صورة الغلاف

The RASopathies Genetic Syndromes of the RAS/MAPK Pathway /

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 syn...

وصف كامل

محفوظ في:
التفاصيل البيبلوغرافية
مؤلف مشترك: SpringerLink (Online service)
مؤلفون آخرون: Rauen, Katherine A. (المحرر)
التنسيق: الكتروني كتاب الكتروني
اللغة:الإنجليزية
منشور في: Cham : Springer Nature Switzerland : Imprint: Springer, 2024.
الطبعة:1st ed. 2024.
الموضوعات:
Genetics.
Medical genetics.
Neurosciences.
Neurology .
Pediatrics.
Genetics and Genomics.
Clinical Genetics.
Neuroscience.
Neurology.
الوصول للمادة أونلاين:https://doi.org/10.1007/978-3-031-62945-7
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جدول المحتويات:
  • 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.

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