Human Molecular Genetics is an established and class-proven textbook for upper-level undergraduates and graduate students which provides an authoritative and integrated approach to the molecular aspects of human genetics. While maintaining the hallmark features of previous editions, the Fourth Edition has been completely updated. It includes new Key Concepts at the beginning of each chapter and annotated further reading at the conclusion of each chapter, to help readers navigate the wealth of information in this subject. The text has been restructured so genomic technologies are integrated throughout, and next generation sequencing is included. Genetic testing, screening, approaches to therapy, personalized medicine, and disease models have been brought together in one section. Coverage of cell biology including stem cells and cell therapy, studying gene function and structure, comparative genomics, model organisms, noncoding RNAs and their functions, and epigenetics have all been expanded.
Author: Tom Strachan,Andrew Read
Publisher: Garland Science
An Introduction to Human Molecular Genetics Second Edition Jack J. Pasternak The Second Edition of this internationally acclaimed text expands its coverage of the molecular genetics of inherited human diseases with the latest research findings and discoveries. Using a unique, systems-based approach, the text offers readers a thorough explanation of the gene discovery process and how defective genes are linked to inherited disease states in major organ and tissue systems. All the latest developments in functional genomics, proteomics, and microarray technology have been thoroughly incorporated into the text. The first part of the text introduces readers to the fundamentals of cytogenetics and Mendelian genetics. Next, techniques and strategies for gene manipulation, mapping, and isolation are examined. Readers will particularly appreciate the text's exceptionally thorough and clear explanation of genetic mapping. The final part features unique coverage of the molecular genetics of distinct biological systems, covering muscle, neurological, eye, cancer, and mitochondrial disorders. Throughout the text, helpful figures and diagrams illustrate and clarify complex material. Readers familiar with the first edition will recognize the text's same lucid and engaging style, and will find a wealth of new and expanded material that brings them fully up to date with a current understanding of the field, including: * New chapters on complex genetic disorders, genomic imprinting, and human population genetics * Expanded and fully revised section on clinical genetics, covering diagnostic testing, molecular screening, and various treatments This text is targeted at upper-level undergraduate students, graduate students, and medical students. It is also an excellent reference for researchers and physicians who need a clinically relevant reference for the molecular genetics of inherited human diseases.
Mechanisms of Inherited Diseases
Author: Jack J. Pasternak
Publisher: John Wiley & Sons
Publisher: Pearson Education India
This book examines the toxicological and health implications of environmental epigenetics and provides knowledge through an interdisciplinary approach. Included in this volume are chapters outlining various environmental risk factors such as phthalates and dietary components, life states such as pregnancy and ageing, hormonal and metabolic considerations and specific disease risks such as cancer cardiovascular diseases and other non-communicable diseases. Environmental Epigenetics imparts integrative knowledge of the science of epigenetics and the issues raised in environmental epidemiology. This book is intended to serve both as a reference compendium on environmental epigenetics for scientists in academia, industry and laboratories and as a textbook for graduate level environmental health courses. Environmental Epigenetics imparts integrative knowledge of the science of epigenetics and the issues raised in environmental epidemiology. This book is intended to serve both as a reference compendium on environmental epigenetics for scientists in academia, industry and laboratories and as a textbook for graduate level environmental health courses.
Author: L. Joseph Su,Tung-chin Chiang
In the 1960's and 1970's, personality and mental illness were conceptualized in an intertwined psychodynamic model. Biological psychiatry for many un-weaved that model and took mental illness for psychiatry and left personality to psychology. This book brings personality back into biological psychiatry, not merely in the form of personality disorder but as part of a new intertwined molecular genetic model of personality and mental disorder. This is the beginning of a new conceptual paradigm!! This breakthrough volume marks the beginning of a new era, an era made possible by the electrifying pace of discovery and innovation in the field of molecular genetics. In fact, several types of genome maps have already been completed, and today's experts confidently predict that we will have a smooth version of the sequencing of the human genome -- which contains some 3 billion base pairs Such astounding progress helped fuel the development of this remarkable volume, the first ever to discuss the brand-new -- and often controversial -- field of molecular genetics and the human personality. Questioning, critical, and strong on methodological principles, this volume reflects the point of view of its 35 distinguished contributors -- all pioneers in this burgeoning field and themselves world-class theoreticians, empiricists, clinicians, developmentalists, and statisticians. For students of psychopathology and others bold enough to hold in abeyance their understandable misgivings about the conjunction of "molecular genetics" and "human personality," this work offers an authoritative and up-to-date introduction to the molecular genetics of human personality. The book, with its wealth of facts, conjectures, hopes, and misgivings, begins with a preface by world-renowned researcher and author Irving Gottesman. The authors masterfully guide us through Chapter 1, principles and methods; Chapter 4, animal models for personality; and Chapter 11, human intelligence as a model for personality, laying the groundwork for our appreciation of the remaining empirical findings of human personality qua personality. Many chapters (6, 7, 9, 11, and 13) emphasize the neurodevelopmental and ontogenetic aspects of personality, with a major emphasis on the receptors and transporters for the neurotransmitters dopamine and serotonin. Though these neurotransmitters are a rational starting point now, the future undoubtedly will bring many other candidate genes that today cannot even be imagined, given our ignorance of the genes involved in the prenatal development of the central nervous system. Chapter 3 provides an integrative overview of the broad autism phenotype, and as such will be of special interest to child psychiatrists. Chapters 5, 8, and 10 offer enlightening information on drug and alcohol abuse. Chapter 14 discusses variations in sexuality. Adding balance and mature perspectives on how all the chapters complement and sometimes challenge one another are Chapter 2, written by a major figure in the renaissance of the relevance to psychopathology of both genetics and personality; Chapters 15-17, informed critical appraisals citing concerns and cautions about premature applications of this information in the policy arena; and Chapter 18, a judicious contemplation by the editors themselves of this promising -- and, to some, alarming -- field. Clear and meticulously researched, this eminently satisfying work is written to introduce the subject to postgraduate students just beginning to develop their research skills, to interested psychiatric practitioners, and to informed laypersons with some scientific background.
Author: Jonathan Benjamin,Richard P. Ebstein,Robert H. Belmaker
Publisher: American Psychiatric Pub
Human Molecular Genetics is a practical guide to the applications of molecular biology and genetics techniques to human cells. A wide range of experimental procedures for investigating human genes and genomes are presented. * * Mutation Detection in Human Genes - chemical mismatch cleavage, DNA mini-sequencing, SSCP method, RT-PCR, electrophoretic mobility shift assay (EMSA), protein truncation test, chromosome deletion analysis. * Gene Mapping, Cloning, Sequencing - gene linkage determination, large-capacity cloning system, cDNA isolation, differential display method, primer-based DNA sequencing. * Transcription: Promoters, Transcription Factors, mRNA, - promotor mutation analysis, transcription factor identification, mRNA-protein interaction characterization. * RNA Editing, Ribozymes, Antisense RNA-mammalian RNA editing assays, ribozymes as genetic tools, antisense RNA technology. * Genome Recombination, Amplification - recombination assays for mammalian cells, gene amplification measurement. * Receptors, Signal Transduction - intra-cellular receptor characterization, analysis of signal transduction genes. * The Mouse as a Model System for Human Molecular Genetics - mouse genome methods (mouse crosses, somatic cell hybrids, YACs), mouse model for cardiovascular disease.
Publisher: Academic Press
Protocols in Human Molecular Genetics highlights the tremendous advances in our ability to work on the human genome that have emerged in the past few years. The latest techniques are set forth in the clear, concise, easy-to-follow format that is the hallmark of Humana's Methods in Molecular Biology series. Nearly two-thirds of the book is devoted to describing practical procedures comprising the widest range of new methodologies in human molecular genetics, with the rest focusing on their specific experimental and clinical applications. An essential tool for everyone - whether novice or seasoned expert - involved in the rapidly growing area of human genome studies.
Author: Christopher G. Mathew
Publisher: Springer Science & Business Media
This volume of the Human Molecular Genetics series covers such genotype-phenotype correlations as clinical and environmental aspects, gene structure, expression, and mutation. Also discussed are models of certain diseases and future prospects for treatment and prevention. This book provides the reader with a basic overview of the physical expression of genetic disease before discussing in detail the most recent research and therapeutic developments.
Author: Sue Malcolm
Publisher: Gulf Professional Publishing
Molecular and Genetic Analysis of Human Traits will address the science student human genetics market. Although incorporating two basic themes: how do we establish that a trait is hereditary, and how is the human genome organized, it will also address relevant clinical examples and key related ethical issues. New attractive features have been added, including a chapter project, and end of chapter exercises which rely on real data. Each chapter includes end of chapter exercises, and references. In-text examples and internet references are cited. Most figures will be 2 color, with some 4 color inserts.
Author: Gustavo Maroni
Publisher: John Wiley & Sons
A fast moving research area where there is an ever-expanding interest, and which impacts upon a wide variety of genetic diseases. Important introductory section which considers the merits of methods employed in these studies, and examines factors which influence study design. Looks at the different approaches that have been taken to study complex inherited diseases by considering a variety of common diseases as models. Discusses the successes achieved through past studies, with implications for future research. Multifactorial or complex diseases are those characterized by increased risks within families, caused by more than one gene, and which predominantly have a tremendous impact on morbidity and mortality in the general public. Examples of multifactorial diseases include: common cancers - breast, bowel, ovary etc.: Alzheimer's; epilepsy; diabetes; multiple sclerosis; schizophrenia and manic depression; asthma; rheumatoid arthritis etc. Key Features * Introductory overview of genetic diseases and how they are identified * Concluding summary chapter looking at approaches taken and lessons learnt - and their relatived impacts * Section on methods of statistical analysis and design issues researchers should consider in their studies * Chapters focus on specific diseases as model systems and examples, and look at the application of different methodologies to different diseases
Author: David Timothy Bishop,Pak C. Sham
Publisher: Academic Press
Human genetics has blossomed from an obscure biological science and explanation for rare disorders to a field that is profoundly altering health care for everyone. This thoroughly updated new edition of Human Genetics: The Basics provides a concise background of gene structure and function through the lens of real examples, from families living with inherited diseases to population-wide efforts in which millions of average people are learning about their genetic selves. The book raises compelling issues concerning: • The role of genes in maintaining health and explaining sickness • Genetic testing, gene therapy, and genome editing • The common ancestry of all humanity and how we are affecting our future. Written in an engaging, narrative manner, this concise introduction is an ideal starting point for anyone who wants to know more about genes, DNA, genomes, and the genetic ties that bind us all.
Author: Ricki Lewis
Publisher: Taylor & Francis
The major histocompatibility complex (MHC) and its gene products have a major impact on health and disease through their central role in the regulation of the immune response. While the MHC has evolved as part of the host's defense strategy to protect against infection with pathogenic microorganisms, its gene products also form the major targets for rejection of allogenetic tissues in organ transplantation and susceptibility to a variety of diseases. This complex role in the health of the host has made the MHC the focus of attention in many fields of biological research. HLA and MHC: Genes, Molecules and Function is an authoritative review of the major histocompatibility complex, from the molecular genetics of the MHC through the structure and function of MHC-encoded molecules and their role in health and disease. The emphasis is on the human MHC, but relevant animal studies are also included to provide a comprehensive coverage of the subject. Internationally recognized experts in their respective fields of research have contributed individual chapters. This major new publication will be of interest not only to immunologists, but also to scientists and clinicians in a wide range of fields in which immune response plays a role.
Genes, Molecules, and Function
Author: Michael Browning,Andrew McMichael
Craniosynostosis - the premature fusion of the cranial sutures of an infant’s skull - is a challenging and complex condition that can occur as part of a syndrome or in isolation. In the last two decades increased knowledge about the structure and function of the human genome has enabled the discovery of the molecular etiologies of most forms of syndromic craniosynostosis, which in turn has allowed for the analysis of normal and abnormal sutural biology from the atomic to the population-based level. In parallel with the increase in basic biological understanding, advances in clinical diagnosis and treatment have been achieved including improved prenatal imaging technology and craniofacial surgical techniques as well as condition-specific care in specialized hospitals and clinical units.This book represents a comprehensive overview on the subject of craniosynostosis. Its 19 excellent chapters were written by the foremost authorities in the field for a wide range of readers. They cover topics including a historical review, basic biological and molecular studies, the various common and uncommon syndromes, nonsyndromic craniosynostoses, genetic testing, prenatal ultrasonography, and recent methods of neurosurgical and maxillofacial treatment. Both investigators at the bench and clinicians at the operating table will appreciate this timely book which will be the definitive volume on craniosynostosis for many years to come.
Author: M. Muenke,W. Kress,H. Collmann,B.D. Solomon
Publisher: Karger Medical and Scientific Publishers
In this book, internationally recognized experts review the most important advances regarding the group of human developmental disorders caused by constitutive dysregulation of the Ras-MAPK signalling pathway, including Noonan, cardiofaciocutaneous, LEOPARD and Costello syndromes. A historical overview given by Jacqueline Noonan is followed by chapters dedicated to comprehensive clinical summaries of each condition and up-to-date reviews on associated gene mutations and molecular pathomechanisms. Genotypephenotype correlations are outlined. Further topics include the characterization and underlying mechanisms of common abnormalities in these syndromes such as growth failure, heart defects, and tumor risk. Animal models and the relation to neurofibromatosis type 1 are discussed. The final chapter covers the critical area of treatment including prospects emerging from an improved understanding of the pathophysiology of these disorders. Providing a concise overview of a very rapidly developing field and suggesting ways how to integrate the latest findings from basic molecular research into clinical practice, this book will be of interest to clinical geneticists, pediatricians, pediatric cardiologists, and pediatric endocrinologists, as well as to human molecular geneticists and other basic researchers working on the RAS pathway.
A Matter of Deregulated Ras Signaling
Author: Martin Zenker
Publisher: Karger Medical and Scientific Publishers
Leading medical genetics scholar Moyra Smith reviews current and recent work in genetics and genomics to assess progress in understanding human variation and the pathogenesis of common and rare diseases in which genetics plays a role. Smith provides an exceptional overview of the most important biomedical progress arising from the greatly increased genetic information base generated by gene mapping and the sequencing of the complete Human Genome. This book addresses into a wide spectrum of topics associated with human genetics and genomics, including: Human origins; migrations and human population diversity gained though genomic analyses. The complexities of psychiatric diseases that are influenced by genetics. The pathogenesis of late-onset neurological diseases such as Alzheimer’s, Parkinsonism, and ALS. Key aspects of protein misfolding. Gene-environment interactions in DNA damage and repair and DNA instability. Micro RNAs and mRNA translation. Epigenetics. New functions for old enzymes in cancer.
Insights into Human Variation and Disease Susceptibility
Author: Moyra Smith
Publisher: FT Press
Aimed at graduate level courses, this textbook provides students with a solid background in the basics of molecular endocrinology. Molecular Endocrinology, Second Edition, summarizes the area and provides an in-depth discussion of the molecular aspects of hormone action, including hormone-receptor interactions, second messenger generation, gene induction, and post-transcriptional control. Thoroughly revised and updated, the Second Edition includes new information on growth factors, hematopoietic-immune factors, nonclassical hormones, receptors, transduction, transcriptional regulation, as well as other relevant topics. Incorporating an abundance of new information, this text retains the self-contained, focused, and easily readable style of the First Edition. Professionals in related fields will also find this book to be a helpful summary and general reference source.
Author: Franklyn F. Bolander
Publisher: Academic Press
Mereon is an approach to the unification of knowledge that relies on whole systems modelling. It is a scientific framework that charts the sequential, emergent growth process of systems. A dynamic structure, Mereon provides insight and a new approach to General Systems Theory and non-linear science. Mereon evolved through a new approach to polyhedral geometry and topology that is related to the dynamics of the polyhedra. It is related to a large number of systems, physical, mathematical, and philosophical. In linking these systems, Mereon provides access to new relationships among them and combines geometric and process thinking. This book provides the fundamentals of such connections for an ongoing search for order, directionality, and diversity that is found in this unity. It is written in clear language that manages to connect diverse disciplines and in doing so, makes a complex system easily accessible and understandable. It will be of interest to mathematicians, geneticists, and all those interested in researching unity in science and astrobiology. Elaborates on several important aspects of General Systems Theory including nonlinearity. Each chapter is self-contained and explained relative to Mereon, providing references to scientific findings that are congruent with or expanded by Mereon. Offers a new way of modelling that can be applied across the sciences.
Unity, Perspective and Paradox
Author: Lynnclaire Dennis,Jytte Brender McNair,Louis H. Kauffman
Examines the clinical areas of molecular biology, genomics, pharmacogenomics and proteomics. This book covers the molecular areas of medical genetics, microbiology, hematology, transfusion medicine, oncology and forensic pathology. It is suitable for practicing pathologists and medical geneticists.
Author: Liang Cheng,David Y. Zhang
Publisher: Springer Science & Business Media