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Med-books.by - Библиотека медицинской литературы » Генетика

Biomarkers in Inborn Errors of Metabolism - Garg Uttam, Smith Laurie D. - 2017 год



Biomarkers in Inborn Errors of Metabolism - Garg Uttam, Smith Laurie D. - 2017 год

Biomarkers of Inborn Errors in Metabolism: Clinical Aspects and Laboratory Determination is structured around the new reality that laboratory testing and biomarkers are an integral part in the diagnosis and treatment of inherited metabolic diseases. The book covers currently used biomarkers as well as markers that are in development. Because biomarkers used in the initial diagnosis of disease may be different than the follow-up markers, the book also covers biomarkers used in both the prognosis and treatment of inherited metabolic disorders.
With the introduction of expanded new-born screening for inborn metabolic diseases, an increasing numbers of laboratories are involved in follow-up confirmatory testing. The book provides guidance on laboratory test selection and interpreting results in patients with suspected inherited metabolic diseases. The book provides comprehensive guidance on patient diagnosis and follow-up through its illustrative material on metabolic pathways, genetics and pathogenesis, treatment and prognosis of inherited metabolic diseases, along with essential information on clinical presentation.
Each chapter is organized with a uniform, easy-to-follow format: a brief description of the disorder and pathway; a description of treatment; biomarkers for diagnosis; biomarkers followed for treatment efficacy; biomarkers followed for disease progression; confounding conditions that can either: affect biomarker expression or mimic IEMs; other biomarkers: less established, future.

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Genetic Counseling for Adult Neurogenetic Disease: A Casebook for Clinicians - Goldman J. - 2015 год



Genetic Counseling for Adult Neurogenetic Disease: A Casebook for Clinicians - Goldman J. - 2015 год

The adult patient diagnosed with or at risk for a neurogenetic disease has many questions and concerns for the genetic counselor, the neurologist, and other practitioners. Because of the emotional and potentially life-altering impact of these diseases on the patient and family, counseling can be especially challenging.
A rare hands-on guide to the subject, Genetic Counseling for Adult Neurogenetic Disease deals with core issues that differentiate adult neurogenetic counseling from its more familiar pediatric counterpart. This innovative book with accompanying videos is designed to fill in deficits in this area typical of training programs in genetic counseling (which have pediatrics and prenatal concentrations) and neurology (which rarely cover genetic counseling). For each condition featured, chapters include a detailed overview of genetic symptoms, diagnostic criteria, and management, plus guidelines for asking, and answering, pertinent questions. The major concentration, however, is on genetic counseling issues and case histories illustrating these issues. As an added dimension, the accompanying videos depict representative issues and challenges in genetic counseling for specific diseases in addition to the basics of a neurological examination. Among the conditions discussed:
Movement disorders, including Parkinson's disease.
Dementias, including Alzheimer's disease.
Stroke.
Motor neuron diseases.
Neuropathies and channelopathies.
Adult muscular dystrophies.
Neurocutaneous syndromes.
Plus a section on neurological and neuropsychological evaluation.
This is information that will stay relevant as technologies change and genetic understanding evolves. Genetic Counseling for Adult Neurogenetic Disease offers advanced clinical wisdom for genetic counselors as well as neurologists, neuropsychologists, and other referring clinicians.

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Preventive and Predictive Genetics: Towards Personalised Medicine - Grech G., Grossman I. - 2015 год



Preventive and Predictive Genetics: Towards Personalised Medicine - Grech G., Grossman I. - 2015 год

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

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RUNX Proteins in Development and Cancer - Groner Yoram, Ito Yoshiaki, Liu Paul et al. - 2017 год



RUNX Proteins in Development and Cancer - Groner Yoram, Ito Yoshiaki, Liu Paul et al. - 2017 год

This volume provides the reader with an overview of the diverse functions of the RUNX family of genes. As highlighted in the introduction and several of the 29 chapters,
This volume provides the reader with an overview of the diverse functions of the RUNX family of genes. As highlighted in the introduction and several of the 29 chapters, humans and other mammals have three RUNX genes that are known to play specific roles in blood, bone and neuronal development. However, their evolutionary history has recently been traced back to unicellular organisms and their involvement in many well-known signaling pathways (Wnt, TGFb, Notch, Hippo) is indicative of a more general function in cell biology. Their documented roles in cell fate decisions include control of proliferation, differentiation, survival, senescence and autophagy.
The pleiotropic effects of RUNX in development are mirrored in cancer, where RUNX genes can function as oncogenes that collaborate strongly with Myc family oncogenes or as tumour suppressor genes. In the latter role, they display hallmarks of both 'gatekeepers' that modulate p53 responses and 'caretakers' that protect the genome from DNA damage. Several chapters focus on the importance of these genes in leukemia research, where RUNX1 and CBFB are frequently affected by chromosomal translocations that generate fusion oncoproteins, while recent studies suggest wider roles for RUNX modulation in solid cancers. Moreover, RUNX genes are intimately involved in the development and regulation of the immune system, while emerging evidence suggests a role in innate immunity to infectious agents, including HIV.
At the biochemical level, the RUNX family can serve as activators or repressors of transcription and as stable mediators of epigenetic memory through mitosis. Not surprisingly, RUNX activity is controlled at multiple levels, this includes miRNAs and a plethora of post-translational modifications. Several chapters highlight the interplay between the three mammalian RUNX genes, where cross-talk and partial functional redundancies are evident. Finally, structural analysis of the RUNX/CBFB interaction has led to the development of small molecule inhibitors that provide exciting new tools to decipher the roles of RUNX in development and as targets for therapy.
This volume provides a compendium and reference source that will be of broad interest to cancer researchers, developmental biologists and immunologists.

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Essentials Of Medical Genetics For Health Professionals - Gunder L.M., Martin S.A. - 2011 год



Essentials Of Medical Genetics For Health Professionals - Gunder L.M., Martin S.A. - 2011 год

Essentials of Medical Genetics for Health Professionals is a concise, accessible introduction to medical genetics for all health professions students. Even with limited exposure to genetics, students can use the accelerated approach in this text to attain a base foundation of genetics knowledge.
This book begins with a review of chromosomes, DNA, RNA, protein synthesis, and inheritance patterns and continues with a clinical focus based on understanding different disease processes. A variety of genetic diseases are explored, including what is known about the genetics involved, the signs and symptoms of the disease, and the treatment options available. This book also covers diagnostic techniques and an overview of embryonic development and teratogens. The roles of genetic counseling and screening, as well as the ethical and legal issues related to genetic screening and genetic testing are also discussed. Complete with stated objectives, definition of key terms, references, chapter summaries and end of chapter review questions with answers, each chapter is organized for optimal learning. Instructor Resources include PowerPoint Slides, a TestBank, and an Image Bank. Essentials of Medical Genetics for Health Professionals will not only have application in the classroom setting for health professions or medical students, but practicing clinicians such as physician assistants, nurse practitioners, and physicians who want to learn more or revisit genetics will also find this book a valuable, useful resource.

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Molecular Genetics of Dysregulated pH Homeostasis - Chi J.-T. - 2014 год



Molecular Genetics of Dysregulated pH Homeostasis - Chi J.-T. - 2014 год

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.

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Genetics of Cardiovascular Disease - Chico T.J. - 2014 год



Genetics of Cardiovascular Disease - Chico T.J. - 2014 год

This volume of the esteemed Progress in Molecular Biology and Translational Science series focuses on cutting-edge research related to the genetics of cardiovascular disease. Written by top experts in the field, this volume covers a range of topics, including:
Genetic models of atherosclerosis
MicroRNAs in cardiovascular disease
The role of the transcription factor KLF2 in vascular development and disease
Zebrafish as models of cardiovascular disease and hematopoietic development
Progress in Molecular Biology and Translational Science provides a forum for discussion of new discoveries, approaches, and ideas in molecular biology. It contains contributions from leaders in their fields and abundant references.
The authors are all experts in the field
The reviews are in themselves comprehensive
Each topic has the potential to lead to advances in therapy of cardiovascular disease

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Molecular Pathology: The Molecular Basis of Human Disease - Coleman William., Tsongalis Gregory - 2009 год



Molecular Pathology: The Molecular Basis of Human Disease - Coleman William., Tsongalis Gregory - 2009 год

Molecular Pathology: The Molecular Basis of Human Disease provides a current and comprehensive view of the molecular basis and mechanisms of human disease. Combining accepted principles with broader theoretical concepts and with contributions from a group of experts, the book looks into disease processes in the context of traditional pathology and their implications for translational molecular medicine. It also discusses concepts in molecular biology and genetics, recent scientific and technological advances in modern pathology, the concept of ""molecular pathogenesis"" of disease, and how disease evolves from normal cells and tissues due to perturbations in molecular pathways.
The book describes the integration of molecular and cellular pathogenesis using a bioinformatics approach and a systems biology approach to disease pathogenesis. It also discusses current and future strategies in molecular diagnosis of human disease, and the impact of molecular diagnosis on treatment decisions and the practice of personalized medicine.
This book is a valuable resource for students, biomedical researchers, practicing physician-scientists who undertake disease-related basic science and translational research, and pathology residents and other postdoctoral fellows.

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High-Yield Genetics - Dudek R. H - 2009 год



High-Yield Genetics - Dudek R. H - 2009 год

Chromosomal DNA
Chromosome Replication
Meiosis and Genetic Recombination
The Human Mitochondrial Genome
Control of Gene Expression
Mutations of the DNA Sequence
Proto-Oncogenes, Oncogenes, and Tumor-Suppressor Genes
The Cell Cycle
Molecular Biology of Cancer
Cell Biology of the Immune System
Molecular Biology of the Immune System
Molecular Biology Techniques
Identification of Human Disease Genes
Gene Therapy

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Molecular Diagnosis of Genetic Diseses - Eles R., Mountford R. - 2010 год



Molecular Diagnosis of Genetic Diseses - Eles R., Mountford R. - 2010 год

This completely revised and updated second edition to integrates the many new technologies and insights now available for the diagnosis of genetic diseases. The authors use such methodologies as PCR optimization dosage analysis, mutation scanning, and quantitative fluorescent PCR for aneuploidy analysis, Neurofibromatosis type 1, and Duchenne muscular dystrophy. These largely generic methodologies may be adapted to most genetic conditions for which a molecular diagnosis is relevant, no matter how frequent or rare their incidence. Molecular Diagnosis of Genetic Diseases, Second Edition offers diagnostic molecular geneticists a unique opportunity to sharpen their scientific skills in the design of assays, their execution, and their interpretation.

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