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Molecular Genetics, Biochemistry and Clinical Aspects of Inherited Disorders of Purine and Pyrimidine Metabolism

Molecular Genetics in Medicine: Advances, Applications and Ethical Implications

A report of the proceedings of the Galton Institute's symposium which explored ethical, legal, political and psychological problems arising within advances in molecular genetics. It concentrates on the applications of molecular genetic techniques in clinical genetics.

Molecular Genetics of Axial Patterning, Growth and Disease in Drosophila Eye

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

Molecular Genetics of Axial Patterning, Growth and Disease in the Drosophila Eye

Undoubtedly, Drosophila melanogaster, fruit fly, has proved to be one of the most popular invertebrate model organisms, and the work horse for modern day biologists. Drosophila, a highly versatile model with a genetic legacy of more than a century, provides powerful genetic, cellular, biochemical and molecular biology tools to address many questions extending from basic biology to human diseases. One of the most important questions in biology focuses on how does a multi-cellular organism develop from a single-celled embryo. The discovery of the genes responsible for pattern formation has helped refine this question, and led to other questions, such as the role of various genetics and cell biological pathways in regulating the crucial process of pattern formation and growth during organogenesis. Drosophila eye model has been extensively used to study molecular genetic mechanisms involved in patterning and growth. Since the genetic machinery involved in the Drosophila eye is similar to humans, it has been used to model human diseases and homology to eyes in other taxa. This book will discuss molecular genetic mechanisms of pattern formation, mutations in axial patterning, Genetic regulation of growth in Drosophila eye, and more. There have been no titles in the past ten years covering this topic, thus an update is urgently needed.​

Molecular Genetics of Cardiac Electrophysiology (Developments in Cardiovascular Medicine #231)

The molecular basis for atrial fibrillation continues to be largely unknown, and therapy remains unchanged, aimed at controlling the heart rate and preventing systemic emboli with anticoagulation. Familial atrial fibrillation is more common than previously suspected. While atrial fibrillation is commonly associated with acquired heart disease, a significant proportion of individuals have early onset without other forms of heart disease, referred to as "lone" atrial fibrillators. It is also well recognized that atrial fibrillation occurs on a reversible or functional basis, without associated structural heart disease, such as with hyperthyroidism or of atrial fibrillation following surgery. It remains to be determined what percentage in these individuals is familial or due to a genetic predisposition. Mapping the locus for familial atrial fibrillation is the first step towards the identification of the gene. Isolation of the gene and subsequent identification of the responsible molecular genetic defect should provide a point of entry into the mechanism responsible for the familial form and the common acquired forms of the disease and eventually provide more effective therapy. We know that the ionic currents responsible for the action potential of the atrium is due to multiple channel proteins as is electrical conduction throughout the atria. Analogous to the ongoing genetic studies in patients with familial long QT syndrome, it is highly likely that defects in each of these channel proteins will be manifested in familial atrial fibrillation.

Molecular Genetics of Colorectal Neoplasia: A Primer for the Clinician (Developments in Oncology #82)

Molecular Genetics of Colorectal Neoplasia A Primer for the Clinician provides the latest information on the genetics of colorectal cancer within a context of basic genetics, describing the subject in understandable language and making it clinically relevant. In this way, clinicians can become familiar with genetic terms and techniques related to colorectal neoplasia, providing a background upon which to build an appreciation of future advances and an ability to include them in the practicalities of patient care. This edition is intended for the healthcare provider or industry concerned with colorectal neoplasia: including general and colorectal surgeons, pathologists, oncologists, gastroenterologists, internal medicine and family practice physicians, nurses, geneticists, counsellors, registry co-ordinators, epidemiologists, and statisticians.

Molecular Genetics of Dysregulated pH Homeostasis

Most biological reactions and functions occur within a narrow range of pH. Any changes in the pH have great impacts on the biological functional at every level, including protein folding, enzymatic activities and proliferation and cell death. Therefore, maintain the pH homeostasis at the local or systemic level is one of the highest priorities for all multicellular organisms. Many redundant mechanisms are in place to maintain the pH homeostasis, a topic that is well covered in the scientific literature and medical textbooks. However, when the pH homeostasis is disrupted in various physiological adaptations and pathological situations, resulting acidity may trigger significant pathophysiological events and modulate disease outcomes. Therefore, understanding how various cells sense and react to acidity have broad impact in a wide variety of human diseases, including cancer, stroke, myocardial infarction and diabetes, renal and infectious diseases. In this book, many investigators have summarized the molecular genetics on the detailed mechanisms by which different mammalian cells sense and response acidity. These chapters cover the acidity with broad impact in biological understanding and human diseases and review various sensing mechanism and cellular responses to pH alterations in both physiological (taste, pain) and pathological settings (ischemia and cancers). Furthermore, these authors present a broad spectrum of investigative approaches to cellular response to acidosis in a in wide variety of human diseases.

Molecular Genetics of Endometrial Carcinoma (Advances in Experimental Medicine and Biology #943)

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.

Molecular Genetics of Inflammatory Bowel Disease

This book reaches out to a wide variety of professionals in the biomedical field with an interest in inflammatory bowel disease (IBD). Enormous progress has been made in the last few years since the publication of the first edition in the study of complex diseases and IBD, with hundreds of genomic regions identified that are associated with increased risk. Authored by leading clinical and research scientists in the field, the book includes state-of-the art synopses of recent genetic findings, and their interpretation for current and future exploitation in translational approaches to personalized medicine in IBD. The book also covers risk prediction, improved diagnostic and therapeutic precision, dissection of disease phenotypes and subtypes, identification of biomarkers, and host gene-microbiota interactions of clinical relevance.

Molecular Genetics of Inflammatory Bowel Disease

Research in Crohn’s disease (CD) and ulcerative colitis (UC), together known as the inflammatory bowel diseases (IBD), has truly seen a revolution in the last 5-10 years. This book examines how these genetic discoveries have led to the identification of biological functions not previously associated with IBD pathophysiology (e.g. autophagy), how multiple genetic risk factors for IBD converge on given biological functions and that together the identified variants in these genes have predisposing and protective roles (e.g. the multiple variants in the receptor for the IL23 cytokine and its signaling cascade), and how having such a large number of known genetic risk factors has changed our understanding not only about the genetic and molecular overlap between CD and UC, but also between these diseases and other chronic inflammatory diseases (e.g. psoriasis, multiple sclerosis, type 1 diabetes and many others).

Molecular Genetics of Liver Neoplasia (Cancer Genetics)

Primary liver cancer is the third most deadly and fifth most common cancer worldwide (~500,000 deaths annually), with a sharp increase of incidence in the United States in recent years. Hepatocellular carcinoma (HCC) and cholangiocarcinoma (CC) are the major types of primary liver cancer. Risk factors include gender, hepatitis B virus (HBV), hepatitis C virus (HCV), cirrhosis, metabolism diseases, diabetes, obesity, toxins, excess alcohol consumption and smoking. Liver cancer arises most frequently in inflammatory livers with extensive oxidative stress due to viral hepatitis which causes over 80% of HCC cases worldwide. Currently, survival remains dismal for most HCC and CC patients, largely due to the tumor’s aggressiveness at the time of diagnosis and the lack of effective therapy.

The Molecular Genetics of Lung Cancer

Lung cancer is the leading cause of cancer mortality in Western countries. It also provides an archetypal example of how inherited predisposing genetic variants may interact with an environmental influence (smoking) to modulate individual cancer risk. The Molecular Genetics of Lung Cancer describes how the new techniques, methods and approaches of molecular genetics are being used to unravel the complexities of the mechanisms underlying lung tumorigenesis by analysis at the DNA, RNA and protein levels with potentially important implications for tumour classification, diagnosis, prognosis and treatment as well as providing new insights into how lung tumours arise and how they progress to malignancy.

Molecular Genetics of Pancreatic Cancer

Pancreatic cancer is a formidable disease, and advances in early detection and improved therapeutics have been slow to come forth. With new advances in molecular genetics in the field of pancreatic tumorigenesis, it is an opportune time to use these recent discoveries to enhance our understanding of pancreatic cancer biology and to improve outcomes in patients. In this volume, leading experts in the field shed light on these findings describing the mutational landscape of pancreatic cancer, including new inroads into our understanding of familial pancreatic cancer, epidemiology, the biology of K-ras signaling, and the emerging contribution of epigenetic alterations to disease initiation and progression. The distinctive pancreatic cancer-stroma ecosystem as determined by the dynamic interplay of inflammation, hallmark mutations, EMT, and cancer stem cells is described, and implications of these interactions in the context of development of novel, personalized therapeutic options are explored.

Molecular Genetics of Pediatric Orthopaedic Disorders

In the past two decades we have seen a surge forward in understanding the genetics and biochemistry underlying many pediatric orthopaedic disorders. A few projects have even progressed into the realm of clinical trials that are primarily aimed at controlling progressive disease. Meanwhile, genomic technology development has outpaced expectations and is enabling gene discovery for disorders that were previously intractable with traditional genetic methods. Included in this latter category are common disorders that display multigenic inheritance, sporadic disorders, and very rare conditions that are difficult to ascertain. Simultaneously, the study of pediatric orthopaedic disorders has been continuously refined and updated, highlighting a number of likely genetic conditions that are as yet unsolved.Molecular Genetics of Pediatric Orthopaedic Disorders updates researchers and clinicians of new developments of pediatric orthopaedic genetics. The chapters inform the audience on the revolution in new genomic methods and the impact this is having on potential study designs and the potential to discover genetic causes of many unsolved orthopaedic conditions. Recent examples have been included of pediatric orthopaedic conditions, both rare and common, that are being solved with these new methods. The book also educates pediatric orthopedic clinicians and geneticists on our understanding of the biology of “classic” genetic diseases that were derived from prior genetic studies. Chapters include biobanks and strategies for studying very rare disorders, genes and pathways causing primordial dwarfism, and notch signaling in congenital scoliosis, and more.​

Molecular Gerontology: Research Status and Strategies

Esteemed researchers from different European laboratories provide state-of-the-art studies on biology and ageing, along with guidelines for future investigations. They cover such issues in molecular gerontological research as regulation of gene expression from DNA to RNA to functional proteins, origin of various age-associated diseases, genetic regulation of ageing and longevity, and different mechanisms of defense and repair. Other contributions evaluate new technologies, including transgenic organisms, and the use of nutritional and chemical modulators of ageing and lifespan.

Molecular Hematology

The new and fully-revised volume of hematologic molecular biology for practicing and trainee hematologists Molecular Hematology is a comprehensive resource for hematologists to increase their understanding of the molecular basis of various blood diseases, their pathogeneses, and current and emerging molecular research and therapies. The impact of molecular research on the field of hematology is significant—molecular techniques are continuing to play a central role in in the diagnosis and treatment of blood diseases. Molecular characterization of genes and proteins has increased our comprehension of the causes of hematological diseases and led to the development of new drug therapies and recombinant proteins. Now in its fourth edition, Molecular Hematology has been thoroughly revised and updated to reflect current advances in molecular research. Chapters introduce and summarize specific disorders, such as hemophilia, anemia, and multiple myeloma, and illustrate the impact of molecular research on their diagnoses and treatments. Contributions written by respected clinicians and researchers offer accessible coverage of topics including lymphoma genetics, molecular coagulation and thrombophilia, platelet disorders, pharmacogenomics, and many others. Demonstrates the clinical relevance of molecular biology in hematology Provides overviews of recent advances in cancer-cell biology, with an emphasis on leukemia and lymphoma Offers new and updated chapters written by an international team of experts in the field Presents new full-color charts, graphs, and illustrations Includes access to a Wiley Companion Digital Edition providing search across the book, downloadable illustrations and notation tools Molecular Hematology is an essential volume for both trainee and practicing hematologists and oncologists, molecular biologists, and research scientists working in the field of hematology.

Molecular Hematology

Now in its third edition, Molecular Hematology has been thoroughly updated to incorporate recent advances in molecular research. The aim of the book remains the same – to provide a core knowledge base for those with little exposure to molecular biological techniques. Molecular biology has had a significant impact on the understanding of blood diseases and this book shows how molecular techniques can be used in diagnosis and treatment. In each chapter the authors summarize the impact made by molecular research on the understanding of the pathogenesis of the disorder featured, and highlight the molecular strategies that exist, or are being currently investigated, for therapeutic purposes. There are six brand new chapters in this edition: History and development of molecular biology Pharmacogenomics Anemia of chronic disease Molecular pathogenesis of malaria Molecular basis of transplantation Cancer stem cells Presented in an extremely readable style with clear two-color line diagrams, this book is designed for the non-specialist and will be an invaluable resource for all trainee hematologists.

Molecular Hematology

The new and fully-revised volume of hematologic molecular biology for practicing and trainee hematologists Molecular Hematology is a comprehensive resource for hematologists to increase their understanding of the molecular basis of various blood diseases, their pathogeneses, and current and emerging molecular research and therapies. The impact of molecular research on the field of hematology is significant—molecular techniques are continuing to play a central role in in the diagnosis and treatment of blood diseases. Molecular characterization of genes and proteins has increased our comprehension of the causes of hematological diseases and led to the development of new drug therapies and recombinant proteins. Now in its fourth edition, Molecular Hematology has been thoroughly revised and updated to reflect current advances in molecular research. Chapters introduce and summarize specific disorders, such as hemophilia, anemia, and multiple myeloma, and illustrate the impact of molecular research on their diagnoses and treatments. Contributions written by respected clinicians and researchers offer accessible coverage of topics including lymphoma genetics, molecular coagulation and thrombophilia, platelet disorders, pharmacogenomics, and many others. Demonstrates the clinical relevance of molecular biology in hematology Provides overviews of recent advances in cancer-cell biology, with an emphasis on leukemia and lymphoma Offers new and updated chapters written by an international team of experts in the field Presents new full-color charts, graphs, and illustrations Includes access to a Wiley Companion Digital Edition providing search across the book, downloadable illustrations and notation tools Molecular Hematology is an essential volume for both trainee and practicing hematologists and oncologists, molecular biologists, and research scientists working in the field of hematology.

Molecular Hematology

Unique text providing a core knowledge base for those with little exposure to molecular biological methods Molecular Haematology provides essential reading for those with minimal exposure to, or understanding of, molecular biological techniques. There is an extensive glossary and each chapter is written with the non-specialist in mind. Molecular Haematology is ideal for: Trainees and residents in hematology Hematologists in practice Why Buy This Book? Unique text providing a core knowledge base for those with little exposure to molecular biological methods Focuses on the clinical relevance of molecular biology in haematology Complete revision of text and ten new chapters to cover all groundbreaking developments in the field Each chapter summarizes the impact made by molecular research on understanding the pathogenesis of a variety of blood disorders International team of contributors recruited from top specialist units around the world

Molecular Hematology

Provides a core knowledgebase for those with minimal exposure to hematologic molecular biology, fully revised and updated Molecular Hematology brings together the most up-to-date and reliable information on the molecular basis of major hematologic diseases. Edited and authored by leading experts in the field, this volume demonstrates the clinical relevance of molecular biology in the diagnosis and treatment of blood disorders. Concise, accessible chapters address key topics in modern hematology, such as lymphoma genetics, molecular coagulation, thrombophilia, pharmacogenomics, platelet disorders, hemophilia, anemia, and multiple myeloma. Chapters introduce and summarize specific hematologic diseases, explore the pathogenesis of the disorder, highlight new and emerging molecular strategies, and more. Now in its fifth edition, Molecular Hematology is fully revised to incorporate contemporary hematology research and practice. Entirely new chapters cover topics such as CAR-T cell technology, COVID, cancer cell biology, gene therapy and gene editing in clinical practice, as well as the impact of molecular research on the diagnosis and treatment of various malignant hematologic diseases. This edition includes updated suggested readings and a wealth of new full-color charts, graphs, and illustrations throughout. Covers the molecular biology of different blood diseases, their pathogeneses, and current molecular research and therapies Illustrates the impact of molecular research on hematologic investigations and therapeutics Discusses how progress in basic science and therapeutics has improved the diagnosis and care of patients with various hematologic disorders Surveys recent developments in cancer-cell biology, with an emphasis on leukemia and lymphoma Includes access to a companion Digital Edition providing search across the book, downloadable illustrations, and notation tools Molecular Hematology is a must-have resource for established and trainee clinicians, clinical scientists and researchers, medical students, and upper-level undergraduates in the fields of hematology, oncology, and molecular biology.

Molecular Hematology

Provides a core knowledgebase for those with minimal exposure to hematologic molecular biology, fully revised and updated Molecular Hematology brings together the most up-to-date and reliable information on the molecular basis of major hematologic diseases. Edited and authored by leading experts in the field, this volume demonstrates the clinical relevance of molecular biology in the diagnosis and treatment of blood disorders. Concise, accessible chapters address key topics in modern hematology, such as lymphoma genetics, molecular coagulation, thrombophilia, pharmacogenomics, platelet disorders, hemophilia, anemia, and multiple myeloma. Chapters introduce and summarize specific hematologic diseases, explore the pathogenesis of the disorder, highlight new and emerging molecular strategies, and more. Now in its fifth edition, Molecular Hematology is fully revised to incorporate contemporary hematology research and practice. Entirely new chapters cover topics such as CAR-T cell technology, COVID, cancer cell biology, gene therapy and gene editing in clinical practice, as well as the impact of molecular research on the diagnosis and treatment of various malignant hematologic diseases. This edition includes updated suggested readings and a wealth of new full-color charts, graphs, and illustrations throughout. Covers the molecular biology of different blood diseases, their pathogeneses, and current molecular research and therapies Illustrates the impact of molecular research on hematologic investigations and therapeutics Discusses how progress in basic science and therapeutics has improved the diagnosis and care of patients with various hematologic disorders Surveys recent developments in cancer-cell biology, with an emphasis on leukemia and lymphoma Includes access to a companion Digital Edition providing search across the book, downloadable illustrations, and notation tools Molecular Hematology is a must-have resource for established and trainee clinicians, clinical scientists and researchers, medical students, and upper-level undergraduates in the fields of hematology, oncology, and molecular biology.

Molecular Histopathology and Tissue Biomarkers in Drug and Diagnostic Development (Methods in Pharmacology and Toxicology)

Molecular Histopathology and Tissue Biomarkers in Drug and Diagnostic Development gathers diverse experts to present state of the art guidance and application of histopathology in drug development settings ranging from discovery research to human clinical trials. While many current applications of quantitative histology and molecular pathology in the biopharmaceutical industry are focused on oncology, this volume in addition explores non-oncologic disease areas including nonalcoholic steatohepatitis, arthritis, celiac disease, myeloproliferative disorders, neurology, and wound healing. The authors write from years of experience in diagnostic practice and pharmaceutical drug development, aiming to educate pharmaceutical and academic scientists how to best use tissue to diagnose disease and improve the process of drug development. As part of the Methods in Pharmacology and Toxicology series, this volume is designed to provide wisdom and examples that others can follow and apply as part of drug development.Comprehensive and practical, Molecular Histopathology and Tissue Biomarkers in Drug and Diagnostic Development will inform and enlighten both tissue-focused and non-tissue-focused drug development professionals about better use and interpretation of the multidimensional data contained in a tissue biopsy.

Molecular Hydrogen for Medicine: The Art of Ancient Life Revived

This book provides a comprehensive account of the current status of molecular hydrogen medicine, a young field that emerged with the discovery that inhalation of hydrogen gas leads to the elimination of harmful reactive oxygen species in rats. Various physiologic effects have since been demonstrated, and possible medical applications identified. Numerous clinical projects have now been undertaken, yielding startling results. Despite this, molecular hydrogen medicine remains underappreciated among the medical community at large. The author aims to rectify this situation by fairly but critically evaluating the potential clinical benefits based on the latest scientific research. In addition, the observed physiological effects of hydrogen gas are considered within the broad context of the evolution of life on earth, offering new perspectives and helping to place molecular hydrogen medicine legitimately within the framework of life sciences. Written in an accessible manner, the book will be of value to students, researchers, clinicians, and the general public.

Molecular Hydrogen in Health and Disease (Advances in Biochemistry in Health and Disease #27)

Molecular hydrogen (H2) has emerged as a promising therapeutic and preventive medical gas. Hydrogen gas has garnered significant attention in recent years due to its remarkable antioxidant and anti-inflammatory properties. H2 exhibits exceptional pharmacokinetics, swiftly traversing cellular biomembranes to access subcellular organelles indirectly regulating hormones and cytokines through various signal transduction pathways. H2 has the potential to address a wide range of issues, including clinical medical treatment in the areas of healthcare: myocardial ischemia, heart failure, cardiac arrest, metabolic syndrome, advanced-stage cancer, inflammatory diseases, Alzheimer's dementia, aging-related disorders, sports activities, and even beauty, agriculture, etc.Selected world-known authors in the field provide readers with a comprehensive overview of molecular hydrogen's remarkable effects and its physical, chemical, and therapeutic properties and potential in biomedical applications. This contributed volume fills the current gap in information and is intended for everyone who wants to be better informed about the wide possibilities of using molecular hydrogen. However, it is mainly intended for use by medical students, physiologists, pharmacologists, physicians, and other healthcare personnel who can use molecular hydrogen to improve the health of everyone who needs it.

Molecular Identification of Fungi

Fungi enjoy great popularity in pharmaceutical, agricultural, and biotechnological applications. Recent advances in the decipherment of whole fungal genomes promise an acceleration of these trends. This timely book links scientists from different parts of the world who are interested in the molecular identification of fungi combined with the exploration of the fungal biodiversity in different ecosystems. It provides a compendium for scientists who rely on a rapid and reliable detection of fungal specimens in environmental as well as clinical resources in order to ensure the benefit of industrial and clinical applications. Chapters focus on the opportunities and limits of the molecular marker-mediated identification of fungi. Various methods, procedures and strategies are outlined. Furthermore, the book offers an update of the current progress in the development of fungal molecular techniques, and draws attention to potential and associated problems, as well as integrating theory and practice.