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Molecular mechanisms in nutritional epigenetics

The field of nutritional epigenetics/nutri-epigenetics has expanded significantly, shedding light on how environmentally-driven epigenetic pathways can be modulated through nutrition and eating habits. The book provides a comprehensive introduction to the various epigenetic mechanisms affected by dietary compounds and focuses on specific topics such as the relationship between diet and the gut microbiome, the impact of diet on cardiovascular disease and psychopathology and the role of diet in pregnancy.

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Molecular Genetic Pathology

Molecular Genetic Pathology presents up-to-date material containing fundamental information relevant to the clinical practice of molecular genetic pathology.

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Messenger RNA therapeutics

Focuses on the fundamentals and applications of messenger RNA (mRNA)-based therapeutics and discusses the strengths and key challenges of this emerging class of drugs. In the past 30 years, extensive research and technological development in many areas have contributed to the emergence of in vitro transcribed mRNA as a therapeutic that has now reached clinical testing. Formulations that protect the mRNA from nucleases and accelerate its cellular uptake, combined with improvements to the mRNA molecules themselves, have been critical advancements for mRNAs to become viable therapeutics. Though once regarded as a serious impediment, the transient nature of mRNA technology is now considered a major advantage in making mRNA therapies safe and, ultimately, a potential game changer in the field of medicine. This new book in the RNA Technologies series provides a state-of-the-art overview on the emerging field of mRNA therapeutics covering essential strategies for formulation, delivery, and application. It also reviews the promising role in cancer immunotherapy, respiratory diseases, and chronic HBV infection and discusses RNA vaccines in light of the current COVID-19 pandemic. mRNA-based approaches have great potential to revolutionize molecular biology, cell biology, biomedical research, and medicine.

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Medicina delletà prenatale : Prevenzione, diagnosi e terapia dei difetti congeniti e delle principali patologie gravidiche = Prenatal medicine: Prevention, diagnosis and therapy of congenital defects and the main pathologies of pregnancy

This text aims to respond to the actual need to bring together in a single and updated reference text notions and data from different backgrounds, all essential for optimal monitoring of pregnancy.

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Medical genetics and law : An international perspective

Essential resource to understanding the intersection of medical genetics and law. In a unique approach, it provides an overview on the biological principles of DNA basics and genetic inheritance linking the knowledge with the ethical and legal challenges presented by modern developments in genetics.

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Introduction to Epigenetics

This textbook leads the reader from basic concepts of chromatin structure and function and RNA mechanisms to the understanding of epigenetics, imprinting, regeneration and reprogramming. The textbook treats epigenetic phenomena in animals, as well as plants.

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I recettori dellangiotensina : Dalla biologia molecolare alla terapia con gli antagonisti recettoriali

Describes all the structural and functional characteristics of angiotensin receptors, with particular reference to their molecular and pharmacological properties. The therapeutic applications of AT1 receptor antagonists and the results obtained from large trials are also discussed, especially in arterial hypertension, heart failure, diabetic nephropathy and stroke.

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Human genetics : concepts and applications

Human genetics is about variation more than about illnesses, and increasingly about the common rather than about the rare. Once an obscure science or an occasional explanation for an odd collection of symptoms, human genetics is now part of everyday conversation. This book shows students how and why that is true.

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Heterogeneity in statistical genetics : How to assess, address, and account for mixtures in association studies

Heterogeneity, or mixtures, are ubiquitous in genetics. Even for data as simple as mono-genic diseases, populations are a mixture of affected and unaffected individuals. Still, most statistical genetic association analyses, designed to map genes for diseases and other genetic traits, ignore this phenomenon.In this book, we document methods that incorporate heterogeneity into the design and analysis of genetic and genomic association data. Among the key qualities of our developed statistics is that they include mixture parameters as part of the statistic, a unique component for tests of association. A critical feature of this work is the inclusion of at least one heterogeneity parameter when performing statistical power and sample size calculations for tests of genetic association.

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Hedgehog-Gli Signaling in Human Disease

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.

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Genomics in Endocrinology : DNA Microarray Analysis in Endocrine Health and Disease

Genomics in Endocrinology focuses on exciting new advances in endocrinology resulting from DNA microarray studies and includes a comprehensive introduction to the use of DNA microarrays in endocrinology. ​The volume provides the basis for further understanding of the usefulness of microarray analyses in endocrinology research.

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Genome editing in neurosciences

Innovations in molecular biology are allowing neuroscientists to study the brain with unprecedented resolution, from the level of single molecules to integrated gene circuits. Chief among these innovations is the CRISPR-Cas genome editing technology, which has the precision and scalability to tackle the complexity of the brain. This Colloque Médecine et Recherche has brought together experts from around the world that are applying genome editing to address important challenges in neuroscience, including basic biology in model organisms that has the power to reveal systems-level insight into how the nervous system develops and functions as well as research focused on understanding and treating human neurological disorders.

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Genetic testing in reproductive medicine

Illustrates the importance and significance of molecular genetic testing in reproductive disorders. The present book covers the genetic testing in various reproductive system anomalies, including disorders of sexual development, male infertility (Y deletions, autosomal mutations, sperm DNA fragmentation), female infertility (PCOS and POF), mitochondrial DNA testing for oocyte quality, recurrent pregnancy loss, pre-term birth, endometrial receptivity, prenatal genetic screening, reproductive carrier screening, preimplantation genetic screening, endometrial cancer, cervical cancer and other related reproductive health disorders. Microbiome testing and its contribution to genetic testing in reproductive medicine are also discussed. Covers ethical, moral and technical challenges in genetic testing in reproductive medicine. The book aims to set up a standard with regard to genetic testing in the reproductive medicine field, encourage further data generation, and provide food for thought in the areas of lacunae.

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GDPR and biobanking : Individual rights, Public interest and research regulation across Europe

This book focuses on the discrepancies in biobank research regulations that are among the most significant hurdles to effective research collaboration.

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Epigenome editing : Methods and protocols

This second volume details new and updated methods covering applications of epigenome editing. Chapters guide readers through general and topical reviews, DNA-binding devices, optimization of the effector domains, readout of epigenome marks, and approaches for delivery at the cellular and organismal level. 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.

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Epigenetics and chromatin

This book provides a state-of-the-art account of a few selected hot spots by scientists at the edge in this extremely active field. It puts special emphasis on two main streams of research. One is the role of post-translational modifications of proteins, mostly histones, on chromatin structure and accessibility.

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Encyclopedic Reference of Genomics and Proteomics in Molecular Medicine

This is the most authoritative and wide-ranging reference yet assembled on Functional Genomics (the systematic analysis and identification of genes and their function) and Proteomics (the study of the complex structures and functions of proteins) in the rapidly expanding field of Molecular Medicine. The two-volume reference work offers a comprehensive overview of the terms, topics and issues in both molecular biology and molecular medicine, with particular emphasis placed on the molecular causes of diseases. It provides up-to-the minute information about developments in the field, including pharmacogenetics and pharmacoproteomics, gene regulation and gene therapy. The Encyclopedic Reference of Genomics and Proteomics in Molecular Medicine is an invaluable tool for clinical scientists in academia and industry, and all who need fast and user-friendly access to key information in this dynamically developing field.

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DNA vaccines : Methods and protocols

Details practical procedures on the latest DNA vaccine technology. Chapters guide readers through methods and protocols on DNA vaccine design, the adjuvant influence, production and purification methodologies, delivery systems, and approaches of the influence of DNA vaccines in the immunological response performance and in the cancer immunotherapy. 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.

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Dilated Cardiomyopathy : From Genetics to Clinical Management

This book presents a comprehensive overview of dilated cardiomyopathy, providing readers with practical guidelines for its clinical management. The first part of the book analyzes in detail the disease’s pathophysiology, its diagnostic work up as well as the prognostic stratification, and illustrates the role of genetics and gene-environment interaction. The second part presents current and future treatment options, highlighting the importance of long-term and individualized treatments and follow-up.

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Data and Text Processing for Health and Life Sciences

This book is a step-by-step introduction on how shell scripting can help solve many of the data processing tasks that Health and Life specialists face everyday with minimal software dependencies. The examples presented in the book show how simple command line tools can be used and combined to retrieve data and text from web resources, to filter and mine literature, and to explore the semantics encoded in biomedical ontologies. To store data this book relies on open standard text file formats, such as TSV, CSV, XML, and OWL, that can be open by any text editor or spreadsheet application.

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