Fragile-X Syndrome : Methods and Protocols /
edited by Dalit Ben-Yosef, Yoav Mayshar.
Bok Engelsk 2019 · Electronic books.
| Medvirkende | |
|---|---|
| Omfang | 1 online resource (X, 192 p. 25 illus., 15 illus. in color.)
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| Utgave | 1st ed. 2019.
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| Opplysninger | Fragile-X Syndrome: Introduction -- Clinical Genetic Testing for Fragile-X Syndrome by Polymerase Chain Reaction Amplification and Southern Blot Analyses -- Monitoring for Epigenetic Modifications at the FMR1 Locus -- Assays for Determining Repeat Number, Methylation Status and AGG Interruptions in the Fragile X-Related Disorders -- One-Step Generation of Seamless Luciferase Gene Knock-In Using CRISPR/Cas9 Genome Editing in Human Pluripotent Stem Cells -- Modeling FXS with Mouse Neural Progenitors -- Using Human Neural Progenitor Cell Models to Conduct Large-Scale Drug Screens for Neurological and Psychiatric Diseases -- Modeling FXS: Human Pluripotent Stem Cells and In Vitro Neural Differentiation -- Induced Neurons for the Study of Neurodegenerative and Neurodevelopmental Disorders -- Imaging of Somatic Ca2+ Transients in Differentiated Human Neurons -- Patch-Clamp Recordings from Human Embryonic Stem Cells-Derived Fragile X Neurons -- Application of Drosophila Model towards Understanding the Molecular Basis of Fragile-X Syndrome -- Comparing Mouse and Human-Based Models for Fragile-X Syndrome Pre-Clinical Research -- Pathophysiology Mechanisms in Fragile-X Primary Ovarian Insufficiency -- Fragile-X Associated Tremor/Ataxia Syndrome (FXTAS).. - 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.
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| Emner | |
| Sjanger | |
| Dewey | |
| ISBN | 1-4939-9080-2
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