Medical genetics Books

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Book SynopsisTwo leaders in the field of genetics—a bioethicist-health lawyer and an obstetrician-gynecologist geneticist—answer the most pressing questions about the application of new genetics to our universal medicine and what personalized medicine means for individual healthcare.Breakthroughs in genetic research are changing modern medicine and pharmaceuticals. But what are these changes and how do they affect our individual care? Genomic Messages examines these groundbreaking changes and the questions they raise: What kind of specific medical innovation do we have to look forward to now and tomorrow? How will this “flood” of genetic messages change our lives, our interaction with our physicians and our healthcare system?Groundbreaking and provocative, Genomic Messages fuses the often conflicting worlds of medicine and law to provide information and insight that will impact the health choices of every one of us, from how medicine is pra

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Book SynopsisAbout our authors Mark F. Sanders has been a faculty member in the Department of Molecular and Cellular Biology at the University of California, Davis, since 1985. In that time, he has taught more than 150 genetics courses to nearly 35,000 undergraduate students. Although he specializes in teaching the genetics course for which this book is written, his genetics teaching experience also includes a genetics laboratory course, an advanced human genetics course for biology majors, and a human heredity course for nonscience majors, as well as introductory biology and courses in population genetics and evolution. He has also served as an advisor to undergraduate students and in undergraduate education administration, and he has directed several undergraduate education programs. Dr. Sanders received his B.A. degree in Anthropology from San Francisco State University, his M.A. and Ph.D. degrees in Biological Anthropology from the University of California, LTable of Contents1. The Molecular Basis of Heredity, Variation, and Evolution 2. Transmission Genetics 3. Cell Division and Chromosome Heredity 4. Inheritance Patterns of Single Genes and Gene Interaction 5. Genetic Linkage and Mapping in Eukaryotes 6. Genetic Analysis and Mapping in Bacteria and Bacteriophage Application Chapter: Part I: Genetic Counseling 7. DNA Structure and Replication 8. Molecular Biology of Transcription and RNA Processing 9. The Molecular Biology of Translation Application Chapter: Part II: Genetic Testing 10. Chromosome Chapter Title TBD 11. Gene Mutation, DNA Repair, and Homologous Recombination 12. Chromosome Chapter Title TBD 13. Regulation of Gene Expression in Bacteria and Bacteriophage 14. Regulation of Gene Expression in Eukaryotes 15. Analysis of Gene Function by Forward Genetics and Reverse Genetics Application Chapter: Part III: Cancer Genetics 16. Recombinant DNA Technology and Its Applications 17. Genomics: Genetics from a Whole-Genome Perspective 18. Organelle Inheritance and the Evolution of Organelle Genomes 19. Developmental Genetics 20. Genetic Analysis of Quantitative Traits Application Chapter: IV: Personalized Medicine 21. Population Genetics and Evolution at the Population, Species, and Molecular Levels Application Chapter: V: Forensic Genetics

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Book SynopsisOne of the world’s leading cultural psychologists debunks the hype surrounding DNA testing and puts to rest our mistaken anxieties about our genes.Trade Review"Steven Heine is one of the leading cultural psychologists in the world. In DNA Is Not Destiny, Heine serves as a trustworthy guide through the moral minefield of genetic differences and lays out a new way to think rationally about our genes." -- Jonathan Haidt, Thomas Cooley Professor of Ethical Leadership at New York University's Stern School of Business and author of The Righteous Mind "Steven Heine is one of the leading cultural psychologists in the world. In DNA Is Not Destiny, Heine serves as a trustworthy guide through the moral minefield of genetic differences and lays out a new way to think rationally about our genes." -- Jonathan Haidt, Thomas Cooley Professor of Ethical Leadership at New York University's Stern School of Business and author of The Righteous Mind "At some point everyone wonders: 'Who am I and where did I come from?' Is there any question more fascinating? In this important book, Steve Heine tells us what our DNA can and cannot reveal about our nature, our origins, and our futures. The material is fascinating, and Heine's vibrant writing makes it come alive with personal significance for every reader." -- Carol Dweck, Lewis and Virginia Eaton Professor of Psychology at Stanford University and author of Mindset "At some point everyone wonders: 'Who am I and where did I come from?' Is there any question more fascinating? In this important book, Steve Heine tells us what our DNA can and cannot reveal about our nature, our origins, and our futures. The material is fascinating, and Heine's vibrant writing makes it come alive with personal significance for every reader." -- Carol Dweck, Lewis and Virginia Eaton Professor of Psychology at Stanford University and author of Mindset "Your genes contribute to your beliefs, behaviors, and life outcomes. Only in rare cases are they determinative. This brilliant, invaluable book sets straight crucial matters of heredity and environment and their interaction-and does so in lively and lucid prose." -- Richard Nisbett, Theodore M. Newcomb Distinguished Professor of Social Psychology at the University of Michigan and author of Mindware "Your genes contribute to your beliefs, behaviors, and life outcomes. Only in rare cases are they determinative. This brilliant, invaluable book sets straight crucial matters of heredity and environment and their interaction-and does so in lively and lucid prose." -- Richard Nisbett, Theodore M. Newcomb Distinguished Professor of Social Psychology at the University of Michigan and author of Mindware "A highly accessible and entertaining guide to genes: what they are, how they work, and most important, what they can and cannot explain. For all the dinner table or classroom conversations on the genetic bases of gender, race, or intelligence; the morality of genetic engineering; or the hardest question of all, 'Who am I?,' DNA Is Not Destiny is the new must-read." -- Hazel Markus, Davis-Brack Professor in the Behavioral Sciences at Stanford University and author of Clash!: How to Thrive in a Multicultural World "A highly accessible and entertaining guide to genes: what they are, how they work, and most important, what they can and cannot explain. For all the dinner table or classroom conversations on the genetic bases of gender, race, or intelligence; the morality of genetic engineering; or the hardest question of all, "Who am I?," DNA Is Not Destiny is the new must-read." -- Hazel Markus, Davis-Brack Professor in the Behavioral Sciences at Stanford University and author of Clash!: How to Thrive in a Multicultural World "Heine ranges broadly, discussing both historical and ethical concerns, and draws heavily on social science research to investigate how people's beliefs about the power of genes influence their behavior. Heine also makes a strident critique of the direct-to-consumer genetic testing industry and a robust defense of most genetically modified organisms... Enjoyable and informative." -- Publishers Weekly "An accessible contribution to what the author calls 'genetic literacy' and a satisfyingly hard-edged work of popular science." -- Kirkus Reviews

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Book SynopsisMolecular Analysis and Genome Discovery, Second Edition is a completely revised and updated new edition of this successful book. The text provides a comprehensive overview of recent developments in the fast moving field of molecular based diagnostics of disease markers. Key concepts and applications are provided alongside practical information on current techniques currently being researched and developed. Each chapter offers an up-to-date analysis of the subject encompassing the very latest technology platforms and is an essential reference for researchers in the field looking for an up-to-date overview of the subject. The book will also be an indispensable resource for those working in the biotechnology and pharmaceutical industries. New for this edition: chapters on Genotyping through Mutation Detection; Differential Gene Expression; Haplotyping and Molecular Profiling.Trade Review“It will be of immense value to students, biotechnologists, and scientists in the pharmaceutical industry. This update absolutely justifies replacement of the first edition.” (Doody’s, 24 August 2012)Table of ContentsPreface ix Contributors xi 1 Overview of Genotyping 1 Monica Bayes and Ivo Glynne Gut Introduction 1 Methods for interrogating SNPs 3 Commercial platforms for SNP genotyping 7 Practical recommendations 11 SNP databases 14 Methylation analysis 15 Copy number variation analysis 16 Second generation sequencing technologies 17 Conclusions 18 References 19 2 DNA Chip Analysis in Genome Discovery 24 Ross N. Nazar and Jane Robb Introduction 24 Interrogating a genome 25 Cross-species hybridization 28 Comparative genomic hybridization and microarray-based genotyping 31 Barcodes, DNA microarrays and organism identification 34 Concluding remarks 36 References 37 3 qPCR, Theory, Reliability and Use in Molecular Analysis 43 Jamie Murphy and Stephen A. Bustin Sample preparation 44 RNA quality 45 Reagents 46 Assay design 47 Transparency of published data 51 Further considerations 52 Conclusion 52 References 52 4 DNA Analysis in Droplet-Based Microfluidic Devices 56 Pinar Ozdemir and Yonghao Zhang Introduction 56 Continuous-flow microPCR chips 58 PCR inhibition and carryover contamination 62 PCR in droplets 65 Conclusions 73 References 75 5 High-Resolution Melt Profiling 81 Steven F. Dobrowolski and Carl T. Wittwer Introduction 81 Basic concepts of melt profiling 82 HRMP and polymerase chain reaction 84 DNA specimens and HRMP 89 Determining a temperature window for melting 90 Dyes and platforms for melt profiling 92 Scanning PCR products for sequence variation 93 Genotyping with high-resolution melt profiling 102 Other applications of HRMP 108 Final notes 109 References 110 6 Massively Parallel Sequencing 114 Tracy Tucker, Marco Marra and Jan M. Friedman Sanger sequencing 114 Massively parallel sequencing 114 Commercially available massively parallel sequencers 115 Future technologies 122 Paired-end or mate-paired reads 123 Target-enrichment strategies for MPS 124 Applications of MPS 125 Summary 131 References 132 7 Aptamers for Analysis: Nucleic Acids Ligands in the Post-Genomic Era 135 Pedro Nadal, Alessandro Pinto, Marketa Svobodova and Ciara K. O'Sullivan Introduction 135 SELEX 136 Aptamers in analysis 147 Imaging with aptamers 157 Conclusions, outlooks and perspectives 160 References 161 8 Use of Nanotechnology for Enhancing of Cancer Biomarker Discovery and Analysis: A Molecular Approach 175 Farid E. Ahmed Introduction 175 Proteomics and nanotechnology 176 Nanoscale multicomponent separation 176 Nanoscale protein detection strategies 178 Surface-enhanced Raman scattering (SERS) 182 References 188 9 Chip-Based Proteomics 193 Julian Bailes, Andrew Milnthorpe, Sandra Smieszek and Mikhail Soloviev Introduction 193 Lab-on-a-chip 194 Arrays 196 Chip-based mass spectrometry 203 Surface plasmon resonance (SPR) and quartz crystal microbalance (QCM) chip instruments 205 Microfluidics 207 Conclusion 209 References 211 10 Antibody Microarrays in Proteome Profiling 219 Mohamed Saiel Saeed Alhamdani and Jorg D. Hoheisel Introduction 219 Technical aspects 220 Antibody array applications 226 Summary 229 Acknowledgements 229 References 229 11 Biomarker Detection and Molecular Profiling by Multiplex Microbead Suspension Array Based Immunoproteomics 244 V. V. Krishhan, Imran H. Khan and Paul A. Luciw Introduction 244 Principles of microbead-based multiplexing 245 Experimental aspects of the multiplex microbead assay 247 Multiplex microbead assay design and comparison with other methods 250 Applications of the multiplex microbead assay system for biomedical research and clinical studies 252 Selected investigational fields for multiplex analysis and examples of applications 255 Challenges and current limitations 255 Summary and future directions 259 Acknowledgements 261 References 261 12 Mass Spectrometry in Metabolomics 271 William J. Griffiths and Yuqin Wang Introduction 271 Sample collection and preparation 272 Data acquisition 274 Data analysis 279 Applications 283 Conclusion 294 Acknowledgement 294 References 295 Index 299

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Book SynopsisIt presents information on treatment: genetic counseling, pharmacotherapy, intervention, and gene therapy.Trade ReviewThis useful and unique book can be used as a reference for specific issues related to fragile X, as an overview of particular topics, and as a comprehensive review of all of the various aspects of this condition. -- William O. Walker, Jr. Doody's Health Sciences Review Includes updated chapters on the cytogenetic and molecular biology of the FXS mutation and premutation. The first half addresses the diagnosis and research aspects and is well referenced. The latter half is dedicated to treatment and intervention. The chapter that emphasizes an integrated approach to intervention could easily qualify for continuing medical education credit. Journal of the American Medical Association This book should sit on the library shelves of clinical geneticists. It is well written, well referenced, and should become well thumbed. Journal of Medical Genetics Answers nearly all the questions that parents or clinicians might raise about fragile X syndrome... Can be recommended confidently as a thoroughly up-to-date, reliable, and informative account of the condition. The Lancet The clinical and cytogenetic material in this book is excellent and provides a strong background for physicians and students... Fragile X Syndrome still presents the best comprehensive treatment of this complex disorder. Physicians, students, and other interested professionals can either read this book from cover to cover or select the chapters that interest or apply to them. New England Journal of Medicine This useful and unique book can be used as a reference for specific issues related to fragile X, as an overview of particular topics, and as a comprehensive review of all of teh various aspects of this condition. -- William O. Walker, Jr.MD Doody's Book Reviews I strongly encourage genetic counselors and clinical geneticists to invest in a copy of this book. It is an invaluable resource on all aspects of Fragile X syndrom from genetic counceling, molecular testing, and prenatal diagnosis, to the latest treatment, education, and interventional strategies. When searching for up-to-date information on Fragile X syndrom, this book constitutes as one-stop-shopping. -- Barbara Pettersen Journal of Genetic Counseling This book is essential on the desk of everyone committed to the care of fragile X patients and to the research of the fascinating syndrome. Human GeneticsTable of ContentsContents: List of Contributors Preface to the Third Edition I Diagnosis and Research 1 The Physical and Behavioral Phenotype - Randi Jenssen Hagerman 2 The Molecular Biology of the Fragile X Mutation - W. Ted Brown 3 Epidemiology - Stephanie Sherman 4 FMR1 Protein Studies and Animal Model for Fragile X Syndrome - Ben. A. Oostra and Andre T. Hoogeveen 5 Brain Structure and Functions of FMR1 Protein - Scott Irwin, Roberto Galvez, Ivan Jeanne Weiler, Andrea Beckel-Mitchener, and William Greenough 6 Neuropsychology - Loisa Bennetto and Bruce F. Pennington II Treatment and Intervention 7 Genetic Counseling - Louise W. Gane and Amy Cronister 8 Medical Follow-up and Pharmacotherapy 9 The Treatment of Emotional and Behavioral Problems - Jennifer L. Hills Epstein, Karen Riley, and William E. Sobesky 10 An Integrated Approach to Intervention - Sarah Scharfenaker, Rebecca O'Connor, Tracy Stackhouse, Marcia L. Braden, and Kristen Gray 11 Academic Interventions - Marcia L. Braden 12 FMRI Gene Expression and Prospects for Gene Therapy - Paul J. Hagerman Appendix 1: General Information about Fragile X Syndrome - Susan Harris Appendix 2: Computer Software Information - Andrew Halpern, Lisa Nobel, and Kristen Gray Appendix 3: Learning Materials and Equipment - Andrew Halpern, Sarah Scharfenaker, Rebecca O'Connor, Tracy Stackhouse, Marcia L. Braden, and Kristen Gray Appendix 4: Toilet Training the Child with Fragile X Syndrome - Franci Crepeau-Hobson and Rebecca O'Connor INDEX

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Book SynopsisD., University of WashingtonTrade ReviewEthics and Newborn Genetic Screening... brings together some of the best minds and clearest thinking on the issues at stake. -- Fiona Alice Miller American Journal of Human Genetics 2009

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Book Synopsis“Extraordinary and wide-ranging . . . a literary feat that simultaneously builds and excavates identity.”—The New York Times Book Review (Editors’ Choice)  Roxane Gay’s Audacious Book Club Pick • Finalist for the National Book Critics Circle’s John Leonard Prize • An acclaimed writer goes searching for the truth about her complicated Southern family—and finds that our obsession with ancestors opens up new ways of seeing ourselves—in this “brilliant mix of personal memoir and cultural observation” (The Boston Globe). ONE OF THE BEST BOOKS OF THE YEAR: The New Yorker, NPR, Time, Entertainment Weekly, The Washington Post, The Boston Globe, The Atlanta Journal-Constitution, Esquire, Garden & GunMaud Newton’s ancestors have fascinated her since she was a girl. Her mother’s father was said to have married thirteen

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Book SynopsisPain Genetics: Basic to Translational Scienceis a timely synthesis of the key areas of research informing our understanding of the genetic basis of pain. The book opens with foundational information on basic genetic mechanisms underlying pain perception and progresses recently discovered complex concepts facing the field. The coverage is wide-ranging and will serves as an excellent entry point into understating the genetics of pain as well as providing a single resource for established researchers looking for a better understanding of the diverse strands of research going on in the area. With contributors painstakingly selected to provide a broad range of perspectives and research,Pain Geneticswill be a valuable resource for geneticists, neuroscientists, and biomedical professionals alike.Table of ContentsEditors’ Biographies xi Contributors xiii 1 How Do Pain Genes Affect Pain Experience? 1 Marshall Devor Introduction 2 Heritability of Pain: Historical Roots 2 Why is Pain Genetics Interesting and Potentially Useful? 4 What Are Pain Genes? 8 How Do Pain Genes Affect Pain Experience? 9 Disease Susceptibility Genes Versus Pain Susceptibility Genes 12 Perspective 13 Acknowledgments 13 2 Conservation of Pain Genes Across Evolution 15 Thang Manh Khuong and G. Greg Neely Introduction 15 Anatomical Organization of Nociception Apparatus in Mammals and Drosophila 16 Acute Heat Pain in Mammals 16 Acute Heat Nociception in Drosophila 18 Mechanical Pain in Mammals 19 Mechanical Nociception in Drosophila 19 Chemical Nociception in Mammals 21 Chemical Nociception in Drosophila 21 Inflammatory Pain in Mammals 22 Persistent Pain in Drosophila 22 Neuropathic Pain in Mammals 25 Structural Reorganizations of Nerve Fibers in Neuropathic Pain 25 Mammalian Neuropathic Pain Genes That Are Conserved in Drosophila 25 Long-Term Potentiation and Long-Term Depression in Neuropathic Pain in Mammals 28 Neuropathic Pain in Drosophila 30 Conclusions 30 3 Defining Human Pain Phenotypes for Genetic Association Studies 37 Christopher Sivert Nielsen Introduction 37 What is a Pain Phenotype? 38 Pain Scaling 39 Heritability 40 Genotype–Phenotype Matching 41 Reliability and Temporal Stability 41 Clinical Phenotypes 43 Designing Clinical Pain Genetic Studies 43 The Heritability of Specific Clinical Pain Conditions 45 Experimental Phenotypes 45 The Heritability of Experimental Phenotypes 46 Extended Phenotypes 47 Practical Concerns 47 Conclusions 48 Conflict of Interest Statement 48 4 Genetic Contributions to Pain and Analgesia: Interactions with Sex and Stress 51 Roger B. Fillingim and Jeffrey S. Mogil Introduction 51 Brief Overview of Sex and Gender Differences in Pain and Analgesia 52 Brief Overview of Stress and Pain/Analgesia 52 Sex X Gene Interactions in Pain and Analgesia 53 Summary 57 5 Abnormal Pain Conditions in Humans Related to Genetic Mutations 61 Christopher Geoffrey Woods Introduction to SCN9A, NTRK1, and NGF and the Roles They Play in Pain 61 Introduction to SCN9A and Its Omnipotent Role in Pain Sensing 62 Introduction to NTRK1 and Its Role in Development and Function in the Pain and Sympathetic Nervous Systems 69 Introduction to NGF, the First Nerve Growth Factor to Be Found and Studied 72 6 Alternative Pre-mRNA Splicing of Mu Opioid Receptor Gene: Molecular Mechanisms Underlying the Complex Actions of Mu Opioids 79 Ying-Xian Pan Introduction 79 Evolution of OPRM1 Gene 80 OPRM1 Gene: Chromosomal Location and Gene Structure 82 Alternative Promoters 82 Alternative Pre-mRNA Splicing of the OPRM1 Gene 83 Expression and Function of the OPRM1 Splice Variants 90 Conclusion 94 7 Discovering Multilocus Associations with Complex Pain Phenotypes 99 Chia-Ling Kuo, Luda Diatchenko, and Dmitri Zaykin Introduction 99 Approaches Based on Testing Individual Genetic Variants Within a Region 100 Approaches That Combine Association Signals Across Genetic Variants 101 Methods for Testing Joint Effects of Multiple Genetic Variants 102 Multilocus Analysis of Mu Opioid Receptor Haplotypes 103 Two-Stage Multilocus Association Analysis: Collapsing SNPs with Adjustment for Effect Directions 104 Two-Stage Approach: Simulations 107 Two-Stage Approach: Results 108 Discussion 111 Acknowledgments 113 8 Overlapping Phenotypes: Genetic Contribution to Nausea and Pain 115 Charles C. Horn Introduction 115 What is the Functional Role of Nausea and Vomiting? 117 Pain Syndromes with Significant Nausea 118 The Neuropharmacology of Nausea and Emesis 119 Emetic and Antiemetic Action of Opioids 121 Preclinical Studies of Nausea and Vomiting 122 Heritability of Nausea and Vomiting Phenotypes 123 Human Genetic Sequence Variants Associated with Nausea and Vomiting 124 Summary and Future Directions 125 9 A Counterpart to Pain: Itch 131 Adam P. Kardon and Sarah E. Ross Introduction 131 Why Do We Scratch? 132 The Basics of Itch 132 So How is Itch Coded? 133 Measuring Itch in Mice 134 Genetic Models of Itch 135 A Key Role for the Skin in Itch 141 A Shift in the Balance of Pain and Itch 141 Genetic Variation and Itch in Humans – Challenges for the Future 143 Acknowledgments 143 10 Translating Genetic Knowledge into Clinical Practice for Musculoskeletal Pain Conditions 147 Luda Diatchenko, Shad B. Smith, and William Maixner Introduction 147 Results of Human Association Studies 148 Gene Sequencing 150 Development of New Therapeutics 150 Understanding of Interactions 155 In Summary 156 11 The Human Chronic Pain Phenome: Mapping Nongenetic Modifiers of the Heritable Risk 161 Ze’ev Seltzer, Scott R. Diehl, Hance Clarke, and Joel Katz The Current Crisis in Pain Medicine 162 The Importance of Estimating Risk of Chronic Neuropathic Pain (CNP) 162 Modification of the Heritable Risk for CNP 163 The Natural History of CNP 165 Modification of Heritable Risk for CNP In Utero 166 Modifications of the Heritable Risk for CNP Across Generations 167 Postnatal Modifications of the Heritable Risk for CNP 168 Modifications of the Heritable Risk for CNP by Childhood Adverse Experiences 168 Modifications of the Heritable Risk for CNP by Prior Chronic Pain Epochs 169 Modification of the Heritable Risk for CNP by Certain Personality Traits 172 Modification of the Heritable Risk for CNP by Social Factors 172 Modification of the Heritable Risk for CNP by Diet, Medications, Smoking, and Alcohol Intake Consumed Preoperatively 174 Modification of the Heritable Risk for CNP by Climate 175 Modification of the Heritable Risk for CNP by Lifestyle 175 Modifications of the Heritable Risk for Chronic Pain by Other Diseases 176 Modifications of the Heritable Risk for CNP by Nongenetic Factors Occurring Just Prior and During the Inciting Event 176 Summary 177 Appendix: List of Abbreviations 183 Index 185 Color insert found between pages 114 and 115

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Book SynopsisMolecular Neuroendocrinology: From Genome to Physiology, provides researchers and students with a critical examination of the steps being taken to decipher genome complexity in the context of the expression, regulation and physiological functions of genes in neuroendocrine systems. The 19 chapters are divided into four sectors: A) describes and explores the genome, its evolution, expression and the mechanisms that contribute to protein, and hence biological, diversity. B) discusses the mechanisms that enhance peptide and protein diversity beyond what is encoded in the genome through post-translational modification. C) considers the molecular tools that today's neuroendocrinologists can use to study the regulation and function of neuroendocrine genes within the context of the intact organism. D) presents a range of case studies that exemplify the state-of-the-art application of genomic technologies in physiological and behavioural experiments that seek to better understTable of ContentsList of Contributors, vii Series Preface, xi About the Companion Website, xiii Introduction 1 David Murphy and Harold Gainer Part A Genome and Genome Expression 1 Evolutionary Aspects of Physiological Function and Molecular Diversity of the Oxytocin/Vasopressin Signaling System 5 Zita Liutkevicǐūtė and Christian W. Gruber 2 The Neuroendocrine Genome: Neuropeptides and Related Signaling Peptides 25 J. Peter H. Burbach 3 Transcriptome Dynamics 57 David A. Carter, Steven L. Coon, Yoav Gothilf , Charles K. Hwang, Leming Shi, P. Michael Iuvone, Stephen Hartley, James C. Mullikin, Peter Munson, Cong Fu, Samuel J. Clokie, and David C. Klein 4 New Players in the Neuroendocrine System: A Journey Through the Non‐coding RNA World 75 Yongping Wang, Edward A. Mead, Austin P. Thekkumthala, and Andrzej Z. Pietrzykowski 5 Transcription Factors Regulating Neuroendocrine Development, Function, and Oncogenesis 97 Judy M. Coulson and Matthew Concannon 6 Epigenetics 121 Chris Murgatroyd Part B Proteins, Posttranslational Mechanisms, and Receptors 7 Proteome and Peptidome Dynamics 141 Lloyd D. Fricker 8 Neuropeptidomics: The Characterization of Neuropeptides and Hormones in the Nervous and Neuroendocrine Systems 155 Ning Yang, Samuel J. Irving, Elena V. Romanova, Jennifer W. Mitchell, Martha U. Gillette, and Jonathan V. Sweedler 9 Posttranslational Processing of Secretory Proteins 171 Nabil G. Seidah and Johann Guillemot 10 Neuropeptide Receptors 195 Stephen J. Lolait, James A. Roper, Georgina G.J. Hazell, Yunfei Li, Fiona J. Thomson, and Anne‐Marie O’Carroll Part C The Tool Kit 11 Germline Transgenesis 219 Jim Pickel 12 Somatic Transgenesis (Viral Vectors) 243 Valery Grinevich, H. Sophie Knobloch‐Bollmann, Lena C. Roth, Ferdinand Althammer, Andrii Domanskyi, Ilya A. Vinnikov, Marina Eliava, Megan Stanifer, and Steeve Boulant 13 Optogenetics Enables Selective Control of Cellular Electrical Activity 275 Ryuichi Nakajima, Sachiko Tsuda, Jinsook Kim, and George J. Augustine 14 Non‐Mammalian Models for Neurohypophysial Peptides 301 Einav Wircer, Shifra Ben‐Dor, and Gil Levkowitz Part D Case Studies – Integration and Translation 15 Osmoregulation 331 David Murphy, Jose Antunes‐Rodrigues, and Harold Gainer 16 Food Intake, Circuitry, and Energy Metabolism 355 Giles S.H. Yeo 17 Stress Adaptation and the Hypothalamic‐Pituitary‐Adrenal Axis 375 Greti Aguilera 18 Neuroendocrine Control of Female Puberty: Genetic and Epigenetic Regulation 405 Alejandro Lomniczi and Sergio R. Ojeda 19 Oxytocin, Vasopressin, and Diversity in Social Behavior 423 Lanikea B. King and Larry J. Young Glossary 443 Index 459

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Book SynopsisA comprehensive and authoritative compilation of up-to-date developments in stem cell research and its use in toxicology and medicine Presented by internationally recognized investigators in this exciting field of scientific researchProvides an insight into the current trends and future directions of research in this rapidly developing new fieldA valuable and excellent source of authoritative and up-to-date information for researchers, toxicologists, drug industry, risk assessors and regulators in academia, industry and governmentTable of ContentsList of Contributors xx Preface xxvi Acknowledgements xxvii PART I 1 1 Introduction 3 Saura C. Sahu References 4 2 Application of Stem Cells and iPS Cells in Toxicology 5 Maria Virginia Caballero, Ramon A. Espinoza‐Lewis, and Manila Candiracci 2.1 Introduction 5 2.2 Significance 6 2.3 Stem Cell (SC) Classification 7 2.4 Stem Cells and Pharmacotoxicological Screenings 8 2.5 Industrial Utilization Showcases Stem Cell Technology as a Research Tool 8 2.6 Multipotent Stem Cells (Adult Stem Cells) Characteristics and Current Uses 9 2.7 Mesenchymal Stem Cells (Adult Stem Cells) 10 2.8 Hematopoietic Stem Cells (Adult Stem Cells) 11 2.9 Cardiotoxicity 12 2.10 Hepatotoxicity 15 2.11 Epigenetic Profile 17 2.12 Use of SC and iPSC in Drug Safety 18 2.13 Conclusions and Future Applications 19 Acknowledgments 19 References 19 3 Stem Cells: A Potential Source for High Throughput Screening in Toxicology 26 Harish K Handral, Gopu Sriram, and Tong Cao 3.1 Introduction 26 3.2 Stem Cells 27 3.3 High Throughput Screening (HTS) 31 3.4 Need for a Stem Cell Approach in High Throughput Toxicity Studies 37 3.5 Role of Stem Cells in High Throughput Screening for Toxicity Prediction 38 3.6 Conclusion 40 Acknowledgement 41 Disclosure Statement 41 Author’s Contribution 41 References 41 4 Human Pluripotent Stem Cells for Toxicological Screening 50 Lili Du and Dunjin Chen 4.1 Introduction 50 4.2 The Biological Characteristics of hPSCs 51 4.3 Screening of Embryotoxic Effects using hPSCs 52 4.4 The Potential of hPSC‐Derived Neural Lineages in Neurotoxicology 55 4.5 The Potential of hPSC ‐Derived Cardiomyocytes in Cardiotoxicity 60 4.6 The Potential of hPSC‐Derived Hepatocytes in Hepatotoxicity 62 4.7 Future Challenges and Perspectives for Embryotoxicity and Developmental Toxicity Studies using hPSCs 65 Acknowledgments 66 References 67 5 Effects of Culture Conditions on Maturation of Stem Cell‐Derived Cardiomyocytes 71 Deborah K. Hansen, Amy L. Inselman, and Xi Yang 5.1 Introduction 71 5.2 Lengthening Culture Time 75 5.3 Substrate Stiffness 76 5.4 Structured Substrates 78 5.5 Conclusions 82 Disclaimer 82 References 83 6 Human Stem Cell‐Derived Cardiomyocyte In Vitro Models for Cardiotoxicity Screening 85 Tracy Walker, Kate Harris, Evie Maifoshie, and Khuram Chaudhary 6.1 Introduction 85 6.2 Overview of hPSC‐Derived Cardiomyocytes 88 6.3 Human PSC‐CM Models for Cardiotoxicity Investigations 90 6.4 Conclusions and Future Direction 112 References 112 7 Disease‐Specific Stem Cell Models for Toxicological Screenings and Drug Development 122 Matthias Jung, Juliane‐Susanne Jung, Jovita Schiller, and Insa S. Schroeder 7.1 Evidence for Stem Cell‐Based Drug Development and Toxicological Screenings in Psychiatric Diseases, Cardiovascular Diseases and Diabetes 122 7.2 Disease‐Specific Stem Cell Models for Drug Development in Psychiatric Disorders 127 7.3 Stem Cell Models for Cardiotoxicity and Cardiovascular Disorders 132 7.4 Stem Cell Models for Toxicological Screenings of EDCs 133 References 135 8 Three‐Dimensional Culture Systems and Humanized Liver Models Using Hepatic Stem Cells for Enhanced Toxicity Assessment 145 Ran‐Ran Zhang, Yun‐Wen Zheng, and Hideki Taniguchi 8.1 Introduction 145 8.2 Hepatic Cell Lines and Primary Human Hepatocytes 146 8.3 Embryonic Stem Cells and Induced Pluripotent Stem‐Cell Derived Hepatocytes 147 8.4 Ex Vivo: Three‐Dimensional and Multiple‐Cell Culture System 148 8.5 In Vivo: Humanized Liver Models 149 8.6 Summary 150 Acknowledgments 150 References 150 9 Utilization of In Vitro Neurotoxicity Models in Pre‐Clinical Toxicity Assessment 155 Karin Staflin, Dinah Misner, and Donna Dambach 9.1 Introduction 155 9.2 Current Models of Drug‐Related Clinical Neuropathies and Effects on Electrophysiological Function 159 9.3 Cell Types that Can Potentially Be Used for In Vitro Neurotoxicity Assessment in Drug Development 162 9.4 Utility of iPSC Derived Neurons in In Vitro Safety Assessment 167 9.5 Summary of Key Points for Consideration in Neurotoxicity Assay Development 170 9.6 Concluding Remarks 172 References 172 10 A Human Stem Cell Model for Creating Placental Syncytiotrophoblast, the Major Cellular Barrier that Limits Fetal Exposure to Xenobiotics 179 R. Michael Roberts, Shinichiro Yabe, Ying Yang, and Toshihiko Ezashi 10.1 Introduction 179 10.2 General Features of Placental Structure 180 10.3 The Human Placenta 180 10.4 Human Placental Cells in Toxicology Research 182 10.5 Placental Trophoblast Derived from hESC 183 10.6 Isolation of Syncytial Areas from BAP‐Treated H1 ESC Colonies 185 10.7 Developmental Regulation of Genes Encoding Proteins Potentially Involved in Metabolism of Xenobiotics 185 10.8 Concluding Remarks 191 Acknowledgments 192 References 192 11 The Effects of Endocrine Disruptors on Mesenchymal Stem Cells 196 Marjorie E. Bateman, Amy L. Strong, John McLachlan, Matthew E. Burow, and Bruce A. Bunnell 11.1 Mesenchymal Stem Cells 196 11.2 Endocrine Disruptors 198 11.3 Pesticides 201 11.4 Alkyl Phenols and Derivatives 206 11.5 Bisphenol A 211 11.6 Polychlorinated Biphenyls 216 11.7 Phthalates 221 11.8 Areas for Future Research 225 11.9 Conclusions 226 Abbreviations 226 References 228 12 Epigenetic Landscape in Embryonic Stem Cells 238 Xiaonan Sun, Nicholas Spellmon, Joshua Holcomb, Wen Xue, Chunying Li, and Zhe Yang 12.1 Introduction 238 12.2 DNA Methylation in ESCs 239 12.3 Histone Methylation in ESCs 240 12.4 Chromatin Remodeling and ESCs Regulation 241 12.5 Concluding Remarks 242 Acknowledgements 243 References 243 PART II 247 13 The Effect of Human Pluripotent Stem Cell Platforms on Preclinical Drug Development 249 Kevin G. Chen 13.1 Introduction 249 13.2 Core Signaling Pathways Underlying hPSC Stemness and Differentiation 250 13.3 Basic Components of In Vitro and Ex Vivo hPSC Platforms 251 13.4 Diverse hPSC Culture Platforms for Drug Discovery 252 13.5 Representative Analyses of hPSC‐Based Drug Discovery 255 13.6 Current Challenges and Future Considerations 257 13.7 Concluding Remarks 260 Acknowledgments 260 References 260 14 Generation and Application of 3D Culture Systems in Human Drug Discovery and Medicine 265 H. Rashidi and D.C. Hay 14.1 Introduction 265 14.2 Traditional Scaffold‐Based Tissue Engineering 266 14.3 Scaffold‐Free 3D Culture Systems 269 14.4 Modular Biofabrication 270 14.5 3D Bioprinting 270 14.6 Tissue Modelling and Regenerative Medicine Applications of Pluripotent Stem Cells 272 14.7 Applications in Drug Discovery and Toxicity 275 14.8 Conclusions 278 References 278 15 Characterization and Therapeutic Uses of Adult Mesenchymal Stem Cells 288 Juliann G. Kiang 15.1 Introduction 288 15.2 MSC Characterization 289 15.3 MSCs and Tissue or Organ Therapy 293 15.4 Conclusions 298 Acknowledgments 298 References 298 16 Stem Cell Therapeutics for Cardiovascular Diseases 303 Yuning Hou, Xiaoqing Guan, Shukkur M. Farooq, Xiaonan Sun, Peijun Wang, Zhe Yang, and Chunying Li 16.1 Introduction 303 16.2 Types of Stem/Progenitor Cell‐Derived Endothelial Cells 304 16.3 EPC and Other Stem/Progenitor Cell Therapy in CVDs 306 16.4 Strategies and Approaches for Enhancing EPC Therapy in CVDs 306 16.5 Concluding Remarks 315 Acknowledgments 316 References 316 17 Stem‐Cell‐Based Therapies for Vascular Regeneration in Peripheral Artery Diseases 324 David M Smadja and Jean‐Sébastien Silvestre 17.1 Sources of Stem Cells for Vascular Regeneration 325 17.2 Canonic Mechanisms Governing Vascular Stem Cells Therapeutic Potential 329 17.3 Stem‐Cell‐Based Therapies in Patients with Peripheral Artery Disease 333 References 337 18 Gene Modified Stem/Progenitor‐Cell Therapy for Ischemic Stroke 347 Yaning Li, Guo‐Yuan Yang, and Yongting Wang 18.1 Introduction 347 18.2 Gene Modified Stem Cells for Ischemic Stroke 348 18.3 Gene Transfer Vectors 354 18.4 Unsolved Issues for Gene‐Modified Stem Cells in Ischemic Stroke 356 18.5 Conclusion 356 Abbreviations 356 Acknowledgments 357 References 357 19 Role of Stem Cells in the Gastrointestinal Tract and in the Development of Cancer 363 Pengyu Huang, Bin Li, and Yun‐Wen Zheng 19.1 Introduction 363 19.2 GI Development and Regeneration 365 19.3 GI Tumorigenesis and Stemness Gene Expression 367 19.4 Toxicants and Other Stress Trigger Epigenetic Changes, Dedifferentiation, and Carcinogenesis 368 19.5 Summary and Perspective 369 Acknowledgments 369 References 370 20 Cancer Stem Cells: Concept, Significance, and Management 375 Haseeb Zubair, Shafquat Azim, Sanjeev K. Srivastava, Arun Bhardwaj, Saravanakumar Marimuthu, Mary C. Patton, Seema Singh, and Ajay P. Singh 20.1 Introduction 375 20.2 Stem Cells and Cancer: Historical Perspective 376 20.3 Cancer Stem Cells 377 20.4 Identification and Isolation of CSCs 382 20.5 Pathological Significance of Cancer Stem Cells 388 20.6 Pathways Regulating Cancer Stem Cells 389 20.7 Therapeutic Strategies Targeting Cancer Stem Cells 394 20.8 Conclusion and Future Directions 399 References 400 21 Stem Cell Signaling in the Heterogeneous Development of Medulloblastoma 414 Joanna Triscott and Sandra E. Dunn 21.1 Brain Tumor Cancer Stem Cells 414 21.2 Medulloblastoma 416 21.3 Hijacking Cerebellar Development 417 21.4 Molecular Classification of MB 420 21.5 Mouse Models and Cell of Origin 424 21.6 Additional Drivers of MB 425 21.7 Repurposing Off‐Patent Drugs 426 21.8 Emerging Therapies for MB 428 21.9 Conclusion 429 Acknowledgments 429 References 429 22 Induced Pluripotent Stem Cell‐Derived Outer-Blood‐Retinal Barrier for Disease Modeling and Drug Discovery 436 Jun Jeon, Nathan Hotaling, and Kapil Bharti 22.1 Introduction 436 22.2 The Outer Blood‐Retinal Barrier 437 22.3 iPSC‐Based Model of the Outer-Blood‐Retinal-Barrier 439 22.4 iPSC Based OBRB Disease Models 442 22.5 Applications of iPSC‐Based Ocular Disease Models for Drug Discovery 448 22.6 Conclusion and Future Directions 451 References 451 23 Important Considerations in the Therapeutic Application of Stem Cells in Bone Healing and Regeneration 458 Hoda Elkhenany, Shawn Bourdo, Alexandru Biris, David Anderson, and Madhu Dhar 23.1 Introduction 458 23.2 Stem Cells, Progenitor Cells, Mesenchymal Stem Cells 459 23.3 Scaffolds 461 23.4 Animal Models in Bone Healing and Regeneration 464 23.5 Conclusions and Future Directions 472 References 472 24 Stem Cells from Human Dental Tissue for Regenerative Medicine 481 Junjun Liu and Shangfeng Liu 24.1 Introduction 481 24.2 Dental Stem Cells 482 24.3 Potential Clinical Applications 488 24.4 Safety 492 24.5 Dental Stem Cell Banking 493 24.6 Conclusions and Perspective 494 References 495 25 Stem Cells in the Skin 502 Hongwei Wang, Zhonglan Su, Shiyu Song, Ting Su, Mengyuan Niu, Yaqi Sun, and Hui Xu 25.1 Introduction 502 25.2 Stem Cells in the Skin 503 25.3 Isolation and the Biological Markers of Skin Stem Cells 506 25.4 Skin Stem Cell Niches 508 25.5 Signaling Control of Stem Cell Differentiation 510 25.6 Stem Cells in Skin Aging 514 25.7 Stem Cells in Skin Cancer 516 25.8 Medical Applications of Skin Stem Cells 518 25.9 Conclusions and Future Directions 520 References 521 Author Index 527 Subject Index 529

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Book SynopsisWith its unique combination of the latest research, expert advice, and compelling personal stories, this book gives previvors, survivors, and their family members the guidance they need to face the unique challenges of hereditary cancer.Trade ReviewA fine resource discussing the challenges of living in a high-risk body. Midwest Book Review An insightful and informative read. Nursing Times A top pick for any breast cancer collection. Midwest Book Review This book is an excellent resource for lay people trying to understand and deal with inherited breast and ovarian cancer. -- Judith Offman Journal of Family Planning and Reproductive HealthcareTable of ContentsForeword by Mark H. Greene, M.D.AcknowledgmentsIntroductionPart I: Understanding Cancer, Genetics, and Risk1. Breast and Ovarian Cancer BasicsMost Cancers Aren't HereditaryAn Introduction to Breast CancerAn Introduction to Ovarian CancerOther Hereditary Cancers2. A Peek Inside: Your Genes at WorkThe Evolution of Genetic Discovery: From Peas to BRCAYour Genetic ABCs . . . and a DMutations: Spelling Errors in Your DNA CookbookHow Mutations Lead to CancerWhat's So Special about BRCA?3. Defining RiskMaking Sense of StatisticsGetting Personal: Factors That Modify Your RiskIt's a Numbers Game4. Hereditary Cancer: What's Swimming in Your Gene Pool?Mutations from Mom or DadHidden Risk in the Family TreeHBOC and Other Hereditary Cancer SyndromesPlotting Your Genetic PedigreePart II: Assessing Your Risk5. Genetic CounselingThe Value of CounselingWhat to Expect from the ProcessWhy You Need an Expert to Unravel Your Genetic HistoryDeciding Who Should Test First6. Genetic Testing: Facing Your Hereditary HoroscopeWhich Test Is Right for You?Powerful, Yet ImperfectIssues for Survivors and Women in Treatment7. Decoding Your Test ResultsLife, Interrupted: It's PositiveGood News! You're a True NegativeWhen No Might Mean MaybeGenetic VariantsNow What? Implications for You and Your FamilyPart III: Managing Your Risk: Your DNA Doesn't Have to Be Your Destiny8. Early Detection StrategiesHigh-Risk Surveillance for Breast CancerHigh-Risk Surveillance for Ovarian CancerIs It Cancer?Screening for Other Hereditary Cancers9. ChemopreventionRisk-Reducing Medications for Breast CancerAlternatives under StudyChemoprevention for Ovarian Cancer10. Mastectomy for Risk Reduction and TreatmentReducing Cancer Risk by Removing the BreastsSkin-Sparing ProceduresTreating Breast Cancer with MastectomyWho Should Perform Your Surgery?Risks and Recovery11. Reconstruction: New Breasts after MastectomyDelaying Reconstruction to Complete Breast Cancer TreatmentLiving with a Flat ChestSaline and Silicone ImplantsOptions for Using Your Own TissueOptional Last Steps: Adding Nipples and AreolasGreat Expectations: Surgery and RecoveryChoosing the Right Surgeon12. Oophorectomy and Other Risk-Reducing Gynecologic SurgeriesOophorectomy ProceduresShould You Have a Hysterectomy Too?Oophorectomy, Mastectomy: Either, Neither, or Both?Issues for Breast Cancer Survivors13. Dealing with Menopause and Quality-of-Life IssuesSymptoms of Surgical MenopauseLong-Term Side EffectsShould You Take Hormones?Issues for Breast Cancer SurvivorsPart IV: Living with BRCA: Issues and Answers14. Managing Lifestyle ChoicesThe Three-Legged Stool: Nutrition, Weight, and Physical ActivityAlcohol: An Unwise ChoiceOther Lifestyle Risk Factors15. Sharing Information with Friends, Family, and CoworkersSharing Risk and Genetic Testing Information with FamilyIssues for Spouses, Partners, and People You DateWhat Should You Tell Employers and Coworkers?16. Young and at High RiskShould You Consider Testing Now?Diagnostic DifficultiesDealing with a Diagnosis before MenopausePlanning Your Family, Preserving Your FertilityOophorectomy in Young WomenSorting through Emotions17. How BRCA Affects MenMen Get Breast Cancer TooHigh Risk for Prostate CancerOther BRCA-Related Cancers18. Diagnosis: Hereditary CancerHow Important Is a Second Opinion?Treating Hereditary CancersMaking Breast Cancer Treatment DecisionsOvarian Cancer IssuesThe Importance of Clinical Trials19. Putting the Pieces Together to Make Difficult DecisionsStart at the Beginning: Should You Be Tested?Making Decisions to Reduce Your RiskMaking Decisions about TreatmentFrom Confused to Clear in Fifteen StepsNotesIndex

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Book SynopsisShares experiences of living with genetic disorders. This title includes stories that illustrate the complexities involved in making decisions about genetic diseases: whether to be tested, who to tell, whether to have children, and whether and how to treat children medically, if treatment is available.Trade ReviewA compelling collection of essays that address the experiences of many who have genetically based illnesses... These pieces can comfort those in similar situations; inform friends, relatives, and caregivers; enlighten health providers; and help us all better understand how others experience the world in which we live. VERDICT Recommended for those who are touched by genetic disorders or are interested in health in the modern world. Library Journal If there were an All-Star Team for memoirists struggling with genetic misfortune... The Story Within would surely be it. -- Patrick Tracey PsychCentral Thought provoking, moving and extremely interesting. -- Jane Brown Nursing Times For those who have traveled a similar path and who have faced genetic illnesses, these stories can be a source of comfort. These stories can also help inform and educate and generate much needed dialogue about health and body norms. The narratives in The Story Within are a reminder that every life has value. -- Dena Hurst Metapsychology The Story Within is a true success of a collection. With joy, rigor, and respect, it strvies to reconcile something like the original (one-of-a-kind) and the originator (universal), the literal (DNA) and the literary (collected essays). Original review below -- Adrien Guignard Gesnerus The Story Within est un collectif reussi. Il s'efforce avec bonheur, rigueur et respect de concilier quelque chose comme l'orignal (singulier) et l'originaire (universel), le litteral (de l'ADN) et le litteraire (des textes reunis). -- Adrien Guignard Gesnerus When medical students really feel that they understand genetics... let them read The Story Within and be brought down to earth with a bang. I know I was. BioNewsTable of ContentsAcknowledgmentsIntroductionPart I: Finding Out: Genetics and Ideas of SelfChapter 1. UndiagnosedChapter 2. Driving NorthChapter 3. Collateral DamageChapter 4. In SamarraChapter 5. The UnnumberedPart II: Intervening: Living with Genetic DifferenceChapter 6. Of Helices, HIPAA, Hairballs . . . and HumansChapter 7. The Power of Two: Two Sisters, Two Genes, and Two New Chances at LifeChapter 8. Permission to Look: Documenting the BRCA MutationChapter 9. "Why Would You Be Wantin' to Know?" Not Talking about Schizophrenia in IrelandChapter 10. Help WantedChapter 11. Community and Other Ordinary MiraclesPart III: Passing Down: Genetics and FamilyChapter 12. String Theory, or How One Family Listens Through DeafnessChapter 13. What IfChapter 14. The Long ArmChapter 15. Lettuce and ShoesChapter 16. Dear Dr. Frankenstein: Creation Up CloseEpilogueNotesList of ContributorsIndex

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Book SynopsisThe questions it raises touch on ongoing controversies about newborn screening and what happens to blood samples collected at birth.Trade ReviewPaul and Brosco are to be congratulated on producing an extremely worthwhile, interesting and very readable book. I highly recommend it to geneticists, bioethicists, to those directly or indirectly involved in newborn screening, and to all others who wish to understand the basis for the current enthusiasm about the role of genetics and genetic screening in health and the prevention of disease. -- Harvey L. Levy Journal of Medical Genetics The PKU Paradox will be essential reading for anyone interested in the sociocultural, ethical and historical aspects of PKU and newborn screening more generally. -- Mara Buchbinder Social History of Medicine This book is a fascinating biography of this syndrome... enriched by illustrations from public health campaigns, advertising material for PKU-friendly supplements, and interviews with people who have lived with PKU and who have given first-hand accounts of their lived experience... The PKU Paradox is a useful and provoking addition to the Biographies of Disease series. -- Philippa Martyr Health and History The ability to illustrate a wide range of historical themes through a single, compelling case will make The PKU Paradox particularly useful for undergraduate teaching, as will the short, concisely written chapters. It is not an easy task to clearly portray the history of a subject as complex and elusive as disease, and Paul and Brosco have done an admirable job in this regard. The PKU Paradox will be essential reading for anyone interested in the sociocultural, ethical and historical aspects of PKU and newborn screening more generally. -- Mara Buchbinder Social History of Medicine Paul and Brosco are to be commended for reminding us all how central the PKU story has been to the development of genetics and medicine, the connection of genotype to phenotype to society, and to the way this society views people with intellectual disabilities. This is a book that should be read by all geneticists and physicians and people with an interest and concern about individuals for with intellectual impairments. -- John B. Jenkins Quarterly Review of Biology The PKU Paradox is a clearly and engagingly written book that provides an excellent introduction to the history of a disease and its broader implications in twentieth-century biomedicine. -- Soraya De Chadarevian Isis This is a deeply researched and most readable history of PKU from its discovery in 1930... up to the success story of the present day. -- Neil R. M. Buist Journal of Inherited Metabolic Disease Significant book for readers interested in understanding the many factors and intricacies involved in the history of diseases, in particular genetic diseases... Provides a compelling argument against the simplistic and persistent view that genetic diseases are fixed in the lab. Instead, it proposes a complex contextual history, not only a more persuasive one, but also one that provides a model for comprehensive study of other diseases, genetic or not. British Journal for the History of Science Paul and Brosco enable the reader to shift their gaze from PKU the paradigm to PKU the disease, in all its historical and biological complexity. For this reason, this book will be of interest to historians and practitioners of medicine alike. Moreover, it also serves as an excellent example of the constructive possibilities inherent in a collaboration between historians and physicians, and indeed, of the value of such an approach. University of Toronto Medical JournalTable of ContentsForeword, by Charles E. RosenbergPrefaceList of AbbreviationsIntroduction: Pearl Buck, PKU, and Mental Retardation1. The Discovery of PKU as a Metabolic Disorder2. PKU as a Form of Cognitive Impairment3. Testing and Treating Newborns, 1950–19624. The Campaign for Mandatory Testing5. Sources of Skepticism6. New Paradigms for PKU7. Living with PKU8. The Perplexing Problem of Maternal PKU9. Who Should Procreate? Perspectives on Reproductive Choice and Responsibility in Postwar America10. Newborn Screening ExpandsEpilogue: "The Government Has Your Baby's DNA": Contesting the Storage and Secondary Use of Residual Dried Blood SpotsAcknowledgmentsA Note on SourcesNotesIndex

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Book SynopsisThe first of two, this volume comprises a collection of papers devoted to the understanding of thymosins—proteins originally isolated from the thymus and possess a unique array of biological properties. Thymosins in Health and Disease I brings together short reviews organized to explore the basic characteristics of these peptides and their hormone-like properties, recent preliminary evidence for their medicinal utility, and a focus on the alpha and beta thymosin families. In particular, Thymosin β4 (Tβ4) holds considerable promise for the treatment of many conditions and diseases. Of note, contributions to this volume include information on the application of thymosins to stem cell differentiation, neurological and cardiovascular regeneration, as well as accounts of thymosins in relation to basic regulatory and cancer cell functions. NOTE: Annals volumes are available for sale as individual books or as a journal. For more information on institutional journal subscriptions, please visit: http://ordering.onlinelibrary.wiley.com/subs.asp?ref=1749-6632&doi=10.111/(ISSN)1749-6632 ACADEMY MEMBERS: Please contact the New York Academy of Sciences directly to place your order (www.nyas.org). Members of the New York Academy of Science receive full-text access to Annals online and discounts on print volumes. Please visit http://www.nyas.org/MemberCenter/Join.aspx for more information on becoming a member.Table of ContentsIntroduction for Thymosins in Health and Disease vii Allan L. Goldstein and Enrico Garaci Thymosins: chemistry, genetics, receptors, signaling, and multifunctionality Jack of all trades: thymosin α1 and its pleiotropy 1 Luigina Romani, Silvia Moretti, Francesca Fallarino, Silvia Bozza, Loredana Ruggeri, Andrea Casagrande, Franco Aversa, Francesco Bistoni, Andrea Velardi, and Enrico Garaci Single-domain β-thymosins: the family history 7 John Edwards Controlled delivery of thymosin β4 for tissue engineering and cardiac regenerative medicine 16 Loraine L. Y. Chiu, Lewis A. Reis, and Milica Radisic Thymosin α1 and cancer: action on immune effector and tumor target cells 26 Enrico Garaci, Francesca Pica, Annalucia Serafino, Emanuela Balestrieri, Claudia Matteucci, Gabriella Moroni, Roberta Sorrentino, Manuela Zonfrillo, Pasquale Pierimarchi, and Paola Sinibaldi-Vallebona Prothymosin α plays multifunctional cell robustness roles in genomic, epigenetic, and nongenomic mechanisms 34 Hiroshi Ueda, Hayato Matsunaga, and Sebok Kumar Halder Thymosin β4 is rapidly internalized by cells and does not induce intracellular Ca²⁺ elevation 44 Czeslaw S. Cierniewski, Katarzyna Sobierajska, Anna Selmi, Jakub Kryczka, and Radoslaw Bednarek Thymosins: molecular markers, wound healing, fibrosis, inflammation, and hypoxia Thymosin β4 expression reveals intriguing similarities between fetal and cancer cells 53 Carvino Faa, Sonia Nemolato, Tiziana Cabras, Daniela Fanni, Clara Gerosa, Mattia Fanari, Annalisa Locci, Vassilios Fanos, Irene Messana, and Massimo Castagnola Protective effects of thymosin β4 on carbon tetrachloride-induced acute hepatotoxicity in rats 61 Karina Reyes-Gordillo, Ruchi Shah, Jaime Arellanes-Robledo, Marcos Rojkind, and M. Raj Lakshman Protective effects of thymosin β4 in a mouse model of lung fibrosis 69 Enrico Conte, Tiziana Genovese, Elisa Gili, Emanuela Esposito, Maria Iemmolo, Mary Fruciano, Evelina Fagone, Maria Provvidenza Pistorio, Nunzio Crimi, Salvatore Cuzzocrea, and Carlo Vancheri Thymosin β4 affecting the cytoskeleton organization of the myofibroblasts 74 H. Paul Ehrlich and Sprague W. Hazard Thymosin β4 stabilizes hypoxia-inducible factor-1α protein in an oxygen-independent manner 79 Mee Sun Ock, Kyoung Seob Song, Hynda Kleinman, and Hee-Jae Cha Thymosin β4: cardiovascular protection, neuroplasticity and regeneration, and stem cell differentiation Thymosin β4 and cardiac protection: implication in inflammation and fibrosis 84 Sudhiranjan Gupta, Sandeep Kumar, Nikolai Sopko, Yilu Qin, Chuanyu Wei, and Il-Kwon Kim Myocardial regeneration: expanding the repertoire of thymosin β4 in the ischemic heart 92 Nicola Smart, Sveva Bollini, Karina D. Dubé, Joaquim M. Vieira, Bin Zhou, Johannes Riegler, Anthony N. Price, Mark F. Lythgoe, Sean Davidson, Derek Yellon, William T. Pu, and Paul R. Riley Molecular and cellular mechanisms of thymosin β4-mediated cardioprotection 102 Rabea Hinkel, Teresa Trenkwalder, and Christian Kupatt Treatment of neurological injury with thymosin β4 110 Daniel C. Morris, Zheng G. Zhang, Jing Zhang, Ye Xiong, Li Zhang, and Michael Chopp Therapeutic potential of thymosin β4 in myocardial infarct and hear failure 117 Christoffer Stark, Pekka Taimen, Miikka Tarkia, Jussi Pärkkä, Antti Saraste, Tero-Pekka Alastalo, Timo Savunen, and Juha Koskenvuo Thymosin β4 mobilizes mesothelial cells for blood vessel repair 125 Elaine L. Shelton and David M. Bader Appendix: Historical article reprinted from Annals of the New York Academy of Sciences 332: 33-48 (1979) Current status of thymosin research: Evidence for the existence of a family of thymic factors that control T-cell maturation 131 Teresa L. K. Low, Gary B. Thurman, Carolina Chincarini, John E. McClure, Gailen D. Marshalll, Shu-Kuang Hu, and Allan L. Goldstein

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Book SynopsisThe second of two volumes, Thymosins in Health and Disease II, continues the exploration of the rapidly expanding area of research in thymosins—a family of proteins, with a broad set of biological properties and great clinical potential. In this volume, papers detail the important therapeutic implications of two thymosins: Thymosin α1 (Tα1) in relation to immunity, infectious diseases, and cancer, and the clinical and preclinical applications of Thymosin (Tβ4) in cardiovascular regeneration and wound healing. In addition, this volume covers some of the most current topics in thymosin research, including nuclear magnetic resonance imaging structural studies of thymosins, thymosin labeling, antibodies in thymosin research, and new methods for thymosin delivery. NOTE: Annals volumes are available for sale as individual books or as a journal. For more information on institutional journal subscriptions, please visit: http://ordering.onlinelibrary.wiley.com/subs.asp?ref=1749-6632&doi=10.111/(ISSN)1749-6632 ACADEMY MEMBERS: Please contact the New York Academy of Sciences directly to place your order (www.nyas.org). Members of the New York Academy of Science receive full-text access to Annals online and discounts on print volumes. Please visit http://www.nyas.org/MemberCenter/Join.aspx for more information on becoming a member.Table of ContentsIntroduction for Thymosins in Health and Disease vii Allan I. Goldstein and Enrico Garaci Thymosin α1: immunomodulation, immunopharmacology, infectious diseases, and cancers Thymosin α1: a novel therapeutic option for patients with refractory chronic purulent rhinosinusitis 1 Virgil A. S. H. Dalm, Harm de Wit and Hemmo A. Drexhage Thymosin α1: in melanoma: from the clinical trial setting to the daily practice and beyond 8 Riccardo Danielli, Ester Fonsatti, Luana Calabrò, Anna Maria Di Giacomo and Michele Maio Thymosin α1 as a stimulatory agent of innate cell-mediated immune response 13 Annalucia Serafino, Pasquale Pierimarchi, Francesca Pica, Federica Andreola, Roberta Gaziano, Noemi Moroni, Manuela Zonfrillo, Paola Sinibaldi-Vallebona and Enrico Garaci Thymosin α1 continues to show promise as an enhancer for vaccine response 21 Cynthia Tuthill, Israel Rios, Alfonso De Rosa and Roberto Camerini Clinical and preclinical applications of thymosin β4: wound healing, eye injuries, cardiovascular diseases, and neurological injuries The use of angiogenic-antimicrobial agents in experimental wounds in animals: problems and solutions 28 Paritosh Suman, Harikrishman Ramachandran, Sossy Sahakian, Kamraan Z. Gill, Basil A. J. Horst, Shanta M. Modak and Mark A. Hardy The regenerative peptide thymosin β4 accelerates the rate of dermal healing in preclinical animal models and in patients 37 Terry Treadwell, Hynda K. Kleinman, David Crockford, Mark A. Hardy, Georgio T. Guarnera and Allan L. Goldstein Thymosin β4: a potential novel dry eye therapy 45 Gabriel Sosne, Ping Qiu, George W. Ousler 3rd, Steven P. Dunn and David Crockford Neuroprotective and neurorestorative effects of thymosin β4 treatment following experimental traumatic brain injury 51 Ye Xiong, Asim Mahmood, Yuling Meng, Yanlu Zhang, Zheng Gang Zhang, Daniel C. Morris and Michael Chopp Use of the cardioprotectants thymosin β4 and dexrazoxane during congenial heart surgery: proposal for a randomized, double-blind, clinical trial 59 Daniel Stromberg, Tia Raymond, David Samuel, David Crockford, William Stigall, Steven Leonard, Eric Mendeloff and Andrew Gormley Cardiac repair with thymosin β4 and cardiac reprogramming factors 66 Deepak Srivastava, Masaki Ieda, Jidong Fu and Li Qian Late breaking paper session NMR structural studies of thymosin α1 and β-thymosins 73 David E. Volk, Cynthia W. Tuthill, Miguel-Angel Elizondo-Riojas and David G. Gorenstein Fragments of β-thymosin from the sea urchin Paracentrotus lividus as potential antimicrobial peptides against staphylococcal biofilms 79 Domenico Schillaci, Maria Vitale, Maria Grazia Cusimano and Vincenzo Arizza Development of an analytical HPLC methodology to study the effects of thymosin β4 on actin in sputum of cystic fibrosis patients 86 Mahnaz Badamchain, Ali A. Damavandy and Allan L. Goldstein The role of biologically active peptides in tissue repair using umbilical cord mesenchymal stem cells 93 Carlos Cabrera, Gabriela Carriquiry, Chiara Pierinelli, Nancy Reinoso, Javier Arias-Stella and Javier Paino Identification on interaction partners of β-thymosins: applications of thymosin β4 labeled by transglutaminase 98 Christine App, Jana Knop, Hans Georg Mannherz and Ewald Hannappel Antibodies in research of thymosin β4: investigation of cross-reactivity and influence of fixatives 105 Jana Knop, Christine App and Ewald Hannappel Thymosin β4 sustained release from poly(lactide-co-glycolide) microspheres: synthesis and implications for treatment of myocardial ischemia 112 Jeffrey E. Thatcher, Tré Welch, Robert C. Eberhart, Zoltan A. Schelly and J. Michael DiMaio

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Book SynopsisCreation and Complexity are two themes that draw the sciences and theology together. The remarkable advances of science in the modern period have opened up new knowledge and revealed ever deepening layers of complexity in the world from the cosmic macro level to the micro world of quantum. There seems no end to the rich tapestry of the cosmic order and process. A science of complexity has been spawned. The discoveries of the sciences have been matched in the twentieth century by a renewal in the doctrine of creation. Behind this lies a renaissance in trinitarian thinking which offers fresh insight into the dynamic of God in creation - past, present and future. The complexity of the triune God in creation find echoes in the rich complexity of the world uncovered by the contemporary sciences.

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