Allelic Forms Of The Fmr1 Gene PDF Download
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| Author | : Montserrat Milà |
| Publisher | : Nova Science Publishers |
| Total Pages | : 151 |
| Release | : 2015 |
| Genre | : Ataxia |
| ISBN | : 9781634633147 |
Download Allelic Forms of the FMR1 Gene Book in PDF, ePub and Kindle
The FMR1 gene is an example of how a single gene can have different phenotypic effects. Indeed, since its discovery in 1991 it has revealed new facets: classic Fragile X syndrome (FXS), Fragile X premature ovarian insufficiency (FXPOI), Fragile X tremor-ataxia syndrome (FXTAS) and other emerging disorders from which we are continuously learning more about this gene. The chapters of this book provide an update of the different allelic forms of the FMR1 gene. Chapter 1 is a description of the classical Fragile X syndrome including clinical findings in males and females, the FMR1 gene, molecular bases, the FMRP protein, animal models, genetic counseling, newborn screening and diagnosis. Chapters 2 and 3 review the two main disorders associated with FMR1 premutation: FXPOI and FXTAS. FXPOI is a new clinical entity in which carrier premutation (PM) females present early ovarian dysfunction, with menopause occurring 5 years earlier than non-carrier family members. FXTAS is a late-onset inherited neuropsychiatric degenerative disorder that occurs predominantly in male carriers of the FMR1 premutation. Chapters 4 and 5 present the most recent advances in the current knowledge of other disorders associated with the FMR1 gene: Chapter 4 describes the psychopathological alterations of the different phenotypes associated with either premutation or full mutation. Chapter 5 is focused on the pathologies associated with the premutation such as fibromyalgia, thyroid disease and hypertension, among others. A comprehensive review of genetic counseling is done in Chapter 6 including all types of alleles related to the FMR1 gene and point mutations. Finally, although at present there is no treatment for any of these pathologies, an update of the clinical trials on therapies for all these FMR1 gene-related disorders and their current status is made in Chapter 7.
| Author | : Kay E. Davies |
| Publisher | : Oxford University Press, USA |
| Total Pages | : 150 |
| Release | : 1989 |
| Genre | : Language Arts & Disciplines |
| ISBN | : |
Download The Fragile X Syndrome Book in PDF, ePub and Kindle
This new book is an up-to-date review of the clinical, epidemiological, and cytogenetic aspects of the fragile X (Martin-Bell) syndrome--the most common genetic cause of mental retardation after Down syndrome. The book includes the latest research findings concerning diagnosis on the basis of the appearance of a fragile site in cultured lymphocytes. It assumes little prior knowledge of the subject, and provides a clearly written, easy-to-understand discussion previously unavailable in a single reference source. The book will be of special interest to molecular biologists, cytogeneticists, medical geneticists, and clinicians and other professionals working with the mentally handicapped.
| Author | : Carlo Sala |
| Publisher | : Academic Press |
| Total Pages | : 396 |
| Release | : 2016-04-30 |
| Genre | : Medical |
| ISBN | : 0128005335 |
Download Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability Book in PDF, ePub and Kindle
Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability provides the latest information on Autism spectrum disorders (ASDs), the lifelong neurodevelopmental disorders that present in early childhood and affect how individuals communicate and relate to others and their surroundings. In addition, three quarters of ASD patients also manifest severe intellectual disability. Though certain genes have been implicated, ASDs remain largely a mystery, and research looking into causes and cellular deficits are crucial for better understanding of neurodevelopmental disorders. Despite the prevalence and insidious nature of this disorder, this book remains to be an extensive resource of information and background on the state of current research in the field. The book serves as a reference for this purpose, and discusses the crucial role synaptic activity plays in proper brain function. In addition, the volume discusses the neurodevelopmental synaptopathies and serves as a resource for scientists and clinicians in all biomedical science specialties. This research has been crucial for recent studies that have provided a rationale for the development of pharmacological agents able to counteract functional synaptic anomalies and potentially ameliorate some ASD symptoms. Introduces the genetic and non-genetic causes of autism and associated intellectual disabilities Describes the genes implicated in autistic spectrum disorders and their function Considers major individual genetic causes of autism, Rett syndrome, Fragile X syndrome, and other autism spectrum disorders, as well as their classification as synaptopathies Presents a thorough discussion of the clinical aspects of multiple neurodevelopmental disorders and the experimental models that exist to study their pathophysiology in vitro and in vivo, including animal models and patient-derived stem cell culture
| Author | : Randi Jenssen Hagerman |
| Publisher | : |
| Total Pages | : 481 |
| Release | : 1996 |
| Genre | : Fragile X syndrome |
| ISBN | : 9780801853883 |
Download Fragile X Syndrome Book in PDF, ePub and Kindle
This new edition of Fragile X Syndrome includes updated information on the latest research findings -- especially in molecular biology -- as well as new photographs highlighting clinical features and thorough coverage of treatment and intervention, diagnosis, and research. Praise for the first edition: "Answers nearly all the questions that parents or clinicians might raise about fragile X syndrome....Can be recommended confidently as a thoroughly up-to-date, reliable, and informative account of the condition." -- Lancet "The clinical and cytogenetic material in this book is excellent and provides a strong background for physicians and students... Fragile X Syndrome still presents the best comprehensive treatment of this complex disorder. Physicians, students, and other interested professionals can either read this book from cover to cover or select the chapters that interest or apply to them." -- New England Journal of Medicine
| Author | : Grant R. Sutherland |
| Publisher | : |
| Total Pages | : 312 |
| Release | : 1985 |
| Genre | : Science |
| ISBN | : |
Download Fragile Sites on Human Chromosomes Book in PDF, ePub and Kindle
Fragile sites--points where chromosomes are apt to break--came to prominence in the late 1970s and are now the subject of much clinical concern and laboratory investigation. They are known or suspected agents in the genesis of mental retardation, birth defects, and cancer. This book, the first to deal with fragile sites on human chromosomes, takes a broad interdisciplinary approach to the subject, incorporating findings from cytogenetics, medical and clinical genetics, population genetics, mental retardation, dysmorphology, and oncology. The book has three interrelated sections. The first, focusing on the laboratory, presents what is known about fragile sites, their cytogenetics, and the conditions of cell culture needed to demonstrate them. A clinical section follows, covering X-linked forms of mental retardation, the clinical features associated with the fragile X, and genetic counseling with fragile sites. The final section considers fragile sites as they relate to genetics, including the possible relationship of fragile sites to cancer and to constitutional chromosome abnormalities. This book contains much previously unpublished material and will be an important resource for geneticists and cytogeneticists, molecular and cancer biologists, oncologists, pediatricians, and other health professionals.
| Author | : Edward S. Tobias |
| Publisher | : Cambridge University Press |
| Total Pages | : 145 |
| Release | : 2014-03-20 |
| Genre | : Medical |
| ISBN | : 1107661307 |
Download Medical Genetics for the MRCOG and Beyond Book in PDF, ePub and Kindle
Clear, understandable and concise with an accompanying internet guide, this is an unbeatable resource for learning, revision and staying up to date.
| Author | : Alison Fiander |
| Publisher | : Cambridge University Press |
| Total Pages | : 557 |
| Release | : 2016-10-13 |
| Genre | : Education |
| ISBN | : 1107667135 |
Download MRCOG Part One Book in PDF, ePub and Kindle
A fully updated and illustrated handbook providing comprehensive coverage of all curriculum areas covered by the MRCOG Part 1 examination.
| Author | : Judith M. Rumsey |
| Publisher | : Cambridge University Press |
| Total Pages | : 473 |
| Release | : 2009-02-19 |
| Genre | : Medical |
| ISBN | : 1139476750 |
Download Neuroimaging in Developmental Clinical Neuroscience Book in PDF, ePub and Kindle
Modern neuroimaging offers tremendous opportunities for gaining insights into normative development and a wide array of developmental neuropsychiatric disorders. Focusing on ontogeny, this text covers basic processes involved in both healthy and atypical maturation, and also addresses the range of neuroimaging techniques most widely used for studying children. This book will enable you to understand normative structural and functional brain maturation and the mechanisms underlying basic developmental processes; become familiar with current knowledge and hypotheses concerning the neural bases of developmental neuropsychiatric disorders; and learn about neuroimaging techniques, including their unique strengths and limitations. Coverage includes normal developmental processes, atypical processing in developmental neuropsychiatric disorders, ethical issues, neuroimaging techniques and their integration with psychopharmacologic and molecular genetic research approaches, and future directions. This comprehensive volume is an essential resource for neurologists, neuropsychologists, psychiatrists, pediatricians, and radiologists concerned with normal development and developmental neuropsychiatric disorders.
| Author | : Yoshinori Kohwi |
| Publisher | : Springer Science & Business Media |
| Total Pages | : 341 |
| Release | : 2008-02-03 |
| Genre | : Science |
| ISBN | : 1592598048 |
Download Trinucleotide Repeat Protocols Book in PDF, ePub and Kindle
Trinucleotide repeats are relatively common in the human genome. These simple repeats have received much attention since epoch-making discoveries were made that particular trinucleotide repeats are expanded in the causal genes of human hereditary neurological disorders. For example, the CGG repeat is expanded in fragile X syndrome at the 5' untranslated region (UTR) of its causal gene. In myotonic dystrophy, it is the CTG repeat that is expanded at the 3' UTR of its causal gene. The CAG repeat was also found expanded in coding regions of the genes responsible for X-linked spinal and bulbar muscular atrophy, Huntington’s disease, spinocerebellar ataxia, and other disorders. On the other hand, expansion of the GAA repeat was identified in the intron of the gene responsible for the Friedreich’s ataxia. For these trinucleotide repeat diseases, the longer the trinucleotide expansion, the earlier the age of onset and the more severe the syndrome. Thus, these findings that showed the intriguing link between a particular trinucleotide expansion and its associated neurological disorders have led to a new field of intensive study. Active research addressing the underlying mechanisms for trinucleotide repeat diseases has employed various approaches ranging from DNA biochemistry to animal models for the diseases. In particular, animal models for the triplet repeat diseases have provided excellent resources not only for understanding the mechanisms but also for exploring therapeutic interventions.
| Author | : Roderick D.M. Page |
| Publisher | : John Wiley & Sons |
| Total Pages | : 352 |
| Release | : 2009-07-14 |
| Genre | : Science |
| ISBN | : 1444313363 |
Download Molecular Evolution Book in PDF, ePub and Kindle
The study of evolution at the molecular level has given the subject of evolutionary biology a new significance. Phylogenetic 'trees' of gene sequences are a powerful tool for recovering evolutionary relationships among species, and can be used to answer a broad range of evolutionary and ecological questions. They are also beginning to permeate the medical sciences. In this book, the authors approach the study of molecular evolution with the phylogenetic tree as a central metaphor. This will equip students and professionals with the ability to see both the evolutionary relevance of molecular data, and the significance evolutionary theory has for molecular studies. The book is accessible yet sufficiently detailed and explicit so that the student can learn the mechanics of the procedures discussed. The book is intended for senior undergraduate and graduate students taking courses in molecular evolution/phylogenetic reconstruction. It will also be a useful supplement for students taking wider courses in evolution, as well as a valuable resource for professionals. First student textbook of phylogenetic reconstruction which uses the tree as a central metaphor of evolution. Chapter summaries and annotated suggestions for further reading. Worked examples facilitate understanding of some of the more complex issues. Emphasis on clarity and accessibility.
