Alternative Splicing and Disease 1st Edition by Philippe Jeanteur ISBN 3642070817 9783642070815 by Philippe Jeanteur (editor) 9783540344483, 3540344489 instant download after payment.

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ISBN 10: 3642070817 
ISBN 13: 9783642070815
Author: Philippe Jeanteur

Alternative Splicing and Disease 1st Table of contents:

Part I: Fundamental Mechanisms of Alternative Splicing

• Chapter 1: The Spliceosome: Architecture, Dynamics, and Catalysis
  • Overview of Pre-mRNA Splicing
  • Composition and Assembly of the Major Spliceosome
  • Minor Spliceosome and Its Unique Features
  • Catalytic Mechanism of Splicing
  • Regulation of Spliceosome Assembly and Function
• Chapter 2: Cis-Regulatory Elements and Trans-Acting Factors in Alternative Splicing
  • Splicing Enhancers (ESEs, ISEs) and Silencers (ESSs, ISSs)
  • RNA Binding Proteins (RBPs): SR Proteins, hnRNPs, and Others
  • Sequence Motifs and RNA Structure
  • Chromatin Structure and Epigenetic Regulation of Splicing
• Chapter 3: Modes of Alternative Splicing and Their Functional Diversity
  • Exon Skipping/Inclusion
  • Mutually Exclusive Exons
  • Alternative 5' and 3' Splice Sites
  • Intron Retention
  • Alternative Promoters and Polyadenylation Sites
  • Impact on Protein Isoforms, Localization, and Function

Part II: Methodologies for Studying Alternative Splicing

• Chapter 4: High-Throughput Approaches to Alternative Splicing Discovery
  • RNA Sequencing (RNA-Seq) and Isoform Quantification
  • Splicing-Sensitive Microarrays
  • CLIP-Seq (Cross-Linking Immunoprecipitation followed by Sequencing)
  • Mass Spectrometry for Proteoform Analysis
• Chapter 5: Functional Validation and Manipulating Splicing
  • RT-PCR and Quantitative PCR for Isoform Detection
  • Minigene Assays for Splicing Element Characterization
  • CRISPR/Cas9 for Splicing Site and RBP Gene Editing
  • Antisense Oligonucleotides (ASOs) and Splice-Modulating Small Molecules

Part III: Alternative Splicing in Disease Pathogenesis

• Chapter 6: Alternative Splicing in Cancer
  • Oncogene and Tumor Suppressor Isoforms
  • Splicing Factor Dysregulation in Cancer
  • Specific Examples: CD44, FGFr2, PKM2, BCL-x
  • Splicing as a Driver of Tumorigenesis and Metastasis
• Chapter 7: Neurological and Neurodegenerative Disorders
  • Alternative Splicing in Brain Development and Function
  • Alzheimer's Disease: APP and Tau Splicing
  • Parkinson's Disease and ALS: SOD1, TDP-43, FUS
  • Spinal Muscular Atrophy (SMA): SMN2 Splicing
  • Autism Spectrum Disorders and Splicing Deregulation
• Chapter 8: Cardiovascular Diseases
  • Splicing Isoforms in Cardiac Development and Physiology
  • Alternative Splicing in Heart Failure and Arrhythmias
  • Vascular Disease and Endothelial Cell Splicing
  • Channelopathies and Splicing Defects
• Chapter 9: Metabolic and Autoimmune Diseases
  • Splicing in Diabetes and Insulin Signaling
  • Inflammatory Bowel Disease and Immune System Splicing
  • Rheumatoid Arthritis and Systemic Lupus Erythematosus
• Chapter 10: Rare Genetic Disorders and Splicing Mutations
  • Splice Site Mutations and Cryptic Splicing
  • Disease-Causing Mutations in Splicing Regulatory Elements
  • Examples: Cystic Fibrosis, Thalassemia, Familial Dysautonomia
  • The Role of Splicing in Orphan Diseases

Part IV: Therapeutic Strategies and Future Directions

• Chapter 11: Targeting Alternative Splicing for Therapeutic Intervention
  • Antisense Oligonucleotides (ASOs): Current and Emerging Therapies (e.g., Nusinersen for SMA)
  • Small Molecules Modulating Splicing Factors
  • CRISPR-Based Approaches for Splicing Correction
  • Challenges and Opportunities in Drug Development
• Chapter 12: Biomarkers and Diagnostics Based on Alternative Splicing
  • Splicing Isoforms as Diagnostic Markers
  • Prognostic and Predictive Biomarkers in Cancer
  • Liquid Biopsies and Splicing-Derived Exosomes
• Chapter 13: Emerging Concepts and Future Outlook
  • Circular RNAs and Their Regulatory Roles
  • RNA Modifications (Epitranscriptomics) and Splicing
  • Single-Cell RNA-Seq for Splicing Heterogeneity
  • Computational Prediction of Splicing Events and Disease Linkages
  • The Promise of Personalized Medicine Through Splicing Modulation

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Tags: Philippe Jeanteur, Alternative, Splicing