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Fragile X Syndrome

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  • 498 Seiten
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Fragile X Syndrome: From Genetics to Targeted Treatment provides a structured overview of the molecular and clinical background of... Weiterlesen
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Beschreibung

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


Klappentext

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



Inhalt

Clinics, diagnosis, epidemiology, molecular mechanisms and models 1. The Clinical Phenotype of the Fragile X Syndrome and Related Disorders 2. Fragile X Syndrome Genetics 3. Molecular Diagnostics and Genetic Counseling in Fragile X syndrome and FMR1 associated disorders 4. Epidemiology of Fragile X Syndrome 5. Mechanisms of repeat instability in Fragile X Syndrome 6. Modeling Fragile X Syndrome Using Human Pluripotent Stem Cells 7. Animal models - drosophila, mouse, rat and zebrafish

Pathways Involved 8. RNA and protein targets of FMRP 9. The mGluR Theory of Fragile X from Mice to Men 10. The GABAergic System contributions to the Fragile X Syndrome Phenotype 11. Intracellular Signaling Networks in Fragile X Syndrome: Approaches to Drug Discovery and Therapeutics 12. The Endocannabinoid System in Fragile X Syndrome 13. Glycogen synthase kinase-3: Abnormalities and therapeutic potential in Fragile X syndrome 14. Defects in Rho GTPase signaling to the spine actin cytoskeleton in FMR1 knockout mice 15. Matrix Metalloproteinases in Fragile X Syndrome 16. Ion channel dysfunction and FXS 17. Reactivation of FMR1 gene

Clinical trials 18. Drug discovery for targeted pharmacotherapy of Fragile X Syndrome 19. Overview of targeted double blind, placebo controlled clinical trials in Fragile X Syndrome 20. Reflections on Clinical trials in Fragile X syndrome 21. Toward better outcome measures in clinical trials 22. Fragile X Research from a Parental Perspective

Produktinformationen

Titel: Fragile X Syndrome
Untertitel: From Genetics to Targeted Treatment
Editor:
EAN: 9780128045077
Digitaler Kopierschutz: Adobe-DRM
Format: E-Book (epub)
Hersteller: Elsevier Science & Techn.
Genre: Biologie
Anzahl Seiten: 498
Veröffentlichung: 26.05.2017
Dateigrösse: 12.9 MB