June 2020 Volume 41 Pp 943–1134
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Genetic Mutations and Mechanisms in Dilated Cardiomyopathy
Genetic mutations and mechanisms in dilated cardiomyopathy Elizabeth M. McNally, … , Jessica R. Golbus, Megan J. Puckelwartz J Clin Invest. 2013;123(1):19-26. https://doi.org/10.1172/JCI62862. Review Series Genetic mutations account for a significant percentage of cardiomyopathies, which are a leading cause of congestive heart failure. In hypertrophic cardiomyopathy (HCM), cardiac output is limited by the thickened myocardium through impaired filling and outflow. Mutations in the genes encoding the thick filament components myosin heavy chain and myosin binding protein C (MYH7 and MYBPC3) together explain 75% of inherited HCMs, leading to the observation that HCM is a disease of the sarcomere. Many mutations are “private” or rare variants, often unique to families. In contrast, dilated cardiomyopathy (DCM) is far more genetically heterogeneous, with mutations in genes encoding cytoskeletal, nucleoskeletal, mitochondrial, and calcium-handling proteins. DCM is characterized by enlarged ventricular dimensions and impaired systolic and diastolic function. Private mutations account for most DCMs, with few hotspots or recurring mutations. More than 50 single genes are linked to inherited DCM, including many genes that also link to HCM. Relatively few clinical clues guide the diagnosis of inherited DCM, but emerging evidence supports the use of genetic testing to identify those patients at risk for faster disease progression, congestive heart failure, and arrhythmia. Find the latest version: https://jci.me/62862/pdf Review series Genetic mutations and mechanisms in dilated cardiomyopathy Elizabeth M. McNally, Jessica R. Golbus, and Megan J. Puckelwartz Department of Human Genetics, University of Chicago, Chicago, Illinois, USA. Genetic mutations account for a significant percentage of cardiomyopathies, which are a leading cause of conges- tive heart failure. -
Fish Mutant, Where Is Thy Phenotype?
PERSPECTIVE Fish mutant, where is thy phenotype? Darius Balciunas* Department of Biology, Temple University, Philadelphia, Pennsylvania, United States of America * [email protected] The field of genetics emerged as a study of the inheritance of desirable or otherwise interesting traits. Mutations were characterized as recessive or dominant, assigned to complementation groups, mapped, and finally, the affected genes were identified. By default, recessive mutations could only be isolated in genes that played an important role in the biological process of inter- est, be it pea color or segmentation pattern of the fruit fly embryo. As methodologies to mutate specific genes in various model systems were developed, scien- tists began to employ reverse genetics, whereby a gene of interest is selected and a mutant is generated. Ideally, the mutant displays a phenotype that can be studied (green panels in Fig 1). Such best-case scenarios pose the danger of confirmation bias ([1] and references therein). It may therefore be prudent to validate the phenotype by engineering an independent mutant allele. This is especially straightforward in zebrafish, given that targeted mutagenesis using CRISPR/Cas9 requires relatively little effort [2±4]. In zebrafish, the phenotype may also be confirmed by performing knockdown using morpholino oligonucleotides [5±6]. a1111111111 Real experiments rarely follow best-case scenarios, and very frequently, mutants generated a1111111111 by reverse genetics fail to display overt phenotypes. Are the majority of protein-coding genes a1111111111 indeed not required, often despite a very high degree of evolutionary conservation? Genetic a1111111111 redundancy, most obviously in the form of homologous or duplicated genes, certainly contrib- a1111111111 utes to a lack of mutant phenotypes. -
Limb-Girdle Muscular Dystrophy
www.ChildLab.com 800-934-6575 LIMB-GIRDLE MUSCULAR DYSTROPHY What is Limb-Girdle Muscular Dystrophy? Limb-Girdle Muscular Dystrophy (LGMD) is a group of hereditary disorders that cause progressive muscle weakness and wasting of the shoulders and pelvis (hips). There are at least 13 different genes that cause LGMD, each associated with a different subtype. Depending on the subtype of LGMD, the age of onset is variable (childhood, adolescence, or early adulthood) and can affect other muscles of the body. Many persons with LGMD eventually need the assistance of a wheelchair, and currently there is no cure. How is LGMD inherited? LGMD can be inherited by autosomal dominant (AD) or autosomal recessive (AR) modes. The AR subtypes are much more common than the AD types. Of the AR subtypes, LGMD2A (calpain-3) is the most common (30% of cases). LGMD2B (dysferlin) accounts for 20% of cases and the sarcoglycans (LGMD2C-2F) as a group comprise 25%-30% of cases. The various subtypes represent the different protein deficiencies that can cause LGMD. What testing is available for LGMD? Diagnosis of the LGMD subtypes requires biochemical and genetic testing. This information is critical, given that management of the disease is tailored to each individual and each specific subtype. Establishing the specific LGMD subtype is also important for determining inheritance and recurrence risks for the family. The first step in diagnosis for muscular dystrophy is usually a muscle biopsy. Microscopic and protein analysis of the biopsy can often predict the type of muscular dystrophy by analyzing which protein(s) is absent. A muscle biopsy will allow for targeted analysis of the appropriate LGMD gene(s) and can rule out the diagnosis of the more common dystrophinopathies (Duchenne and Becker muscular dystrophies). -
Table of Contents
Table of Contents 1. - EXAMINING ATTITUDES AND WILLINGNESS TO PAY FOR AQUACULTURED SEAFOOD ATTRIBUTES I. Ko Britwum * II. Caroline Noblet 2. - Development of a Hybrid Thermoplastic Composite and Concrete Deck System I. Benjamin Smith * II. William Davids 3. - Undergraduate Nursing Students’ Perspectives and Attitudes Caring for Elderly Patients at End of Life I. Karen Chase * II. Patricia Poirier 4. - Backpack Programs: How Maine Elementary Schools Are Tackling Childhood Hunger I. Julianna Acheson * II. Julia Van Steenberge III. Dean Rando IV. Ashlee Atchinson V. Sandra Caron 5. - Using Structure from Motion and 3D Printing as a Method for Preserving the Petroglyphs of Machias Bay, Maine I. Kendra Bird * II. Lisa Neuman 6. - Capacity Assessment of Older T-Beam Bridges Using Field Load Testing and Nonlinear Proxy Finite-Element Analysis I. Andrew Schanck * II. William Davids 7. - Interventions Supporting Social Communication Skills in Preschool-Aged Children with Autism Spectrum Disorder I. Paige Hanson * II. Paige Castonguay III. Heather Lowry IV. Taylor Dupont V. Paige Lane 8. - Attitudes Towards Immigration Following the 2018 Family Separation Crisis: Content Analysis of Tweets in The Washington Post vs Fox News I. Rebecca Blodgett * II. Vincent Eze III. Ariana Cruwys IV. Sandra Caron 9. - Nurses Role in Central Line-Associated Bloodstream Infection Prevention I. Laura Roberts * II. Julia Schnee III. Bronwyn West IV. Alex Roderick V. Valerie Herbert 10. - Overwintering strategies of the salmon louse Lepeophtheirus salmonis I. Emma Taccardi * II. Carrie Byron III. Ian Bricknell 11. - The eects of diverse aged enrollment on community school literacy rates in rural Zambia: Case study on Impact Network International schools, Eastern Province Zambia I. -
Induced Early Expression of Mrf4 but Not Myog Rescues Myogenesis in the Myod/Myf5 Double- Morphant Zebrafish Embryo
Research Article 481 Induced early expression of mrf4 but not myog rescues myogenesis in the myod/myf5 double- morphant zebrafish embryo Esther Schnapp1,*, Anna Silvia Pistocchi2,*, Evangelia Karampetsou2, Efrem Foglia2, Carla Lora Lamia2, Franco Cotelli2,‡ and Giulio Cossu1,2,‡ 1Stem Cell Research Institute, DiBiT, San Raffaele Scientific Institute, 58 via Olgettina, 20132 Milan, Italy 2Department of Biology, University of Milan, 26 via Celoria, 20133 Milan, Italy *These authors contributed equally to this work ‡Authors for correspondence (e-mails: [email protected]; [email protected]) Accepted 13 October 2008 Journal of Cell Science 122, 481-488 Published by The Company of Biologists 2009 doi:10.1242/jcs.038356 Summary Muscle regulatory factors activate myogenesis in all vertebrates, inhibition, we were able to investigate how myogenesis occurs in but their role has been studied in great detail only in the mouse the absence of a myotome. We report that in the complete absence embryo, where all but myogenin – Myod, Myf5 and Mrf4 – are of a myotome, subsequent myogenesis is abolished, whereas sufficient to activate (albeit not completely) skeletal myogenesis. myogenesis does proceed, albeit abnormally, when the In the zebrafish embryo, myod and myf5 are required for morpholino inhibition was not complete. Therefore our data also induction of myogenesis because their simultaneous ablation show that the early myotome is essential for subsequent skeletal prevents muscle development. Here we show that mrf4 but not muscle differentiation and patterning in the zebrafish. myog can fully rescue myogenesis in the myod/myf5 double morphant via a selective and robust activation of myod, in keeping Supplementary material available online at with its chromatin-remodelling function in vitro. -
Characterization of Ncf1 Mutants in a Zebrafish Model of Innate Immune Function with Human Influenza a Virus Infection
The University of Maine DigitalCommons@UMaine Honors College Spring 5-2020 Characterization of ncf1 Mutants in a Zebrafish Model of Innate Immune Function with Human Influenza A Virus Infection Lily Charpentier Follow this and additional works at: https://digitalcommons.library.umaine.edu/honors Part of the Immunology and Infectious Disease Commons, Influenza Humans Commons, and the Virus Diseases Commons This Honors Thesis is brought to you for free and open access by DigitalCommons@UMaine. It has been accepted for inclusion in Honors College by an authorized administrator of DigitalCommons@UMaine. For more information, please contact [email protected]. CHARACTERIZATION OF NCF1 MUTANTS IN A ZEBRAFISH MODEL OF INNATE IMMUNE FUNCTION WITH HUMAN INFLUENZA A VIRUS INFECTION by Lily Charpentier A Thesis Submitted to Partial Fulfillment of the Requirements for a Degree with Honors (Biochemistry) The Honors College The University of Maine May 2020 Advisory Committee: Benjamin L. King, Assistant Professor of Bioinformatics, Advisor Edward Bernard, Lecturer & Undergraduate Coordinator of Molecular & Biomedical Sciences R.W. Estela, Honors Preceptor Sally D. Molloy, Assistant Professor of Genomics Robert Wheeler, Associate Professor of Microbiology ABSTRACT Seasonal influenza A virus (IAV) infections and their associated respiratory diseases are the cause of an estimated 650,000 deaths each year, according to the World Health Organization. The zebrafish (Danio rerio) is a powerful vertebrate model to study innate immune function and host-pathogen interactions as the function of neutrophils and other phagocytes can be characterized in vivo. Preliminary studies have shown an increase in neutrophil respiratory burst activity to eliminate the invading pathogen, yet little is known of all of the mechanisms involved in neutrophil function. -
Fukuyama-Type Congenital Muscular Dystrophy and Abnormal
Fukuyama-type Congenital Muscular Dystrophy and Abnormal Glycosylation of α-Dystroglycan Tatsushi Toda, Kazuhiro Kobayashi, Satoshi Takeda(1), Junko Sasaki, Hiroki Kurahashi, Hiroki Kano, Masaji Tachikawa, Fan Wang, Yoshitaka Nagai, Kiyomi Taniguchi, Mariko Taniguchi, Yoshihide Sunada(2), Toshio Terashima(3), Tamao Endo(4) and Kiichiro Matsumura(5) Division of Functional Genomics, Department of Post-Genomics and Diseases, Osaka University Graduate School of Medicine, Suita, (1) Otsuka GEN Research Institute, Otsuka Pharmaceutical Co. Ltd., Tokushima, (2) Department of Neurology, Kawasaki Medical School, Kurashiki, (3) Department of Anatomy and Neurobiology, Kobe University Graduate School of Medicine, Kobe, (4) Glycobiology Research Group, Tokyo Metropolitan Institute of Gerontology, Tokyo and (5) Department of Neurology, Teikyo University School of Medicine, Tokyo, Japan Abstract Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), and muscle-eye-brain (MEB) disease are clinically similar autosomal recessive disorders characterized by congenital muscular dystrophy, lissencephaly, and eye anomalies. We identified the gene for FCMD and MEB, which encodes the fukutin protein and the protein O-linked mannose β1, 2-N-acetylglucosaminyltransferase (POMGnT1), respectively. α-dystroglycan is a key component of the dystrophin-glycoprotein-complex, providing a tight linkage between the cell and basement membranes by binding laminin via its carbohydrate residues. Recent studies have revealed that posttranslational -
HHS Public Access Author Manuscript
HHS Public Access Author manuscript Author Manuscript Author ManuscriptNat Genet Author Manuscript. Author manuscript; Author Manuscript available in PMC 2015 November 01. Published in final edited form as: Nat Genet. 2015 May ; 47(5): 528–534. doi:10.1038/ng.3256. Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction Naiara Akizu1,2,3, Vincent Cantagrel4, Maha S. Zaki5, Lihadh Al-Gazali6, Xin Wang1,2, Rasim Ozgur Rosti1,2, Esra Dikoglu1,2, Antoinette Bernabe Gelot7,8, Basak Rosti1,2, Keith K. Vaux1,2, Eric M. Scott1,2, Jennifer L. Silhavy1,2, Jana Schroth1,2, Brett Copeland1,2, Ashleigh E. Schaffer1,2, Philip Gordts9, Jeffrey D. Esko9, Matthew D. Buschman10, Seth J. Fields10, Gennaro Napolitano11, R. Koksal Ozgul12, Mahmut Samil Sagiroglu13, Matloob Azam14, Samira Ismail5, Mona Aglan5, Laila Selim15, Iman Gamal15, Sawsan Abdel Hadi15, Amera El Badawy15, Abdelrahim A. Sadek16, Faezeh Mojahedi17, Hulya Kayserili18, Amira Masri19, Laila Bastaki20, Samia Temtamy5, Ulrich Müller3, Isabelle Desguerre21, Jean- Laurent Casanova2,22,23, Ali Dursun24, Murat Gunel25,26,27, Stacey B. Gabriel28, Pascale de Lonlay29, and Joseph G. Gleeson1,2,30 1Laboratory for Pediatric Brain Disease, The Rockefeller University, New York, NY 10065. USA. 2Howard Hughes Medical Institute. Chevy Chase, Maryland, USA. 3Dorris Neuroscience Center, Scripps Research Institute, La Jolla, CA 92093, USA. 4Institut Imagine, INSERM U1163, Hôpital Necker Enfants Malades, PARIS, France 75743. 5Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, 12311 Egypt. 6College of Medicine and Health Sciences, UAE University, United Arab Emirates. 7AP-HP, Hôpital Armand Trousseau, Laboratoire d’Anatomie Pathologique, Neuropathologie, Paris, France. -
Introduction
CLINICAL NEUROSURGERY SUPPLEMENT TO NEUROSURGERY CLINICAL NEUROSURGERY VOLUME 57 VOLUME 57 CLINICAL NEUROSURGERY i Copyright Ó2010 THE CONGRESS OF NEUROLOGICAL SURGEONS All rights reserved. This book is protected by copyright. No part of this book may be reproduced in any form or by any means, including photocopying, or utilized by any information storage or retrieval system without written permission from the copyright holder. Accurate indications, adverse reactions, and dosage schedules or drugs are provided in this book, but it is possible that they may have changed. The reader is urged to review the package information data of the manufacturer of the medications mentioned. Printed in the United States of America (ISSN: 0069-4827) ii CLINICAL NEUROSURGERY Volume 57 Proceedings OF THE CONGRESS OF NEUROLOGICAL SURGEONS New Orleans, Louisiana 2009 iii Preface The 59th Annual Meeting of the Congress of Neurological Surgeons was held in New Orleans, Louisiana, from October 24-29, 2009. Volume 57 of Clinical Neurosurgery represents the official compilation of the invited scientific manuscripts from the plenary sessions, The Presidential Address by Dr David Adelson, and biographic and bibliographic information of the Honored Guest, Dr James T. Rutka. Dr Nathan Selden, Annual Meeting Chairman, and Drs Ali Rezai and Russell Lonser, Scientific Program Chair and Vice Chair respectively, organized a superb meeting which was very well attended with more than 2800 medical attendees. The theme of this year’s Annual Meeting, A Culture of Excellence, exemplified how neurosurgeons define, pursue, and measure excellence in their everyday practice and specialty. Dr David Adelson delivered his inspirational Presidential Address entitled, ‘‘Neurosurgery: A Culture of Excellence,’’ and talked about the concept of ‘‘excellence.’’ This meeting was also a joint meeting with our neurosurgical colleagues from the Neurological Society of India (NSI) and the American Association of South Asian Neurosurgeons (AASAN). -
Muscle Diseases: the Muscular Dystrophies
ANRV295-PM02-04 ARI 13 December 2006 2:57 Muscle Diseases: The Muscular Dystrophies Elizabeth M. McNally and Peter Pytel Department of Medicine, Section of Cardiology, University of Chicago, Chicago, Illinois 60637; email: [email protected] Department of Pathology, University of Chicago, Chicago, Illinois 60637; email: [email protected] Annu. Rev. Pathol. Mech. Dis. 2007. Key Words 2:87–109 myotonia, sarcopenia, muscle regeneration, dystrophin, lamin A/C, The Annual Review of Pathology: Mechanisms of Disease is online at nucleotide repeat expansion pathmechdis.annualreviews.org Abstract by Drexel University on 01/13/13. For personal use only. This article’s doi: 10.1146/annurev.pathol.2.010506.091936 Dystrophic muscle disease can occur at any age. Early- or childhood- onset muscular dystrophies may be associated with profound loss Copyright c 2007 by Annual Reviews. All rights reserved of muscle function, affecting ambulation, posture, and cardiac and respiratory function. Late-onset muscular dystrophies or myopathies 1553-4006/07/0228-0087$20.00 Annu. Rev. Pathol. Mech. Dis. 2007.2:87-109. Downloaded from www.annualreviews.org may be mild and associated with slight weakness and an inability to increase muscle mass. The phenotype of muscular dystrophy is an endpoint that arises from a diverse set of genetic pathways. Genes associated with muscular dystrophies encode proteins of the plasma membrane and extracellular matrix, and the sarcomere and Z band, as well as nuclear membrane components. Because muscle has such distinctive structural and regenerative properties, many of the genes implicated in these disorders target pathways unique to muscle or more highly expressed in muscle. -
Table E-2. Distinguishing Features of Muscular Dystrophies Designation
Table e-2. Distinguishing features of muscular dystrophies Designation Protein Chromosome Inheritance Common Distinguishing Distinguishing EMG Complications patterns of clinical features and muscle biopsy weakness features X-linked muscular dystrophies EDMD-X1 Emerin Xq28 XR HP Contractures Cardiac invariably present conduction early in the disease abnormalities course EDMD-X2 FHL1 Xq27.2 XR LG, HP or Foot drop; extremity Myofibrillar myopathy Severe SP, DM contractures and or reducing bodies respiratory neck contractures failure in many common patients Becker Dystrophin Xp21 XR LG Calf hypertrophy Mosaic appearance of Dilated muscular dystrophin on cardiomyopathy dystrophy immunohistochemistry in 4% to 70% in affected woman depending on disease duration Limb-girdle muscular dystrophies (LGMDs) LGMD1A Myotilin 5q22.3-31.3 AD LG, DM Onset > 40 years, Myofibrillar myopathy, Cardiomyopathy, foot drop, myotonic or respiratory asymmetric muscle pseudomyotonic muscle weakness weakness and discharges atrophy LGMD1B Lamin A/C 1q11-21 AD LG, HP, DM Early Cardiomyopathy humeroperoneal and conduction weakness, limb system disease contractures LGMD1C Caveolin-3 3p25 AD LG Rippling muscles, percussion-induced rapid contractions, prominent muscle cramps and calf hypertrophy LGMD1D DNAJB6 6q23 AD LG, DM Onset > 40 years, Myofibrillar myopathy, foot drop rimmed vacuoles, myotonic or pseudomyotonic discharges LGMD1E Desmin 2q35 AD LG, HP, DM Onset < 40 years, Myofibrillar myopathy, Cardiomyopathy, foot drop myotonic or respiratory pseudomyotonic muscle -
An Attempt at Dissolution of the Notion of Self a Thesis
AN ATTEMPT AT DISSOLUTION OF THE NOTION OF SELF A THESIS SUBMITTED TO THE GRADUATE SCHOOL OF SOCIAL SCIENCES OF MIDDLE EAST TECHNICAL UNIVERSITY BY DARIA SUGORAKOVA IN PARTIAL FULFILLMENT OF THE REQUIREMENTS FOR THE DEGREE OF DOCTOR OF PHILOSOPHY IN THE DEPARTMENT OF PHILOSOPHY FEBRUARY 2014 Approval of the Graduate School of Social Sciences Prof. Dr. Meliha Altunışık Director I certify that this thesis satisfies all the requirements as a thesis for the degree of Doctor of Philosophy. Prof. Dr. Ahmet İnam Head of Department This is to certify that we have read this thesis and that in our opinion it is fully adequate, in scope and quality, as a thesis for the degree of Doctor of Philosophy. Assoc. Prof. Dr. Erdinç Sayan Supervisor Examining Committee Members Prof. Dr. David Grünberg (METU, Phil) Assoc. Prof. Dr. Erdinç Sayan (METU, Phil) Prof. Dr. Ayhan Sol (METU, Phil) Assoc. Prof. Dr. İskender Taşdelen (Anadolu U., Phil) Assist. Prof. Dr. Hilmi Demir (Bilkent U., Phil) I hereby declare that all information in this document has been obtained and presented in accordance with academic rules and ethical conduct. I also declare that, as required by these rules and conduct, I have fully cited and referenced all material and results that are not original to this work. Name, Last name: Signature: iii ABSTRACT AN ATTEMPT AT DISSOLUTION OF THE NOTION OF SELF Daria Sugorakova Ph.D., Department of Philosophy Supervisor: Assoc. Prof. Dr. Erdinç Sayan February 2014, 139 pages The purpose of this thesis is to provide a plausible approach to the problems of self and personal continuity that arise in various thought experiments and reported extraordinary real-life cases.