Overview

"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."

Full Product Details

Author:   Dalit Ben-Yosef ,  Yoav Mayshar
Publisher:   Humana Press Inc.
Imprint:   Humana Press Inc.
Edition:   1st ed. 2019
Volume:   1942
Weight:   0.624kg
ISBN:  

9781493990795

ISBN 10:   1493990799
Pages:   192
Publication Date:   22 March 2019
Audience:   Professional and scholarly ,  Professional & Vocational
Format:   Hardback
Publisher's Status:   Active
Availability:   Not yet available  
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Table of Contents

Preface...Table of Contents...Contributing Authors... Part I FXS: Full MutationAn Introduction to FXS1. Fragile-X Syndrome: IntroductionAdi Reches Methods to Study FXS2. Clinical Genetic Testing for Fragile-X Syndrome by Polymerase Chain Reaction Amplification and Southern Blot AnalysesXiaoqiang Cal, Mohammad Arif, Haolei Wan, Ruth Kornreich, and Lisa Edelmann 3. Monitoring for Epigenetic Modifications at the FMR1 LocusSilvina Epsztejn-Litman and Rachel Eiges 4. Assays for Determining Repeat Number, Methylation Status and AGG Interruptions in the Fragile X-Related DisordersBruce E. Hayward and Karen Usdin 5. One-Step Generation of Seamless Luciferase Gene Knock-In Using CRISPR/Cas9 Genome Editing in Human Pluripotent Stem CellsMeng Li, Jack Hunt, Anita Bhattacharyya, and Xinyu Zhao 6. Modeling FXS with Mouse Neural ProgenitorsUlla-Kaisa Peteri and Maija L. Castren 7. Using Human Neural Progenitor Cell Models to Conduct Large-Scale Drug Screens for Neurological and Psychiatric DiseasesJack Hunt, Meng Li, Xinyu Zhao, and Anita Bhattacharyya 8. Modeling FXS: Human Pluripotent Stem Cells and In Vitro Neural DifferentiationLiron Kuznitsov-Yanovsky, Yoav Mayshar, and Dalit Ben-Yosef 9. Induced Neurons for the Study of Neurodegenerative and Neurodevelopmental DisordersEvelyn J. Sauter, Lisa K. Kutsche, Simon D. Klapper, and Volker Busskamp 10. Imaging of Somatic Ca2+ Transients in Differentiated Human NeuronsIrena Vertkin and Dalit Ben-Yosef 11. Patch-Clamp Recordings from Human Embryonic Stem Cells-Derived Fragile X NeuronsMichael Telias and Menahem Segal 12. Application of Drosophila Model towards Understanding the Molecular Basis of Fragile-X SyndromeHa Eun Kong, Junghwa Lim, and Peng Jin Human vs Mouse in Fragile-X Syndrome Research 13. Comparing Mouse and Human-Based Models for Fragile-X Syndrome Pre-Clinical ResearchMichael Telias Part II FX PremutationFemales FX Permutation: Primary Ovarian Insufficiency14. Pathophysiology Mechanisms in Fragile-X Primary Ovarian InsufficiencyShai E. Elizur, Moran Friedman, Olga Dratviman-Storobinsky, and Yoram Cohen FX Permutation FXTAS15. Fragile-X Associated Tremor/Ataxia Syndrome (FXTAS)Marwa Zafarullah and Flora Tassone

Reviews

The main audience is basic scientists involved in laboratory medicine, but there is enough clinical information to attract the attention of clinicians. Clinical geneticists may find it interesting as the questions asked by current technology provide answers to the phenotypic clinical variances observed. Graduate students involved in fragile X syndrome would find this book essential. ... The illustrations are well selected and appropriate. (Luis F Escobar, Doody's Book Reviews, June 07, 2019)

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