05160nam a22005655i 4500 978-3-031-62945-7 DE-He213 20251030114552.0 cr nn 008mamaa 241130s2024 sz | s |||| 0|eng d 9783031629457 978-3-031-62945-7 10.1007/978-3-031-62945-7 doi QH426-470 PSAK bicssc SCI029000 bisacsh PSAK thema The RASopathies [electronic resource] : Genetic Syndromes of the RAS/MAPK Pathway / edited by Katherine A. Rauen. 1st ed. 2024. Cham : Springer Nature Switzerland : Imprint: Springer, 2024. XXII, 914 p. 96 illus., 92 illus. in color. online resource. text txt rdacontent computer c rdamedia online resource cr rdacarrier text file PDF rda Preface -- What is a RASopathy -- Neurofibromatosis Type 1 -- Legius Syndrome -- Noonan Syndrome -- Noonan Syndrome with Multiple Lentigines -- Costello Syndrome -- Cardio-facio-cutaneous Syndrome -- Capillary Malformation – Arteriovenous Malformation Syndrome -- SYNGAP1 – The Gene and Syndrome -- Central Conducting Lymphatic Anomalies -- Defining Pathogenic Variants in RASopathies -- Molecular Genetics of Noonan Syndrome and other RASopathies -- Comprehensive Care for Patients with RASopathies -- Precision Medicine in RASopathies: Tailored Disease Management through Enhanced Approaches, Disease Delineation, and Pathway-Specific Therapies -- Genetic Counseling and the RASopathies -- The Importance of Advocacy in the RASopathies -- The RAS Signaling Network and Cancer -- The RAS-regulated RAF-MEK1/2-ERK1/2 Protein Kinase Pathway – the path most travelled in RASopathies -- The non-canonical RAS/MAPK pathway and the RASopathies -- Understanding the Ras in RASopathies -- RAS Family Interactions: The SHOC2-MRAS-PP1 complex in Noonan syndrome -- RASopathy Genes: Germline Risk and Somatic Cancers -- Cancer in Neurofibromatosis type 1 -- Prenatal Manifestations of the RASopathies -- Cardiovascular Disease in the RASopathies -- Cognitive Development and Learning in RASopathies -- Behavioral Profile in RASopathies -- Autism and Social Behavior in RASopathies -- Epilepsy in RASopathies -- Speech-Language Pathology in the RASopathies -- Ophthalmic Manifestations in RASopathies -- Dermatological Associations in the RASopathies -- Mosaic RASopathies -- Craniofacial and Dental Development in the RASopathies -- Skeletal Muscle Development in the RASopathies -- Orthopedic Issues of the RASopathies -- Drosophila models of RASopathies -- Neurofibromatosis Type 1 Mouse Models -- Neurofibromatosis type I: Preclinical Modeling -- Modeling the non-NF1 RASopathies -- Clinical Studies and Small Molecule Inhibitors for RASopathy Treatment -- Index. This book presents comprehensive coverage of the RASopathies, one of the largest known recognizable patterns of malformation syndromes, affecting approximately 1 in 1,000 people. These syndromes include neurofibromatosis type 1, Noonan syndrome, Noonan syndrome with multiple lentigines, Costello syndrome, cardio-facio-cutaneous syndrome, Legius syndrome, capillary malformation-arteriovenous malformation syndrome, SYNGAP1 syndrome and central conducting lymphatic anomalies. Noted physician and authority Katherine Rauen and an assembly of the top international experts present detailed discussions of both the science and clinical implications of these fascinating disorders. The major topics covered in this book include the syndromes and genes, the RAS pathway, phenotypic features, animal modeling and treatments. The book will appeal to a wide audience, including clinicians and basic scientists alike such as medical geneticists, genetics counsellors, oncologists, neurologists, cardiologists, dermatologists, behavioralists, orthopedists, ophthalmologists, neuroscientists, RAS biologists, and signal transductionists. This book is also intended for advocate leaders, trainees, and families with RASopathies. Genetics. 68863 Medical genetics. 64976 Neurosciences. 68384 Neurology . 66816 Pediatrics. 64087 Genetics and Genomics. 68866 Clinical Genetics. 73305 Neuroscience. 68386 Neurology. 66816 Pediatrics. 64087 Rauen, Katherine A. editor. edt http://id.loc.gov/vocabulary/relators/edt 88262 SpringerLink (Online service) Springer Nature eBook Printed edition: 9783031629440 Printed edition: 9783031629464 Printed edition: 9783031629471 https://doi.org/10.1007/978-3-031-62945-7 ZDB-2-SBL ZDB-2-SXB 65322 65322