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.

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.

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.

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.

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.

Progress in Genomic Medicine: From Research to Clinical Application provides a careful synthesis of the foundations, current trends and translational challenges in genomic medicine, clarifying pathways forward and enabling genomic medicine research and implementation across clinical settings and treatment development. Sections address the history and growth of genetic medicine, with a discussion of key studies in syndrome delineations, inherited diseases, biochemical genetics, and chromosome abnormalities, overview clinical applications made possible through genomic advances, with chapters on DNA sequencing for clinical genetic diagnosis, genotype-phenotype correlations in individuals and across populations, new-born screening for treatable genetic disorders, and more. In addition, social, ethical and public health aspects of applying genomic technologies are included throughout. Here, Dr. Smith applies her experience and participation in the field, across its major milestones, to put current research, clinical advances, and ongoing questions in context.

The book provides an in-depth and comprehensive overview of the essential role of non-coding RNAs (ncRNAs) in bone formation. In combination with researches from multiple scholars in this field, the book reviews the mechanisms of ncRNA-related bone diseases, as well as the potential applications of RNA synthesis technology in bone disorder treatments. This volume covers the following topics: 1) basic introduction of non-coding RNA and bone development, how 2) microRNAs and 3) long noncoding RNAs (LncRNAs) regulate bone formation, 4) how ncRNAs and the corresponding pathways participate in bone metabolism diseases, 5) RNA synthesis technology and the possible RNA therapies in bone disease. Researchers and students in the fields of human genetics, human physiology, developmental biology and biomedical engineering, as well as professionals and scientists in Orthopedics, will particularly find this book helpful.

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 volume presents techniques needed for the study of long non-coding RNAs (lncRNAs) in cancer from their identification to functional characterization. Chapters guide readers through identification of lncRNA expression signatures in cancer tissue or liquid biopsies by RNAseq, single Cell RNAseq, Phospho RNAseq or Nanopore Sequencing techniques; validation of lncRNA signatures by Real time PCR, digital PCR or in situ hybridization; and functional analysis by siRNA or CRISPR based methods for lncRNA silencing or overexpression. Lipid based nanoparticles for delivery of siRNAs in vivo, lncRNA-protein interactions, viral lncRNAs and circRNAs are also treated in this volume. Written in the format of the highly successful Methods in Molecular Biology series, each chapter includes an introduction to the topic, lists necessary materials and reagents, includes tips on troubleshooting and known pitfalls, and step-by-step, readily reproducible protocols.   Authoritative and practical, Long Non-Coding RNAs in Cancer aims to provide a collection of laboratory protocols, bioinformatic pipelines, and review chapters to further research in 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.

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 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.

Takes the fear out of learning about genetics and genomics for the nursing professionalWith its focus on the basics of genetics and genomics in nursing practice, this Fast Facts resource is the first to fill the content gap in this important area. Its streamlined format-featuring bulleted, step-by-step information and brief paragraphs-disseminates key content that is presented simply and understandably. The book examines how genetics impacts families and the care they need, and provides nurses with the genomic knowledge to advocate for personalized patient and family care, and to improve patient outcomes. Following a discussion of the science and foundations of genetics and genomics, this resource addresses their impact on patient care and application in nursing practice. It covers the relationship of genetics and genomics to health, prevention, screening, diagnostics, prognostics, and selection and monitoring of treatment. Case studies demonstrate how genomic concepts are applied in practice, and underscore their implications for patients with cancer, cardiovascular disease, psychiatric disorders, and autoimmune deficiencies. End of chapter questions are designed to assess knowledge. Also included are online resources that examine the latest genetic/genomic advancements and their impact on nursing. Key Features: Simplifies difficult concepts for ease of understanding Explains the difference between genetic testing and genetic screening Discusses ethical, legal, and social concerns specific to genetics and genomics Describes the application of genetics and genomics in healthcare Explains how knowledge of genetics and genomics can guide healthcare decisions Helps nurse educators teach genomic content Educates nurses in using genetic advances to improve patient outcomes

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.

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.

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.

RNA binding proteins are an exciting area of research in gene regulation. A multitude of RNA-protein interactions are used to regulate gene expression including pre-mRNA splicing, polyadenylation, editing, transport, cytoplasmic targeting, translation and mRNA turnover. In addition to these post-transcriptional processes, RNA-protein interactions play a key role in transcription as illustrated by the life cycle of retroviruses. Unlike DNA, the structure of RNA is highly variable and conformationally flexible, thus creating a number of unique binding sites and the potential for complex regulation by RNA binding proteins. Although there is a wide range of topics included in this volume, general themes have been repeated, highlighting the overall integrative nature of RNA binding proteins. The chapters have been separated into three different sections: Translational Control; mRNA Metabolism; and Hormonal and Homeostatic Regulation. The chapters of this volume were written with the seasoned investigator and student in mind. Summaries of key concepts are reviewed within each chapter as well as guiding questions that can be used to stimulate class discussions. The Editors of this volume hope that this compendium educates, enthralls, and stimulates the readers to look to the future possibilities in this rapidly evolving field.

This book reviews the chemical, regulatory, and physiological mechanisms of protein arginine and lysine methyltransferases, as well as nucleic acid methylations and methylating enzymes. Protein and nucleic acid methylation play key and diverse roles in cellular signalling and regulating macromolecular cell functions. Protein arginine and lysine methyltransferases are the predominant enzymes that catalyse S-adenosylmethionine (SAM)-dependent methylation of protein substrates. These enzymes catalyse a nucleophilic substitution of a methyl group to an arginine or lysine side chain nitrogen (N) atom. Cells also have additional protein methyltransferases, which target other amino acids in peptidyl side chains or N-termini and C-termini, such as glutamate, glutamine, and histidine. All these protein methyltransferases use a similar mechanism. In contrast, nucleic acids (DNA and RNA) are substrates for methylating enzymes, which employ various chemical mechanisms to methylate nucleosides at nitrogen (N), oxygen (O), and carbon (C) atoms. This book illustrates how, thanks to there ability to expand their repertoire of functions to the modified substrates, protein and nucleic acid methylation processes play a key role in cells.

This volume aims to explore the latest developments in adeno-associated viral and lentiviral vectors as well as the gene therapy strategies for the most common neurological disorders, followed by chapters that include step-by-step guides to viral vector-based gene delivery in animal models used in the authors' laboratories. Although safe gene manipulation in neural cells can be achieved, it may still be years away from efficacious gene-based treatment of neurological disorders such as Parkinson's and Alzheimer's diseases due to the complexity of the underlying genetic/molecular mechanisms and the difficulty of developing reliable animal models. Gene Delivery and Therapy for Neurological Disorders seeks to aid researchers in this vital work. Written in the popular Neuromethods series format, chapters include the kind of detailed description and expert implementation advice that leads to success in the lab. Meticulous and authoritative, Gene Delivery and Therapy for Neurological Disorders serves as an ideal guide for researchers attempting to explore the potentials of gene therapy for neurological disorders.

This book contains a comprehensive series of reviews on the calcitonin gene-related peptide (CGRP) family of peptides. This family of peptide hormones has a diverse and constantly expanding range of important physiologic functions, including regulation of blood calcium, vascular tension, feeding behavior and pain recognition.

This volume includes chapters on:

• The adrenomedullin peptides and signalling
• Ligand binding and activation of the CGRP receptor
• Understanding amylin receptors
• The CGRP-receptor component protein
• The calcitonin peptide family
• Genetic regulation of CGRP
• Vascular actions of CGRP and adrenomedullin
• Intermedin/adrenomedullin 2 function
• CGRP and adrenomedullin as pain-related peptides
• Amylinergic control of ingestive behaviour
• Calcitonin receptors

This book discusses their receptors, physiological and pathophysiological functions and potential as clinical targets. It will appeal to researchers who study any of these peptides and those with an interest in migraine therapy due to the involvement of CGRP in this disorder. The book is unique because it brings together research on the whole peptide family for the first time in several years. It will be a useful reference volume for researchers in this area. This book will also appeal to researchers in the broader field of bioactive peptides.

• 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.