JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

This informative new book presents an accessible account of the development of medical genetics over the past 70 years, one of the most important areas of 20th, and now 21st, century science and medicine. Based largely on the author's personal involvement and career as a leader in the field over the last half century, both in the UK and internationally, it draws on his interest and involvement in documenting the history of medical genetics. Underpinning the content is a unique series of 100 recorded interviews undertaken by the author with key older workers in the field, the majority British, providing invaluable information going back to the very beginnings of human and medical genetics. Focusing principally on medically relevant areas of genetics rather than the underlying basic science and technological aspects, the book offers a fascinating insight for those working and training in the field of clinical or laboratory aspects of medical genetics, genomics and allied areas; it will also be of interest to historians of science and medicine and to workers in the social sciences who are increasingly attracted by the social and ethical challenges posed by modern medical genetics and genomics.

JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

This book presents the current state of knowledge on the origin and differentiation of cell lines involved in the development of the vertebrate male and female gonads with particular emphasis on the mouse. It also discusses the processes leading to the testis- and ovary-specific structures and functions. The individual chapters review the origin and differentiation of the somatic cells of the genital ridges; the formation and migration of primordial germ cells in mouse and man; the gonadal supporting cell lineage and mammalian sex determination; differentiation of Sertoli and granulosa cells; mesonephric cell migration into the gonads and vascularization; origin and differentiation of androgen-producing cells in the gonads; germ cell commitment to the oogenic versus spermatogenic pathway and the role of retinoic acid; ovarian folliculogenesis; control of oocyte growth and development by intercellular communication within the follicular niche; biology of the Sertoli cell in the fetal, pubertal and adult mammalian testis; mechanisms regulating spermatogonial differentiation; stem cells in mammalian gonads; the role of microRNAs in cell differentiation during gonad development; human sex development and its disorders; as well as methods for the study of gonadal development.

This volume focuses on defining the unique attributes of using the zebrafish cancer model for discovering important pathways and potential drug targets for the treatment of human cancers. Using the zebrafish model, the volume explores oncogene and tumor suppressor discovery, chemical genetic approaches, genomics, epigenetics, cancer imaging, and cell transplantation. Contributed chapters come from the most prominent laboratories working in this field, which provides a unique perspective on zebrafish models from a wide spectrum of the research community. In addition, the book offers a detailed analysis of the most current research in the area for specific zebrafish cancer models, including T cell leukemia, rhabdomyosarcoma, liver and pancreatic cancer, melanoma, neuroblastoma, germ cell tumors, and malignant peripheral sheath tumors. A chapter is also dedicated to the development and utilization of other piscine models of cancer. The compilation of chapters in the volume culminates into a comprehensive and definitive text on zebrafish and cancer, providing a much needed resource on the powerful attributes of the zebrafish model system.

This second edition expands upon the previous volume with new and updated chapters. Auditory and Vestibular Research: Methods and Protocols, Second Edition guides readers through protocols on cell culture, tissue engineering, nanotechnology, high-throughput screening, and physiology. Chapters on physiology cover techniques that include optical coherence tomography, patch clamping, and photostimulation of caged neurotransmitters. 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, Auditory and Vestibular Research: Methods and Protocols, Second Edition aims to ensure successful results in the further study of this vital field.

This book brings together and updates the latest information on the diversity of yeasts, their molecular features and their applications in the welfare of mankind. Yeasts are eukaryotic microfungi widely found in natural environments, including those with extreme conditions such as low temperatures, low oxygen levels and low water availability. To date, approximately 2,000 of the estimated 30,000 to 45,000 species of yeast on Earth, belonging to around 200 genera have been described. Although there are a few that are opportunistic human and animal pathogens, the vast majority of yeasts are beneficial, playing an important role in the food chain and in the carbon, nitrogen and sulphur cycles. In addition, yeasts such as Saccharomyces cerevisiae, Hansenula polymorpha and Pichia pastoris are used in expressing foreign genes to produce proteins of pharmaceutical interest. A landmark in biotechnology was reached in 1996 with the completion of sequencing of the entire S. cerevisiae genome, and it has now become a central player in the development of an entirely new approach to biological research and synthetic biology. The sequencing of genomes of several yeasts including Schizosaccharomyces pombe, Candida albicans and Cryptococcus neofromans has also recently been completed.

This book brings together many of the main conclusions of the European Concerted Action Programme on Genetic Hearing Impairment (HEAR). It is spilt into four sections, covering definitions, protocols, genotype/phenotype relationships and important websites.The section on definitions enables all those approaching the problems of Genetic Hearing Impairment from different backgrounds to communicate in the same language and understand what each is doing more clearly. The definitions are of Audiological, Vestibulogical, Epidemiological and Genetic terms, together with specific terms associated with particular craniofacial abnormalities.

The second section comprises protocols for the minimal set investigation of patients and their family members with genetic hearing impairment. Relatively little work has been done in the past on the balance of disorders which may be associated with Genetic Hearing Impairment and a protocol aiming to elucidate some of these factors in a relevant way has been defined. The final chapter in this section deals with how audiologists should relate to genetic laboratories in an attempt to reduce the confusion which has risen in this field in the past.

The third section is concerned with the relationship between genotypes and phenotypes in non-syndromal hearing impairment in the conditions in which the genes have so far been localised and in many cases identified.

The final section deals with the important websites within this field. The most important and the most visited is the Hereditary Hearing Loss website based on Antwerp and managed by Guy Van Camp and Richard Smith.

JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

An authoritative collection of recent breakthroughs in Parkinson's Disease (PD) research, Parkinson's Disease: Genetics and Pathogenesis spans key findings on the mechanisms of neurodegeneration and the role of specific genes that may lead to improved therapies for PD. The book reviews the major aspects of the disease including motoric and pathologic features, autonomic dysfunction, sleep disorders, and neuropsychiatric manifestations. It also provides an in-depth review of genetic considerations. With contributions by recognized experts on the topic, emphasis is placed on pathogenesis, experimental models, future therapeutic opportunities, and research trends affecting the field.

This volume provides protocols and procedures for determining and modeling RNA structure. Chapters guide the reader through protocols for RNA secondary structure prediction, single sequence modeling, Crumple, RNAstructure to model conserved secondary structures with multiple homologs, the prediction of bimolecular secondary structures with RNAstructure, STarMir, protocols for structure mapping, mapping data to constrain or restrain RNA secondary structure prediction with RNAstructure, unassigned NMR resonances, modeling protocols for Rosetta FARFAR, RNAComposer , ModeRNA, and MC-Fold. 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, RNA Structure Determination: Methods and Protocols aims to ensure successful results in the further study of this vital field.

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.

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 work provides a review of biological networks as a model for analysis, presenting and discussing a number of illuminating analyses. Biological networks are an effective model for providing insights about biological mechanisms. Networks with different characteristics are employed for representing different scenarios. This powerful model allows analysts to perform many kinds of analyses which can be mined to provide interesting information about underlying biological behaviors. The text also covers techniques for discovering exceptional patterns, such as a pattern accounting for local similarities and also collaborative effects involving interactions between multiple actors (for example genes). Among these exceptional patterns, of particular interest are discriminative patterns, namely those which are able to discriminate between two input populations (for example healthy/unhealthy samples). In addition, the work includes a discussion on the most recent proposal on discovering discriminative patterns, in which there is a labeled network for each sample, resulting in a database of networks representing a sample set. This enables the analyst to achieve a much finer analysis than with traditional techniques, which are only able to consider an aggregated network of each population.

JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

Spannende Einblicke in die Entdeckung der Doppelhelix Eine der bekanntesten Entdeckungen des 20. Jahrhunderts, die die Biologie grundlegend verandert hat, wird im Detail beschrieben Einfuhrung in die Geschichte der experimentellen Lebenswissenschaften in der ersten Halfte des 20. Jahrhunderts

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.

Population Genetics of Multiple Loci F. B. Christiansen University of Aarhus, Denmark "This is a very beautiful and powerful study of an area that Christiansen has dominated for many years." - Marcus Feldman, Stanford University, USA Population genetics thrives on the constant interaction between theoretical and empirical knowledge. In the first instance, population genetics was developed using one-locus, two-allele models for genetic variation. The simplicity of these models opened up theoretical developments in population and evolutionary genetics to biologists without specialist training in mathematics. Population genetics of multi-allelic loci is more complex and requires more mathematical insight, and its study is predominantly undertaken by mathematical biologists. Traditional formulations of multi-locus theory do not simplify by assuming two alleles per locus. In this elegant presentation the author provides a formulation of multi-locus population genetics that retains the simplicity of two-allele models.
* Provides an accessible and natural extension of classical population genetics to multiple loci
* Exposes the population genetic aspects of sexual reproduction
* Describes the complexity of evolutionary interactions among genes
* Provides the background for insight into the functioning of genetic algorithms applied in computer science
* Written by a world leader in the field
The book is divided into two main sections. Part I - Recombination and Segregation - includes coverage of random mating, inbreeding, migration and mixing. Part II - Selection - covers numerous phenomena involving natural selection including viability, fertility, mutation andmigration. The author has successfully presented the theory in a way that is intelligible to anyone with a reasonably good background in basic mathematics and is devoted to learning multiple loci population genetics. The text is primarily aimed at advanced undergraduate and postgraduate students and researchers interested in genetics and population biology. It is also essential reading for those working or researching in biomathematics and adaptive computing.

This book combines sex, race, health and genetics in a daring new theory. Written with accessible, direct prose, anecdotes, analogies, and examples from human and animal studies, it is sure to spark debate in a massive way.

Recent insight into the transcripts generated from the mammalian genome (i.e. the transcriptome) has revealed that transcription is a far more complex phenomenon than previously thought. In RNA: Methods and Protocols, expert researchers provide the procedures and methods used to describe the structure of messenger RNAs and non-coding RNAs that are transcribed by RNA polymerase II as the immediate gene products in mammalian cells. Focused on the structure of the RNA products of "gene X" and the mapping of proteins associated with these RNAs, the volume presents appropriate information for non-specialists in RNA biology. Written in the highly successful Methods in Molecular Biology (TM) series format, many chapters contain 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. Comprehensive and practical, RNA: Methods and Protocols views the transcriptional landscape with an appreciation for the role that proteins play in the processing and interpretation of genetic information in an attempt to further our crucial knowledge of the many products and sophisticated regulatory networks that result from it.

Caveolins are important structural proteins of Caveolae, small invaginations of the membrane. They have been shown to play an important role in the pathogenesis of multiple cancers. In this volume, we will mainly focus on the importance of Caveolin-1 in breast, prostate, lung, skin, colon, pancreatic and brain cancers with also a mention of the novel role of Caveolin-3 in breast cancer.

JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

Traditionally, genetics laboratory exercises at the university level focus on mono- and dihybrid crosses and phenotypic analysis-exercises under traditional time, materials, and process constraints. Lately, molecular techniques such as gene cloning, polymerase chain reactions (PCR), and bioinformatics are being included in many teaching laboratories-where affordable. Human chromosome analysis, when present at all, has often been restricted to simple identification of chromosomes by number, through the usual "cut-and-paste" method. Although several online karyotyping (chromosome identification) programs have become available, they are not meaningful for studying the dynamics of the chromosome system, nor do they help students understand genetics as a discipline. The software that accompanies this book has been shown to be an ideal tool for learning about genetics, which requires a combination of understanding, conceptualization, and practical experience.

With the detailed genomic information that is now becoming available, we have a plethora of data that allows researchers to address questions in a variety of areas. Genome-wide association studies (GWAS) have become a vital approach to identify candidate regions associated with complex diseases in human medicine, production traits in agriculture, and variation in wild populations. Genomic prediction goes a step further, attempting to predict phenotypic variation in these traits from genomic information. Genome-Wide Association Studies and Genomic Prediction pulls together expert contributions to address this important area of study. The volume begins with a section covering the phenotypes of interest as well as design issues for GWAS, then moves on to discuss efficient computational methods to store and handle large datasets, quality control measures, phasing, haplotype inference, and imputation. Later chapters deal with statistical approaches to data analysis where the experimental objective is either to confirm the biology by identifying genomic regions associated to a trait or to use the data to make genomic predictions about a future phenotypic outcome (e.g. predict onset of disease). As part of the Methods in Molecular Biology series, chapters provide helpful, real-world implementation advice.

As imaging technologies and approaches have evolved, the scope of certain imaging techniques has moved far beyond the production of purely illustrative images or appealing time-lapse movies to providing the scientist with a rich range of ways to measure and quantify the biological process and outcome of gene expression. In Imaging Gene Expression: Methods and Protocols, expert authors offer up-to-date approaches and protocols that scientists in the field have developed, which would benefit the broader scientific community. Divided in three convenient parts, this detailed book covers the output of a gene, namely the RNA molecules that are transcribed from the gene and the way by which these molecules can be tracked or quantified in fixed or living cells, protocols that focus on the gene, DNA, or chromatin, as well as a variety of ways by which nuclear processes intertwined with gene expression can be followed and quantified in living cells as well as approaches for studying several sub-nuclear structures found in eukaryotic cells. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective subjects, lists of materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and up-to-date, Imaging Gene Expression: Methods and Protocols will serve researchers working toward imaging in the context of complete organisms.