书目详细信息
： Fragile x syndrome :
书目信息 机读格式(MARC)
| ISBN： | 9780128044612 |
|---|---|
| 编目源： | DLC DLC DLC CQMU-1st |
| 题名： | Fragile x syndrome : from genetics to targeted treatment / edited by Rob Willemsen, Frank Kooy. |
| 出版发行项： | London, United Kingdom ; San Diego, CA, United States : Elsevier/Academic Press, an imprint of Elsevier c2017 |
| 载体形态： | xiv, 484 pages ; color illustrations ; 25 cm |
| 书目附注： | Includes bibliographical references and index. |
| 格式化内容附注： | Part I. Clinics, diagnosis, epidemiology, molecular mechanisms, and models -- The clinical phenotype of the Fragile X syndrome and related disorders -- Fragile X syndrome genetics -- Molecular diagnostics and genetic counseling in Fragile X syndrome and FMR1-associated disorders -- Epidemiology of Fragile X syndrome -- Mechanisms of repeat instability in Fragile X syndrome -- Modeling Fragile X syndrome using human pluripotent stem cells -- Animal models of Fragile X syndrome -- Part II. Pathways involved -- RNA and protein targets of FMRP -- The mGluR theory of Fragile X: from mice to men -- The GABAergic system contributions to the Fragile X syndrome phenotype -- Intracellular signaling networks in Fragile X syndrome: approaches to drug discovery and therapeutics -- The endocannabinoid system in Fragile X syndrome -- Glycogen synthase kinase-3: abnormalities and therapeutic potential in Fragile X syndrome -- Defects in Rho GTPase signaling to the spine actin cytoskeleton in FMR1 knockout mice -- Matrix metalloproteinases in Fragile X syndrome -- Ion channel dysfunction and FXS -- Reactivation of the FMR1 gene -- Part III. Clinical trials -- Drug discovery for targeted pharmacotherapy of Fragile X syndrome -- Overview of targeted double-blind, placebo-controlled clinical trials in Fragile X syndrome -- Reflections on clinical trials in Fragile X syndrome -- Outcome measures in clinical trials for Fragile X syndrome: the search for sensitive neurocognitive assays -- Fragile X research from a parental perspective. |