Modeling Fragile X Syndrome

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Modeling Fragile X Syndrome

Author : Robert B. Denman
Publisher : Springer Science & Business Media
ISBN 13 : 3642216498
Total Pages : 384 pages
Book Rating : 4.6/5 (422 download)

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Book Synopsis Modeling Fragile X Syndrome by : Robert B. Denman

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.

Fragile-X Syndrome

Author : Dalit Ben-Yosef
Publisher : Humana Press
ISBN 13 : 9781493990795
Total Pages : 192 pages
Book Rating : 4.9/5 (97 download)

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Book Synopsis Fragile-X Syndrome by : Dalit Ben-Yosef

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.

Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability

Author : Carlo Sala
Publisher : Academic Press
ISBN 13 : 0128005335
Total Pages : 396 pages
Book Rating : 4.1/5 (28 download)

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Book Synopsis Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability by : Carlo Sala

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

The Causes of Epilepsy

Author : Simon Shorvon
Publisher : Cambridge University Press
ISBN 13 : 1108420753
Total Pages : 1013 pages
Book Rating : 4.1/5 (84 download)

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Book Synopsis The Causes of Epilepsy by : Simon Shorvon

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.

Fragile X Syndrome

Author : Randi Jenssen Hagerman
Publisher : JHU Press
ISBN 13 : 9780801868436
Total Pages : 562 pages
Book Rating : 4.8/5 (684 download)

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Book Synopsis Fragile X Syndrome by : Randi Jenssen Hagerman

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.

Fragile X Syndrome

Author : Rob Willemsen
Publisher : Academic Press
ISBN 13 : 0128045078
Total Pages : 500 pages
Book Rating : 4.1/5 (28 download)

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Book Synopsis Fragile X Syndrome by : Rob Willemsen

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 500 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. “This fascinating book, edited by Rob Willemsen and Frank Kooy, summarizes the current knowledge of the molecular aspects of fragile X syndrome (FXS), andthe potential for therapies resulting from this knowledge...Particularly interesting is a review “fragile X research from a parental perspective,” which summarizes the results of an international survey of the attitudes of families with FXS relatives towards research...This book is also an essential reference book for genetic counselors...The book provides counselors with the necessary biological background for proper explanations to the relatives of FXS patients. Many parents acquire a substantial knowledge of the conditions afflicting their children. The book will be helpful for both families and counselors to manage the expectations of families participating in clinical trials...In conclusion, this book is essential for everyone who is involved in the diagnosis and treatment of FXS patients.” - European Journal of Human Genetics (September 2018) 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

Fragile X Syndrome: New Insights for the Healthcare Professional: 2013 Edition

Author :
Publisher : ScholarlyEditions
ISBN 13 : 1481652567
Total Pages : 50 pages
Book Rating : 4.4/5 (816 download)

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Book Synopsis Fragile X Syndrome: New Insights for the Healthcare Professional: 2013 Edition by :

Download or read book Fragile X Syndrome: New Insights for the Healthcare Professional: 2013 Edition written by and published by ScholarlyEditions. This book was released on 2013-07-22 with total page 50 pages. Available in PDF, EPUB and Kindle. Book excerpt: Fragile X Syndrome: New Insights for the Healthcare Professional: 2013 Edition is a ScholarlyBrief™ that delivers timely, authoritative, comprehensive, and specialized information about Additional Research in a concise format. The editors have built Fragile X Syndrome: New Insights for the Healthcare Professional: 2013 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Additional Research in this book to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Fragile X Syndrome: New Insights for the Healthcare Professional: 2013 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.

The Fragile X Syndrome

Author : Kay E. Davies
Publisher : Oxford University Press, USA
ISBN 13 :
Total Pages : 150 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis The Fragile X Syndrome by : Kay E. Davies

Download or read book The Fragile X Syndrome written by Kay E. Davies and published by Oxford University Press, USA. This book was released on 1989 with total page 150 pages. Available in PDF, EPUB and Kindle. Book excerpt: This new book is an up-to-date review of the clinical, epidemiological, and cytogenetic aspects of the fragile X (Martin-Bell) syndrome--the most common genetic cause of mental retardation after Down syndrome. The book includes the latest research findings concerning diagnosis on the basis of the appearance of a fragile site in cultured lymphocytes. It assumes little prior knowledge of the subject, and provides a clearly written, easy-to-understand discussion previously unavailable in a single reference source. The book will be of special interest to molecular biologists, cytogeneticists, medical geneticists, and clinicians and other professionals working with the mentally handicapped.

Epigenetics in Psychiatry

Author : Jacob Peedicayil
Publisher : Academic Press
ISBN 13 : 0128235780
Total Pages : 848 pages
Book Rating : 4.1/5 (282 download)

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Book Synopsis Epigenetics in Psychiatry by : Jacob Peedicayil

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

Towards Mechanism-based Treatments for Fragile X Syndrome

Author : Daman Kumari
Publisher : MDPI
ISBN 13 : 3039215051
Total Pages : 250 pages
Book Rating : 4.0/5 (392 download)

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Book Synopsis Towards Mechanism-based Treatments for Fragile X Syndrome by : Daman Kumari

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.

Modeling Fragile X Syndrome

Author :
Publisher :
ISBN 13 :
Total Pages : pages
Book Rating : 4.:/5 (768 download)

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Book Synopsis Modeling Fragile X Syndrome by :

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:

Cassidy and Allanson's Management of Genetic Syndromes

Author : John C. Carey
Publisher : John Wiley & Sons
ISBN 13 : 1119432677
Total Pages : 1104 pages
Book Rating : 4.1/5 (194 download)

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Book Synopsis Cassidy and Allanson's Management of Genetic Syndromes by : John C. Carey

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.

Understanding Fragile X Syndrome

Author : Isabel Fernández Carvajal
Publisher : Jessica Kingsley Publishers
ISBN 13 : 0857004379
Total Pages : 114 pages
Book Rating : 4.8/5 (57 download)

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Book Synopsis Understanding Fragile X Syndrome by : Isabel Fernández Carvajal

Download or read book Understanding Fragile X Syndrome written by Isabel Fernández Carvajal and published by Jessica Kingsley Publishers. This book was released on 2011-08-15 with total page 114 pages. Available in PDF, EPUB and Kindle. Book excerpt: Fragile X syndrome is one of the main causes of child developmental delay and autism spectrum disorders. A premutated form of the same gene is also the basis for neurological disabilities in adults. This book breaks down the complex science of this genetic disorder and provides the facts and advice that every bewildered parent or professional needs to support individuals with Fragile X syndrome. This handbook offers a straightforward introduction that clearly explains the condition on both a scientific and practical level. With sections on diagnosis, symptoms and treatment, as well as discussions of various emotional and behavioral considerations, the book covers all aspects Fragile X syndrome, its implications, and the possibilities open to families affected by it. The book demonstrates how with the right therapies progress can be made and emphasizes how music can be used effectively to promote communication, interaction, fine motor skills and responsiveness in children with the condition. This is an essential reference tool for families of individuals with Fragile X syndrome, as well as therapists and healthcare professionals who are unfamiliar with the condition and looking to find out more.

The Source for Fragile X Syndrome

Author : Gail Harris-Schmidt
Publisher :
ISBN 13 :
Total Pages : 170 pages
Book Rating : 4.E/5 ( download)

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Book Synopsis The Source for Fragile X Syndrome by : Gail Harris-Schmidt

Download or read book The Source for Fragile X Syndrome written by Gail Harris-Schmidt and published by . This book was released on 2004 with total page 170 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Modeling Autism Spectrum Disorder

Author : Steve Colvin
Publisher :
ISBN 13 :
Total Pages : 0 pages
Book Rating : 4.:/5 (139 download)

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Book Synopsis Modeling Autism Spectrum Disorder by : Steve Colvin

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.

New Research on Fragile X Syndrome

Author :
Publisher : Nova Publishers
ISBN 13 : 9781600212819
Total Pages : 158 pages
Book Rating : 4.2/5 (128 download)

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Book Synopsis New Research on Fragile X Syndrome by :

Download or read book New Research on Fragile X Syndrome written by and published by Nova Publishers. This book was released on 2007 with total page 158 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Fragile X Syndrome

Author : Randi Jenssen Hagerman
Publisher :
ISBN 13 : 9780801853883
Total Pages : 481 pages
Book Rating : 4.8/5 (538 download)

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Book Synopsis Fragile X Syndrome by : Randi Jenssen Hagerman

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