Unravelling the Cell Adhesion Defect in Meckel-Gruber Syndrome
Total Page:16
File Type:pdf, Size:1020Kb
Load more
Recommended publications
-
The Many Links Between Wnt Signaling, Planar Cell Polarity, and Cilia
Downloaded from genesdev.cshlp.org on September 23, 2021 - Published by Cold Spring Harbor Laboratory Press REVIEW Strange as it may seem: the many links between Wnt signaling, planar cell polarity, and cilia John B. Wallingford1,3 and Brian Mitchell2 1Howard Hughes Medical Institute, Section of Molecular Cell and Developmental Biology, Institute for Cellular and Molecular Biology, University of Texas, Austin, Texas 78712, USA; 2Department of Cell and Molecular Biology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois 60611, USA Cilia are important cellular structures that have been im- alterations of Hh signaling, leading to the hypothesis that plicated in a variety of signaling cascades. In this review, primary cilia might act more generally as cellular anten- we discuss the current evidence for and against a link nae for a variety of cell signaling events, including PDGF between cilia and both the canonical Wnt/b-catenin signaling, sensory taste signaling, and Wnt signaling pathway and the noncanonical Wnt/planar cell polarity (Schneider et al. 2005; Simons et al. 2005; Shah et al. (PCP) pathway. Furthermore, we address the evidence 2009). A general role for cilia in signaling is appealing implicating a role for PCP components in ciliogenesis. given the recent string of studies showing that entry into Given the lack of consensus in the field, we use new data the cilium is a tightly regulated process. Modulating on the control of ciliary protein localization as a basis for ciliary localization of signal transducers could be a mech- proposing new models by which cell type-specific regu- anism for ‘‘tuning’’ cilia to be more or less sensitive to a lation of ciliary components via differential transport, given signal. -
SYMPOSIUM References 1
J Orthopaed Traumatol (2008): 24 November 2008 DOI 10.1007/s10195-008-0030-6 24 NOVEMBER 2008 SYMPOSIUM References 1. Pola E, Lattanzi W, Pecorini G, Logroscino CA, Robbins PD (2005) Gene therapy for in vivo bone formation: recent TISSUE ENGINEERING advances. Eur Rev Med Pharmacol Sci 9(3):167–174 2. Pola E, Gao W, Zhou Y, Pola R, Lattanzi W, Sfeir C, et al (2004) A CLINICALLY RELEVANT GENE THERAPY APPROACH Efficient bone formation by gene transfer of human LIM miner- TO INDUCE OSTEOGENESIS: STUDY OF THE NEW alization protein-3. Gene Ther 11(8):683 –693 GROWTH FACTOR LIM MINERALIZAZION PROTEIN-3 3. Lattanzi W, Parrilla C, Fetoni A, Logroscino G, Straface G, Pecorini G, Tampieri A, Bedini R, Pecci R, Michetti F, E. Pola Gambotto A, Robbins PD, Pola E (2008) Ex-vivo transduced autologous skin fibroblasts expressing human Lim Minera - Department of Orthopaedics and Traumatology, Università lization Protein-3 efficiently form new bone in animal models. Cattolica del Sacro Cuore, School of Medicine (Rome-IT) Gene Therapy [Epub ahead of print] Recombinant proteins, such as the bone morphogenetic proteins have been used to enhance repair of non-union fractures and facil- TYPE-I COLLAGEN MEMBRANE AS A SCAFFOLD FOR itate new bone formation in animal models as well as in clinical TENDON REPAIR: AN IN VITRO AND IN VIVO STUDY applications. However, a significant amount of recombinant BMP is required to promote osteogenesis and frequently the extent of A. Gigante, E. Cesari, A. Busilacchi, S. Manzotti, F. Greco new bone formation is low. In contrast, local gene transfer of BMPs has been shown to be more efficient in promoting osteogenesis in Department of Orthopaedics, Polytechnic University of Marche rodents than the use of recombinant proteins. -
Data Mining the Genetics of Leukemia
Data Mining the Genetics of Leukemia by Geoff Morton A thesis submitted to the School of Computing in conformity with the requirements for the degree of Master of Science Queen's University Kingston, Ontario, Canada January 2010 Copyright °c Geo® Morton, 2010 Library and Archives Bibliothèque et Canada Archives Canada Published Heritage Direction du Branch Patrimoine de l’édition 395 Wellington Street 395, rue Wellington Ottawa ON K1A 0N4 Ottawa ON K1A 0N4 Canada Canada Your file Votre référence ISBN: 978-0-494-65049-3 Our file Notre référence ISBN: 978-0-494-65049-3 NOTICE: AVIS: The author has granted a non- L’auteur a accordé une licence non exclusive exclusive license allowing Library and permettant à la Bibliothèque et Archives Archives Canada to reproduce, Canada de reproduire, publier, archiver, publish, archive, preserve, conserve, sauvegarder, conserver, transmettre au public communicate to the public by par télécommunication ou par l’Internet, prêter, telecommunication or on the Internet, distribuer et vendre des thèses partout dans le loan, distribute and sell theses monde, à des fins commerciales ou autres, sur worldwide, for commercial or non- support microforme, papier, électronique et/ou commercial purposes, in microform, autres formats. paper, electronic and/or any other formats. The author retains copyright L’auteur conserve la propriété du droit d’auteur ownership and moral rights in this et des droits moraux qui protège cette thèse. Ni thesis. Neither the thesis nor la thèse ni des extraits substantiels de celle-ci substantial extracts from it may be ne doivent être imprimés ou autrement printed or otherwise reproduced reproduits sans son autorisation. -
(12) Patent Application Publication (10) Pub. No.: US 2014/0304845 A1 Loboda Et Al
US 201403.04845A1 (19) United States (12) Patent Application Publication (10) Pub. No.: US 2014/0304845 A1 Loboda et al. (43) Pub. Date: Oct. 9, 2014 54) ALZHEMIERS DISEASE SIGNATURE Publicationublication ClassificatiClassification MARKERS AND METHODS OF USE (51) Int. Cl. (71) Applicant: MERCKSHARP & DOHME CORP, CI2O I/68 (2006.01) Rahway, NJ (US) AOIK 67/027 (2006.01) (52) U.S. Cl. (72) Inventors: SIES yet.sS); CPC .......... CI2O I/6883 (2013.01); A0IK 67/0275 Icnaei NepoZnyn, Yeadon, (2013.01) le.East,Italia; David J. Stone, Wyncote, USPC .............. 800/12:536/23.5:536/23.2:506/17 (US); Keith Tanis, Quakertown, PA (US); William J. Ray, Juniper, FL (US) (57) ABSTRACT (21) Appl. No.: 14/354,622 Methods, biomarkers, and expression signatures are dis 1-1. closed for assessing the disease progression of Alzheimer's (22) PCT Filed: Oct. 26, 2012 disease (AD). In one embodiment, BioAge (biological age), NdStress (neurodegenerative stress), Alz (Alzheimer), and (86). PCT No.: PCT/US12A62218 Inflame (inflammation) are used as biomarkers of AD pro S371 (c)(1), gression. In another aspect, the invention comprises a gene (2), (4) Date: Apr. 28, 2014 signature for evaluating disease progression. In still another Related U.S. Application Data abiliticises in (60) Provisional application No. 61/553,400, filed on Oct. used to identify animal models for use in the development and 31, 2011. evaluation of therapeutics for the treatment of AD. Patent Application Publication Oct. 9, 2014 Sheet 1 of 16 US 2014/0304845 A1 Y : : O O O O O O O O D O v v CN On cy Patent Application Publication Oct. -
Modeling Ciliopathies: Primary Cilia in Development and Disease
CHAPTER FIVE Modeling Ciliopathies: Primary Cilia in Development and Disease Robyn J. Quinlan, Jonathan L. Tobin, and Philip L. Beales Contents 1. The Human Ciliopathies 250 2. Bardet-Biedl Syndrome 251 3. Alstro¨m Syndrome 263 4. Polycystic Kidney Disease 264 5. Nephronophthisis 265 6. Meckel Syndrome 267 7. Joubert Syndrome 268 8. Jeune Syndrome 269 9. Oral–Facial–Digital Syndrome 269 10. The Structure and Function of the Cilium 270 10.1. The structure of primary cilia 270 10.2. Intraflagellar transport 272 10.3. IFT and ciliopathies 272 11. Cilia and Development 276 11.1. Left–right determination 276 11.2. Hedgehog signaling in ciliopathies 277 11.3. Cilia and polarity 280 11.4. Cilia and cystogenesis in mammals 283 11.5. Cilia and obesity 286 12. Therapies for Cystic Disease 287 13. Concluding Remarks 289 References 292 Abstract Primary (nonmotile) cilia are currently enjoying a renaissance in light of novel ascribed functions ranging from mechanosensory to signal transduction. Their importance for key developmental pathways such as Sonic Hedgehog (Shh) and Wnt is beginning to emerge. The function of nodal cilia, for example, is vital for Molecular Medicine Unit, Institute of Child Health, University College London, London, WC1N1EH, United Kingdom Current Topics in Developmental Biology, Volume 84 # 2008 Elsevier Inc. ISSN 0070-2153, DOI: 10.1016/S0070-2153(08)00605-4 All rights reserved. 249 250 Robyn J. Quinlan et al. breaking early embryonic symmetry, Shh signaling is important for tissue morphogenesis and successful Wnt signaling for organ growth and differentia- tion. When ciliary function is perturbed, photoreceptors may die, kidney tubules develop cysts, limb digits multiply and brains form improperly. -
HOXD8 Exerts a Tumor-Suppressing Role in Colorectal Cancer As an Apoptotic Inducer
HOXD8 exerts a tumor-suppressing role in colorectal cancer as an apoptotic inducer Mohammed A. Mansour1, Takeshi Senga2 1Biochemistry Division, Department of Chemistry, Faculty of Science, Tanta University, Tanta 31527, Egypt 2Division of Cancer Biology, Nagoya University Graduate School of Medicine, 65 Tsurumai, Showa, Nagoya, 466-8550 Japan Address correspondence to: Mohammed A. Mansour; Biochemistry division, Department of Chemistry, Faculty of Science, Tanta University, Tanta 31527, Egypt; E-mail: [email protected] Running title: HOXD8 suppresses colorectal cancer progression Keywords: Colorectal Cancer; HOXD8; homology modeling; TCGA; STK38; MYC; Apoptosis Conflict-of-interest statement: The authors declare that they have no conflict of interest. The data sharing statement: No additional data are available. Abstract Homeobox (HOX) genes are conserved transcription factors which determine the anterior- posterior body axis patterning. HOXD8 is a member of HOX genes deregulated in several tumors such as lung carcinoma, neuroblastoma, glioma and colorectal cancer (CRC) in a context-dependent manner. In CRC, HOXD8 is downregulated in cancer tissues and metastatic foci as compared to normal tissues. Whether HOXD8 acts as a tumor suppressor of malignant progression and metastasis is still unclear. Also, the underlying mechanism of its function including the downstream targets is totally unknown. Here, we clarified the lower expression of HOXD8 in clinical colorectal cancer vs. normal colon tissues. Also, we showed that stable expression of HOXD8 in colorectal cancer cells significantly reduced the cell proliferation, anchorage-independent growth and invasion. Further, using The Cancer Genome Atlas (TCGA), we identified the genes associated with HOXD8 in order to demonstrate its function as a suppressor or a promoter of colorectal carcinoma. -
Arnau Soler2019.Pdf
This thesis has been submitted in fulfilment of the requirements for a postgraduate degree (e.g. PhD, MPhil, DClinPsychol) at the University of Edinburgh. Please note the following terms and conditions of use: This work is protected by copyright and other intellectual property rights, which are retained by the thesis author, unless otherwise stated. A copy can be downloaded for personal non-commercial research or study, without prior permission or charge. This thesis cannot be reproduced or quoted extensively from without first obtaining permission in writing from the author. The content must not be changed in any way or sold commercially in any format or medium without the formal permission of the author. When referring to this work, full bibliographic details including the author, title, awarding institution and date of the thesis must be given. Genetic responses to environmental stress underlying major depressive disorder Aleix Arnau Soler Doctor of Philosophy The University of Edinburgh 2019 Declaration I hereby declare that this thesis has been composed by myself and that the work presented within has not been submitted for any other degree or professional qualification. I confirm that the work submitted is my own, except where work which has formed part of jointly-authored publications has been included. My contribution and those of the other authors to this work are indicated below. I confirm that appropriate credit has been given within this thesis where reference has been made to the work of others. I composed this thesis under guidance of Dr. Pippa Thomson. Chapter 2 has been published in PLOS ONE and is attached in the Appendix A, chapter 4 and chapter 5 are published in Translational Psychiatry and are attached in the Appendix C and D, and I expect to submit chapter 6 as a manuscript for publication. -
Variable Gearing in Pennate Muscles
Variable gearing in pennate muscles Emanuel Azizi*, Elizabeth L. Brainerd, and Thomas J. Roberts Department of Ecology and Evolutionary Biology, Brown University, Providence, RI 02912 Edited by Ewald R. Weibel, University of Bern, Bern, Switzerland, and approved December 3, 2007 (received for review September 27, 2007) Muscle fiber architecture, i.e., the physical arrangement of fibers within a muscle, is an important determinant of a muscle’s me- chanical function. In pennate muscles, fibers are oriented at an angle to the muscle’s line of action and rotate as they shorten, becoming more oblique such that the fraction of force directed along the muscle’s line of action decreases throughout a contrac- tion. Fiber rotation decreases a muscle’s output force but increases output velocity by allowing the muscle to function at a higher gear ratio (muscle velocity/fiber velocity). The magnitude of fiber rota- tion, and therefore gear ratio, depends on how the muscle changes shape in the dimensions orthogonal to the muscle’s line of action. Here, we show that gear ratio is not fixed for a given muscle but decreases significantly with the force of contraction (P < 0.0001). We find that dynamic muscle-shape changes promote fiber rota- tion at low forces and resist fiber rotation at high forces. As a result, gearing varies automatically with the load, to favor velocity output during low-load contractions and force output for contractions against high loads. Therefore, muscle-shape changes act as an automatic transmission system allowing a pennate muscle to shift Fig. 1. A 17th century geometric examination of muscle architecture (5). -
The Role of Primary Cilia in the Pathophysiology of Neural Tube Defects
Neurosurg Focus 33 (4):E2, 2012 The role of primary cilia in the pathophysiology of neural tube defects TIMOTHY W. VOGEL, M.D.,1 CALVIN S. CARTER, B.S.,2 KINGSLEY ABODE-IYAMAH, M.D.,3 QIHONG ZHANG, PH.D.,2 AND SHENANDOAH ROBINSON, M.D.1 1Department of Neurosurgery, Children’s Hospital Boston, Harvard Medical School, Boston, Massachusetts; and 2Graduate Program in Neuroscience, 3Department of Neurosurgery, University of Iowa, Iowa City, Iowa Neural tube defects (NTDs) are a set of disorders that occur from perturbation of normal neural development. They occur in open or closed forms anywhere along the craniospinal axis and often result from a complex interaction between environmental and genetic factors. One burgeoning area of genetics research is the effect of cilia signaling on the developing neural tube and how the disruption of primary cilia leads to the development of NTDs. Recent progress has implicated the hedgehog (Hh), wingless-type integration site family (Wnt), and planar cell polarity (PCP) pathways in primary cilia as involved in normal neural tube patterning. A set of disorders involving cilia func- tion, known as ciliopathies, offers insight into abnormal neural development. In this article, the authors discuss the common ciliopathies, such as Meckel-Gruber and Joubert syndromes, that are associated with NTDs, and review cil- ia-related signaling cascades responsible for mammalian neural tube development. Understanding the contribution of cilia in the formation of NTDs may provide greater insight into this common set of -
Qt38n028mr Nosplash A3e1d84
! ""! ACKNOWLEDGEMENTS I dedicate this thesis to my parents who inspired me to become a scientist through invigorating scientific discussions at the dinner table even when I was too young to understand what the hippocampus was. They also prepared me for the ups and downs of science and supported me through all of these experiences. I would like to thank my advisor Dr. Elizabeth Blackburn and my thesis committee members Dr. Eric Verdin, and Dr. Emmanuelle Passegue. Liz created a nurturing and supportive environment for me to explore my own ideas, while at the same time teaching me how to love science, test my questions, and of course provide endless ways to think about telomeres and telomerase. Eric and Emmanuelle both gave specific critical advice about the proper experiments for T cells and both volunteered their lab members for further critical advice. I always felt inspired with a sense of direction after thesis committee meetings. The Blackburn lab is full of smart and dedicated scientists whom I am thankful for their support. Specifically Dr. Shang Li and Dr. Brad Stohr for their stimulating scientific debates and “arguments.” Dr. Jue Lin, Dana Smith, Kyle Lapham, Dr. Tet Matsuguchi, and Kyle Jay for their friendships and discussions about what my data could possibly mean. Dr. Eva Samal for teaching me molecular biology techniques and putting up with my late night lab exercises. Beth Cimini for her expertise with microscopy, FACs, singing, and most of all for being a caring and supportive friend. Finally, I would like to thank Dr. Imke Listerman, my scientific partner for most of the breast cancer experiments. -
Estudo De Associação Genética Em Larga Escala Identifica Potenciais Regiões Candidatas Para O Bruxismo Do Sono
Rosalvo Amaral Junior Estudo de associação genética em larga escala identifica potenciais regiões candidatas para o bruxismo do sono Dissertação apresentada à Universidade Federal de São Paulo – Escola Paulista de Medicina, para obtenção do Título de Mestre em Ciências São Paulo 2017 Rosalvo Amaral Junior Estudo de associação genética em larga escala identifica potenciais regiões candidatas para o bruxismo do sono Dissertação apresentada à Universidade Federal de São Paulo – Escola Paulista de Medicina, para obtenção do Título de Mestre em Ciências Orientadora: Profa. Dra. Monica Levy Andersen Coorientadora: Dra. Camila Hirotsu São Paulo 2017 Amaral Junior, Rosalvo Estudo de associação genética em larga escala identifica potenciais regiões candidatas para o bruxismo do sono/ Rosalvo Amaral Junior. São Paulo, 2017. xxiii, 100f. Dissertação (Mestrado) – Universidade Federal de São Paulo. Escola Paulista de Medicina. Programa de Pós -graduação em Psicobiologia. Título em inglês: Genome-wide association study identifies potential candidate gene regions for sleep bruxism. 1. Bruxismo do sono. 2. Genética. 3. Polimorfismo. 4. Polissonografia. Rosalvo Amaral Junior UNIVERSIDADE FEDERAL DE SÃO PAULO ESCOLA PAULISTA DE MEDICINA DEPARTAMENTO DE PSICOBIOLOGIA Chefe do Departamento: Prof. Dr. José Carlos Fernandes Galduróz Coordenadora do Curso de Pós-graduação: Profa. Dra. Débora Cristina Hipólide iii Rosalvo Amaral Junior Estudo de associação genética em larga escala identifica potenciais regiões candidatas para o bruxismo do sono Presidente da -
WO 2011/084768 Al
(12) INTERNATIONAL APPLICATION PUBLISHED UNDER THE PATENT COOPERATION TREATY (PCT) (19) World Intellectual Property Organization International Bureau (10) International Publication Number (43) International Publication Date _ . ... _ . 14 July 2011 (14.07.2011) WO 2011/084768 Al (51) International Patent Classification: Ridge, Loveland, OH 45 140 (US). ARONHALT, Tay¬ A61B 17/00 (2006.01) A61B 19/10 (2006.01) lor, W. [US/US]; 306 Beech Road, Loveland, OH 45140 (US). (21) International Application Number: PCT/US20 10/06 1422 (74) Agents: JOHNSON, Philip, S. et al; Johnson & John son, 1 Johnson & Johnson Plaza, New Brunswick, NJ (22) International Filing Date: 08933 (US). 2 1 December 2010 (21 .12.2010) (81) Designated States (unless otherwise indicated, for every (25) Filing Language: English kind of national protection available): AE, AG, AL, AM, (26) Publication Langi English AO, AT, AU, AZ, BA, BB, BG, BH, BR, BW, BY, BZ, CA, CH, CL, CN, CO, CR, CU, CZ, DE, DK, DM, DO, (30) Priority Data: DZ, EC, EE, EG, ES, FI, GB, GD, GE, GH, GM, GT, 61/288,375 2 1 December 2009 (21 .12.2009) US HN, HR, HU, ID, JL, IN, IS, JP, KE, KG, KM, KN, KP, 12/971,249 17 December 2010 (17.12.2010) US KR, KZ, LA, LC, LK, LR, LS, LT, LU, LY, MA, MD, (71) Applicant (for all designated States except US): ME, MG, MK, MN, MW, MX, MY, MZ, NA, NG, NI, ETHICON ENDO-SURGERY, INC. [US/US]; 4545 NO, NZ, OM, PE, PG, PH, PL, PT, RO, RS, RU, SC, SD, Creek Road, Cincinnati, OH 45242 (US).