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Protein Therapeutics / / edited by Zuben E. Sauna, Chava Kimchi-Sarfaty
| Protein Therapeutics / / edited by Zuben E. Sauna, Chava Kimchi-Sarfaty |
| Edizione | [1st ed. 2017.] |
| Pubbl/distr/stampa | Cham : , : Springer International Publishing : , : Imprint : Springer, , 2017 |
| Descrizione fisica | 1 online resource (XIII, 182 p.) |
| Disciplina | 615.19 |
| Collana | Topics in Medicinal Chemistry |
| Soggetto topico |
Medicinal chemistry
Biomedical engineering Proteins Medicinal Chemistry Biomedical Engineering and Bioengineering Protein Science |
| ISBN | 3-319-41818-1 |
| Formato | Materiale a stampa  |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Protein Production in Eukaryotic Cells -- Production of Protein Therapeutics in the Quality by Design (QbD) Paradigm -- Characterization of Therapeutic Proteins -- Immunogenicity Lessons Learned from the Clinical Development of Vatreptacog Alfa, A Recombinant Activated Factor VII Analog, in Hemophilia with Inhibitors -- The Art of Gene Redesign and Recombinant Protein Production: Approaches and Perspectives. |
| Record Nr. | UNINA-9910254158803321 |
| Cham : , : Springer International Publishing : , : Imprint : Springer, , 2017 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Single nucleotide polymorphisms : human variation and a coming revolution in biology and medicine / / Zuben E. Sauna and Chava Kimchi-Sarfaty, editors
| Single nucleotide polymorphisms : human variation and a coming revolution in biology and medicine / / Zuben E. Sauna and Chava Kimchi-Sarfaty, editors |
| Pubbl/distr/stampa | Cham, Switzerland : , : Springer Nature Switzerland AG, , [2022] |
| Descrizione fisica | 1 online resource (244 pages) |
| Disciplina | 611.01816 |
| Soggetto topico | Single nucleotide polymorphisms |
| ISBN | 3-031-05616-7 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
Intro -- Introduction and Overview: Single Nucleotide Polymorphisms, Human Variation, and a Coming Revolution in Biology and Medicine -- Introduction -- Overview of the Book -- Part I: An Overview of Human Genome Sequencing and How to Access Information About SNVs -- Part II: A Broad Survey of SNPs, Their Classification into Synonymous and Non-synonymous, and the Undesirable Consequences of Using the Term "Silent" for Synonymous Changes -- Part III: The Role of SNPs in Human Diseases -- Part IV: An Examination of the Mechanisms by Which Synonymous Mutations Affect Protein Levels or Protein Folding, Which Affect Human Physiology and Response to Therapy -- Part V: The Role of SNPs in Personalized Medicine and the Platform Technology of Codon Optimization -- Summary -- References -- Contents -- Part I: An Overview of Human Genome Sequencing and How to Access Information About SNVs -- Chapter 1: SNPs Classification and Terminology: dbSNP Reference SNP (rs) Gene and Consequence Annotation -- 1.1 Introduction -- 1.2 What Is dbSNP Used for? -- 1.3 dbSNP Molecular Consequences (AKA Function Class) -- 1.4 Computed Molecular vs. Observed Functional Consequences -- 1.5 Computing Molecular Consequences in dbSNP -- 1.6 Splicing Variants -- 1.7 Other Non-CDS Variants -- 1.8 Searching dbSNP by Variant Consequences -- References -- Part II: A Broad Survey of SNPs, Their Classification into Synonymous and Non-synonymous and the Undesirable Consequences of Using the Term "Silent" for Synonymous Changes -- Chapter 2: Evolutionary Forces That Generate SNPs: The Evolutionary Impacts of Synonymous Mutations -- 2.1 Introduction -- 2.2 Evidence for the Evolutionary Impacts of Synonymous Mutations -- 2.2.1 Indirect Evidence -- 2.2.2 Direct Evidence -- 2.3 Changing Evolutionary Perspectives on Synonymous Mutations -- 2.3.1 Phase I: Mostly Neutral.
2.3.2 Phase II: Weak Translational Selection -- 2.3.3 Phase III: Pervasive (Sometimes Strong) Selection, Diverse Mechanisms -- 2.4 Summary and Future Directions -- 2.4.1 Building a Cohesive Evolutionary Framework -- 2.4.2 Predicting the Evolutionary Fate of Synonymous Mutations -- 2.4.3 Developing New Methods to Identify Signatures of Selection -- 2.4.4 Determining the Evolutionary History of Mechanisms Driving Selection at Synonymous Sites -- References -- Chapter 3: Recording Silence - Accurate Annotation of the Genetic Sequence Is Required to Better Understand How Synonymous Coding Affects Protein Structure and Disease -- 3.1 Synonymous But Not Silent -- 3.2 An Ironic Oversight in Structural Biology -- 3.3 Lost Opportunities in the Machine Learning Revolution -- 3.4 Silently Shaping the Edifice of Life -- References -- Part III: The Role of SNPs in Human Disease -- Chapter 4: GWAS to Identify SNPs Associated with Common Diseases and Individual Risk: Genome Wide Association Studies (GWAS) to Identify SNPs Associated with Common Diseases and Individual Risk -- 4.1 Introduction -- 4.2 Fundamental Concepts of GWAS -- 4.2.1 SNPs and Linkage Disequilibrium -- 4.2.2 GWAS Data Interpretation -- 4.2.2.1 Association Model: Determining Genotype - Phenotype Associations -- 4.2.2.2 Classifier Model: Disease Risk Prediction -- 4.3 GWAS Applications and Impact -- 4.3.1 Expanding the Scientific Landscape: Elucidating the Origins and Mechanisms of Disease Manifestation -- 4.3.2 Elevating Patient Care: Identifying Novel Therapeutic Targets, Improving Individual Risk Assessment and Harnessing Personalized Medicine -- 4.3.3 Commercial: Direct-to-Consumer Personal Genotyping -- 4.4 GWAS Limitations and Controversy -- 4.4.1 Missing Heritability -- 4.4.2 Other Limiting Factors -- 4.5 Discovering True SNP-Associations: Factors to Consider -- 4.5.1 Population Sampling. 4.5.2 Technology -- 4.5.3 Data Quality -- 4.5.4 Data Analysis -- 4.5.5 Data Validation -- 4.5.6 Data Meta-Analysis -- 4.5.7 Follow-Up Analysis of Confirmed Signals -- 4.6 Concluding Remarks -- 4.7 Notes -- References -- Untitled -- Chapter 5: SNPs Ability to Influence Disease Risk: Breaking the Silence on Synonymous Mutations in Cancer -- 5.1 Introduction -- 5.2 Why Synonymous Mutations Have Remained Silent for a Long Time in the Cancer Field -- 5.3 Screenings for Synonymous Cancer Driver Mutations -- 5.4 How Synonymous Mutations Break the Silence -- 5.4.1 Splicing -- 5.4.2 mRNA Structure -- 5.4.3 Codon Usage -- 5.4.4 Protein Stability -- 5.4.5 Other Mechanisms -- 5.5 What Is Needed to Entirely Break the Silence on Synonymous Mutations? -- References -- Part IV: An Examination of the Mechanisms by Which Synonymous Mutations Affect Protein Levels or Protein Folding Which Affect Human Physiology and Response to Therapy -- Chapter 6: An Examination of Mechanisms by which Synonymous Mutations may Alter Protein Levels, Structure and Functions -- 6.1 Introduction -- 6.2 Proposed Mechanisms by Which Synonymous Mutations Alter Translation and Protein Folding -- 6.2.1 Synonymous Mutations Affecting Pre-mRNA Processing -- 6.2.1.1 Examples of sSNP-Associated Pre-mRNA Processing Defects -- 6.2.2 Altered Binding of Micro-RNAs Targeting Protein-Coding Regions (ORFs) -- 6.2.2.1 Examples of Human Disorders with sSNPs Altering Coding Sequence Targets of miRNAs -- 6.2.3 Codon Optimality and tRNA Abundance -- 6.2.3.1 Switch from a Frequent to a Rare Codon with Low tRNA Abundance -- 6.2.3.2 Switch from a High to Very Low Abundance tRNA Decoder -- 6.2.3.3 Switch from a Rare to a More Frequent Codon with High tRNA Abundance -- 6.2.4 Codon Optimality, Synonymous Codon Usage, and mRNA Half-Life -- 6.2.4.1 Synonymous Mutation Resulting in Reduced mRNA Stability. 6.2.5 Synonymous Mutations Altering mRNA Secondary Structures Without Changing mRNA Half-Life -- 6.2.6 Predicting the Consequences of Synonymous Mutations -- 6.2.6.1 In Silico Analysis of sSNPs in CFTR -- 6.2.7 Multiple Synonymous Mutations and Their Consequences. -- 6.3 Prospective -- References -- Chapter 7: Methods to Evaluate the Effects of Synonymous Variants -- 7.1 Introduction -- 7.2 Exploring the Effects of Synonymous Variants on mRNA -- 7.2.1 Fitness, Codon Usage Bias, and mRNA Transcription -- 7.2.2 Evaluation of mRNA Structure and Stability -- 7.2.3 Study of Pre-mRNA Splicing -- 7.2.4 Detecting Changes in miRNA Binding -- 7.3 Exploring the Effects of Synonymous Variants on Proteins -- 7.3.1 Monitoring Translation Kinetics -- 7.3.2 Analysis of Subtle Structural Changes -- 7.3.3 Assessment of Stability Changes -- 7.3.4 Evaluation of Immunogenicity Risk -- 7.4 In-Silico Tools for Predicting Comprehensive Effects of Synonymous Variants -- References -- Part V: The Role of SNPs in Personalized Medicine and the Platform Technology of Codon Optimization -- Chapter 8: Using Genome Wide Studies to Generate and Test Hypotheses that Provide Mechanistic Details of How Synonymous Codons Affect Protein Structure and Function: Functional SNPs in the Age of Precision Medicine -- 8.1 Genetics in Precision Medicine -- 8.2 Functional Role of Coding and Non-coding SNPs -- 8.3 Future Directions and Challenges -- References -- Chapter 9: SNPs and Personalized Medicine: Scrutinizing Pathogenic Synonymous Mutations for Precision Oncology -- 9.1 Introduction -- 9.2 Biomarkers and Next-Generation Sequencing for Personalized Medicine -- 9.3 The Impact of Pathogenic Synonymous Mutations in Prognosis and Precision Medicine -- 9.4 Algorithms for Predicting Pathogenic Synonymous Mutations -- 9.5 Concluding Remarks and Future Perspectives -- References. Chapter 10: Condon Optimization: Codon Optimization of Therapeutic Proteins: Suggested Criteria for Increased Efficacy and Safety -- 10.1 Introduction -- 10.2 Protein Synthesis Primer -- 10.2.1 Translation Initiation -- 10.2.2 Polypeptide Synthesis -- 10.3 Codon Optimization -- 10.3.1 Codon Usage and Other Features of mRNA That Affect Protein Expression -- 10.3.2 Codon Optimization Approaches -- 10.3.3 Widespread Acceptance of Codon Optimization -- 10.4 Potential Problems with Codon Optimization for Therapeutics -- 10.4.1 Overlapping Information -- 10.4.2 Questionable Assumptions in Higher Eukaryotes -- 10.4.3 Disruption of Protein Conformation -- 10.4.4 Immunogenicity -- 10.5 Potential Benefits of Codon Optimization -- 10.6 Potential Risks of Codon Optimization for Gene Therapy and mRNA Therapeutics -- 10.7 Alternative Technologies for Increased Protein Production -- 10.8 Recommendations for Therapeutic Applications -- References -- Index. |
| Record Nr. | UNINA-9910586583103321 |
| Cham, Switzerland : , : Springer Nature Switzerland AG, , [2022] | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||