Download or read book Molecular and Cellular Mechanisms Leading to Similar Phenotypes in Down and Fetal Alcohol Syndromes written by Jeffrey Peter Solzak and published by . This book was released on 2012 with total page 130 pages. Available in PDF, EPUB and Kindle. Book excerpt: Down syndrome (DS) and Fetal Alcohol Syndrome (FAS) are two leading causes of birth defects with phenotypes ranging from cognitive impairment to craniofacial abnormalities. While DS originates from the trisomy of human chromosome 21 and FAS from prenatal alcohol consumption, many of the defining characteristics for these two disorders are stunningly similar. A survey of the literature revealed over 20 similar craniofacial and structural deficits in both human and mouse models of DS and FAS. We hypothesized that the similar phenotypes observed are caused by disruptions in common molecular or cellular pathways during development. To test our hypothesis, we examined morphometric, genetic, and cellular phenotypes during development of our DS and FAS mouse models at embryonic days 9.5-10.5. Our preliminary evidence indicates that during early development, dysregulation of Dyrk1a and Rcan1, cardinal genes affecting craniofacial and neurological precursors of DS, are also dysregulated in embryonic FAS models. Furthermore, Caspase 3 was also found to have similar expression in DS and FAS craniofacial neural crest derived tissues such as the first branchial arch A1) and regions of the brain. This may explain a developmental deficit by means of apoptosis. We have also investigated the expression of pAkt, a protein shown to be affected in FAS models, in cells located within the craniofacial precursor of Ts65Dn. Recent research shows that Ttc3, a gene that is triplicated and shown to be overexpressed in the BA1 and neural tube of Ts65Dn, targets pAkt in the nucleus affecting important transcription factors regulating cell cycle and cell survival. While Akt has been shown to play a role in neuronal development, we hypothesize that it also affects similar cellular properties in craniofacial precursors during development. By comparing common genotypes and phenotypes of DS and FAS we may provide common mechanisms to target for potential treatments of both disorders. One of the least understood phenotypes of DS is their deficient immune system. Many individuals with DS have varying serious illnesses ranging from coeliac disease to respiratory infections that are a direct result of this immunodeficiency. Proteasomes are an integral part of a competent and efficient immune system. It has been observed that mice lacking immunoproteasomes present deficiencies in providing MHC class I peptides, proteins essential in identifying infections. A gene, Psmg1 (Dscr2), triplicated in both humans and in Ts65Dn mice, is known to act as a proteasome assembly chaperone for the 20S proteasome. We hypothesized that a dysregulation in this gene promotes a proteasome assembly aberration, impacting the efficiency of the DS immune system. To test this hypothesis we performed western blot analysis on specific precursor and processed �ø-subunits of the 20S proteasome in thymic tissue of adult Ts65Dn. While the �ø-subunits tested displayed no significant differences between trisomic and euploid mice we have provided further insight to the origins of immunodeficiency in DS.

Download or read book The Genetics of Alcoholism written by Henri Begleiter and published by Alcohol and Alcoholism. This book was released on 1995 with total page 420 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume provides an in-depth look at the genetic influences that contribute to the development of alcoholism. Part I: Epidemiologic Studies contains five chapters that examine the various approaches employed in the study of the genetics of alcoholism. It provides a historical perspectiveand details all the essentials of this subject. Part II: Selective Breeding Studies highlights the results of research involving the selective breeding of rodents. This type of research has produced homogenous strains exhibiting specific behavioral responses considered significant in thedevelopment and maintenance of alcohol dependence. The studies presented in Part III: Phenotypic Studies investigate and analyze phenotypic markers that serve as correlates to the genotypic determinants of alcoholism. Through its broad scope, this volume provides for the first time a panoramic viewof the knowledge available on the hereditary influences of alcoholism.

Download or read book Epigenetic Mechanisms of Gene Regulation written by Vincenzo E. A. Russo and published by . This book was released on 1996 with total page 716 pages. Available in PDF, EPUB and Kindle. Book excerpt: Many inheritable changes in gene function are not explained by changes in the DNA sequence. Such epigenetic mechanisms are known to influence gene function in most complex organisms and include effects such as transposon function, chromosome imprinting, yeast mating type switching and telomeric silencing. In recent years, epigenetic effects have become a major focus of research activity. This monograph, edited by three well-known biologists from different specialties, is the first to review and synthesize what is known about these effects across all species, particularly from a molecular perspective, and will be of interest to everyone in the fields of molecular biology and genetics.

Download or read book Fetal Alcohol Syndrome written by Institute of Medicine and published by National Academies Press. This book was released on 1996-04-01 with total page 230 pages. Available in PDF, EPUB and Kindle. Book excerpt: It sounds simple: Women who drink while pregnant may give birth to children with defects, so women should not drink during pregnancy. Yet in the 20 years since it was first described in the medical literature, fetal alcohol syndrome (FAS) has proved to be a stubborn problem, with consequences as serious as those of the more widely publicized "crack babies." This volume discusses FAS and other possibly alcohol-related effects from two broad perspectives: diagnosis and surveillance, and prevention and treatment. In addition, it includes several real-life vignettes of FAS children. The committee examines fundamental concepts for setting diagnostic criteria in general, reviews and updates the diagnostic criteria for FAS and related conditions, and explores current research findings and problems associated with FAS epidemiology and surveillance. In addition, the book describes an integrated multidisciplinary approach to research on the prevention and treatment of FAS. The committee: Discusses levels of preventive intervention. Reviews available data about women and alcohol abuse and treatment among pregnant women. Explores the psychological and behavioral consequences of FAS at different ages. Examines the current state of knowledge about medical and therapeutic interventions, education efforts, and family support programs. This volume will be of special interest to physicians, nurses, mental health practitioners, school and public health officials, policymakers, researchers, educators, and anyone else involved in serving families and children, especially in high risk populations.

Download or read book Mammalian Development written by Patrick P. L. Tam and published by . This book was released on 2013 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: "A subject collection from Cold Spring Harbor perspectives in biology."

Download or read book Neuropsychiatric Disorders and Epigenetics written by Jacob Peedicayil and published by Elsevier. This book was released on 2023-09-29 with total page 418 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neuropsychiatric Disorders and Epigenetics, Second Edition is a comprehensive reference on the epigenetic basis of common neuropsychiatric disorders. The volume is organized into chapters covering individual neuropsychiatric disorders, from addiction to anxiety and autism spectrum disorders, and is contributed by leading experts in their respective fields. The epigenetic aspects of each disorder are discussed, in the context of the full range of associated epigenetic mechanisms, including DNA modification, histone post-translational modification, chromatin organization, and non-coding RNA. A particular emphasis is placed on potential epigenetic interventions, when the effects of environmental stimuli on epigenetic states is particularly relevant to disease.This new edition has been fully updated to reflect recent research advances enabled by genomic technologies, as well as therapeutic interventions for previously unmanageable disorders. Several new chapters have been added on disorders or approaches not considered in the earlier edition, including epigenetics and anxiety disorders, epigenetics and neuroimaging in neuropsychiatric disorders, genome-wide approaches to epigenetic research, and the epigenetics of spinal muscular atrophy. By helping to define epigenetics as a key player in neuropsychiatric disorders, this volume empowers new research, clinical translation, and pharmacological advances, and highlights promising directions for ongoing investigation. - Analyzes the effects of environmental stimuli on epigenetic states that correlate with neuropsychiatric disease induction - Reviews the epigenetic basis for common neuropsychiatric disorders, thereby guiding translational therapies for clinicians and mechanistic studies for scientists - Features extensive use of diagrams, illustrations, tables, and graphical abstracts for each section to reinforce understanding - - Includes chapter contributions from leading global experts

Download or read book Management of Genetic Syndromes written by Suzanne B. Cassidy and published by John Wiley & Sons. This book was released on 2011-09-20 with total page 1678 pages. Available in PDF, EPUB and Kindle. Book excerpt: The bestselling guide to the medical management of common genetic syndromes —now fully revised and expanded A review in the American Journal of Medical Genetics heralded the first edition of Management of Genetic Syndromes as an "unparalleled collection of knowledge." Since publication of the first edition, improvements in the molecular diagnostic testing of genetic conditions have greatly facilitated the identification of affected individuals. This thorough revision of the critically acclaimed bestseller offers original insights into the medical management of sixty common genetic syndromes seen in children and adults, and incorporates new research findings and the latest advances in diagnosis and treatment of these disorders. Expanded to cover five new syndromes, this comprehensive new edition also features updates of chapters from the previous editions. Each chapter is written by an expert with extensive direct professional experience with that disorder and incorporates thoroughly updated material on new genetic findings, consensus diagnostic criteria, and management strategies. Edited by two of the field's most highly esteemed experts, this landmark volume provides: A precise reference of the physical manifestations of common genetic syndromes, clearly written for professionals and families Extensive updates, particularly in sections on diagnostic criteria and diagnostic testing, pathogenesis, and management A tried-and-tested, user-friendly format, with each chapter including information on incidence, etiology and pathogenesis, diagnostic criteria and testing, and differential diagnosis Up-to-date and well-written summaries of the manifestations followed by comprehensive management guidelines, with specific advice on evaluation and treatment for each system affected, including references to original studies and reviews A list of family support organizations and resources for professionals and families Management of Genetic Syndromes, Third Edition is a premier source to guide family physicians, pediatricians, internists, medical geneticists, and genetic counselors in the clinical evaluation and treatment of syndromes. It is also the reference of choice for ancillary health professionals, educators, and families of affected individuals looking to understand appropriate guidelines for the management of these disorders. From a review of the first edition: "An unparalleled collection of knowledge . . . unique, offering a gold mine of information." —American Journal of Medical Genetics

Download or read book The Oxford Handbook of Developmental Psychology Vol 1 written by Philip David Zelazo and published by Oxford University Press. This book was released on 2013-03-21 with total page 1049 pages. Available in PDF, EPUB and Kindle. Book excerpt: This handbook provides a comprehensive survey of what is now known about psychological development, from birth to biological maturity, and it highlights how cultural, social, cognitive, neural, and molecular processes work together to yield human behavior and changes in human behavior.

Download or read book Molecular Epidemiology written by Paul A. Schulte and published by Academic Press. This book was released on 2012-12-02 with total page 609 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book will serve as a primer for both laboratory and field scientists who are shaping the emerging field of molecular epidemiology. Molecular epidemiology utilizes the same paradigm as traditional epidemiology but uses biological markers to identify exposure, disease or susceptibility. Schulte and Perera present the epidemiologic methods pertinent to biological markers. The book is also designed to enumerate the considerations necessary for valid field research and provide a resource on the salient and subtle features of biological indicators.

Download or read book Epigenetics in Human Disease written by Trygve Tollefsbol and published by Academic Press. This book was released on 2012-07-26 with total page 617 pages. Available in PDF, EPUB and Kindle. Book excerpt: Epigenetics is one of the fastest growing fields of sciences, illuminating studies of human diseases by looking beyond genetic make-up and acknowledging that outside factors play a role in gene expression. The goal of this volume is to highlight those diseases or conditions for which we have advanced knowledge of epigenetic factors such as cancer, autoimmune disorders and aging as well as those that are yielding exciting breakthroughs in epigenetics such as diabetes, neurobiological disorders and cardiovascular disease. Where applicable, attempts are made to not only detail the role of epigenetics in the etiology, progression, diagnosis and prognosis of these diseases, but also novel epigenetic approaches to the treatment of these diseases. Chapters are also presented on human imprinting disorders, respiratory diseases, infectious diseases and gynecological and reproductive diseases. Since epigenetics plays a major role in the aging process, advances in the epigenetics of aging are highly relevant to many age-related human diseases. Therefore, this volume closes with chapters on aging epigenetics and breakthroughs that have been made to delay the aging process through epigenetic approaches. With its translational focus, this book will serve as valuable reference for both basic scientists and clinicians alike. Comprehensive coverage of fundamental and emergent science and clinical usage Side-by-side coverage of the basis of epigenetic diseases and their treatments Evaluation of recent epigenetic clinical breakthroughs

Download or read book Biology of the NMDA Receptor written by Antonius M. VanDongen and published by CRC Press. This book was released on 2008-10-29 with total page 368 pages. Available in PDF, EPUB and Kindle. Book excerpt: The NMDA receptor plays a critical role in the development of the central nervous system and in adult neuroplasticity, learning, and memory. Therefore, it is not surprising that this receptor has been widely studied. However, despite the importance of rhythms for the sustenance of life, this aspect of NMDAR function remains poorly studied. Written

Download or read book Comprehensive Handbook of Alcohol Related Pathology written by Victor R. Preedy and published by Elsevier. This book was released on 2004-12-24 with total page 2556 pages. Available in PDF, EPUB and Kindle. Book excerpt: This comprehensive handbook is a "one-stop-shop" for all researchers involved in the field of alcohol-related harm at the whole body or cellular level. Over 100 chapters provide abundant information of a wide range of topics that extend from the evolutionary aspects of alcohol consumption and the prevalence of alcohol misuse to programmed cell death. Each chapter is highly illustrated with tables and figures making this a valuable reference for students, clinicians and researchers alike. *Over 100 chapters conveniently divided into 3 sections *Represents a 'one-stop-shop' of information with suitable indexing of the various pathways and processes *Each chapter is highly illustrated with tables as well as figures

Download or read book Biochemistry of Prenatal Alcohol Exposure written by Ernst van Faassen and published by Nova Science Publishers. This book was released on 2011 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book reviews the biochemical pathways of ethanol and its metabolites in humans in the context of pregnancy. Special emphasis is devoted to the implications for foetal and neonatal development. The book also covers primary direct effects of ethanol as well as downstream effector pathways involving modulation of receptor and hormonal signalling, and the enzymatic status of the offspring. Special attention is given to the implications of maternal alcohol consumption for the nutritional status of compounds with recognised relevance for pregnancies, such as folate, unsaturated fatty acids and zinc.

Download or read book Prevention Recognition and Management of Fetal Alcohol Spectrum Disorders written by Raja A. S. Mukherjee and published by Springer Nature. This book was released on 2021-07-31 with total page 479 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book presents clinical assessment and management solutions for those people who are exposed to Alcohol in Pregnancy. Over the last few decades we have begun to understand the enduring effects of prenatal alcohol exposure on the developing fetus. The consequence of prenatal alcohol exposure - Fetal Alcohol Spectrum Disorders is a lifelong disorder and affects children and adults. It is a condition which is significantly under-recognised for many reasons. Assessment and diagnosis requires the input of multiple different professionals, and referral pathways are often poorly developed or non-existent. Information to support and guide these professionals in practical ways, what to do and how to help, remains limited. This book seeks to fill some of that gap by offering professionals, clear and useable research-based information and guidance that will help in their practice whilst also being a useful resource for anyone new to this increasingly recognised area of work. The book is divided into four broad areas bringing together chapters authored by experts in their field including those with lived experiences. Part one focuses on presenting an overview of the condition, and approaching women about their alcohol use and risk followed by part two focusing more around diagnostic issues. Part three follows with management advice, and part four revolves around policy and health prevention in general. Each chapter is designed to offer insight but also practical tips and support in an accessible manner. The book offers an essential guide for a broad range of health and social care professionals working with this condition.

Download or read book Molecular Genetic and Statistical Techniques for Behavioral and Neural Research written by Robert T. Gerlai and published by Academic Press. This book was released on 2018-04-24 with total page 710 pages. Available in PDF, EPUB and Kindle. Book excerpt: Molecular-Genetic and Statistical Techniques for Behavioral and Neural Research presents the most exciting molecular and recombinant DNA techniques used in the analysis of brain function and behavior, a critical piece of the puzzle for clinicians, scientists, course instructors and advanced undergraduate and graduate students. Chapters examine neuroinformatics, genetic and neurobehavioral databases and data mining, also providing an analysis of natural genetic variation and principles and applications of forward (mutagenesis) and reverse genetics (gene targeting). In addition, the book discusses gene expression and its role in brain function and behavior, along with ethical issues in the use of animals in genetics testing. Written and edited by leading international experts, this book provides a clear presentation of the frontiers of basic research as well as translationally relevant techniques that are used by neurobehavioral geneticists. - Focuses on new techniques, including electrocorticography, functional mapping, stereo EEG, motor evoked potentials, optical coherence tomography, magnetoencephalography, laser evoked potentials, transmagnetic stimulation, and motor evoked potentials - Presents the most exciting molecular and recombinant DNA techniques used in the analysis of brain function and behavior - Written and edited by leading international experts

Download or read book Cassidy and Allanson s Management of Genetic Syndromes written by John C. Carey and published by John Wiley & Sons. This book was released on 2021-01-27 with total page 1104 pages. Available in PDF, EPUB and Kindle. Book excerpt: MANAGEMENT OF GENETIC SYNDROMES THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson’s Management of Genetic Syndromes, Fourth Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on the management of genetic syndromes in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth edition includes current information on the identification of genetic syndromes (including newly developed diagnostic criteria), the genetic basis (including diagnostic testing), and the routine care and management for more than 60 genetic disorders. Written by experts, each chapter includes sections on: Incidence Diagnostic criteria Etiology, pathogenesis and genetics Diagnostic testing Differential diagnosis Manifestations and Management (by system) The book focuses on genetic syndromes, primarily those involving developmental disabilities and congenital defects. The chapter sections dealing with Manifestations and Management represents the centerpiece of each entry and is unmatched by other genetic syndrome references. Management of Genetic Syndromes is perfect for medical geneticists, genetic counselors, primary care physicians and all healthcare professionals seeking to stay current on the routine care and management of individuals with genetic disorders.

Download or read book The Chromosome 22q11 2 Deletion Syndrome written by Donna M. McDonald-McGinn and published by Academic Press. This book was released on 2022-08-19 with total page 526 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Chromosome 22q11.2 Deletion Syndrome: A Multidisciplinary Approach to Diagnosis and Treatment serves as the first comprehensive, user-friendly resource on the etiology, prognosis, and recurrence risk associated with the chromosome 22q11.2 deletion syndrome. Leading international contributors cover the background, genetics, testing methods, and pathophysiology of 22q11.2DS, placing emphasis on a strong foundation for multidisciplinary treatment strategies. Written by specialists in every applicable subspecialty, such as, cardiology, immunology, endocrinology, gastroenterology, hematology, ophthalmology, neurology, and psychiatry, among other fields. This book presents an authoritative resource with full color images that enhance concept illustration and aid in real-time decision-making. As 22q11.2 deletion syndrome has become a model for understanding rare and frequent anomalies, numerous medical issues, cognitive and behavioral phenotypes, and later onset conditions, this text will become the go to resource for clinicians, researchers, trainees, and motivated family members, in gaining a full understanding of this complex chromosomal disorder. Provides a complete description of 22q11.2 deletion syndrome for healthcare professionals, researchers, trainees, and families affected by this common condition Presents diagnostic and treatment strategies to help tackle this complex and often undiagnosed and therefore undertreated condition Covered in a user-friendly, practical format that emphasizes evidence-based evaluation and treatment derived from the latest clinical experience and research in the field Features leading international contributors in numerous sub-specialties, representing the multisystem nature of this condition Includes full color figures, flow charts, tables, and patient images to guide real-time decision-making