The rapid identification and characterization of genes of neurological relevance holds great potential for offering insight into the diagnosis, management, and und- standing of the pathophysiologic mechanisms of neurological diseases. This volume in the Methods in Molecular Biology (TM) series was conceived to highlight many of the contemporary methodological approaches utilized for the characterization of neu- logically relevant gene mutations and their protein products. Although an emphasis has been placed upon descriptions of methodologies with a defined clinical utility, it is hoped that Neurogenetics: Methods and Protocols will appeal not only to clinical laboratory diagnosticians, but also to clinicians, and to biomedical researchers with an interest in advances in disease diagnosis and the functional consequences of neu- logically relevant gene mutations. To meet this challenge, more than 60 authors graciously accepted my invitation to contribute to the 32 chapters of this book. Through their collective commitment and diligence, what has emerged is a comprehensive and timely treatise that covers many methodological aspects of mutation detection and screening, including disc- sions on quantitative PCR, trinucleotide repeat detection, sequence-based mutation detection, molecular detection of imprinted genes, fluorescence in situ hybridization (FISH), in vitro protein expression systems, and studies of protein expression and function. I would like to take this opportunity to formally thank my colleagues for their effort and dedication to this work.

During the past decade, geneticists have cloned scores of Mendelian disease genes and constructed a rough draft of the entire human genome. The unprecedented insights into human disease and evolution offered by mapping, cloning, and sequencing will transform medicine and agriculture. This revolution depends vitally on the contributions of applied mathematicians, statisticians, and computer scientists. Mathematical and Statistical Methods for Genetic Analysis is written to equip students in the mathematical sciences to understand and model the epidemiological and experimental data encountered in genetics research. Mathematical, statistical, and computational principles relevant to this task are developed hand in hand with applications to population genetics, gene mapping, risk prediction, testing of epidemiological hypotheses, molecular evolution, and DNA sequence analysis. Many specialized topics are covered that are currently accessible only in journal articles. This second edition expands the original edition by over 100 pages and includes new material on DNA sequence analysis, diffusion processes, binding domain identification, Bayesian estimation of haplotype frequencies, case-control association studies, the gamete competition model, QTL mapping and factor analysis, the Lander-Green-Kruglyak algorithm of pedigree analysis, and codon and rate variation models in molecular phylogeny. Sprinkled throughout the chapters are many new problems. Kenneth Lange is Professor of Biomathematics and Human Genetics at the UCLA School of Medicine. At various times during his career, he has held appointments at the University of New Hampshire, MIT, Harvard, and the University of Michigan. While at the University of Michigan, he was the Pharmacia & Upjohn Foundation Professor of Biostatistics. His research interests include human genetics, population modeling, biomedical imaging, computational statistics, and applied stochastic processes. Springer-Verlag published his book Numerical Analysis for Statisticians in 1999.

Only in recent times has the possibility of growing and implanting replacement teeth, made from one s own cells, moved into the realm of realistic possibilities; however, the molecular and cellular mechanisms of tooth development must be studied in a range of vertebrates, from zebrafish to mice, so that evolutionarily conserved network kernels, which will define the cellular states of generic vertebrate tooth development, can be recognized. In "Odontogenesis: Methods and Protocols," experts in the field examine techniques to approach this burgeoning field. This detailed volume includes chapters on the detection of tooth development gene expression, both at the RNA and protein level, current approaches to the manipulation of gene expression levels and subsequent analysis of tooth phenotypes, as well as chapters concerning current efforts to get living tooth implants working without waiting for a full understanding of the developmental pathways at the molecular 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 tips for troubleshooting and avoiding known pitfalls.

Practical and easy to use, "Odontogenesis: Methods and Protocols" aims to help researchers move forward toward the ultimate goal of getting a bioengineered tooth into the patient s mouth.

The FactsBook series has established itself as the best source of easily accessible and accurate facts about protein groups. Books in the series use an easy-to-follow format and are meticulously researched and compiled by experts in the field.
The Immunoglobulin FactsBook is the first published reference for all 203 human functional and ORF immunoglobulin genes. It is complete and standardized and employs nomenclature approved by the HUGO Nomenclature Committee.

No one wants to be sued. A lawsuit is an assault on one 's self-image, reputation, and livelihood. It is physically, mentally, and financially draining. The purpose of this book is (1) to provide genetic counselors with varying levels of experience and expertise with heightened awareness of the sources and processes of the law as it can affect their practice; (2) to offer them strategies for minimizing the potential for their being named in a lawsuit; and (3) to provide guidance for the management of current and emerging situations. This is the first book specifically addressing genetic counseling, as opposed to general healthcare risk management.

The tiny microRNAs (miRNAs) can have huge impacts on the regulation of a variety of genes and play crucial roles in the fundamental cellular processes. Recent miRNA studies change the landscape of cancer genetics by scrutinizing the alterations of genome-wide miRNA expressions in most common cancers and their regulatory functions during the development of cancer. The connections between miRNAs and cancer are widespread enough to warrant more comprehensive investigations in the systems biology perspective. In MicroRNA and Cancer: Methods and Protocols, internationally renowned experts provide the latest miRNA knowledge, the various techniques and methodologies currently available for cancer research application. Ranging from the fundamental concepts to practical applications, this book presents: * Overview of microRNA biogenesis, computational prediction of new miRNAs in the cancer genome, and miRNA-based therapeutic approaches for cancer treatment * Detailed experimental protocols in miRNA detection with novel and high-throughput technology, miRNA library cloning, miRNA epigenetic regulation, and miRNA pathway study * Stepwise computational and bioinformatic procedures for miRNA complex networks in cancer genomes with a variety of softwares and programs * Cross-cited notes on troubleshooting and avoiding known pitfalls Authoritative and cutting-edge, MicroRNA and Cancer: Methods and Protocols serves researchers with the basic principles of experimental and computational methods for microRNA study in cancer research and provides a firm grounding for those who wish to further develop their own applications and tailor them to their own specific research needs.

This volume details the most important methods used for studying prokaryotic non-coding RNAs and their protein accomplices. Chapters present methods in sections covering different aspects of the biology of that field: identification of ncRNAs, their differential expression, characterization of their structure, abundance, intracellular location and function, their interaction with RNA binding proteins, and plausible applications of ncRNA elements in the rapidly emerging field of synthetic 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, Bacterial Regulatory RNA: Methods and Protocols serves as a guidebook for scientists working toward the development of new tools and procedures for the vital field of sRNA biology.

The availability of powerful genome-wide association study technology, during the last five years, has shown that most of the "new" MS susceptibility loci are immune-response genes. It is clear that there is much novelty in the field of MS immunology, which has served as an impetus to invest in new therapies. Notably, most if not all of these are immunotherapies. Even the equally exciting field of cell-based therapies and neuro-regeneration may well rely on cells or growth factors that are no less immunomodulators than restorative of myelin and neural cell function. Multiple Sclerosis Immunology looks at MS immunology as the basis for the present and-even more-the future of treatments for this complex autoimmune condition. Both editors are immunologists, as well as clinical neurologists, and appreciate the importance of a sustained dialogue between basic and clinical scientists to ensure that "translation" is real and not just virtual.

This book will provide latest insights in the functional potentials of ribonucleic acids in medine and the use of Spiegelmer and Spiegelzyme systems. It will also deal with a new type of delivery systems for cellular targeting.

This volume presents a collection of computational and experimental protocols pertaining to the creation, characterization, and utilization of RNA nanostructures. The chapters in this book cover topics such as ion effects in RNA folding; design and crystallography of self-assembling RNA nanostructures; x-aptamer selection and validation; RNAi in HIV-infected cells; and preparation of a conditional RNA switch. 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. Cutting-edge and thorough, RNA Nanostructures: Methods and Protocols is a valuable resource for the design and production of RNA nanostructures. Researchers and scientists sharing these detailed protocols is important for sustained progress in the field.

It has become clear that tumors result from excessive cell proliferation and a corresponding reduction in cell death caused by the successive accumulation of mutations in key regulatory target genes over time. During the 1980s, a number of oncogenes were characterized, whereas from the 1990s to the present, the emp- sis has shifted to tumor suppressor genes (TSGs). It has become clear that oncogenes and TSGs function in the same pathways, providing positive and negative growth regulatory activities. The signaling pathways controlled by these genes involve virtually every process in cell biology, including nuclear events, cell cycle, cell death, cytoskeletal, cell membrane, angiogenesis, and cell adhesion effects. Mu- tions in tumor suppressor genes have been identified in familial cancer syndromes, and the same genes in many cases have been found to be mutationally inactivated in sporadically occurring cancers. In their normal state, TSGs control cancer development and progression, as well as contribute to the sensitivity of cancers to a variety of therapeutics. Understanding the classes of TSGs, the biochemical pa- ways they function in, and how they are regulated provides an essential lesson in cancer biology. We cannot hope to advance our current knowledge and to develop new and more effective therapies without understanding the relevant pathways and how they influence the present approaches to therapy. Moreover, it is important to be able to access not only the powerful tools now available to discover these genes, but also their links to cell biology and growth control.

Genetic susceptibility refers to how variations in a person 's genes increase or decrease his or her susceptibility to environmental factors, such as chemicals, radiation and lifestyle (diet and smoking). This volume will explore the latest findings in the area of genetic susceptibility to gastrointestinal cancers, focusing on molecular epidemiology, DNA repair, and gene-environment interactions to identify factors that affect the incidence of GI cancers. Topics will include germline susceptibility, including Mendelian patterns of inheritance and gene-environment interactions that lead to cancer etiology.

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

The field of microRNA biology is really emerging in the last couple of years. Several investigators highlighted the importance of miRNAs in cancer. Although there is so much literature on microRNAs exist, a comprehensive book is still not available. Thus this book will be a great use to the scientists in the field of cancer biology. In addition, this book will be a good source of information for undergraduate, graduate students who want to develop their research careers in cancer biology.

This volume contains state-of-the-art methods tackling all aspects of small non-coding RNAs biology. Small Non-Coding RNAs: Methods and Protocols guides readers through customized dedicated protocols and technologies that will be of valuable help to all those willing to contribute deciphering the numerous functions of small non-coding RNAs. Written in the highly successful Methods of 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 troubles troubleshooting and avoiding known pitfalls. Instructive and practical, Small Non-Coding RNAs: Methods and Protocols reaches out to biochemists, cellular and molecular biologists already working in the field of RNA biology and to those just starting to study small non-coding RNAs.

Nuclear Receptors and Genetic Disease provides the first compilation of the role of nuclear hormones in health and disease and incorporates the latest breakthroughs in the field. It provides comprehensive reviews of the major receptors prepared by the acknowledged experts in each area. Each chapter provides information on the history, physiology, structure, mechanism of action, genetics, pathophysiology, disease diagnosis, and disease treatment for a particular nuclear receptor. Each chapter also includes a table showing all the known mutations of the respective nuclear receptor with the corresponding clinical disorder.
Receptors included in this book are:
* The Nuclear Receptor Superfamily
* Thyroid Hormone Receptors
* Estrogen and Progesterone Receptors
* The Androgen Receptor
* DAX-1 and Related Orphan Receptors
* The Vitamin D Receptor
* Retinoid Receptors
* Mineralocorticoid and Glucocorticoid Receptors
* Hepatocyte Nuclear Factor 4 α
* Peroxisome Proliferator Activated Receptors
* Coactivators and Corepressors

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.

This comprehensive and definitive work succeeds and expands on the highly successful HLA and Disease published in 1994. This new edition has been updated, redesigned and reorganised into three sections making it an invaluable reference.
The introductory section summarises current knowledge on the structure, function, genetics and evolution of the HLA system. It clarifies its complex and ever changing nomenclature and discusses the mechanisms underlying disease associations with HLA alleles. The second section deals with the importance of HLA in the context of different clinical specialities. Individual chapters describe the association between HLA polymorphism and each disease. The final section features chapters on current laboratory practice in histocompatibility and tissue typing.
HLA in Health and Disease is essential reading for basic and clinical researchers working in immunology and immunogenetics, transplantation medicine and autoimmunity. It will also be of interest to anyone in the fields of rheumatology, diabetology, nephrology, allergy, dermatology, neurology, endocrinology, cancer biology, respiratory medicine, haematology, molecular biology and biochemistry.
Key Features
* Structure, function and genetics of HLA
* HLA nomenclature
* Evolution of HLA polymorphisms
* HLA associations in arthritis and rheumatology, renal disease, neurology, diabetes and endocrinology, gastroenterology, respiratory disease, ophthalmology, infections, dermatology and psychiatry
* HLA and organ transplantation
* Serological and PCR-based methods in HLA typing
* Cellular techniques in testing histocompatibility
* Edited and written by an international panel of experts in the field

microRNAs (miRNAs) are small non-coding RNAs that regulate various biological phenomena, such as development and homeostasis. The dysregulation of miRNA leads to disease progression, particularly of cancer. In Circulating MicroRNAs: Methods and Protocols, expert researchers in the field detail recent advances in the isolation, purification and analysis of circulating miRNAs from a variety of sources for research. The book is divided into three main topics. The first section involves the study of secretory miRNAs in cell-cell communication, and the second, the study of circulating miRNAs in body fluids. The last describes the novel techniques used to study circulating miRNAs. Written in the highly successful Methods in Molecular Biology (TM) series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and key tips on troubleshooting and avoiding known pitfalls. Authoritative and practical, Circulating MicroRNAs: Methods and Protocols seeks to aid scientists in dealing with the recent advances of RNAi technology from the bench to the bedside.

Oxidation is any reaction in which electrons are removed from a molecule, thus increasing the number of binding sites on the molecule that are able to react with other atoms and molecules.;This volume addresses oxidant-reduction or redox and antioxidant sensitive molecular mechanisms and how they are implicated in different disease processes. Recent work in this area has revealed that these mechanisms may be linked with different disease processes, such as immune response, cell proliferation, inflammation, metabolism, ageing and cell death. Possible strategies to pharmacologically and/or nutritionally manipulate such redox-sensitive molecular responses are emphasized.

This comprehensive text provides a much-needed review of a disease that is currently garnering the interest of molecular biologists, translational scientists, and clinicians. The volume includes emerging developments in the molecular genetics of endometrial carcinoma. In addition to covering the basic genetics of endometrial carcinoma, chapters also cover a wide range of signaling pathways implicated in endometrial carcinoma. A section of the book includes a number of genetically engineered mouse models, which contribute to understanding the role of various genetic alterations in the development and progression of endometrial carcinoma. These models also provide preclinical models for developing effective targeted therapeutic approaches. Endometrial carcinoma is the most common malignancy of the female genital tract in the United States and the number of cases continues to increase around the world. This book is a meant to serve as a resource for a wide range of scientists, from molecular geneticists to signal transduction biologists, as well as to both clinicians and scientists interested in developing targeted therapeutic approaches for women with endometrial carcinoma.