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 new edited volume in the Springer Subcellular Biochemistry Series presents a comprehensive, state-of-the-art overview of the proteomics of peroxisomes derived from mammalian, Drosophila, fungal, and plant origin, and contains contributions from leading experts in the field. The development of sensitive proteomics and mass spectrometry technologies, combined with bioinformatics approaches now allow the identification of low-abundance and transient peroxisomal proteins and permits to identify the complete proteome of peroxisomes, with the consequent increase of our knowledge of the metabolic and regulatory networks of these important cellular organelles. The book lines-up with these developments and is organized in four sections including: (i) mass spectrometry-based organelle proteomics; (ii) prediction of peroxisomal proteomes; (iii) analysis of peroxisome proteome interaction networks; and (iv) peroxisomes in relation to other subcellular compartments. The editor Luis A. del Rio is Professor ad honorem of the Spanish National Research Council (CSIC) in the Group of Antioxidants, Free Radicals and Nitric Oxide in Biotechnology, Food and Agriculture, Department of Biochemistry and Cell & Molecular Biology of Plants, at the Estacion Experimental del Zaidin, Granada, Spain. Del Rio's research group focuses on the metabolism of reactive oxygen species (ROS), reactive nitrogen species (RNS) and antioxidants in plant peroxisomes, and the ROS- and RNS-dependent role of peroxisomes in plant cell signalling. The editor Michael Schrader is Professor of Cell Biology & Cytopathology in the Department of Biosciences at the University of Exeter, UK. Using mammalian peroxisomes as model organelles, Prof. Schrader and his team aim to unravel the molecular machinery and signalling pathways that mediate and regulate the formation, dynamics and abundance of these medically relevant cellular compartments.

This volume focuses on mitochondrial RNA metabolism, emphasizing recent discoveries and technological advances in this fast moving area that increase our understanding of mitochondrial gene function. Topics addressed include the interplay of mitochondria with the nucleus and cytosol, structure-function connections, and relevance to human disease. Mitochondria are the powerhouses of the cell, and a great deal is known about mitochondrial energy metabolism. Less well known is the plethora of amazing mechanisms that have evolved to control expression of mitochondrial genomes. Several RNA processes and machineries in protozoa, plants, flies and humans are discussed, including: transcription and RNA polymerase mechanism; tRNA processing of 5' and 3' ends; mRNA maturation by nucleotide insertion/deletion editing and by RNA splicing; mRNA stability; and RNA import. Specialized factors and ribonucleoproteins (RNPs) examined include pentatricopeptide repeat (PPR) proteins, RNase P, polymerases, helicases, nucleases, editing and repair enzymes. Remarkable features of these processes and factors are either not found outside mitochondria, differ substantially among eukaryotic lineages, or are unique in biology.

This book describes the design, fabrication and evaluation of a polymer-based neural interface for a cochlear electrode array, reviewed in terms of fabrication process, functionality, and reliability. Polymer-based devices have attracted attention in the neural prosthetic field due to their flexibility and compatibility with micro-fabrication process. A liquid crystal polymer (LCP) is an inert, highly water-resistant polymer suitable for the encapsulation of electronic components and as a substrate material for fabricating neural interfaces. The author has designed, fabricated, and evaluated an LCP-based cochlear electrode array for an improved polymer-based cochlear implant. The thesis deals with 3 key topics: atraumatic deep insertion, tripolar stimulation, and long-term reliability. Atraumatic insertion of the intracochlear electrode and resulting preservation of residual hearing have become essential in state-of-the-art cochlear implantation. A novel tapered design of an LCP-based cochlear electrode array is presented to meet such goals. For high-density and pitch-recognizable cochlear implant, channel interaction should be avoided. Local tripolar stimulation using multi-layered electrode sites are shown to achieve highly focused electrical stimulation. This thesis addresses another vital issue in the polymer-based neural implants: the long-term reliability issue. After suggesting a new method of forming mechanical interlocking to improve polymer-metal adhesion, the author performs accelerating aging tests to verify the method's efficacy. The aforementioned three topics have been thoroughly examined through various in vitro and in vivo studies. Verification foresees the development of LCP-based cochlear electrode array for an atraumatic deep insertion, advanced stimulation, and long-term clinical implant.

This book summarizes early pioneering achievements in the field of human neural stem cell (hNSC) research and combines them with the latest advances in stem cell technology, including reprogramming and gene editing. The powerful potential of hNSC to generate and repair the developing and adult CNS has been confirmed by numerous experimental in vitro and in vivo studies. The book presents methods for hNSC derivation and discusses the mechanisms underlying NSC in vitro fate decisions and their in vivo therapeutic mode of action. The long-standing dogma that the human central nervous system (CNS) lacks the ability to regenerate was refuted at the end of the 20th century, when evidence of the presence of neurogenic zones in the adult human brain was found. These neurogenic zones are home to human neural stem cells (hNSCs), which are capable of self-renewing and differentiating into neurons, astrocytes and oligodendrocytes. NSCs isolated from human CNS have a number of clinical advantages, especially the innate potential to differentiate into functional neural cells. Nevertheless, their full clinical exploitation has been hindered by limited access to the tissue and low expansion potential. The search for an alternative to CNS sources of autologous, therapeutically competent hNSCs was the driving force for the many studies proving the in vitro plasticity of different somatic stem cells to generate NSCs and their functional progeny. Now the era of induced pluripotent stem cells has opened entirely new opportunities to achieve research and therapeutic goals with the aid of hNSCs.

Leading researchers are specially invited to provide a complete understanding of a key topic within the multidisciplinary fields of physiology, biochemistry and pharmacology. In a form immediately useful to scientists, this periodical aims to filter, highlight and review the latest developments in these rapidly advancing fields.

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.

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.

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.

We live in an era of personalized medicine and the knowledge about pathophysiology of diffuse gastric cancer has had many advances. Thus, the role of this work is to clarify what is new from diagnosis to treatment of this disease in order to treat patients in the most tailored manner as possible. Almost all phase III trials in gastric cancer have been performed without taking in consideration histologic subtypes, i.e. they have disregarded the differences between diffuse gastric cancer and general gastric cancer. However, the clinical practice reveals that diffuse gastric cancer is a completely distinct disease, with an aggressive course and generally worse prognosis. The loss of cohesion between tumor cells due to the loss of E-cadherin synthesis is the critical point on the oncogenesis of diffuse gastric cancer and is at the root of its marked heredity. This book intends to give special attention to Diffuse Gastric Cancer as a particular oncological entity, differentiating it from general gastric cancer, exploring and discussing all its peculiarities, and addressing the basic aspects (pathology and genetics) along with the most recent therapeutic alternatives for this condition.

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 presents descriptive overviews of gene editing strategies across multiple species while also offering in-depth insight on complex cases of application in the field of tissue engineering and regenerative medicine. Chapters feature contributions from leaders in stem cell therapy and biology, providing a comprehensive view of the application of gene therapy in numerous fields with an emphasis on ophthalmology, stem cells, and agriculture. The book also highlights recent major technological advances, including ZFN, TALEN, and CRISPR. Precision Medicine, CRISPR, and Genome Engineering is part of the highly successful Advances in Experimental Medicine and Biology series. It is an indispensable resource for researchers and students in genetics as well as clinicians.

Written by 30 authors from all over the world, this book provides a unique overview of exciting discoveries and surprising developments in human genetics over the last 50 years. The individual contributions, based on seven international workshops on the history of human genetics, cover a diverse range of topics, including the early years of the discipline, gene mapping and diagnostics. Further, they discuss the status quo of human genetics in different countries and highlight the value of genetic counseling as an important subfield of medical genetics.

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 detailed volume describes a spectrum of methods and protocols that can be used for the bench-to-bedside development and evaluation of retinal gene therapy. Methods for the successful delivery of these gene therapy vector systems to the retina are examined, as well as assays to test the efficacy in vitro in cell cultures, for gene augmentation and gene editing in vivo on rodents, pigs, and monkey retinas, and on human retinal explants as well as in human clinical studies. Written for the highly successful Methods in Molecular Biology series, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and practical, Retinal Gene Therapy: Methods and Protocols provides a wide range of readers from students to research experts with vital information on ocular gene therapy vector technology, in vitro and in vivo biological assays, and clinical protocols, to promote further studies for the benefit of children and adults with inherited retinal disease.

The present volume of Epigenetics and Human Health is devoted to the patho-epigenetics of viral and microbial infections, an exiting new field of disease-related epigenetic research. As recognized during the past years, epigenetic reprogramming of pathogen and host genome functions - the latter frequently induced by pathogens - plays an important role in many infectious processes. Beyond their immediate relevance for pathogen proliferation and obligatorily associated symptoms, such alterations frequently contribute to severe additional complications, such as the development of immunodeficiency, cancer and various chronic disorders. This holds in particular for epigenetic dysregulation of host gene expression induced by latent infections. The present book summarizes current knowledge of the mechanisms underlying epigenetic changes caused by viral, bacterial, fungal and protozoan infections and their impact on human health.

This volume is a collection of miRNA detection and target identification protocols, detailing new developments in the traditional detection approaches such as northern blot, quantitative real-time PCR, array, next generation sequencing, and in situ hybridization. The chapters in MicroRNA Detection and Target Identification: Methods and Protocols guide readers through novel approaches such as nanotechnology, microfluidics, based detection methods, analysis of serum and urinary, miRNAs as biomarkers, target identification and experimental 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 practical, MicroRNA Detection and Target Identification: Methods and Protocols aims to ensure successful results in the further study of this vital field.

This book provides a cutting-edge review of polyglutamine disorders. It primarily focuses on two main aspects: (1) the mechanisms underlying the pathologies' development and progression, and (2) the therapeutic strategies that are currently being explored to stop or delay disease progression. Polyglutamine (polyQ) disorders are a group of inherited neurodegenerative diseases with a fatal outcome that are caused by an abnormal expansion of a coding trinucleotide repeat (CAG), which is then translated in an abnormal protein with an elongated glutamine tract (Q). To date, nine polyQ disorders have been identified and described: dentatorubral-pallidoluysian atrophy (DRPLA); Huntington's disease (HD); spinal-bulbar muscular atrophy (SBMA); and six spinocerebellar ataxias (SCA 1, 2, 3, 6, 7, and 17). The genetic basis of polyQ disorders is well established and described, and despite important advances that have opened up the possibility of generating genetic models of the disease, the mechanisms that cause neuronal degeneration are still largely unknown and there is currently no treatment available for these disorders. Further, it is believed that the different polyQ may share some mechanisms and pathways contributing to neurodegeneration and disease progression.

Should parents aim to make their children as normal as possible to increase their chances to "fit in"? Are neurological and mental health conditions a part of children's identity and if so, should parents aim to remove or treat these? Should they aim to instill self-control in their children? Should prospective parents take steps to insure that, of all the children they could have, they choose the ones with the best likely start in life? This volume explores all of these questions and more. Against the background of recent findings and expected advances in neuroscience and genetics, the extent and limits of parental responsibility are increasingly unclear. Awareness of the effects of parental choices on children's wellbeing, as well as evolving norms about the moral status of children, have further increased expectations from (prospective) parents to take up and act on their changing responsibilities. The contributors discuss conceptual issues such as the meaning and sources of moral responsibility, normality, treatment, and identity. They also explore more practical issues such as how responsibility for children is practiced in Yoruba culture in Nigeria or how parents and health professionals in Belgium perceive the dilemmas generated by prenatal diagnosis.

This detailed volume focuses on population epigenetics, which is of increasing interest to policy makers searching for explanations for complex epidemiological observations and conceptual models on which to base interventions. With a concentration on DNA methylation, the emphasis is on the most commonly studied epigenetic phenomenon that is most amenable to further study. Written for the highly successful Methods in Molecular Biology series, 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 practical, Population Epigenetics: Methods and Protocols aims to aid population researchers in exploiting the latest insights into epigenetics to improve our understanding of the factors that influence human health and longevity.

This second edition explores up-to-date tools in various function-based technologies currently used in metagenomics. The chapters in this book discuss all of the working steps involved in these technologies, such as: DNA isolation from soils and marine samples followed by the construction and screening of libraries for diverse enzymes and biomolecules; current methods used to isolate DNA and construct large- and small-insert libraries from terrestrial and marine habitats; methods for establishing metagenome libraries in none-E.coli hosts; new molecular tools used for function-driven mining of metagenomic DNA; and screening protocols for a wide array of different genes encoding enzymes with relevance to biotechnology and ecology. Metagenomics: Methods and Protocols, Second Edition also provides detailed screening protocols for phosphatases, poly-hydroxyalkanoate, metabolism-related enzymes, stereoselective hydrolases, and microbial signals for the discovery of secondary metabolites. 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. Comprehensive and cutting-edge, Metagenomics: Methods and Protocols, Second Edition is a collection of up-to-date metagenome protocols and tools for the recovery of numerous major types of biocatalysts, and allows researchers to easily setup these screens in any microbiology laboratory.

This unique book explores the role of retrotransposons in human health and disease. The ability of retrotransposons to affect the structure of human genes is recognized since the late 80's. However, the advances of deep-sequencing technologies have shed new light on the extent of retrotransposon-mediated genome variations. These progresses have also led to the discovery that retrotransposon activity is not restricted to the germline - resulting in inheritable genetic variations - but can also mobilize in somatic tissues, such as embryonic stem cells, neuronal progenitor cells, or in many cancers. This book covers topics related to the effects of retrotransposon insertions, and their consequences on germline and somatic genome dynamics, but also discuss the role and impact of retrotransposons sequences in a broader context, including a number of novel topics that emerged recently (long non-coding RNA, neuronal disorders, exaptation) with unexpected connections between retrotransposons, stem cell maintenance, placentation, circadian cycles or aging.

Heat Shock Proteins and Plants provides the most up-to-date and concise reviews and progress on the role of heat shock proteins in plant biology, structure and function and is subdivided into chapters focused on Small Plant HSPs (Part I), Larger Plant HSPs (Part II) and HSPs for Therapeutic Gain (Part III). This book is written by eminent leaders and experts from around the world and is an important reference book and a must-read for undergraduate, postgraduate students and researchers in the fields of Agriculture, Botany, Crop Research, Plant Genetics and Biochemistry, Biotechnology, Drug Development and Pharmaceutical Sciences.

This volume focuses on the use of system genetic methods and the use of murine models to study the role of gene variants and environmental factors on human health and disease-what is now often called personalized or precision health care. The protocols in this book will help readers analyze genetic causes of heritable variation across a wide range of systems and traits using rodent models. The chapters in this book are separated into three sections that cover: 1) resources for systems genetics; 2) tools for analysis and integration in systems genetics; and 3) systems genetics use cases. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and tools, step-by-step, readily reproducible protocols, and tips on troubleshooting and avoiding known pitfalls. Practical and thorough, Systems Genetics: Methods and Protocols is a valuable resource for anyone who is interested in this diverse field.

This book explores the major cytokines, such as IL-1 and IFN- , with respect to the regulation of their gene expression and protein production in specific immune cell types. It discusses both healthy physiological settings and in pathological situations in which the expression of some cytokines could be dysregulated, resulting in either immunodeficiency or exacerbated inflammatory sequelae in animal models as well as in human patients. Cytokines are important regulators of immune responses that require the highly coordinated participation and communication of multiple cell types. The expression of cytokines by various producer cell types is therefore carefully regulated in response to environmental cues at multiple levels: transcription, translation and posttranslational modification. Presenting cutting-edge advances in our understanding of the regulation of cytokine expression, this book is a valuable resource for anyone involved or interested in immune regulation.