Intended for readers with a background in fertility medicine as well as those less familiar with IVF, this comprehensive work presents an update on preimplantation genetic testing to enable single embryo transfer (SET). An international cast of contributors explains the treatment sequence-from ovulation induction to luteal support-aiming to transfer only one euploid embryo. Applications of molecular techniques for gamete and embryo assessment are fully detailed, with a focus on the strengths and limitations of each. In addition, expert commentary is shared across a range of regulatory challenges associated with embryo screening and cryopreservation. As access to advanced reproductive technology increases against a sharper background of healthcare reform, clinicians, economists, bioethicists and legislators alike will find this new volume relevant and highly accessible.

The aim of this volume is to make computer programs for analyzing human genetic data more easily accessible to the beginner.Statistical Human Genetics: Methods and Protocols, Second Edition provides updated and new chapters detailing genetic terms, analysis software, and how to interpret the program outputs. Written in the highly successful Methods in Molecular Biology series format, the chapters include introductions to their respective topics, step-by-step instructions, and tips on troubleshooting and avoiding known pitfalls. The purpose of Statistical Human Genetics: Methods and Protocols, Second Edition is to ensure successful and meaningful results in the fast-growing field of genetic epidemiology.

This book explores critical principles and new concepts in bioengineering, integrating the biological, physical and chemical laws and principles that provide a foundation for the field. Both biological and engineering perspectives are included, with key topics such as the physical-chemical properties of cells, tissues and organs; principles of molecules; composition and interplay in physiological scenarios; and the complex physiological functions of heart, neuronal cells, muscle cells and tissues. Chapters evaluate the emerging fields of nanotechnology, drug delivery concepts, biomaterials, and regenerative therapy. The leading individuals and events are introduced along with their critical research. Bioengineering: A Conceptual Approach is a valuable resource for professionals or researchers interested in understanding the central elements of bioengineering. Advanced-level students in biomedical engineering and computer science will also find this book valuable as a secondary textbook or reference.

This issue of Recent Results in Cancer Research presents a comprehensive review of current understanding of chromosomal instability in cancer and of strategies to use this information for better treatment of patients with cancer. Cancer is a disease of the chromosomes, and chromosomal instability in cancer disrupts gene function by either inactivating tumor suppressor genes or activating growth-promoting oncogenes. The chromosomal basis for these aberrations is either translocations, which change the integrity of genes, or abnormal numbers of chromosomes, a condition referred to as aneuploidy, which results in abnormal gene expression levels. Such structural or numerical chromosomal aberrations are specific for distinct tumor entities. The degree of chromosomal instability and the degree of intratumor heterogeneity have profound consequences for disease outcome and for therapeutic stratification.

Stem cells hold great promise for cell therapy, tissue engineering, regenerative medicine and pharmaceutical and biotechnological applications. This book highlights the potency of stem cells, their property of self-renewal and their ability to differentiate into different cell lineages. It further describes the different markers to identify stem cells, sources, methods of isolation, culture including 2D, 3D and beyond and their cryopreservation. This is among the first books to discuss glycosylation and sialylation in stem cells. Chapters describe application of stem cells in regenerative medicine and therapy, and highlight their application in cancer therapy and spinal cord injury. The book talks about the important patents on stem cells. The book also highlights the plant stem cells, discussing their pluoripotent nature, role in organ regeneration after injury, specific stem cell niches, that signals to block differentiation studied in plants shoot, root, and vascular meristems, differentiation of plant stem cell, transcriptional regulation and epigenetic modification of plant stem cells. This book is exciting and cutting edge. It will be of great interest to doctors, students and researchers in the field of regenerative medicine, cancer , biotechnology and plant sciences.

This detailed volume examines bioinformatic and molecular biological methods useful to identify and to explore the functions of CpG islands, key navigation points to understand gene regulation in fundamental processes such as development and cell differentiation as well as in diseases like cancer. Beginning with a historical perspective and important properties of CpG islands, the book continues with sections on computational and wet lab methods related to the study of DNA methylation, and in-depth protocols for the analysis of CpG island functional features including epigenetic profiling and chromatin interactions. 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, CpG Islands: Methods and Protocols aims to provide readers with the information and methodologies necessary to continue to decipher how a genome's structure and organization contribute to regulate biological processes.

This book gives an in-depth overview on nuclear structure and function. It clearly shows that the epigenome and the three-dimensional organization of the nucleus are not independent properties. The intimate relationship between the location and the epigenetic modifications of gene loci is highlighted. Finally, it shows that the complex three-dimensional organization of the nucleus is not just of academic interest: The structure, composition and function of virtually all of the sub-nuclear compartments identified so far can be implicated to a list of human genetic diseases. Hence, a detailed elucidation of how these domains are assembled and function will provide new opportunities for therapeutic intervention in clinical practice.

In this volume expert researchers in the field detail many of the methods which are now commonly used to study RNA. These methods are presented as a guidebook to scientists who are experienced with RNA research and want to brush up on a new technique. 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. Thorough and intuitive, RNA-RNA Interactions: Methods and Protocols guides scientists investigating biological systems and studying RNA.

This volume aims to bring together a variety of protocols useful for DNA-based typing of blood cell antigens. Protocols range from simple approaches with low technical complexity to highly sophisticated modern developments. Written for the 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, Molecular Typing of Blood Cell Antigens summarizes contributions from leading scientist in the field DNA typing for blood cell antigens.

Up to date, easy to use, and rich with vibrant illustrations, Lippincott (R) Illustrated Reviews: Cell and Molecular Biology, 3rd Edition, provides a highly visual presentation of essential cell and molecular biology with a focus on topics related to human health and disease. This engaging approach incorporates all of the most popular features of the bestselling Lippincott (R) Illustrated Reviews series, including abundant full-color illustrations, chapter summaries, and review questions that link basic science to real-life clinical situations. The updated, versatile 3rd Edition can be used for a standalone cell biology course in medical, health professions, or other graduate and upper-level undergraduate programs; as a review for course and board exams; or in conjunction with other Lippincott (R) Illustrated Reviews for a seamless integrated course. UPDATED! Revised content throughout-including updated unit overviews and chapter summaries-helps students master the latest cell and molecular biology knowledge. UPDATED! Clinical Application boxes reinforce key concepts and enrich students' understanding and clinical application capability. More than 250 full-color, annotated illustrations clarify complex processes and simplify study. Online animations and interactive review questions strengthen comprehension and retention.

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.

This volume describes our current understanding of the biological role of visual and non-visual arrestins in different cells and tissues, focusing on the mechanisms of arrestin-mediated regulation of GPCRs and non-receptor signaling proteins in health and disease. The book covers wide range of arrestin functions, emphasizing therapeutic potential of targeting arrestin interactions with individual partners.

This volume presents a list of cutting-edge protocols for the study of CRISPR-Cas defense systems and their applications at the genomic, genetic, biochemical and structural levels. CRISPR: Methods and Protocols guides readers through techniques that have been developed specifically for the analysis of CRISPR-Cas and techniques adapted from standard protocols of DNA, RNA and protein biology. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and cutting-edge, CRISPR: Methods and Protocols provides a broad list of tools and techniques to study the interdisciplinary aspects of the prokaryotic CRISPR-Cas defense systems.

This book encompasses major progress and future directions in cytochrome P450 (P450) research. Included are contributions by pioneers in the discovery of P450, with chapters on the molecular and functional properties of P450 and cutting-edge applications knowledge from various fields. P450 research has its roots in metabolism, but the true beginning was in 1962 with the publication by Tsuneo Omura and Ryo Sato in "The Journal of Biological Chemistry "on their discovery of the cytochrome." "Following this groundbreaking study, over the last half-century, research has revealed that many forms of P450 exist in animals, plants and microorganisms. P450 research has expanded into many different fields including medicine, agriculture and biotechnology and has drawn the attention of industries for its bioengineering applications, such as drug development and creation of the blue rose . Also, research on nuclear receptors, which has grown out of research on the regulatory mechanisms of P450 genes, has become an important area in biology, medical science, pharmacology and clinical medicine for example, with recent developments in personalized medicines. This book will draw readers into the important and exciting world of P450 and will encourage young students and scientists in P450 research to continue expanding the field via new approaches."

Drosophila melanogaster (fruit fly) is a highly versatile model with a genetic legacy of more than a century. It provides powerful genetic, cellular, biochemical and molecular biology tools to address many questions extending from basic biology to human diseases. One of the most important questions in biology is how a multi-cellular organism develops from a single-celled embryo. The discovery of the genes responsible for pattern formation has helped refine this question and has led to other questions, such as the role of various genetic and cell biological pathways in regulating the process of pattern formation and growth during organogenesis. The Drosophila eye model has been extensively used to study molecular genetic mechanisms involved in patterning and growth. Since the genetic machinery involved in the Drosophila eye is similar to humans, it has been used to model human diseases and homology to eyes in other taxa. This updated second edition covers current progress in the study of molecular genetic mechanisms of pattern formation, mutations in axial patterning, genetic regulation of growth, and more using the Drosophila eye as a model.

Under the name of Frontotemporal Dementias (FTD) numerous hereditary and sporadic disorders are listed. FTD may take away speech and language, social skills and ethical judgement, wishes and will, empathy and emotions; it may also impair motor functions. FTD may affect men and women in midlife or during old age leading to the demolition of the uniqueness of the human mind. In the last decade of the 20th century and in the first two decades of the 21st century, progress in the understanding of clinical, neuropathological, biochemical, and genetic aspects of FTD has accelerated. The novel awareness about FTD has directed young generations of researchers toward the study of this complex group of disorders. This Volume has been formulated with the participation of some of the leading scientists who have contributed to the development of knowledge in the clinical and basic science arenas. It captures the current central elements that are relevant to an up-to-date understanding of causes and pathogenesis of multiple forms of FTD. The volume is an opus that represents a distillation of the work of many scientists and addresses the current directions in the study of one of the most complex groups of diseases. In view of its structure, the book could also be used as a textbook, that offers both a broad and deep analysis of major areas in FTD. This book, planned by the International Society for Frontotemporal Dementias, is distinctive as it opens a window to a wide landscape about the biology of FTD. Thus, the book represents a moment of reflection on the present state of our knowledge of FTD and a collective vision toward scientific progress. The authors of each chapter share their knowledge and vision aimed at reducing the suffering which is caused by FTD.

This stimulating analysis reviews the broad potential of animal models to foster a deeper understanding of human pathology, strengthen connections between genetic and behavioral studies, and develop more effective treatments for mental disorders. Widely-studied and lesser-used species are examined in models that capture features along the continuum of normative and pathological behavior. The models highlight genetic causes of core features, or endophenotypes, of developmental, internalizing, and externalizing disorders, as well as dementia. Expert contributors address questions ranging from how suitable species are chosen for study to the costs and benefits of using inbred versus outbred strains, and the effects of housing environment on subject animals. Larger issues addressed include how to evaluate the applicability of animal behavioral models to the human condition and how these models can harness emerging molecular technologies to further our understanding of the genetic basis of mental illness. Included in the coverage: Mating and fighting in Drosophila. Attachment and social bonding. Impulsivity in rodents and humans. Animal models of cognitive decline. Animal models of social cognition. Future directions for animal models in behavioral genetics. A detailed map of where this evolving field is headed, Animal Models of Behavior Genetics shows geneticists, molecular biologists, and cognitive neuroscientists paths beyond established concepts toward a more knowledgeable and collaborative future.

This book provides a review of the multitude of nucleic acid polymerases, including DNA and RNA polymerases from Archea, Bacteria and Eukaryota, mitochondrial and viral polymerases, and other specialized polymerases such as telomerase, template-independent terminal nucleotidyl transferase and RNA self-replication ribozyme. Although many books cover several different types of polymerases, no book so far has attempted to catalog all nucleic acid polymerases. The goal of this book is to be the top reference work for postgraduate students, postdocs, and principle investigators who study polymerases of all varieties. In other words, this book is for polymerase fans by polymerase fans.

Nucleic acid polymerases play a fundamental role in genome replication, maintenance, gene expression and regulation. Throughout evolution these enzymes have been pivotal in transforming life towards RNA self-replicating systems as well as into more stable DNA genomes. These enzymes are generally extremely efficient and accurate in RNA transcription and DNA replication and share common kinetic and structural features. How catalysis can be so amazingly fast without loss of specificity is a question that has intrigued researchers for over 60 years. Certain specialized polymerases that play a critical role in cellular metabolism are used for diverse biotechnological applications and are therefore an essential tool for research.

This books aims to provide an up-to-date guide to using recombinases in the laboratory. Chapters guide the reader through construction of transgenic animals, recombinase-mediated cassette exchange (RMCE), spatial control of recombinase expression and in vivo delivery approaches, immunohistochemistry and fluorescence-based phenotyping methods, biochemical methods, and recombinase-based production of minimal DNA vectors. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and cutting-edge, Site-Specific Recombinases: Methods and Protocols aims to serve as a valuable resource for working with recombinases, and inspires further creativity in the field.

Using both epidemiological and model organism approaches, we have gained new insights into the physiological and molecular aspects of aging, which has led to significant advancements in potential anti-aging strategies. Reviews on Biomarker Studies in Aging and Anti-Aging Research presents a series of reviews in various aspects of aging and age-related disease research along with several methods which have shown progress as potential anti-aging approaches. The book is aimed at researchers in the areas of aging and chronic disease, as well as to clinical scientists, physicians and major drug companies. It provides important information on disease mechanisms, and each chapter is presented in the context of the aging process, specific chronic diseases or different therapeutic areas.

This book presents an investigation of language contact, focusing on Northwestern China. It breaks down the barrier between human sciences and natural sciences in order to reconsider the diversity of languages on the basis of the latest research findings from genetics, linguistics, and other domains, offering valuable insights into when and how the divergence of languages and genes began and language and gene admixture and replacement occurred. The book focuses on language evolution between the border of Gansu and Qinghai Province in China, but the research doesn't neglect the area beyond China's northern borders. Manchu, a dying language belonging to the Tungusic group, is also studied to enhance our understanding of language replacement. This work is the result of a four-year collaboration between teams of geneticists and linguists in France and China.

PIWI-interacting RNAs (piRNAs) are the third and most-recently discovered group of silencing-inducible small RNAs in animals. PIWI-Interacting RNAs: Methods and Protocols provides the most recent methods and protocols for studying piRNAs in the gonads of a wide range of species, as well as in any other organs where piRNAs may be detected. Comprehensive high-throughput sequencing analysis of piRNAs in embryos, testes and ovaries of D. melanogaster, as well as in mouse and rat testes, has raised the profile of piRNAs and thus further accelerated piRNA studies. In addition to C. elegans, other model species such as Drosophila melanogaster, Arabidopsis thaliana and mice, along with cultured cell lines such as HeLa and Drosophila Schneider 2 (S2), and other such organisms have been used to address the fundamental questions of the biogenesis and functions of RNAi-triggering small non-coding RNAs. Written in the 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 protocols, and notes on troubleshooting and avoiding known pitfalls. Authoritative and easily accessible, PIWI-Interacting RNAs: Methods and Protocols seeks to serve both established researchers and newcomers to the field to progress towards the ultimate goal of understanding the mechanisms and actions of piRNAs.

Lynch syndrome (LS) is the most common cause of inherited colorectal cancer, a disease with a high mortality rate. An estimated 37,000 of diagnosed colorectal cancer cases worldwide are attributed to Lynch syndrome each year. Intensive cancer screening, with early initiation and frequent follow-up, can reduce colorectal cancer incidence and mortality in LS patients. This book provides an up-to-date overview on the genetic and epigenetic basis of Lynch syndrome. It evaluates clinical features of the disease and critically comments on molecular tools available for identifying mutations responsible for Lynch syndrome; in addition the importance of functional assays that can help clarify the clinical nature of identified mutations is also discussed. The book also focuses on challenges in genetic counselling of at-risk individuals and discusses related ethical issues. The purpose of the book is to give a concise knowledge base for the broader scientific and medical community, including genetic counselors, in order to improve awareness on the potential impact that the diagnosis of LS has on treatment, management and surveillance of LS patients.

This book focus on genetic diagnostics for Uniparental Disomy (UPD), a chromosomal disorder defined by the exceptional presence of a chromosome pair derived from only one parent, which leads to a group of rare diseases in humans. First the molecular and cytogenetic background of UPD is described in detail; subsequently, all available information of the various chromosomal origins and the latest findings on genotype-phenotype correlations and clinical consequences are discussed. Numerous personal reports from families with a child suffering from a UPD-induced syndrome serve to complement the scientific and clinical aspects. Their experiences with genetic counseling and living with a family member affected by this chromosomal aberration present a vivid picture of what UPD means for its victims.