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Twentieth Century Mouse Genetics: A Historical and Scientific Review provides a comprehensive examination of key advances in mouse genetics throughout the 20th century. Here Dr. Robert P. Erickson, a leader in the field, identifies the contributions of historic mouse genetics studies, and how those approaches and early discoveries are still shaping human genetics research and medical genetics today. In addition to historical overviews, the author provides researcher biographies and updates connecting historic research to ongoing advances. Past studies discussed use the T/t complex as an example and include the origins of mouse genetics, the synthesis of genetics and evolution, cytogenetics and gene mapping, population genetics and mutation research, immunogenetics, reproductive genetics, molecular cloning, X-inactivation and epigenetics, sex determination, and pharmacogenetics. Here researchers, students, and clinicians will find fresh inspiration to engage in human genetics research employing mouse models and to translate those findings to clinical practice. - Offers a comprehensive examination of key advances in mouse genetics throughout the 20th century - Includes updates connecting historic research to ongoing advances - Authored by a thought-leader in the field

This open access book offers the first comprehensive account of the pan-genome concept and its manifold implications. The realization that the genetic repertoire of a biological species always encompasses more than the genome of each individual is one of the earliest examples of big data in biology that opened biology to the unbounded. The study of genetic variation observed within a species challenges existing views and has profound consequences for our understanding of the fundamental mechanisms underpinning bacterial biology and evolution. The underlying rationale extends well beyond the initial prokaryotic focus to all kingdoms of life and evolves into similar concepts for metagenomes, phenomes and epigenomes. The book's respective chapters address a range of topics, from the serendipitous emergence of the pan-genome concept and its impacts on the fields of microbiology, vaccinology and antimicrobial resistance, to the study of microbial communities, bioinformatic applications and mathematical models that tie in with complex systems and economic theory. Given its scope, the book will appeal to a broad readership interested in population dynamics, evolutionary biology and genomics.

Much research has focused on the basic cellular and molecular biological aspects of stem cells. Much of this research has been fueled by their potential for use in regenerative medicine applications, which has in turn spurred growing numbers of translational and clinical studies. However, more work is needed if the potential is to be realized for improvement of the lives and well-being of patients with numerous diseases and conditions.This book series'Cell Biology and Translational Medicine (CBTMED)'as part of SpringerNature's longstanding and very successful Advances in Experimental Medicine and Biology book series, has the goal to accelerate advances by timely information exchange. Emerging areas of regenerative medicine and translational aspects of stem cells are covered in each volume. Outstanding researchers are recruited to highlight developments and remaining challenges in both the basic research and clinical arenas. This current book is the sixth volume of a continuing series.

This multivolume reference work addresses the fact that the well being of humankind is predicated not only on individuals receiving adequate nutrition but also on their genetic makeup. The work includes more than 100 chapters organized in the following major sections: Introduction and Overview; Epigenetics of Organs and Diseases in Relation to Diet and Nutrition; Detailed Processes in Epigenetics of Diet and Nutrition; Modulating Epigenetics with Diet and Nutrition; and Practical Techniques. While it is well known that genes may encode proteins responsible for structural and dynamic components, there is an increasing body of evidence to suggest that nutrition itself may alter the way in which genes are expressed via the process of epigenetics. This is where chemically imposed alteration in the DNA sequence occurs or where the functional expression of DNA is modulated. This may include changes in DNA methylation, non-coding RNA, chromatin, histone acetylation or methylation, and genomic imprinting. Knowledge regarding the number of dietary components that impact on epigenetic processes is increasing almost daily. Marshalling all the information on the complex relationships between diet, nutrition, and epigenetic processes is somewhat difficult due to the wide myriad of material. It is for this reason that the present work has been compiled.

For decades, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics into medical practice. With detailed coverage in contributions from over 250 of the world's most trusted authorities in medical genetics and a series of 11 volumes available for individual sale, the Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for medical students, residents, physicians, and researchers involved in the care of patients with genetic conditions. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly. This volume, Foundations, summarizes basic theories, concepts, research areas, and the history of medical genetics, providing a contextual framework for integrating genetics into medical practice. In this new edition, clinically oriented information is supported by full-color images and expanded sections on the foundations of genetic analytics, next generation sequencing, and therapeutics. With regular advances in genomic technologies propelling precision medicine into the clinic, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Seventh Edition bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for the health professionals and researchers. - Introduces genetic researchers, students, and health professionals to basic theories, concepts, research areas, and the history of medical genetics, offering a contextual framework for integrating genetics into medical practice - Completely revised and up-to-date, this new edition highlights traditional approaches and new developments in the field of medical genetics, including cancer genetics, genomic technologies, genome and exome sequencing, prenatal diagnosis, public health genetics, genetic counseling, and single-cell analysis for diagnosis - Includes color images supporting identification, concept illustration, and method processing - Features contributions by leading international researchers and practitioners of medical genetics

Human Reproductive and Prenatal Genetics presents the latest material from a detailed molecular, cellular and translational perspective. Considering its timeliness and potential international impact, this all-inclusive and authoritative work is ideal for researchers, students, and clinicians worldwide. Currently, there are no comprehensive books covering the field of human reproductive and prenatal genetics. As such, this book aims to be among the largest and most useful references available. Named a Highly Commended book in the Basic and Clinical Sciences by the British Medical Association. - Features chapter contributions from leading international scientists and clinicians - Provides in-depth coverage of key topics in human reproductive and prenatal genetics, including genetic controls, fertilization and implantation, in vitro culture of the human embryo for the study of post-implantation development, and more - Identifies how researchers and clinicians can implement the latest genetic, epigenetic, and –omics based approaches

Central dogma'was presented by Dr. Francis Crick 60 years ago. The information of nucleotide sequences on DNAs is transcribed into RNAs by RNA polymerases. We learned the mechanisms of how transcription determines function of proteins and behaviour of cells and even how it brings appearances of organisms. This book is intended for scientists and medical researchers especially who are interested in the relationships between transcription and human diseases. This volume consists of an introductory chapter and 14 chapters, divided into 4 parts. Each chapter is written by experts in the basic scientific field. A collection of articles presented by active and laboratory-based investigators provides recent advances and progresses in the field of transcriptional regulation in mammalian cells.

This third edition of Epstein's Inborn Errors of Development provides essays on pathways of development and thoughtful reviews of dysmorphic syndromes for which the causative gene has been identified. The authors of the chapters on each disorder have provided in depth analyses of the role of the gene in the relevant developmental pathway and the mechanism by which mutations in the gene cause the developmental pathology.

This book is about “Angiogenesis”. A process in which new vasculature is formed from pre-existing capillaries. Angiogenesis process is associated with the proliferation and growth of both physiologically normal and neoplastic tissues, through the formation of vascular supply, essential for delivering growth requirements such as oxygen and nutrients.The book describes more than 100 genes and their key regulatory functions in the context of normal healthy condition, disease and malignancy, cancer proliferation and progression. New insights into the role of angiogenesis and the therapeutic inhibition of its regulators are investigated, due to the great potential for exploitation in the development of a novel treatment for cancer.New scientists, junior researchers and biomedical science students will find this book an invaluable introductory reference to their insight about angiogenesis and angiogenic role of more than 100 angiogenes and their role in healthy, disease and malignant conditions.

Ten years ago a group of experts assembled in Chicago to develop a consensus on the management of conditions previously described as intersex. The consequences of this consensus have been far reaching, including a change in nomenclature, the development of greater collaboration across geographical boundaries, and a move towards greater involvement of patients and parents. Moreover, an international registry was established, as well as research and clinical networks. This book brings together a thorough overview on all these topics. Furthermore, the major technological advances in diagnostic genetic and biochemical capabilities over the past 10 years are outlined in detail. Offering a comprehensive update on various aspects of disorders of sex development (DSD), this book will be essential reading to all clinicians who are involved in delivering health care to patients with a DSD, as well as scientists involved in biomedical research related to DSD.

This book presents a comprehensive overview of pediatric thyroid diseases and thus provides a useful tool for clinical problem solving. Opinion leaders in the field present reviews on all relevant diseases of the hypothalamic-pituitary-thyroid axis. Sixteen chapters cover topics ranging from fetal thyroidology, congenital hypothyroidism, central hypothyroidism, inherited defects of thyroid hormone action, cell transport and metabolism to iodine deficiency, autoimmune thyroid disease and thyroid tumors. Written by clinicians, the chapters provide in-depth information and current guidelines for clinical problems encountered in pediatric thyroidology. As a unique feature, a case seminar collection for each chapter presents typical patient histories providing key learning points and key references for clinical problem solving in family medicine, pediatric endocrinology and medical genetics. Providing a succinct update on clinical pediatric thyroidology, this book is an essential tool for pediatric and adult endocrinologists, as well as for general practitioners, pediatricians and medical geneticists.

During vertebrate hematopoiesis many specialized cell types are formed with vastly different functions such as B cells, T cells, granulocytes, macrophages, erythrocytes and megakaryocytes. To tightly control the enormous proliferative potential of developing blood cells, an intricately balanced signaling and transcription network has evolved that ensures that the different cell types are formed at the right time and in the right numbers. Intricate regulatory mechanisms ensure that blood cells function properly and have a determined life span. Moreover, in the adaptive immune system, long-lived memory cells have evolved that ensure that when pathogens have been seen once they will never cause a problem again. In this book we will therefore make a journey from asking how more primitive organisms use the epigenetic regulatory machinery to balance growth with differentiation control towards digging deep into what controls the function of specialized cells of the human immune system. We will first discover that flies make blood but exist without blood vessels, why fish make blood cells in the kidney and which precise genetic circuitries are required for these developmental pathways. We will then learn the regulatory principles that drive the differentiation of mature blood cells from stem cells and what controls their function in mammals. In the process, we will find out what unites hematopoietic stem cells and endothelial cells. Finally, we will shed light on the molecular mechanisms that either alter hematopoietic cell differentiation or lead to the development of cells with impaired function.

When the first edition of this book was published in 1950, it predated the publication of the double-helical structure of DNA by three years. It is not, therefore, surprizing that nothing of the original book remains in the current edition. Indeed, such is the pace of change in the field of nucleic acids that less than 50% of material incorporated into the 1986 edition has been retained. The book aims at the advanced undergraduate and at graduates that are undertaking course work or requiring an in-depth background for their research. It also aims to provide the established scientist with a single text that permits updating across the whole field from DNA structure, replication and repair, through gene expression and its control to protein synthesis. Every chapter is accompanied by thorough referencing that enables the reader to evaluate personally the data and methodology that cannot be included in the text. In an attempt to keep this list within bounds, references are limited to about ten per page and, to accommodate the more recent literature, many of the older references have been left out in this latest edition.

Since the first successful transfer of an in vitro fertilised human egg in 1976, modern endocrinology, genetics, and assisted reproductive technologies have opened new frontiers of research with the aim to treat infertile women. In this workshop we set out to promote an interdisciplinary discussion between experts from various fields of basic, company-based and clinical research related to folliculogenesis and oocyte development. The aim of this workshop was to present, discuss and assess novel approaches in mammalian folliculogenesis and oocyte development that may have an impact on fertility/ infertility in the near or distant future. Key issues were the understanding of new modulators of folliculogenesis and regulators of cytoplasmic as well as meiotic oocyte maturation, modern technologies, the aging oocyte and pathogenetic mechanisms of infertility.

Our understanding of the mechanisms regulating gene expression, which determine the patterns of growth and development in all living organisms, ultimately involves the elucidation of the detailed and dy­ namic interactions of proteins with nucleic acids -both DNA and RNA. Until recently the commonly presented view of the DNA double helix­ as visualized on the covers of many textbooks and journals - was as a monotonous static straight rod incapable in its own right of directing the processes necessary for the conservation and selective reading of genetic information. This view, although perhaps extreme, was reinforced by the necessary linearity of genetic maps. The reality is that the biological functions of both DNA and RNA are dependent on complex, and sometimes transient, three-dimensional nucleoprotein structures in which genetically distant elements are brought into close spatial proximity. It is in such structures that the enzymatic manipulation of DNA in the essential biological processes as DNA replication, transcription and recombination are effected - the complexes are the mediators of the'DNA transactions'of Hatch Echols.

Following pioneering work by Harrison on amphibian limbs in the 1920s and by Saunders (1948) on the apical ridge in chick limbs, limb development became a classical model system for investigating such fundamental developmental issues as tissue interactions and induction, and the control of pattern formation. Earlier international conferences, at Grenoble 1972, Glasgow 1976,and Storrs, Connecticut 1982, reflected the interests and technology of their time. Grenoble was concerned with ectoderm-mesenchyme interaction, but by the time of the Glasgow meeting, the zone of polarizing activity (ZPA) and its role in control of patterning was the dominant theme. Storrs produced the first intimations that the ZPA could be mimicked by retinoic acid (RA), but the diversity of extracellular masrix ~olecules,particularly in skeletogenesis,was the main focus of attention. By 1990, the paradigms had again shifted. Originally, the planners of the ARW saw retinoic acid (as a possible morphogen controlling skeletal patterning), the variety of extracellular matrix components and their roles, and the developmental basis of limb evolution as the leading contemporary topics. However, as planning proceeded, it was clear that the new results emerging from the use of homeobox gene probes (first developed to investigate the genetic control of patterning of Drosophila embryos) to analyse the localised expression of'patterning genes'in limb buds would also be an important theme.

This volume contains the proceedings of the NATO ARW on'Biological Pattern Formation'held at Merton College, University of Oxford, on 27-31 August, 1992. The objective of the workshop was to bring together a select group of theoreticians and experimental biologists to present the latest results in the area of biological pattern formation and to foster interactiqn across dis- plines. The workshop was divided into 5 main areas: (i) limb development, (ii) Dictyostelium discoideum, (iii) Drosophila, (iv) cell movement, (v) g- eral pattern formation. We thank all the participants for their contributions, enthusiasm, and willingness to collaborate. There was a genuine, open, and extremely fru- ful interaction between the experimentalists and theoreticians which made the workshop a success. We also thank The Welcome Trust for providing additional funding. The local organization fell mainly on Denise McKittrick and Beverley Bhaskhare at the Mathematical Institute, Oxford, and Jeanette Hudson and the staff of Merton College. We greatly appreciate their help and patience. We also thank Jonathan Sherratt, Wendy Brandts and Debbie Benson for helping out in the conference and for providing a happy welcome to parti- pants on a typically cold, wet and windy English summer day.

Since the advent of the Human Genome Project, an increasing number of disease-causing genes have been discovered and, in some cases, genetic tests developed. However, this is only the first step. The second, much larger phase is the analysis of the total sequence. What does the rest of the DNA do? The answer to this question will be determined by computer prediction, expression profiling, and comparative genome analysis. Comparative Genomics covers such topics as identifying novel genes, determining gene function, control sequences, and developmental switches. The book aims to demonstrate how different approaches taken with model organisms, such as mutation studies, expression profiling of cDNAs, in situ localization of message and comparative genome analysis (both at the gene and nucleotide level) will aid in our understanding of the results coming out of the Human Genome Project and contribute significantly to our understanding of how genes function.

This work presents the most advanced discoveries from translational research laboratories directly involved in identifying molecules and signalling pathways that play an instrumental role in metastasis. In contrast to other works, conventionally focused on a single type of tumour, the various chapters in this book provide a broad perspective of the similarities and discrepancies among the dissemination of several solid malignancies. Through recurrent and overlapping references to molecular mechanisms and mediators, the readers will gain knowledge of the common ground in metastasis from a single source. Finally, an introductory chapter provides a clinical perspective of the problems presented by metastatic tumours for diagnosis and treatment. The work presented here is directed to researchers in tumour biology with a developing interest in metastatic dissemination as well as medical and graduate students seeking to expand and integrate the notions acquired in basic cancer biology and oncology courses.

Viruses, being obligatory parasites of their host cells, rely on a vast supply of cellular components for their replication, regardless of whether infection leads to cell death or to the state of persistence. Animal viruses are providing scientists with relatively simple models to study the molecular biology of genome replication and gene expression. Whereas viruses use, in general, pathways of macromolecular biosynthesis common to the host cell, they have a cunning ability to adopt unusual mechanisms of gene expression and gene replication, provided these special pathways offer an advantage in competition for cellular resources. Any study of viral gene expression and replication is likely to lead also to new insights in cellular metabolism. The discoveries of cis-acting regulatory elements in transcription, the phenomenon of splicing of pre­ mRNA, and cap-dependent and cap-independent initiation of translation may be cited as examples. In addition, animal virus genomes contain elements and encode proteins that are very useful for the design of vectors for gene cloning and expression in mammalian cells. Apart from the basic interest in their biology, viruses have gained notoriety, of course, because they are pathogens. Human animal viruses may cause diseases ranging from the deadly (AIDS) to the benign (common cold). All studies on animal viruses potentially lead to the development of tools for their control, be it through prevention by immunization or treatment with antiviral drugs. Finally, viruses have yielded invaluable reagents in molecular biology as, for example, the vaccinia virus vector for the expression of foreign genes.

Epigenetics is a rapidly expanding field in medical and biological research which concerns heritable traits that are not attributable to changes in the DNA sequence. Epigenetic mechanisms play key roles in many biological processes, and it has become clear that their disruption can gives rise to diverse pathologies in humans. Edited by preeminent experts, Sophie Rousseaux and Saadi Khochbin, this volume in the ‘Epigenetics and Human Health'series discusses the role of epigenetics in human reproduction

The neurofibromatoses are autosomal-dominant genetic disorders of the nervous system that primarily affect the development and growth of neural cell tissue. These disorders cause tumors to grow on nerves and produce other abnormalities such as skin changes and bone deformities. In recent years, the genes and mutations causing neurofibromatoses have been identified. The main types of neurofibromatoses, type 1 (NF1) and type 2 (NF2), have been shown to be distinctive disorders both clinically and genetically. More recently, allelic and non-allelic subtypes of NF1 have been defined as well as the NF2-related condition schwannomatosis. Many of the complex molecular mechanisms leading to the neurofibromatoses have been elucidated, resulting in a growing body of publications which are difficult to keep up with. This volume provides an important overview of recent findings on the neurofibromatoses. It focuses on the genetics and molecular biology underlying these diseases, but also covers their clinical features, diagnosis and treatment, stressing the need for interdisciplinary medical care. With contributions by the foremost investigators in the field, this timely book will appeal to geneticists, genetic counselors, pediatricians, neurologists and oncologists.

Hedgehog-GLI Signaling in Human Disease represents the first compilation of up-to-date reviews by top-level scientists in this important field of research. The chapters cover a wide spectrum of related interests, from the molecular bases of morphogen function, to human genetics to cancer research. The aim of the book is to disseminate information on this exciting field, to allow students, scientists and the public in general to gain access current information from research leaders and to provide a book that encompasses different aspects of research showing the fusion of basic research in model systems and medicine. This is a timely primer on how a system of cell communication, Hedgehog-GLI signaling, plays a critical role in human disease and thus provides the background for the development of novel and rational therapies.

Our goal has been aimed to do a molecular examination of these homeobox family members, which are differentially expressed during the early embryonic development and periimplantation. With this purpose, we would like to enrich our group of knowledge in the molecular reproduction, which helps to understand these natural or abnormal developmental phenomena, frequently caused by the pressure of the oocyte or the embryonic surroundings (Gandolfi et al. 2005). Because such stress conditions have been seen to drive placental defects, postnatal oversize or overweight (LOS), as well as organs failures in the offspring, still as adult diseases (Young et al. 1998). On this hand a lot of effects in the molecular biology could be related with these developmental mechanisms involved in the mammalian reproduction (McEvoy et al. 2001, 2003, Farin et al. 2006, Laurincik et al. 2003, Lonergan et al. 2003a, b, 2004, 2006, Wrenzycki et al. 2005b, Ecker et al. 2004). Many studies have been abundantly realized in the Homeobox mRNA and protein expression around implantation, as well as during primary differentiation events in the early mammalian development, also after blastocyst expansion, gastrulation, primitive streak formation, embryonic disk proliferation, organogenesis and limbogenesis (Beck et al. 1995, 1999, 2000, Charité et al. 1998, Chawengsaksophak et al. 1996, 1997, 2004, Deschamps et al. 1999, Manzanares and Krumlauf 2000). All these works have been focussed to determine the expression of Hox genes combination as well known as the Hox-code. This network appears to be very important in the spatial and temporal co- linearity during the early body patterning (Deschamps et al. 1999). Still, a lot of works have been directed on the mRNA and protein expression of the caudal members (Cdx) transcription factors as regulators of the Hox-gene expression among other genes, recently well reviewed by Deschamps and van Nes (2005) and Grier et al. (2005). The A-P patterning and the body-tissue identity of the mammalian embryo, as by others living beings, are directed by the interaction of the nuclear transcription factors as the homeodomain related proteins activity (van Nes et al. 2006, Pilon et al. 2006). The stress by surroundings appears to be highly related to placental and body-tissue development defects (Hall et al. 2005).

Gene regulation is an essential process in the development and maintenance of a healthy body, and as such, is a central focus in both basic science and medical research. Gene Regulation, Fifth Edition provides the student and researcher with a clear, up-to-date description of gene regulation in eukaryotes, distilling the vast and complex primary literature into a concise overview.

Genome Exploitation: Data Mining the Genome is developed from the 23rd Stadler Genetic Symposium. This volume discusses and illustrates how scientists are going to characterize and make use of the massive amount of information being accumulated about the plant and animal genomes. Genome Exploitation: Data Mining the Genome is a state-of-the-art picture on mining the Genome databases. This is one of the few times that researchers in both plants and animals will be working together to create a seminal data resource.

Disorders that affect tissue differentiation, organogenesis, and morphogenesis constitute a significant proportion of human hereditary diseases. Until very recently, however, their genetic causes and pathogenesis have been unknown. Now, with the elucidation of the molecular pathways that govern developmental processes and with advances in gene identification, the genetic bases of an increasing number of human disorders of development are being discovered and the links between genotype and phenotype established. This extraordinary volume is the first to present in-depth analyses of the human syndromes of abnormal morphogenesis for which the responsible genes have been identified. Following a series of introductory chapters on the general principles of developmental biology, developmental genetics, and the development of individual tissues or organ systems, more than one hundred clinical genetic disorders are considered. The clinical chapters are organized into sections by defined developmental pathways or gene families, and each section is preceded by a general overview. For each disorder the authors cover the disease-causing genes, the role of these genes in development as elucidated in model organisms, the human mutations that have been identified, and the developmental pathogenesis of the condition. Clinical descriptions, along with discussions of therapy and counseling, are provided. This book will be an invaluable resource for physicians, dentists, and other health professionals and for basic scientists interested in developmental processes and genetic perturbations that affect them. It is authoritative, clearly written, consistently organized, and attractively illustrated in color.

This text examines the relationship between DNA damage and repair, cellular senescence, genomic instability, and aging. The authors provide in-depth discussions of various types of DNA damage, the DNA repair network, and cellular responses to genetic damage to assess their impact on the modulation of aging processes and age-related diseases, includ

During the past five to ten years, a variety of tools has been developed in the disciplines of both gene engineering, and molecular and structural biology. Some of these advances have permitted scientists not only to identify and characterize genes, but also to target these genes by disruption, thus eliminating their function in living animals, and to det- mine the biological responses to altered gene products. This has particular significance in endocrine systems, in which feedback mechanisms between the hypothalamus, pi- itary, and end organs are critical in normal physiology. Interpretation of the physiological significance, or the site of action of specific molecules in this context, has been difficult prior to transgenic technology. Major advances have occurred specifically in the areas of growth and development, and of reproduction. Coupled with analysis of naturally occurring mutations in humans, the use of transgenic animals and in vitro systems has recently allowed endocrinologists to understand the importance of specific thyroid hormone receptor isoforms in vivo, the molecular basis for generalized resistance to thyroid hormones via mutations in the nuclear receptor, and mechanisms for suppressing gene transcription. Previously designated “orphan rec- tors,” such as steroidogenic factor-1, were demonstrated to have critical roles in dev- opment and reproduction. Other nuclear receptors—including those for thyroid hormone, estrogens, androgens, and progesterone—were shown to bind to coactivator and co- pressor proteins that modified their transcriptional activity, and contributed to the ce- specific effects of the hormones.

A timely collection of research papers by 18 leading scientists in the area of biochemical genetics of diabetes mellitus, these contributions focus on a well defined class of monogenic forms of the disease (i.e. MODYs 1-5) all caused by specific mutations or deletion of genes that control pancreatic beta-cell functions: HNF-4alpha (1), glucokinase (2), HNF-1alpha (3), IDX-1 (4) and HNF-1beta (5). This volume offers a historical perspective of MODYs, and it also contains contributions which deal with the fundamental questions of pancreas and liver development, critical for the understanding of the syndrome complex discussed. Attempts have been made to highlight results and concepts that may be relevant for understanding type-II diabetes in general, exemplified by contributions that connect the field of pancreatic islet cell biology and pathology with the newest findings in the area of insulin action, e.g. the role of the insulin receptor and insulin receptor substrates (IRS 1-3). Covering a broad and novel approach on the subject of MODYs, this book looks into the future of molecular genetic and biochemical research in this area. It is recommended reading for basic research scientists in the area of diabetes mellitus, academically oriented endocrinologists and clinical researchers.

This publication manifests that pediatric neurology nowadays has developed into a completely independent discipline within the field of neurology. Bearing this in mind, the book presents the most recent advances on many different aspects of child neurology. Contributions from well-known scientists from all over the world make this volume timely reading for all those involved in pediatric neurology and gives vital pointers to the future of this increasingly specialized field of study.