Download or read book Modeling Fragile X Syndrome written by Robert B. Denman and published by Springer Science & Business Media. This book was released on 2014-07-08 with total page 384 pages. Available in PDF, EPUB and Kindle. Book excerpt: Introduction.-Probing Astrocyte Function in Fragile X Syndrome.- Neural Stem Cells.- Fragile X Mental Retardation Protein (FMRP) and the Spinal Sensory System.– The Role of the Postsynaptic Density in the Pathology of the Fragile X Syndrome.- Behavior in a Drosophila model of Fragile X.- Molecular and Genetic Analysis of the Drosophila Model of Fragile X Syndrome.- Fragile X Mental Retardation Protein and Stem Cells.- Manipulating the Fragile X Mental Retardation Proteins in the Frog.- Exploring the Zebra finch Taeniopygia gutta as a Novel Animal Model for the Speech-language Deficit of Fragile X Syndrome.- Neuroendocrine Alterations in the Fragile X Mouse.- Taking STEPs forward to understanding Fragile X Syndrome.- Fmr-1 as an Offspring Genetic and a Maternal Environmental Factor in Neurodevelopmental Disease.- Mouse Models of the Fragile X Premutation and the Fragile X Associated Tremor/Ataxia Syndrome.- Clinical Aspects of the Fragile X Syndrome.- Fragile X Syndrome: A Psychiatric Perspective.- Fragile X Syndrome and Targeted Treatment Trials.- The Fragile X-associate Tremor Ataxia Syndrome.- Vignettes: Models in Absentia.
Download or read book Fragile X Syndrome written by Dalit Ben-Yosef and published by Humana Press. This book was released on 2019-03-08 with total page 192 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume discusses the latest technologies used to study all aspects of Fragile-X Syndrome (FXS). The chapters in this book cover topics such as monitoring for epigenetic modifications at the FMR1 locus; modeling FXS with human pluripotent stem cells, mouse neural progenitors; mouse versus human-based models for FXS pre-clinical research; and Fragile-X associated with Tremor/Ataxia Syndrome (FXTAS). Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Cutting-edge and thorough, Fragile-X Syndrome: Methods and Protocols is a valuable tool to help scientists working towards one day developing a therapeutic solution to improve the symptoms of FXS. Chapter "Induced Neurons for the Study of Neurodegenerative and Neurodevelopmental Disorders" is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com.
Download or read book The Causes of Epilepsy written by Simon Shorvon and published by Cambridge University Press. This book was released on 2019-05-02 with total page 1013 pages. Available in PDF, EPUB and Kindle. Book excerpt: Expanded and revised, this unique book provides concise descriptions of the many causes of epilepsy, for use in clinical practice.
Download or read book Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability written by Carlo Sala and published by Academic Press. This book was released on 2016-04-30 with total page 396 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability provides the latest information on Autism spectrum disorders (ASDs), the lifelong neurodevelopmental disorders that present in early childhood and affect how individuals communicate and relate to others and their surroundings. In addition, three quarters of ASD patients also manifest severe intellectual disability. Though certain genes have been implicated, ASDs remain largely a mystery, and research looking into causes and cellular deficits are crucial for better understanding of neurodevelopmental disorders. Despite the prevalence and insidious nature of this disorder, this book remains to be an extensive resource of information and background on the state of current research in the field. The book serves as a reference for this purpose, and discusses the crucial role synaptic activity plays in proper brain function. In addition, the volume discusses the neurodevelopmental synaptopathies and serves as a resource for scientists and clinicians in all biomedical science specialties. This research has been crucial for recent studies that have provided a rationale for the development of pharmacological agents able to counteract functional synaptic anomalies and potentially ameliorate some ASD symptoms. Introduces the genetic and non-genetic causes of autism and associated intellectual disabilities Describes the genes implicated in autistic spectrum disorders and their function Considers major individual genetic causes of autism, Rett syndrome, Fragile X syndrome, and other autism spectrum disorders, as well as their classification as synaptopathies Presents a thorough discussion of the clinical aspects of multiple neurodevelopmental disorders and the experimental models that exist to study their pathophysiology in vitro and in vivo, including animal models and patient-derived stem cell culture
Download or read book Fragile X Syndrome written by Rob Willemsen and published by Academic Press. This book was released on 2017-05-26 with total page 498 pages. Available in PDF, EPUB and Kindle. Book excerpt: Fragile X Syndrome: From Genetics to Targeted Treatment provides a structured overview of the molecular and clinical background of the disorder as well as treatment options. The book discusses the detailed molecular information on each of the pathways involved with sufficient details for all whose research touches this pathway. It provides a state-of-the-art update on all clinical aspects associated with this syndrome, including phenotype, diagnostics and epidemiology. It also includes an overview of the lessons learned from the preclinical research and pioneering trials on the fragile X syndrome for the investigators involved in clinical trials of neurodevelopmental disorders. This book is written for academic researchers, pharmaceutical investigators, and clinicians in the field who work on the disorder, and for researchers involved in clinical trials of the fragile X syndrome or related disorders. Provides a comprehensive overview of the molecular genetics, clinical trials, and treatment of Fragile X Syndrome Written for academic researchers, pharmaceutical investigators, and clinicians in the field Edited by international leaders in the field who have contributed greatly to the study of Fragile X Syndrome Directs the reader through complex issues surrounding FXS and draws the literature together for researchers and clinicians
Download or read book Fragile X Syndrome written by Randi Jenssen Hagerman and published by JHU Press. This book was released on 2002-05-17 with total page 562 pages. Available in PDF, EPUB and Kindle. Book excerpt: Fragile X syndrome is the most common inherited form of mental retardation. Revised for its third edition, this book discusses the clinical approach to diagnosing the disorder, supported by current research, and presents information on treatment.
Download or read book Cassidy and Allanson s Management of Genetic Syndromes written by John C. Carey and published by John Wiley & Sons. This book was released on 2021-01-27 with total page 1104 pages. Available in PDF, EPUB and Kindle. Book excerpt: MANAGEMENT OF GENETIC SYNDROMES THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson’s Management of Genetic Syndromes, Fourth Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on the management of genetic syndromes in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth edition includes current information on the identification of genetic syndromes (including newly developed diagnostic criteria), the genetic basis (including diagnostic testing), and the routine care and management for more than 60 genetic disorders. Written by experts, each chapter includes sections on: Incidence Diagnostic criteria Etiology, pathogenesis and genetics Diagnostic testing Differential diagnosis Manifestations and Management (by system) The book focuses on genetic syndromes, primarily those involving developmental disabilities and congenital defects. The chapter sections dealing with Manifestations and Management represents the centerpiece of each entry and is unmatched by other genetic syndrome references. Management of Genetic Syndromes is perfect for medical geneticists, genetic counselors, primary care physicians and all healthcare professionals seeking to stay current on the routine care and management of individuals with genetic disorders.
Download or read book Epigenetics in Psychiatry written by Jacob Peedicayil and published by Academic Press. This book was released on 2021-08-21 with total page 848 pages. Available in PDF, EPUB and Kindle. Book excerpt: Epigenetics in Psychiatry, Second Edition covers all major areas of psychiatry in which extensive epigenetic research has been performed, fully encompassing a diverse and maturing field, including drug addiction, bipolar disorder, epidemiology, cognitive disorders, and the uses of putative epigenetic-based psychotropic drugs. Uniquely, each chapter correlates epigenetics with relevant advances across genomics, transcriptomics, and proteomics. The book acts as a catalyst for further research in this growing area of psychiatry. This new edition has been fully revised to address recent advances in epigenetic understanding of psychiatric disorders, evoking data consortia (e.g., CommonMind, ATAC-seq), single cell analysis, and epigenome-wide association studies to empower new research. The book also examines epigenetic effects of the microbiome on psychiatric disorders, and the use of neuroimaging in studying the role of epigenetic mechanisms of gene expression. Ongoing advances in epigenetic therapy are explored in-depth. Fully revised to discuss new areas of research across neuronal stem cells, cognitive disorders, and transgenerational epigenetics in psychiatric disease Relates broad advances in psychiatric epigenetics to a modern understanding of the genome, transcriptome, and proteins Catalyzes knowledge discovery in both basic epigenetic biology and epigenetic targets for drug discovery Provides guidance in research methods and protocols, as well how to employ data from consortia, single cell analysis, and epigenome-wide association studies (EWAS) Features chapter contributions from international leaders in the field
Download or read book Fragile X Syndrome written by Randi Jenssen Hagerman and published by . This book was released on 1996 with total page 481 pages. Available in PDF, EPUB and Kindle. Book excerpt: This new edition of Fragile X Syndrome includes updated information on the latest research findings -- especially in molecular biology -- as well as new photographs highlighting clinical features and thorough coverage of treatment and intervention, diagnosis, and research. Praise for the first edition: "Answers nearly all the questions that parents or clinicians might raise about fragile X syndrome....Can be recommended confidently as a thoroughly up-to-date, reliable, and informative account of the condition." -- Lancet "The clinical and cytogenetic material in this book is excellent and provides a strong background for physicians and students... Fragile X Syndrome still presents the best comprehensive treatment of this complex disorder. Physicians, students, and other interested professionals can either read this book from cover to cover or select the chapters that interest or apply to them." -- New England Journal of Medicine
Download or read book Towards Mechanism based Treatments for Fragile X Syndrome written by Daman Kumari and published by MDPI. This book was released on 2019-09-18 with total page 250 pages. Available in PDF, EPUB and Kindle. Book excerpt: It has been more than 25 years since the identification of the FMR1 gene and the demonstration of the causative role of CGG-repeat expansion in the disease pathology of fragile X syndrome (FXS), but the underlying mechanisms involved in the expansion mutation and the resulting gene silencing still remain elusive. Our understanding of the pathways impacted by the loss of FMRP function has grown tremendously, and has opened new avenues for targeted treatments for FXS. However, the failure of recent clinical trials that were based on successful preclinical studies using the Fmr1 knockout mouse model has forced the scientific community to revisit clinical trial design and identify objective outcome measures. There has also been a renewed interest in restoring FMR1 gene expression as a possible treatment approach for FXS. This special issue of Brain Sciences highlights the progress that has been made towards understanding the disease mechanisms and how this has informed the development of treatment strategies that are being explored for FXS.
Download or read book Educating Children with Fragile X Syndrome written by Denise Dew-Hughes and published by Routledge. This book was released on 2003-12-16 with total page 209 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides invaluable information, support and guidance on educating a child with Fragile X, background on the origins of this syndrome, and what the implications are for such a child's teaching and learning.
Download or read book Composition and Function of the Extracellular Matrix in the Human Body written by Francesco Travascio and published by BoD – Books on Demand. This book was released on 2016-06-15 with total page 376 pages. Available in PDF, EPUB and Kindle. Book excerpt: The extracellular matrix (ECM) is an ensemble of non-cellular components present within all tissues and organs of the human body. The ECM provides structural support for scaffolding cellular constituents and biochemical and biomechanical support for those events leading to tissue morphogenesis, differentiation and homeostasis. Essential components of all ECMs are water, proteins and polysaccharides. However, their composition, architecture and bioactivity greatly vary from tissue to tissue in relation to the specific role the ECM is required to assume. This book overviews the role of the ECM in different tissues and organs of the human body.
Download or read book Genetic Models and Molecular Pathways Underlying Autism Spectrum Disorders written by and published by Academic Press. This book was released on 2018-11-14 with total page 232 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetic Models and Molecular Pathways Underlying Autism Spectrum Disorders, Volume 241 provides the most recent information on the animal model systems that are available to study different forms of autism spectrum disorders. In addition to genetically engineered animals that uniquely model genetic forms of ASD, this volume also provides detailed chapters on a variety of specific topics, including An overview of genetic models of ASDs, Phenotypic modeling of ASD symptoms, Molecular mechanisms of NF1 model of ASD symptoms, Ube3a gene dosage disorders: molecular and circuit mechanisms of ASD, Circuit dysfunctions in ASD models, ERK signaling in genetic models of ASD, and more. Presents a timely, comprehensive assessment of the field Includes helpful summaries on current knowledge, gaps and future directions in autism research
Download or read book Modeling Fragile X Syndrome written by and published by . This book was released on 2003 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Advances in Cognitive Neurodynamics VI written by José M. Delgado-García and published by Springer. This book was released on 2018-12-23 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This proceedings contains articles submitted to the sixth International Conference on Cognitive Neurodynamics (ICCN2017). The Meeting included plenary lectures, specialized symposia, and posters presentations. The main topics of the meeting addressed the general substrates underlying neural functions and the neural dynamics in sensory, motor, and cognitive systems. Other important neuroscience fields covered in the meeting were learning and memory processes and the functionally-related changes in synaptic strength, neural oscillations, synchronizations and coherence activities between different neural circuits, and the imaging of cognitive networks. Finally, specific articles covered several fields related to neural computation and neuroengineering, the modelling higher-order functions and dysfunctions and the experimental design of brain-to-computer and brain-to-brain interactions. All articles were peer-reviewed. The ICCN is a series conference that takes place every two years since 2007.
Download or read book Modeling Autism Spectrum Disorder written by Steve Colvin and published by . This book was released on 2023 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Autism Spectrum Disorder (ASD) is a collection of developmental disabilities characterized by outward features, such as impaired socialization skills and repetitive behaviors, and often associated with broad health complications that together carry lifelong impact. Unfortunately, ASD symptoms occur at the nexus of higher-order cognitive functions, which arise through inordinately complex cellular and molecular processes. This pleiotropic nature means that, in many cases, ASD remains poorly understood at the mechanistic level. Tremendous efforts are underway to define the etiology of ASD, but there must be equally rigorous attention to the systems employed to model these genetics in order to ensure accurate insights into their pathophysiology and treatment options. We sought to extend the current state of animal models for two of the most prevalent monogenic causes of ASD and investigate their therapeutic potential. Fragile X syndrome is a trinucleotide repeat disorder where repeat expansion in the FMR1 5' untranslated region triggers its methylation and represses its transcription. Yet we were unable to reproduce this methylation when we aggressively expanded the repeat length of mouse Fmr1, suggesting fundamental differences in species biology that may limit the utility of mice for studying treatment in Fragile X. We also initiated a project to target Rett syndrome -- a highly debilitating condition typically caused by de novo loss-of-function mutations in MECP2 -- with emerging RNA-based gene therapy approaches. We theorized that the A-to-I converting REPAIR system was capable of recoding all Rett nonsense mutations into tryptophan, and created a proof-of-concept tryptophan model that lacked any discernible Rett phenotypes. We also validated REPAIR editing in vitro as the first step towards a treatment to reverse Rett syndrome in patients. Together, these models contribute valuable insights into the relationship between genes and mechanisms, and provide a path forward for potential therapeutic development.
Download or read book The Autisms written by Craig M. Powell and published by Oxford University Press, USA. This book was released on 2013 with total page 421 pages. Available in PDF, EPUB and Kindle. Book excerpt: The science of autism has seen tremendous breakthroughs in the past few decades. A multitude of relatively rare mutations have been identified to explain around 15 % of autism cases with many of these genetic causes systematically examined in animal models. This marriage of human genetics and basic neurobiology has led to major advances in our understanding of how these genetic mutations alter brain function and help to better understand the human disease. These scientific approaches are leading to the identification of potential therapeutic targets for autism that can be tested in the very same genetic models and hopefully translated into novel, rational therapies. The Autisms: Molecules to Model Systems provides a roadmap to many of these genetic causes of autism and clarifies what is known at the molecular, cellular, and circuit levels. Focusing on tractable genetic findings in human autism and painstakingly dissecting the underlying neurobiology, the book explains, is the key to understanding the pathophysiology of autism and ultimately to identifying novel treatments.
