04764nam a22004815i 4500001001800000003000900018005001700027007001500044008004100059020001800100024003500118050001400153072001700167072002300184072001600207245012100223250001800344264006900362300006600431336002600497337002600523338003600549347002400585505196800609520122302577650001403800650002203814650001903836650001703855650001603872650002703888650002303915650001803938650001503956650001603971700008103987710003404068773002604102776003604128776003604164776003604200856004604236978-3-031-62945-7DE-He21320251030114552.0cr nn 008mamaa241130s2024    sz |    s    |||| 0|eng d  a97830316294577 a10.1007/978-3-031-62945-72doi 4aQH426-470 7aPSAK2bicssc 7aSCI0290002bisacsh 7aPSAK2thema14aThe RASopathiesh[electronic resource] :bGenetic Syndromes of the RAS/MAPK Pathway /cedited by Katherine A. Rauen.  a1st ed. 2024. 1aCham :bSpringer Nature Switzerland :bImprint: Springer,c2024.  aXXII, 914 p. 96 illus., 92 illus. in color.bonline resource.  atextbtxt2rdacontent  acomputerbc2rdamedia  aonline resourcebcr2rdacarrier  atext filebPDF2rda0 aPreface -- 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.  aThis 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. 0aGenetics. 0aMedical genetics. 0aNeurosciences. 0aNeurology . 0aPediatrics.14aGenetics and Genomics.24aClinical Genetics.24aNeuroscience.24aNeurology.24aPediatrics.1 aRauen, Katherine A.eeditor.4edt4http://id.loc.gov/vocabulary/relators/edt2 aSpringerLink (Online service)0 tSpringer Nature eBook08iPrinted edition:z978303162944008iPrinted edition:z978303162946408iPrinted edition:z978303162947140uhttps://doi.org/10.1007/978-3-031-62945-7