Noonan Syndrome and Related Disorders - A Matter of Deregulated Ras Signaling
1st Edition
Published on 2. October 2008
Book
Hardback
168 pages
978-3-8055-8653-5 (ISBN)
Description
In this book, internationally recognized experts review the most important advances regarding the group of human developmental disorders caused by constitutive dysregulation of the Ras-MAPK signalling pathway, including Noonan, cardiofaciocutaneous, LEOPARD and Costello syndromes. A historical overview given by Jacqueline Noonan is followed by chapters dedicated to comprehensive clinical summaries of each condition and up-to-date reviews on associated gene mutations and molecular pathomechanisms. Genotypephenotype correlations are outlined. Further topics include the characterization and underlying mechanisms of common abnormalities in these syndromes such as growth failure, heart defects, and tumor risk. Animal models and the relation to neurofibromatosis type 1 are discussed. The final chapter covers the critical area of treatment including prospects emerging from an improved understanding of the pathophysiology of these disorders. Providing a concise overview of a very rapidly developing field and suggesting ways how to integrate the latest findings from basic molecular research into clinical practice, this book will be of interest to clinical geneticists, pediatricians, pediatric cardiologists, and pediatric endocrinologists, as well as to human molecular geneticists and other basic researchers working on the RAS pathway.
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Content
Editorial: Schmid, M.; Preface: Zenker, M.; History of Noonan Syndrome and Related Disorders: Noonan, J.A.; The Clinical Phenotype of Noonan Syndrome: Allanson, J.E.; Molecular Genetics of Noonan Syndrome: Tartaglia, M.; Gelb, B.D.; Genotype-Phenotype Correlations in Noonan Syndrome: Sarkozy, A.; Digilio, M.C.; Marino, B.; Dallapiccola, B.; LEOPARD Syndrome: Clinical Aspects and Molecular Pathogenesis: Sarkozy, A.; Digilio, M.C.; Zampino, G.; Dallapiccola, B.; Tartaglia, M.; Gelb, B.D.; The Clinical Phenotype of Cardiofaciocutaneous Syndrome (CFC): Roberts, A.E.; Molecular Causes of the Cardio-Facio-Cutaneous Syndrome: Tidyman, W.E.; Rauen, K.A.; The Clinical Phenotype of Costello Syndrome: Kerr, B.; The Molecular Basis of Costello Syndrome: Sol-Church, K.; Gripp, K.W.; Endocrine Regulation of Growth and Short Stature in Noonan Syndrome: Binder, G.; The Heart in Ras-MAPK Pathway Disorders: Digilio, M.C.; Marino, B.; Sarkozy, A.; Versacci, P.; Dallapiccola, B.; Myeloproliferative Disease and Cancer in Persons with Noonan Syndrome and Related Disorders: Kratz, C.; Neurofibromatosis Type 1-Noonan Syndrome: What's the Link?: Denayer, E.; Legius, E.; Animal Models for Noonan Syndrome and Related Disorders: Araki, T.; Neel, B.G.; Towards a Treatment for RAS-MAPK Pathway Disorders: Joshi, V.A.; Roberts, A.E.; Kucherlapati, R.; Author Index; Subject Index.