RASopathies
portes grátis
RASopathies
Genetic Syndromes of the RAS/MAPK Pathway
Rauen, Katherine A.
Springer International Publishing AG
12/2024
914
Dura
9783031629440
Pré-lançamento - envio 15 a 20 dias após a sua edição
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Preface.- What is a RASopathy.- Neuro?bromatosis 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.
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genetic syndromes;genetic diseases;signal transduction;genomics;RAS pathway;animal modeling;Noonan syndrome;Costello syndrome;Legius syndrome;malformations
Preface.- What is a RASopathy.- Neuro?bromatosis 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.
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