the Alterations in the Monocyte Compartment of Pediatric Systemic Lupus Erythematosus Pinakeen Shankarbhai Patel, Ph.D. Mentors: Virginia Pascual, M.D. Jacques Banchereau, Ph.D. Blood monocytes from SLE patients display DC function, as they are able to induce the proliferation of allogeneic T cells. Furthermore, sera from SLE patients induce healthy monocytes to differentiate into DCs. This DC-inducing property is in part due to the presence of type-I IFNs in SLE sera, as well as other, yet uncharacterized factors. To understand these alterations, we performed a thorough phenotypic analysis and gene expression profiling of monocytes from children with active, newly diagnosed and untreated disease. Phenotypic analysis of freshly isolated SLE blood monocytes revealed a modest expansion of CD14highCD16+ cells and an otherwise lack of expression of molecules related to DC function. Further characterization of a fraction of SLE monocytes inducing allogeneic T cell proliferation revealed that upon contact with T cells, SLE monocytes secrete proinflammatory cytokines such as IL-1 and IL-6 and do upregulate expression of innate immunity receptors involved in DC differentiation and molecules responsible for antigen presentation. To recapitulate the initial events leading to monocyte differentiation in this disease, we studied the effects of SLE serum on healthy monocyte at the trasncriptional and protein levels. These studies revealed the upregulation of expression on these cells of chemokine receptor such as CX3CR1 and CCR7, which may lead to the migration of blood monocytes to inflammed tissues and/or secondary lymphoid organs respectively in vivo. There, contact with T cells would lead to the acquisition of antigen presenting function and skewing from tolerogenic to immunogenic responses. -
(Title of the Thesis)*
THE IDENTIFICATION OF BRCA1 AND BRCA2 MUTATION CARRIERS USING FUNCTIONAL GENOMIC ASSAYS by Claire S. Michel A thesis submitted to the Department of Pathology & Molecular Medicine In conformity with the requirements for the degree of Master of Science Queen’s University Kingston, Ontario, Canada March, 2008 Copyright © Claire S. Michel, 2008 Abstract An estimated 5-10% of breast cancers are hereditary in nature and are due to the presence of a mutation in a breast cancer predisposition gene; approximately half of these cases possess a mutation in BRCA1 or BRCA2. Many BRCA1/BRCA2 mutations result in a truncated protein and hence are unequivocally disease-causing. However another class of mutations, the Variants of Unknown Significance (VUS), are more problematic as the effect of these mutations on protein function is unclear. The inability to classify these mutations as disease causing generates significant problems in risk evaluation, counseling and preventive care. Accordingly we sought to determine whether carriers of either a BRCA1 or BRCA2 mutation could be identified from non- carriers based on the gene expression patterns of non-cancerous cells. EBV-transformed lymphoblastoid cell lines established from BRCA1/BRCA2 mutation carriers and normal individuals were obtained through the NIH Breast Cancer Family Registries. Cell lines were mock-irradiated or treated with ionizing radiation (2 Gy). Following a recovery period of 6 hours total RNA was extracted and whole genome gene expression profiling was carried out. Molecular classifiers comparing the baseline expression profiles and the radiation- dependent expression profiles of BRCA1/BRCA2 mutation carriers to control individuals were created using a Support Vector Machine (SVM) coupled with a recursive feature removal (RFR) algorithm. -
Bangor University DOCTOR of PHILOSOPHY a Novel Mirna Cluster Within the Circadian Clock Gene NPAS2 and the Implications of Rs181
Bangor University DOCTOR OF PHILOSOPHY A novel miRNA cluster within the circadian clock gene NPAS2 and the implications of rs1811399, an autism enriched single nucleotide polymorphism Jones, Dylan Award date: 2014 Awarding institution: Bangor University Link to publication General rights Copyright and moral rights for the publications made accessible in the public portal are retained by the authors and/or other copyright owners and it is a condition of accessing publications that users recognise and abide by the legal requirements associated with these rights. • Users may download and print one copy of any publication from the public portal for the purpose of private study or research. • You may not further distribute the material or use it for any profit-making activity or commercial gain • You may freely distribute the URL identifying the publication in the public portal ? Take down policy If you believe that this document breaches copyright please contact us providing details, and we will remove access to the work immediately and investigate your claim. Download date: 07. Oct. 2021 A novel miRNA cluster within the circadian clock gene NPAS2 and the implications of rs1811399, an autism enriched single nucleotide polymorphism. Thesis submitted in accordance with the requirements of Bangor University for the degree of Doctor in Philosophy Dylan Wyn Jones Bangor University, UK School of Biological Sciences December 2014 ACKNOWLEDGMENTS I would like to extend my deepest thanks to Dr Thomas Caspari for taking on this difficult project and entrusting me to deliver the result. I am grateful for all his work and insight into the scientific process.