Fragile-X syndrome: methods and protocols
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-...
Gespeichert in:
| Weitere Verfasser: | , |
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| Format: | Elektronisch E-Book |
| Sprache: | English |
| Veröffentlicht: |
New York, NY
Springer New York
2019
|
| Ausgabe: | 1st ed. 2019 |
| Schriftenreihe: | Methods in Molecular Biology
1942 |
| Schlagworte: | |
| Online-Zugang: | UBR01 TUM01 Volltext |
| Zusammenfassung: | 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 |
| Beschreibung: | 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) |
| Beschreibung: | 1 Online-Ressource (X, 192 Seiten) Illustrationen |
| ISBN: | 9781493990801 |
| DOI: | 10.1007/978-1-4939-9080-1 |
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| 520 | |a 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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| spelling | Fragile-X syndrome methods and protocols edited by Dalit Ben-Yosef, Yoav Mayshar 1st ed. 2019 New York, NY Springer New York 2019 1 Online-Ressource (X, 192 Seiten) Illustrationen txt rdacontent c rdamedia cr rdacarrier Methods in Molecular Biology 1942 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 Molecular biology Neurology Human genetics Ben-Yosef, Dalit (DE-588)1183929951 edt Mayshar, Yoav ca. 20./21. Jh. (DE-588)1247839168 edt Erscheint auch als Druck-Ausgabe 978-1-4939-9081-8 https://doi.org/10.1007/978-1-4939-9080-1 Verlag URL des Erstveröffentlichers Volltext |
| spellingShingle | Fragile-X syndrome methods and protocols Molecular biology Neurology Human genetics |
| title | Fragile-X syndrome methods and protocols |
| title_auth | Fragile-X syndrome methods and protocols |
| title_exact_search | Fragile-X syndrome methods and protocols |
| title_exact_search_txtP | Fragile-X syndrome methods and protocols |
| title_full | Fragile-X syndrome methods and protocols edited by Dalit Ben-Yosef, Yoav Mayshar |
| title_fullStr | Fragile-X syndrome methods and protocols edited by Dalit Ben-Yosef, Yoav Mayshar |
| title_full_unstemmed | Fragile-X syndrome methods and protocols edited by Dalit Ben-Yosef, Yoav Mayshar |
| title_short | Fragile-X syndrome |
| title_sort | fragile x syndrome methods and protocols |
| title_sub | methods and protocols |
| topic | Molecular biology Neurology Human genetics |
| topic_facet | Molecular biology Neurology Human genetics |
| url | https://doi.org/10.1007/978-1-4939-9080-1 |
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