JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

After sequencing the human genome a decade ago, researchers have continued their projects, but now to try to better understand how, and when, genes are expressed in health and disease. Efforts have been concentrated on the measurement of the expression of RNA transcripts. In an analogy to the genome, the term "transcriptome" was created to refer to the complete set of RNAs in a cell type or tissue in a particular situation. Transcriptomics is the science that studies this issue and it is a branch of functional genomics. Transcriptomics in Heath and Disease provides a comprehensive overview of the science of transcriptomics initially in health, focusing on the concept of the transcriptome and the main methods to evaluate it. The authors discuss the concept and use of gene expression signatures and transcriptional biomarkers in normal development and diseased tissues and organs. As the transcriptome changes depending on the pathology, there is also a focus on the variations in the gene expression in different diseases such as autoimmune, inflammation, cancer and infections. This book should be very useful for researchers in molecular biology focusing on gene expression, human genetics, immunology, and genomics.

Intriguing new findings on how genes and environments work together through different stages of life take the spotlight in this significant collection. Studies from infancy to late adulthood show both forces as shaping individuals' relationships within family and non-family contexts, and examine how these relationships, in turn, continue to shape the individual. Transitional periods, in which individuals become more autonomous and relationships and personal identities become more complicated, receive special emphasis. In addition, chapters shed light on the extent to which the quantity and quality of genetic and environmental influence may shift across and even within life stages. Included in the coverage: Gene-environment interplay in parenting young children. The sibling relationship as a source of shared environment. Gene-environment transactions in childhood and adolescent problematic peer relationships. Toward a developmentally sensitive and genetically informed perspective on popularity. Spouse, parent, and co-worker: roles and relationships in adulthood. The family system as a unit of clinical care: the role of genetic systems. Behavioral geneticists, clinical psychologists, and family therapists will find in Gene-Environment Interplay in Interpersonal Relationships across the Lifespan a window into current thinking on the subject, new perspectives for understanding clients and cases, and ideas for further study.

Written for non-experts, this volume introduces the mechanisms that underlie reticulate evolution. Chapters are either accompanied with glossaries that explain new terminology or timelines that position pioneering scholars and their major discoveries in their historical contexts. The contributing authors outline the history and original context of discovery of symbiosis, symbiogenesis, lateral gene transfer, hybridization or divergence with gene flow and infectious heredity. By applying key insights from the areas of molecular (phylo)genetics, microbiology, virology, ecology, systematics, immunology, epidemiology and computational science, they demonstrate how reticulate evolution impacts successful survival, fitness and speciation. Reticulate evolution brings forth a challenge to the standard Neo-Darwinian framework, which defines life as the outcome of bifurcation and ramification patterns brought forth by the vertical mechanism of natural selection. Reticulate evolution puts forward a pattern in the tree of life that is characterized by horizontal mergings and lineage crossings induced by symbiosis, symbiogenesis, lateral gene transfer, hybridization or divergence with gene flow and infective heredity, making the “tree of life� look more like a “web of life.� On an epistemological level, the various means by which hereditary material can be transferred horizontally challenges our classic notions of units and levels of evolution, fitness, modes of transmission, linearity, communities and biological individuality. The case studies presented examine topics including the origin of the eukaryotic cell and its organelles through symbiogenesis; the origin of algae through primary and secondary symbiosis and dinoflagellates through tertiary symbiosis; the superorganism and holobiont as units of evolution; how endosymbiosis induces speciation in multicellular life forms; transferrable and non-transferrable plasmids and how they symbiotically interact with their host; the means by which pro- and eukaryotic organisms transfer genes laterally (bacterial transformation, transduction and conjugation as well as transposons and other mobile genetic elements); hybridization and divergence with gene flow in sexually-reproducing individuals; current (human) microbiome and viriome studies that impact our knowledge concerning the evolution of organismal health and acquired immunity; and how symbiosis and symbiogenesis can be modelled in computational evolution.

Pharmacogenomics supports personalized medicine by translating genome-based knowledge into clinical practice, offering enhanced benefit for patients and health-care systems at large. Current routine practice for diagnosing and treating patients is conducted by correlating parameters such as age, gender and weight with risks and expected treatment outcomes. In the new era of personalized medicine the healthcare provider is equipped with improved ability to prevent, diagnose, treat and predict outcomes on the basis of complex information sources, including genetic and genomic data.  Targeted therapy and reliable prediction of expected outcomes offer patients access to better healthcare management, by way of identifying the therapies effective for the relevant patient group, avoiding prescription of unnecessary treatment and reducing the likelihood of developing adverse drug reactions.

JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

This book examines the toxicological and health implications of environmental epigenetics and provides knowledge through an interdisciplinary approach. Included in this volume are chapters outlining various environmental risk factors such as phthalates and dietary components, life states such as pregnancy and ageing, hormonal and metabolic considerations and specific disease risks such as cancer cardiovascular diseases and other non-communicable diseases. Environmental Epigenetics imparts integrative knowledge of the science of epigenetics and the issues raised in environmental epidemiology. This book is intended to serve both as a reference compendium on environmental epigenetics for scientists in academia, industry and laboratories and as a textbook for graduate level environmental health courses. Environmental Epigenetics imparts integrative knowledge of the science of epigenetics and the issues raised in environmental epidemiology. This book is intended to serve both as a reference compendium on environmental epigenetics for scientists in academia, industry and laboratories and as a textbook for graduate level environmental health courses.

This book explores key applications of phage biotechnology and reviews recent advances in phage display technologies. The applications covered were selected on the basis of their significance and representativeness in the field. The small size and enormous diversity of bacteriophages make them ideal candidates for numerous applications across many industries. Since the discovery of phages and the advent of phage display systems, considerable attention has been focused on the development of novel therapeutic and industrial applications. Recent studies combine the genomic flexibility of phages with phage display systems in order to generate modified phages for targeted delivery.

In the past two decades we have seen a surge forward in understanding the genetics and biochemistry underlying many pediatric orthopaedic disorders. A few projects have even progressed into the realm of clinical trials that are primarily aimed at controlling progressive disease. Meanwhile, genomic technology development has outpaced expectations and is enabling gene discovery for disorders that were previously intractable with traditional genetic methods. Included in this latter category are common disorders that display multigenic inheritance, sporadic disorders, and very rare conditions that are difficult to ascertain. Simultaneously, the study of pediatric orthopaedic disorders has been continuously refined and updated, highlighting a number of likely genetic conditions that are as yet unsolved. Molecular Genetics of Pediatric Orthopaedic Disorders updates researchers and clinicians of new developments of pediatric orthopaedic genetics. The chapters inform the audience on the revolution in new genomic methods and the impact this is having on potential study designs and the potential to discover genetic causes of many unsolved orthopaedic conditions. Recent examples have been included of pediatric orthopaedic conditions, both rare and common, that are being solved with these new methods. The book also educates pediatric orthopedic clinicians and geneticists on our understanding of the biology of "classic" genetic diseases that were derived from prior genetic studies. Chapters include biobanks and strategies for studying very rare disorders, genes and pathways causing primordial dwarfism, and notch signaling in congenital scoliosis, and more.

This book presents results obtained from the whole mount preparations, radiological, and histological studies of 60 pu/pu and pu/+ mice from late embryo until 3 months of age. Most mice were in the embryo to 6 week age group where vertebral developmental changes are most marked. Although vertebral abnormalities have been identified as due to mutations in the delta-like 3 (Dll3) gene, it is evident that each mouse has differing structural abnormalities. The disorder is analogous to human congenital scoliosis, a common variant of which is spondylocostal dysplasia. The histological studies presented in this book include plastic embedded sections which allow for high level resolution not only of vertebrae, intervertebral discs, and ribs but also of associated spinal cord, nerve roots and ganglia. In addition an overview of embryo and neonatal development in mouse, chick and human vertebrae is provided to better assess how and where deviant pathoanatomy occurs. The book discusses the possible variables involved in creating final deformity beyond the gene abnormality itself.

The release of the complete version of the human genome sequence in 2003 has paved the way for defining gene function and genetic background for phenotypic variation in humans and allowed us to study the aging process in a new light. This new volume results from that research and focuses on the genetic and epigenetic process of aging. While the interpretation of the genome data is still in its initial stages, this new volume looks at the evolving understanding of molecular mechanisms involved in cellular processes, gene function associated with complex traits, epigenetic components involve in gene control and the creation of hypothesis-free genome-wide approaches. Longevity Genes: A Blueprint for Aging explores the genetic and genomic elements that can maintain a long life such as DNA damage mechanisms, epigenetics and the way we can use this knowledge to generate customized treatments. It touches on some of the multidisciplinary approaches as well as genomic-wide association technology used to analyze complex traits. This book describes the hunt for genes affecting complex traits using a high throughput technology, with adequate consideration for the selection of an appropriate population, applications of statistical genetics and computational biology, and most importantly, considering phenotype-genotype association studies. Longevity Genes provides coverage of not only established aspects of genetics and aging, but also new approaches and perceptions in this important area of research.

This is a short and self-contained introduction to the field of mathematical modeling of gene-networks in bacteria. As an entry point to the field, we focus on the analysis of simple gene-network dynamics. The notes commence with an introduction to the deterministic modeling of gene-networks, with extensive reference to applicable results coming from dynamical systems theory. The second part of the notes treats extensively several approaches to the study of gene-network dynamics in the presence of noise-either arising from low numbers of molecules involved, or due to noise external to the regulatory process. The third and final part of the notes gives a detailed treatment of three well studied and concrete examples of gene-network dynamics by considering the lactose operon, the tryptophan operon, and the lysis-lysogeny switch. The notes contain an index for easy location of particular topics as well as an extensive bibliography of the current literature. The target audience of these notes are mainly graduates students and young researchers with a solid mathematical background (calculus, ordinary differential equations, and probability theory at a minimum), as well as with basic notions of biochemistry, cell biology, and molecular biology. They are meant to serve as a readable and brief entry point into a field that is currently highly active, and will allow the reader to grasp the current state of research and so prepare them for defining and tackling new research problems.

With the detailed genomic information that is now becoming available, we have a plethora of data that allows researchers to address questions in a variety of areas. Genome-wide association studies (GWAS) have become a vital approach to identify candidate regions associated with complex diseases in human medicine, production traits in agriculture, and variation in wild populations. Genomic prediction goes a step further, attempting to predict phenotypic variation in these traits from genomic information. Genome-Wide Association Studies and Genomic Prediction pulls together expert contributions to address this important area of study. The volume begins with a section covering the phenotypes of interest as well as design issues for GWAS, then moves on to discuss efficient computational methods to store and handle large datasets, quality control measures, phasing, haplotype inference, and imputation. Later chapters deal with statistical approaches to data analysis where the experimental objective is either to confirm the biology by identifying genomic regions associated to a trait or to use the data to make genomic predictions about a future phenotypic outcome (e.g. predict onset of disease). As part of the Methods in Molecular Biology series, chapters provide helpful, real-world implementation advice.

The ability of a single genome to give rise to hundreds of functionally distinct cell type programs is in itself remarkable. Pioneering studies over the past few decades have demonstrated that this plasticity is retained throughout development, a phenomenon of epigenetic programming and reprogramming that remains one of the most fascinating areas of modern biology, with major relevance to human health and disease. This book presents the basic biology involved, including key mechanistic insights into this rapidly growing field.

This volume provides the reader with a pathophysiological perspective on the role of CNS in puberty and adolescence, starting from genetic/molecular aspects, going through structural/imaging changes and leading to physical/behavioral characteristics. Therefore, renowned investigators involved in both animal and human research shared recent data as well as overall appraisal of relevant questions around CNS control of puberty and adolescence. No doubt that this volume will inspire those involved in either scientific research or clinical practice or both in the fascinating field of puberty and adolescence.

Breast cancer is the most common cancer in females that accounts for highest cancer specific deaths worldwide. In the last few decades research has proven that breast cancer can be treated if diagnosed at early stages and proper therapeutic strategy is adopted. Omics-based recent approaches have unveiled the molecular mechanism behind the breast tumorigenesis and aid in identification of next-generation molecular markers for early diagnosis, prognosis and even the effective targeted therapy. Significant development has taken place in the field of omics in breast cancer in the last decade. The most promising omics approaches and their outcomes in breast cancer have been presented in this book for the first time. The book covers omics technologies and budding fields such as breast cancer miRNA, lipidomics, epigenomics, proteomics, nutrigenomics, stem cell, pharmacogenomics and personalized medicine and many more along with conventional topics such as breast cancer management etc. It is a research-based reference book useful for clinician-scientists, researchers, geneticists and health care industries involved in various aspects of breast cancer. The book will also be useful for students of biomedicine, pathology and pharmacy.

This volume presents the most recent studies on mRNA polyadenylation in plants. Chapters are divided into three sections covering recent development of the use of bioinformatics tools in the field. numerous molecular, biochemical, and methods used to characterize polyadenylation sites on a genome-wide scale. 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. Some are specific for plant research, but most can be adopted for research in other organisms. Authoritative and practical, Polyadenylation in Plants: Methods and Protocols provides scientists with a wide range of methods to study mRNA 3'-end formation in plants.

The integrin family is composed of 24 members and approximately ten years ago (2003) we published a book devoted to the nine I domain integrin subunits. In this second edition, I am pleased that most of the original authors have been able to contribute to the updated version. I domain containing integrins include collagen receptors and leukocyte receptors. In 2003 the knockout mouse phenotypes for all of the I domain integrins had not yet been published; they are now, and are summarized and discussed in this edition. Interestingly, a recent 10 integrin mutation in dogs has indicated that collagen-binding integrins in the musculoskeletal system might have much more severe phenotypes in larger animals/humans compared to the mild integrin phenotypes observed in collagen-binding integrin deficient mice. This finding is further discussed in the book. In the cancer field, the microenvironment is taking center stage, and here collagen receptors on fibroblasts are predicted to play important roles in paracrine signaling, in regulating tissue stiffness and matrix remodeling. New technologies, new mouse models in combination with analyses of I integrins in larger animals/humans are thus predicted to increase our knowledge about this group of receptors. With this in mind we look forward to another 10 years of research with I domain integrins.

This volume presents a valuable and readily reproducible collection of established and emerging techniques on modern genetic analyses. Chapters focus on statistical or data mining analyses, genetic architecture, the burden of multiple testing, genetic variance, measuring epistasis, multifactor dimensionality reduction, and ReliefF. 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, Epistasis: Methods and Protocols aids scientists in continuing to study elucidate epistasis in the context of modern data availability.

Cancer Genomics and Proteomics: Methods and Protocols, Second Edition includes methods for the analyses of cancer genome and proteome that have illuminated us about the changes in cancer cells. 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, Cancer Genomics and Proteomics: Methods and Protocols, Second Edition seeks to aid scientists in the further study into various aspects of tumor initiation and progression.

This new edition explores current and emerging mutagenesis methods focusing specifically on mammalian systems and commonly used model organisms through comprehensive coverage and detailed protocols. Since the first edition, major advances and discoveries have made chromosomal mutagenesis a widely used technique and one that is available to any molecular biology laboratory, and this collection provides detailed protocols, case-studies, and reviews from thought-leaders in the field. 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 fully updated, Chromosomal Mutagenesis, Second Edition aims to help speed scientific discovery and aid in the next advances in the field.

Hox Genes: Methods and Protocols explores techniques and methodologies which arose from or were successfully applied to the study of Hox genes and Hox proteins, at the intersection of experimental embryology, genetics, biochemistry, physiology, evolutionary biology and other life sciences. This detailed volume begins with a section on discovery and functional analysis of Hox genes and then it continues onward to discuss mode of action and biomedical applications of Hox proteins. 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. Expert and practical, Hox Genes: Methods and Protocols serves as an ideal guide to researchers striving to move forward in this dynamic and exciting area of study.

Transcription Factor Regulatory Methods details various techniques ranging from cutting-edge to general techniques use to study transcription factor regulatory networks. 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, Transcription Factor Regulatory Methods aids scientists in the further study into post-genomic or the personal genomic era.

Most biological reactions and functions occur within a narrow range of pH. Any changes in the pH have great impacts on the biological functional at every level, including protein folding, enzymatic activities and proliferation and cell death. Therefore, maintain the pH homeostasis at the local or systemic level is one of the highest priorities for all multicellular organisms. Many redundant mechanisms are in place to maintain the pH homeostasis, a topic that is well covered in the scientific literature and medical textbooks. However, when the pH homeostasis is disrupted in various physiological adaptations and pathological situations, resulting acidity may trigger significant pathophysiological events and modulate disease outcomes. Therefore, understanding how various cells sense and react to acidity have broad impact in a wide variety of human diseases, including cancer, stroke, myocardial infarction and diabetes, renal and infectious diseases. In this book, many investigators have summarized the molecular genetics on the detailed mechanisms by which different mammalian cells sense and response acidity. These chapters cover the acidity with broad impact in biological understanding and human diseases and review various sensing mechanism and cellular responses to pH alterations in both physiological (taste, pain) and pathological settings (ischemia and cancers). Furthermore, these authors present a broad spectrum of investigative approaches to cellular response to acidosis in a in wide variety of human diseases.

RNA Interference: Challenges and Therapeutic Opportunities provides readers with recent advances in siRNA design, delivery, targeting and methods to minimize siRNA's unwanted effects. Preclinical and clinical use of synthetic siRNAs, the roles of miRNAs in cancer and the promise of extracellular miRNAs for diagnosis are also covered in this meticulous collection, along with novel methods for identifying endogenous siRNAs and the annotation of small RNA transcriptomes. Written for the highly successful Methods in Molecular Biology series, chapters include the kind of detail and key implementation advice that ensures successful results in the laboratory. Comprehensive and cutting-edge, RNA Interference: Challenges and Therapeutic Opportunities will aid researchers, clinicians, teachers and biotechnologists interested in the power of RNA-based therapies.