This volume focuses on the roles of long non-coding RNAs (lncRNAs) in contexts ranging from human cancers to cardiovascular disease and ageing. The role of lncRNAs in X-inactivation and those lncRNAs derived from pseudogenes, past retroelements integrated within the human genome, as well as the role these pseudogene-derived lncRNAs play in cancer development are discussed in detail. Further, the book examines the function of lncRNAs in diseases such as diabetes, in smooth muscle formation, and in the modulation of nuclear receptors, as well as in connection with perspectives on the development of personalized therapeutics. It offers an appealing and insightful resource for scientists and clinicians alike.

The Indian subcontinent is a vast land mass inhabited by over one billion people. Its rich and varied history is reflected by its numerous racial and ethnic groups and its distinct religious, cultural and social characteristics. Like many developing countries in Asia, it is passing through both demographic and epidemiological transitions whereby, at least in some parts, the diseases of severe poverty are being replaced by those of Westemisation; obesity, diabetes, and heart disease, for example. Indeed, as we move into the new millennium India has become a land of opposites; on the one hand there is still extensive poverty yet, on the other hand, some of the most remarkable developments in commerce and technology in Asia are taking place, notably in the fields of information technology and biotechnology. India has always fascinated human geneticists and a considerable amount of work has been done towards tracing the origins of its different ethnic groups. In the current excitement generated by the human genome project and the molecular and genetic approach to the study of human disease, there is little doubt that this field will develop and flourish in India in the future. Although so far there are limited data about genetic diseases in India, enough is known already to suggest that this will be an extremely fruitful area of research.

The existence of genes for RNA molecules not coding for proteins (ncRNAs) has been recognized since the 1950's, but until recently, aside from the critically important ribosomal and transfer RNA genes, most focus has been on protein coding genes. However, a long series of striking discoveries, from RNA's ability to carry out catalytic function, to discovery of riboswitches, microRNAs and other ribo-regulators performing critical tasks in essentially all living organisms, has created a burgeoning interest in this primordial component of the biosphere. However, the structural characteristics and evolutionary constraints on RNA molecules are very different from those of proteins, necessitating development of a completely new suite of informatic tools to address these challenges. In RNA Sequence, Structure, Function: Computational and Bioinformatic Methods, expert researchers in the field describe a substantial and relevant fraction of these methodologies from both practical and computational/algorithmic perspectives. Focusing on both of these directions addresses both the biologist interested in knowing more about RNA bioinformatics as well as the bioinformaticist interested in more detailed aspects of the algorithms. Written in the highly successful Methods in Molecular Biology series format, the chapters include the kind of detailed description and implementation advice that is crucial for getting optimal results. Thorough and intuitive, RNA Sequence, Structure, Function: Computational and Bioinformatic Methods aids scientists in continuing to study key methods and principles of RNA bioinformatics.

"Molecular Beacons" explains working principle of molecular beacons, discusses their design, synthesis, purification and characterization, explores their thermodynamic and kinetic properties, and more importantly, reviews their in vivo and in vitro applications with the emphasis on the design and modification of molecular beacons for in vivo mRNA imaging applications.

This book is designed to bring together in a single resource an organized and comprehensive view of molecular beacons and will be a valuable resource for academic, clinical and industrial scientists and graduate students who may consider exploring molecular beacons in their research or practice.

Chaoyong James Yang is the Lu Jiaxi Professor of Chemistry at Xiamen University, China.

Weihong Tan is a Distinguished Professor of Chemistry and Biomedical Engineering at Hunan University, China and also a University of Florida Distinguished Professor and V. T. and Louis Jackson Professor of Chemistry at the University of Florida, USA.

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Primary Aldosteronism (PA) is a disease caused by the overproduction of aldosterone hormone from the adrenal glands. PA causes hypertension and the majority with this disease are undiagnosed for PA. There are new insights into this matter by using biochemistry as well as advanced radiology. In 2011, a breakthrough in the genetic derangements came, identifying a mutated potassium channel gene - KCNJ5 - in about 40% of PA with adenoma. Chapters in this book include a history of the disorder, epidemiology, genetics derangements, the KCNJ5 mutations and phenotype and more.

As a dynamic, interdisciplinary field, behavior genetics and its evolution are being followed closely by scientists across the psychological and medical domains. The discoveries surrounding the human genome and the advancement in molecular genetic technologies have led to studies becoming increasingly sophisticated and yielding yet more conclusive and useful results. This is certainly the case in the area of child and adult psychopathology. Behavior Genetics of Psychopathology summarizes the state of the field, examining the role of genes and environment as they affect common neurodevelopmental and psychiatric conditions. Emphasizing key research areas (comorbidities, twin studies, the integration of methods), the book assesses the current literature, offers up-to-date findings, sorts through lingering controversies, and identifies a clear future agenda for the field. Expertly-written chapters focus on issues of both general salience that shape behavior genetics of psychopathology, to specific disorders of major clinical importance, among them: ADHD: the view from quantitative genetic research. Autism spectrum disorders and their complex heterogeneity Genetic influences on anxiety and depression in childhood and adolescence. Evidence for etiologically-defined subgroups within the construct of antisocial behavior. Sleep and psychopathology: the reasons for their co-occurrence. Behavioral genetic approaches to the etiology of comorbidity. Epigenetics of psychopathology. This combination of timeliness and depth of coverage make Behavior Genetics of Psychopathology a frontline resource for behavior geneticists, psychologists, psychiatrists, and neuroscientists, and is perfectly suited to graduate students looking to join these fields.

This book will contain the proceedings of the XV International Symposium on Retinal Degeneration (RD2012). A majority of those who will speak and present posters at the meeting will contribute to this volume. The blinding diseases of inherited retinal degenerations have no treatments, and age-related macular degeneration has no cures, despite the fact that it is an epidemic among the elderly, with 1 in 3-4 affected by the age of 70. The RD Symposium will focus on the exciting new developments aimed at understanding these diseases and providing therapies for them. Since most major scientists in the field of retinal degenerations attend the biennial RD Symposia, they are known by most as the "best" and "most important" meetings in the field. The volume will present representative state-of-the-art research in almost all areas of retinal degenerations, ranging from cytopathologic, physiologic, diagnostic and clinical aspects; animal models; mechanisms of cell death; candidate genes, cloning, mapping and other aspects of molecular genetics; and developing potential therapeutic measures such as gene therapy and neuroprotective agents for potential pharmaceutical therapy. While advances in these areas of retinal degenerations will be described, there will be many new topics that either were in their infancy or did not exist at the time of the last RD Symposium, RD2010. These include the role of inflammation and immunity, as well as other basic mechanisms, in age-related macular degeneration, several new aspects of gene therapy, and revolutionary new imaging and functional testing that will have a huge impact on the diagnosis and following the course of retinal degenerations, as well as to provide new quantitative endpoints for clinical trials. The retina is an approachable part of the central nervous system (CNS), and there is a major interest in neuroprotective and gene therapy for CNS diseases and neurodegenerations, in general. It should be noted that with successful and exciting initial clinical trials in neuroprotective and gene therapy, including the restoration of sight in blind children, the retinal degeneration therapies are leading the way towards new therapeutic measures for neurodegenerations of the CNS. Many of the successes recently reported in these areas of retinal degeneration sprang from collaborations established at previous RD Symposia, and many of those will be reported at the RD2010 meeting and included in the proposed volume. We anticipate the excitement of those working in the field and those afflicted with retinal degenerations will be reflected in the volume.

2 The role of Ca+ as an internal messenger in visual transduction of vertebrate and invertebrate organisms has been explored intensely in the recent past. Since the 2 early 1970s, calcium ions and cyclic GMP (whose levels are controlled by Ca+ in vertebrates) have been recognized as important second messengers. Particularly in 2 the last decade, however, the role of Ca+ in visual transduction has been re-evalu- ated and a proliferation of research has documented a multiplicity of roles. 2 It is now evident that Ca+ modulates phototransduction by acting at several 2 sites through a host of small Ca+ -binding proteins. For example, in phototransduction 2 of vertebrates, Ca+-free forms of guanylate cyclase activating proteins (GCAPs) activate guanylate cyclase, modulating levels of cOMP, a key event in the return of photoreceptors to pre-bleach conditions. Defects in genes encoding guanylate cy- clase or guanylate cyclase activating proteins lead to severe diseases of the retina (e. g. , Leber congenital amaurosis, rod/cone dystrophy, or cone dystrophy), thus em- phasizing the important role of these proteins in phototransduction. Similarly, mu- 2 tant genes encoding cation or Ca+ channels (cyclic nucleotide-gated cation chan- 2 nels located in the cell membrane and L-type voltage-gated Ca+ channels located at the synapse of photo receptors) lead to retinitis pigmentosa or congenital stationary night blindness. In phototransduction of invertebrate organisms (e. g. , Drosophila 2 and Limulus), the role of Ca+ is similarly central, but distinct, from that of vertebrates.

Data is more valuable than ever in the twenty-first century, and tremendous amounts of data are being generated every second. With a fast-growing information industry, engineers are required to develop new tools and techniques that increase human capabilities of mining useful knowledge from the vast amounts of data. Optimized Genetic Programming Applications: Emerging Research and Opportunities is an essential reference source that explores the concept of genetic programming and its role in managing engineering problems. It also examines genetic programming as a supervised machine learning technique, focusing on implementation and application. As a resource that details both the theoretical aspects and implementation of genetic programming, this book is a useful source for academicians, biological engineers, computer programmers, scientists, researchers, and upper-level students seeking the latest research on genetic programming.

This book addresses the differentiation control of skeletal muscle in different locations of the vertebrate body Particular attention is paid to novel regulatory molecules and signals as well as the heterogeneity of origin that have revealed a developmental overlap between skeletal and cardiac muscle. Different functional muscle groups are the product of the evolution of the vertebrate classes, making a phylogenetic comparison worthwhile for understanding the role of muscle stem cells and precursors in myogenesis. New insights into the hierarchy of transcription factors, particularly in the context of these different muscle groups have been gained from detailed investigations of the spatio-temporal and regulatory relationships derived from mouse and zebrafish genetics and avian microsurgery. Importantly, epigenetic mechanisms that have surfaced recently, in particular the role of MyomiRs, are also surveyed. With an eye to the human patient, encouraging results have been generated that identify parallels between embryonic myogenesis and regenerating myofibers due to common regulatory molecules. On the other hand, both processes differ considerably in quality and complexity of the processes employed. Interestingly, the heterogeneity in embryonic sources from which skeletal muscle groups in the vertebrate including the human body take origin is paralleled by differences in their susceptibility to particular muscle dystrophies as well as by the characteristics of the satellite cells involved in regeneration. The progress that has been made in the field of muscle stem cell biology, with special focus on the satellite cells, is outlined in this book by experts in the field. The authors review recent insights of the heterogeneous nature of these satellite cells regarding their gene signatures and regeneration potential. Furthermore, an improved understanding of muscle stem cells seems only possible when we study the impact of the cell environment on efficient stem cell replacement therapies for muscular dystrophies, putting embryological findings from different vertebrate classes and stem cell approaches into context.

This second edition presents an up-to-date overview of the current state-of-the-art protocols and aims to miRNomics into a broader perspective. Chapters detail methods and techniques ranging from miRNA biogenesis, their biological function, computational analyses to their medical implications and applications. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, application details for both the expert and non-expert reader and tips on troubleshooting and avoiding known pitfalls. Authoritative and accessible, miRNomics: MicroRNA Biology and Computational Analysis, Second Edition ensures successful results in the further study of this vital field.

The aim of this book is to improve pyrosequencing protocols as well as instrumentation for better clinical use by describing improvements and novel applications of pyrosequencing technology. Divided into five parts, the book's thirty chapters explore advances in pyrosequencing template preparation, pyrosequencing technology innovations, multiplex pyrosequencing based on barcodes, the miniaturization of pyrosequencing equipment, as well as various applications. As part of the Springer Protocols program, chapters contain the kind of detail and practical implementation advice to guarantee successful results in the lab. Comprehensive and thorough, Advances and Clinical Practice in Pyrosequencing serves as a valuable reference for researchers who are engaged in personalized medicine, disease control, and DNA diagnosis in numerous other fields.

This volume provides a comprehensive collection of current methods and protocols to study posttranscriptional base modifications in RNA with special focus on methylation. The protocols in this book discuss state-of-the-art methods for investigating aspects of RNA methylation on different types of RNA. The protocols cover topics such as wet-lab techniques for the detection of methylation, instructions for bioinformatics analyses of transcriptome-scale data, and protocols for the functional examination of RNA modifications and enzymes. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Cutting-edge and thorough, RNA Methylation: Methods and Protocols is a valuable resource for biochemists and molecular biologists, from various fields, who wish to investigate different types of RNA methylations.

This fourth edition of Huntington's Disease presents a comprehensive summary of the current knowledge of this disease, including the major scientific and clinical advances that have occurred since publication of the third edition in 2002. Completely updated and expanded, chapters in this volume are organized in five sections: * Clinical aspects of Huntington's disease, including updated chapters on historical perspectives, neurological, neuropsychiatric, and neuropsychological aspects, and new chapters on juvenile Huntington's and the premanifest and early stages * The genetics of Huntington's disease, including new information on its epidemiology discussions of new testing guidelines * Neurobiology, including recent insights into correlations between pathology and symptoms and a new chapter on neuronal circuitry * The molecular biology of Huntington's disease, including new chapters on the normal function of huntingtin, the molecular pathogenesis of Huntington's disease and the peripheral pathology of the disorder, and an extensively updated chapter on its structural biology * An updated description of the comprehensive care for Huntington's disease, featureing a new chapter on preclinical therapeutics and a completely rewritten chapter on the state of the art of experimental therapeutics and clinical trials.

This volume provides an overview about main RNA editing mechanisms, focusing on their functions in physiological as well as pathological conditions. Chapters guide readers through state- of-the art methodologies to investigate RNA editing through wet and dry approaches. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and cutting-edge, RNA Editing: Methods and Protocols aims to ensure successful results in the further study of this vital field.

The recent accumulation of information from genomes, including their sequences, has resultednotonlyinnewattemptstoansweroldquestionsandsolvelongstandingissues inbiology, butalsointheformulationofnovelhypothesesthatarisepreciselyfromthis wealth of data. The storage, processing, description, transmission, connection, and analysis of these data has prompted bioinformatics to become one the most relevant applied sciences for this new century, walking hand-in-hand with modern molecular biology and clearly impacting areas like biotechnology and biomedicine. Bioinformatics skills have now become essential for many scientists working with DNA sequences. With this idea in mind, this book aims to provide practical guidance andtroubleshootingadviceforthecomputationalanalysisofDNAsequences, covering a range of issues and methods that unveil the multitude of applications and relevance that Bioinformatics has today. The analysis of protein sequences has been purposely excludedtogainfocus.Individualbookchaptersareorientedtowardthedescriptionof theuseofspecificbioinformaticstools, accompaniedbypracticalexamples, adiscussion on the interpretation of results, and specific comments on strengths and limitations of the methods and tools. In a sense, chapters could be seen as enriched task-oriented manuals that will direct the reader in completing specific bioinformatics analyses. The target audience for this book is biochemists, and molecular and evolutionary biologiststhatwanttolearnhowtoanalyzeDNAsequencesinasimplebutmeaningful fashion. Readers do not need a special background in statistics, mathematics, or computer science, just a basic knowledge of molecular biology and genetics. All the tools described in the book are free and all of them can be downloaded or accessed throughtheweb.Mostchapterscouldbeusedforpracticaladvancedundergraduateor graduate-level courses in bioinformatics and molecular evolut

This book offers one of the most comprehensive reviews in the field of gastrointestinal (GI) physiology, guiding readers on a journey through the complete digestive tract, while also highlighting related organs and glandular systems. It is not solely limited to organ system physiology, and related disciplines like anatomy and histology, but also examines the molecular and cellular processes that keep the digestive system running. As such, the book provides extensive information on the molecular, cellular, tissue, organ, and system levels of functions in the GI system. Chapters on the roles of the gut as an endocrine, exocrine and neural organ, as well as its microbiome functions, broaden readers' understanding of the multi-organ networks in the human body. To help illustrate the interconnections between the physiological concepts, principles and clinical presentations, it outlines clinical examples such as pathologies that link basic science with clinical practice in special "clinical correlates" sections. Covering both traditional and contemporary topics, it is a valuable resource for biomedical students, as well as healthcare and scientific professionals.

This book provides an introduction to the latest gene mapping techniques and their applications in biomedical research and evolutionary biology. It especially highlights the advances made in large-scale genomic sequencing. Results of studies that illustrate how the new approaches have improved our understanding of the genetic basis of complex phenotypes including multifactorial diseases (e.g., cardiovascular disease, type 2 diabetes, and obesity), anatomic characteristics (e.g., the craniofacial complex), and neurological and behavioral phenotypes (e.g., human brain structure and nonhuman primate behavior) are presented. Topics covered include linkage and association methods, gene expression, copy number variation, next-generation sequencing, comparative genomics, population structure, and a discussion of the Human Genome Project. Further included are discussions of the use of statistical genetic and genetic epidemiologic techniques to decipher the genetic architecture of normal and disease-related complex phenotypes using data from both humans and non-human primates.

• Provides self-Learning about DNA Fingerprinting • Includes sections on how to analyze and interpret DNA fingerprinting • Covers legal and medicolegal issues and case analyses • Teaches novice legal community about DNA fingerprints • Summarizes for a general audience the role of ancestry, DNA and what that means.

• Provides self-Learning about DNA Fingerprinting • Includes sections on how to analyze and interpret DNA fingerprinting • Covers legal and medicolegal issues and case analyses • Teaches novice legal community about DNA fingerprints • Summarizes for a general audience the role of ancestry, DNA and what that means.

Advances in genetics, molecular biology and gene delivery technologies in recent years have led to new gene therapy strategies for treatment of a variety of diseases. This book gives a comprehensive overview of the present status and future directions of gene delivery systems and therapeutic strategies for the clinical application of gene therapy in cancer, cardiovascular and central nervous system diseases. Stem cell-based therapies and gene expression regulatory systems as novel platform technologies for various gene therapy applications are also discussed. Leading experts give excellent overviews of basic molecular aspects and clinical applications in this new emerging biomedical field.

In Tiling Arrays: Methods and Protocols, expert researchers in the field detail many of the methods which are now commonly used to study tiling microarrays in genomic discovery . These include methods and applications for transcriptional regulation, expression, genetic and epigenetic regulation, as well as techniques and skills on tiling microarray data analysis. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and key tips on troubleshooting and avoiding known pitfalls. Authoritative and practical, Tiling Arrays: Methods and Protocols seeks to provide scientists with a comprehensive and down to earth approach to maximize results.

Genomics in the Clinic: A Practical Guide to Genetic Testing, Evaluation, and Counseling illustrates the current scope of the practice of genetics for healthcare professionals, so they can understand principles applicable to genetic testing and consultation. Written by an authoritative well-balanced team, including experienced clinical geneticists, genetic counselors, and medical subspecialists, this book adopts an accessible, easy-to-follow format. Sections are dedicated to basic genetic principles; clinical genetic and genomic testing; prenatal, clinical and cancer genetic diagnosis and counseling; and ethical and social implications in genomic medicine. Over 100 illustrative cases examine a range of prenatal, pediatric and adult genetic conditions and testing, putting these concepts and approaches into practice. Genomics in the Clinic: A Practical Guide to Genetic Testing, Evaluation, and Counseling is important for primary care providers, as patient care evolves in the current genomic-influenced world of precision medicine.