This book will describe the nuclear encoded genes and their expressed proteins of mitochondrial oxidative phosphorylation. Most of these genes occur in eukaryotic cells, but not in bacteria or archaea. The main function of mitochondria, the synthesis of ATP, is performed at subunits of proton pumps (complexes I, III, IV and V), which are encoded on mitochondrial DNA. The nuclear encoded subunits have mostly a regulatory function. However, the specific physiological functions of the nuclear encoded subunits of complexes I, III, IV, and V are mostly unknown. New data indicates that they are essential for life of higher organisms, which is characterized by an adult life without cell division (postmeiotic stage) in most tissues, after the juvenile growth. For complex IV (cytochrome c oxidase) some of these subunits occur in tissue-specific (subunits IV, VIa, VIb, VIIa, VIII), developmental-specific (subunits IV, VIa, and VIIa) as well as species-specific isoforms. Defective genes of some subunits were shown to induce mitochondrial diseases. Mitochondrial genes and human diseases will also be covered.

This book discusses the molecular, biological, pathological, and clinical aspects of melanoma, with special emphasis in the new concepts of melanoma genetics. A multidisciplinary group of experts in Genetics, Dermatology, Pathology, and Melanoma Medical Oncology contribute state-of-the-art knowledge in melanoma research and clinical management, not only exposing the current status of knowledge of the topics but also providing their personal experiences and ideas about the future and potential practical application of the genetic aspects of melanoma. During the last few years we have witnessed an impressive amount of discoveries in the field of melanoma genetics which have changed our approach in understanding the pathogenesis and treatment of this lethal disease. Genetics of Melanoma is a practical approach to melanoma genetic mechanisms and their application in the diagnosis and treatment of this malignancy. It is an essential source of updated information and a powerful tool for clinicians, pathologists, and basic scientists who wish to understand, apply, and investigate the multiple new aspects of melanoma genetics.

This volume details protocols for genetic, molecular, cytological, and bioinformatic methods for determining haplotypes. Haplotyping: Methods and Protocols guides readers through methods that directly type haploid cells, difficult-to-resolve gene families, high-resolution, short range haplotyping for targeted loci, and long-range haplotyping for whole chromosomes or genomes. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and practical Haplotyping: Methods and Protocols, aims to provide researchers with an overview of experimental methods for haplotyping.

This text explores the most recent advances in NGS instrumentation and data anlysis. It begins with a comprehensive description of current NSG platforms, their sequencing chemistries, instrument specifications, and general workflows and procedures. A separate chapter is dedicated to low-quanitity, single molecule sequencing technology. Further chapters explore the application of NSG technologies in various fields.

Lymphomas are lymphoid malignancies derived from B or T lymphocytes, and their study has been and still is paradigmatic for many aspects of cancer research. Lymphoma: Methods and Protocols presents and discusses key methods that are used in lymphoma research, partly specific for lymphoma research but often adaptable to the study of other cancers. By covering a broad variety of methods used in lymphoma research, this book will be of interest not only for hematologists, hematopathologists, and immunologists but also for scientists interested in other fields of cancer research as well as human genetics. 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 tips on troubleshooting and avoiding known pitfalls. Versatile and cutting-edge, Lymphoma: Methods and Protocols serves researchers studying human physiology with the ultimate goal of understanding and controlling these often terrible diseases.

In DNA Cloning and Assembly Methods, expert researchers in the field detail many of the methods which are now commonly used for DNA cloning and make cloning procedures faster, more reliable and also suitable for high-throughput handling. These include methods and protocols that are based on several mechanisms including type II and IIS restriction enzymes, single stranded annealing, sequence overlap, and recombination. With additional chapters on software programs that are suitable for primer design, a feature crucial for the functionality of the described methods. 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. Authoritative and practical, DNA Cloning and Assembly Methods seeks to provide scientist with a valuable and useful resource for wet lab researchers within life sciences.

In "RNA Mapping- Methods and Protocols" expert researchers in the field detail many of the methods which are now commonly used to study RNA. These include protocols for the consequence of the emerging interest in the characterization of cellular RNAs urged by their potential use as diagnostic biomarkers or therapeutic targets. In particular, the biological relevance of microRNAs in human physiology and disease development is highlighted in the 16 chapters focused on methods for their physical and functional mapping. 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.

Authoritative and practical, "RNA Mapping- Methods and Protocols" provides instruction and inspiration for scientists who are facing the challenges of the discovery and/or functional characterization of RNA molecules for a wide variety of applications ranging from novel biomedical diagnostics to therapeutics and biomaterials.

In DNA Electrophoresis: Methods and Protocols, expert researchers in the field detail many of the methods which are now commonly used to study DNA using electrophoresis as the major approach. A powerful tool that allows separating DNA molecules according to their size and shape, this volume includes methods and techniques such as 2-dimentional gel electrophoresis as the major approach. These include methods and techniques such as 2-dimentional gel electrophoresis, DNA electrophoresis under conditions in which DNA molecules are completely or partially denatured during the runs, Pulse Field Gel Electrophoresis, electrophoresis coupled to fluorescence in situ hybridization, as well as protein-DNA interactions studied using electrophoreses. 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. Authoritative and practical, DNA Electrophoresis: Methods and Protocols aids scientists in continuing to study DNA dynamics both in live cells and in test tubes.

Arab populations have their "own" genetic disorders, both universal and particular. Genetic diversity within these source populations, along with the fact that the rates of inbreeding are often high and family sizes are often large, constitute conditions that facilitate the emergence and detection of phenotypes explained notably by autosomal recessive inheritance; in which case, the use of homozygosity gene mapping can facilitate the discovery of the corresponding genes. The present book includes 5 parts dealing with various aspects that relate to the genetic structure of Arabs and minorities within the Arab world as well as genetic disorders prevalent in this part of the world. It includes updated reviews of the genetic disorders in various Arab countries and geographic regions. The focus is primarily, but not exclusively, on the group of single-gene disorders with particular emphasis on autosomal recessive conditions. It further includes epidemiological and clinical data as well as inheritance patterns, mutation and polymorphism data, and available haplotype analysis data. The ethnic and genetic diversity of the Arab populations is discussed as well as aspects of genetic counseling practice in this region together with a proposal for an ethical framework for genetic research and prevention of genetic disorders. The target audience of this book includes human and medical geneticists, genetic counselors, researchers, medical specialists dealing with Arab patients or practicing in Arab countries, medical and genetic counseling students, and nurses.

Cell Therapy: cGMP Facilities and Manufacturing is the source for a complete discussion of facility design and operation with practical approaches to a variety of day-to-day activities, such as staff training and competency, cleaning procedures, and environmental monitoring. This in-depth book also includes detailed reviews of quality, the framework of regulations, and professional standards. It meets a previously unmet need for a thorough facility-focused resource, Cell Therapy: cGMP Facilities and Manufacturing will be an important addition to the cell therapy professionala (TM)s library.

Additional topics in Cell Therapy: cGMP Facilities and Manufacturinga ]

• Standard operating procedures
• Supply management
• Facility equipment
• Product manufacturing, review, release and administration
• Facility master file

As functional genomics has become one of the major focuses in molecular biology, the need for more sophisticated tools to assist in the identification of the functionality of undefined genes and the correlation of DNA variants with a particular phenotype has increased greatly. In Silico Tools for Gene Discovery collects many common and useful in silico tools available today. The volume begins by investigating locus mapping information on linkage analysis, association mapping, integrative analysis, and exome analysis as well as tools for DNA marker selection, in silico PCR, and statistical analysis. It continues with a section on gene discovery from a defined locus, including gene prioritization, knowledge tracking, and data mining, and concludes with several useful in silico tools presented for the functional characterization of genes, which include DNA sequencing analysis, variant characterization, as well as RNA and protein analysis. Written in the highly successful Methods in Molecular Biology (TM) series format, chapters include introductions to their respective topics, step-by-step, readily reproducible protocols, and vital notes on troubleshooting and avoiding known pitfalls. Resourceful and easy to follow, In Silico Tools for Gene Discovery seeks to facilitate scientists with further key research on locus mapping, to accelerate gene identification, and to help ascertain the functionality of DNA variation.

This volume provides current methods and protocols for gene and protein delivery based on both lentivirus-generated and spontaneously released nanovesicles. Lentiviral Vectors and Exosomes as Gene and Protein Delivery Tools guides readers through methods on macromolecule delivery and chapters describe the LV-based protocols of gene engineering. 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, Lentiviral Vectors and Exosomes as Gene and Protein Delivery Tools aims to ensure successful results in the further study of this vital field.

The literature on recoding is scattered, so this superb book ?lls a need by prov- ing up-to-date, comprehensive, authoritative reviews of the many kinds of recoding phenomena. Between 1961 and 1966 my colleagues and I deciphered the genetic code in Escherichia coli and showed that the genetic code is the same in E. coli, Xenopus laevis, and guinea pig tissues. These results showed that the code has been c- served during evolution and strongly suggested that the code appeared very early during biological evolution, that all forms of life on earth descended from a c- mon ancestor, and thus that all forms of life on this planet are related to one another. The problem of biological time was solved by encoding information in DNA and retrieving the information for each new generation, for it is easier to make a new organism than it is to repair an aging, malfunctioning one. Subsequently, small modi?cations of the standard genetic code were found in certain organisms and in mitochondria. Mitochondrial DNA only encodes about 10-13 proteins, so some modi?cations of the genetic code are tolerated that pr- ably would be lethal if applied to the thousands of kinds of proteins encoded by genomic DNA.

Carbohydrate microarrays emerged as a key technology for the deciphering of the glycospace by providing a multiplex technology where tens to hundreds of carbohydrates/protein interactions can be probed in parallel. Carbohydrate Microarrays: Methods and Protocols aims to give the reader the theoretical and experimental clues necessary for the fabrication and implementation of carbohydrate microarrays. This requires three essential steps: 1) to obtain the carbohydrate probes (monosacharides, oligosacchrides, polysacchairdes, glycoconjugates or glycoclusters), 2) to immobilize these probes, and 3) to implement the protocols for biological/biochemical interaction with the desired target. This volume gives an overview of carbohydrate microarray and carbohydrate chemistry and illustrates different detection techniques and their applications. Written in the 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 protocols, and notes on troubleshooting and avoiding known pitfalls. Authoritative and easily accessible, Carbohydrate Microarrays: Methods and Protocols compiles a catalogue of protocols on carbohydrate microarrays to span the needs of researchers around the globe.

A concise, clear writing style and a detailed and rich coverage of topics are the reasons that students found the first edition of the book so engaging and useful.Riding on this wave, all chapters within the second edition of this popular book have been thoroughly updated and expanded, especially the human and animal materials. A wider range of animals is covered, including dogs and cats as well as farm animals. The use of cord blood for therapy, pre-implantation genetic diagnosis and animal cloning are also explored and dealt with.

MicroRNAs as the endogenous mediators of RNA interference have experienced an unprecedented career in recent years, highlighting their pathogenic, diagnostic and potential therapeutic relevance. Beside tissue microRNAs, they are also found in body fluids, most notably in blood. Significant differences of circulating microRNA levels have been found in various diseases, making them candidates for minimally invasive markers of disease, for example tumor malignancy. The book focuses on the potential diagnostic applicability of circulating microRNAs in various diseases and their potential biological significance.

Gene correction is a technology that gives us the tools for both repairing and mutating DNA, for discovering gene functions and for engineering new genetic variants. Gene Correction: Methods and Protocols provides a user friendly, detailed and up-to-date collection of strategies and methodologies utilized for generating specific sequence changes in the DNA of cells in the laboratory, while also tackling the major problems that the field of gene correction faces. This volume brings together many experts in the field of gene correction to disclose a wide and varied array of specific gene correction protocols for engineering mutations in DNA, for delivering correcting DNA to target cells, and for improving the accuracy and safety of the gene correction process. 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, Gene Correction: Methods and Protocols seeks to serve scientists of all backgrounds interested in the area of gene targeting/recombination/therapy.

The field of genetics is rapidly evolving and new medical breakthroughs are occurring as a result of advances in knowledge of genetics. This series continually publishes important reviews of the broadest interest to geneticists and their colleagues in affiliated disciplines.
The field of genetics is rapidly evolving and new medical breakthroughs are occurring as a result of advances in knowledge of genetics. This series continually publishes important reviews of the broadest interest to geneticists and their colleagues in affiliated disciplines.

Population genomics is a recently emerged discipline, which aims at understanding how evolutionary processes influence genetic variation across genomes. Today, in the era of cheaper next-generation sequencing, it is no longer as daunting to obtain whole genome data for any species of interest and population genomics is now conceivable in a wide range of fields, from medicine and pharmacology to ecology and evolutionary biology. However, because of the lack of reference genome and of enough "a priori" data on the polymorphism, population genomics analyses of populations will still involve higher constraints for researchers working on non-model organisms, as regards the choice of the genotyping/sequencing technique or that of the analysis methods. Therefore, "Data Production and Analysis in Population Genomics" purposely puts emphasis on protocols and methods that are applicable to species where genomic resources are still scarce. It is divided into three convenient sections, each one tackling one of the main challenges facing scientists setting up a population genomics study. The first section helps devising a sampling and/or experimental design suitable to address the biological question of interest. The second section addresses how to implement the best genotyping or sequencing method to obtain the required data given the time and cost constraints as well as the other genetic resources already available, Finally, the last section is about making the most of the (generally huge) dataset produced by using appropriate analysis methods in order to reach a biologically relevant conclusion. 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, advice on methodology and implementation, and notes on troubleshooting and avoiding known pitfalls.

Authoritative and easily accessible, "Data Production and Analysis in Population Genomics" serves a wide readership by providing guidelines to help choose and implement the best experimental or analytical strategy for a given purpose.

Over the past 10 years, work on acute promyelocytic leukemia (APL) has become the paradigm of translational research that began with the discovery of a recurrent chromosomal translocation, followed by the identification of the genes and proteins involved, finding their molecular functions in transcriptional control, establishing mouse models and culminating in the development of targeted therapy.

The CCN family of genes currently comprises six secreted proteins (designated CCN16 i.e., Cyr61/CCN1; ctgf/CCN2; Nov/CCN3; WISP1/CCN4; WISP2/CCN5, and WISP3/CCN6) showing a strikingly conserved primary structure, with four modules sharing partial identity with IGF binding proteins, Von Willebrand protein, thrombospondin and several matricellular proteins and growth factors. The current view is that CCN proteins modulate signaling pathways that involve regulatory components of the extracellular matrix. As such, they likely act as a central hub in the regulation of mitosis, adhesion, apoptosis, extracellular matrix production, growth arrest and migration of multiple cell types. The 5th international workshop on the CCN family of genes, that was held in Toronto in 2008 brought together scientists from around the world who have an interest in the biological roles of this emerging family of proteins. On an educational point of view, the workshop was a unique place for an efficient diffusion of scientific information. The present book comprises a series of selected manuscripts that are based on the original communications that were presented at the meeting by worldwide leaders in the field of CCN biology. All major aspects of CCN proteins biology in both normal and pathological conditions are covered in this volume, from structure-functions analysis up to the involvement of CCN proteins in complex physiological functions. In addition to reports that support the Yin-Yang concept of CCN proteins driving opposite effects on the same biological process, this book also comprises several contributions that point to CCN proteins as amenable targets for therapeutic manipulation of disease processes. Together with the special issue of Journal of Cell Communication and Signaling in which authors have extended on the original data presented at the meeting, the present Proceedings provide an instant picture and unique update of the state of the art in the CCN field.

Cytogenetic studies of malignancy have become an essential tool in the clinical management of cancer patients. Cancer Cytogenetics: Methods and Protocols presents eminently practical key cytogenetic and FISH techniques for every stage of diagnostic service. Experts in the field describe detailed cytogenetic analysis methods, fluorescence in situ hybridization and array methods currently being applied to investigate and diagnose different varieties of cancer. Written in the highly successful Methods in Molecular Biology series format, chapters contain introductions to their respective topics, lists of the necessary materials and reagents, and step-by-step, readily reproducible laboratory protocols. The authors of the various chapters have also provided extensive notes to guide individuals who are new to these methods through the pitfalls that bedevil all such testing.

Authoritative and accessible, Cancer Cytogenetics: Methods and Protocols serves as an ideal guide to scientists of all backgrounds, allowing them to either establish new techniques in their laboratories or find the different variations of standard methods helpful in improving their results.

This book presents recent methods for Systems Genetics (SG) data analysis, applying them to a suite of simulated SG benchmark datasets. Each of the chapter authors received the same datasets to evaluate the performance of their method to better understand which algorithms are most useful for obtaining reliable models from SG datasets. The knowledge gained from this benchmarking study will ultimately allow these algorithms to be used with confidence for SG studies e.g. of complex human diseases or food crop improvement. The book is primarily intended for researchers with a background in the life sciences, not for computer scientists or statisticians.

This volume explores the epigenetic alterations and their association with various human cancers. Considering one of human cancer as an example, individual chapters are focused on defining the role of epigenetic regulators and underlying mechanisms in cancer growth and progression. Epigenetic alteration including DNA methylation, histone modification, nucleosome positioning and non-coding RNAs expression are involved in a complex network of regulating expression of oncogenes and tumor suppressor genes and constitute an important event of the multistep process of carcinogenesis. Recent advances in the understanding of the epigenetic regulation and detailed information of these epigenetic changes in various cancers provide new avenues of advancements in diagnostics, prognostics, and therapies of this highly fatal disease.

Series:

Highly practical and clinically relevant

Ophthalmology series is indispensable for continuous education and advanced training

All editors with international reputation and contributing authors with expertise in their topics

Reader-friendly format: Well-structured text and design, quick and easy to read

Richly illustrated with numerous tables and color photos

Bridges the gap between primary literature and daily practice

Every 2nd year each subject is refreshed with timely information about the new development in the specialized field

This volume:

Appeals not only to Ophthalmologists, but also to Pediatricians

Gives quick and practical introduction to the most up-to date treatment options in pediatric ophthalmology

Only addresses new developments of the past 2 years

Covers 3 main topics: Genetics, Pediatrics and Neurophthalmology, while competing titles focus on one of these subspecialties

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