Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability

Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability

Author: Carlo Sala

Publisher: Academic Press

Published: 2016-04-30

Total Pages: 394

ISBN-13: 0128005335

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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


Book Synopsis Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability by : Carlo Sala

Download or read book Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability written by Carlo Sala and published by Academic Press. This book was released on 2016-04-30 with total page 394 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

The Immune Response

The Immune Response

Author: Tak W. Mak

Publisher: Academic Press

Published: 2005-11-11

Total Pages: 1217

ISBN-13: 0080534481

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The Immune Response is a unique reference work covering the basic and clinical principles of immunology in a modern and comprehensive fashion. Written in an engaging conversational style, the book conveys the broad scope and fascinating appeal of immunology. The book is beautifully illustrated with superb figures as well as many full color plates. This extraordinary work will be an invaluable resource for lecturers and graduate students in immunology, as well as a vital reference for research scientists and clinicians studying related areas in the life and medical sciences. Current and thorough 30 chapter reference reviewed by luminaries in the field Unique ‘single voice' ensures consistency of definitions and concepts Comprehensive and elegant illustrations bring key concepts to life Provides historical context to allow fuller understanding of key issues Introductory chapters 1-4 serve as an ‘Immunology Primer' before topics are discussed in more detail


Book Synopsis The Immune Response by : Tak W. Mak

Download or read book The Immune Response written by Tak W. Mak and published by Academic Press. This book was released on 2005-11-11 with total page 1217 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Immune Response is a unique reference work covering the basic and clinical principles of immunology in a modern and comprehensive fashion. Written in an engaging conversational style, the book conveys the broad scope and fascinating appeal of immunology. The book is beautifully illustrated with superb figures as well as many full color plates. This extraordinary work will be an invaluable resource for lecturers and graduate students in immunology, as well as a vital reference for research scientists and clinicians studying related areas in the life and medical sciences. Current and thorough 30 chapter reference reviewed by luminaries in the field Unique ‘single voice' ensures consistency of definitions and concepts Comprehensive and elegant illustrations bring key concepts to life Provides historical context to allow fuller understanding of key issues Introductory chapters 1-4 serve as an ‘Immunology Primer' before topics are discussed in more detail

Genomic Disorders

Genomic Disorders

Author: James R. Lupski

Publisher: Springer Science & Business Media

Published: 2007-11-10

Total Pages: 419

ISBN-13: 1597450391

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A grand summary and synthesis of the tremendous amount of data now available in the post genomic era on the structural features, architecture, and evolution of the human genome. The authors demonstrate how such architectural features may be important to both evolution and to explaining the susceptibility to those DNA rearrangements associated with disease. Technologies to assay for such structural variation of the human genome and to model genomic disorders in mice are also presented. Two appendices detail the genomic disorders, providing genomic features at the locus undergoing rearrangement, their clinical features, and frequency of detection.


Book Synopsis Genomic Disorders by : James R. Lupski

Download or read book Genomic Disorders written by James R. Lupski and published by Springer Science & Business Media. This book was released on 2007-11-10 with total page 419 pages. Available in PDF, EPUB and Kindle. Book excerpt: A grand summary and synthesis of the tremendous amount of data now available in the post genomic era on the structural features, architecture, and evolution of the human genome. The authors demonstrate how such architectural features may be important to both evolution and to explaining the susceptibility to those DNA rearrangements associated with disease. Technologies to assay for such structural variation of the human genome and to model genomic disorders in mice are also presented. Two appendices detail the genomic disorders, providing genomic features at the locus undergoing rearrangement, their clinical features, and frequency of detection.

Chromosome Abnormalities and Genetic Counseling

Chromosome Abnormalities and Genetic Counseling

Author: R.J. MKinlay Gardner

Publisher: OUP USA

Published: 2012

Total Pages: 650

ISBN-13: 0195375335

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Advances in cytogenetics continue to crop up in wonderful ways, and we know exponentially more about chromosomes now than mere decades ago. Likewise, the necessary skills in offering genetic counseling continue to evolve. This new edition of Chromosome Abnormalities in Genetic Counseling offers a practical, up-to-date guide for the genetic counselor to marshal cytogenetic data and analysis clearly and effectively to families.


Book Synopsis Chromosome Abnormalities and Genetic Counseling by : R.J. MKinlay Gardner

Download or read book Chromosome Abnormalities and Genetic Counseling written by R.J. MKinlay Gardner and published by OUP USA. This book was released on 2012 with total page 650 pages. Available in PDF, EPUB and Kindle. Book excerpt: Advances in cytogenetics continue to crop up in wonderful ways, and we know exponentially more about chromosomes now than mere decades ago. Likewise, the necessary skills in offering genetic counseling continue to evolve. This new edition of Chromosome Abnormalities in Genetic Counseling offers a practical, up-to-date guide for the genetic counselor to marshal cytogenetic data and analysis clearly and effectively to families.

ISCN 2013

ISCN 2013

Author: International Standing Committee on Human Cytogenetic Nomenclature

Publisher: Karger Medical and Scientific Publishers

Published: 2013

Total Pages: 148

ISBN-13: 3318022535

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This publication extends the now classic system of human cytogenetic nomenclature prepared by an expert committee and published in collaboration with Cytogenetic and Genome Research' since 1963. Revised and finalized by the ISCN Committee and its advisors at a meeting in Seattle, Wash., in April 2012, the ISCN 2013 updates, revises and incorporates all previous human cytogenetic nomenclature recommendations into one systematically organized publication that supersedes all previous ISCN recommendations. There are several new features in ISCN 2013: an update of the microarray nomenclature, many more illustrative examples of uses of nomenclature in all sections some definitions including chromothripsis and duplication a new chapter for nomenclature that can be used for any region-specific assay. The ISCN 2013 is an indispensable reference volume for human cytogeneticists, technicians and students for the interpretation and communication of human cytogenetic nomenclature.


Book Synopsis ISCN 2013 by : International Standing Committee on Human Cytogenetic Nomenclature

Download or read book ISCN 2013 written by International Standing Committee on Human Cytogenetic Nomenclature and published by Karger Medical and Scientific Publishers. This book was released on 2013 with total page 148 pages. Available in PDF, EPUB and Kindle. Book excerpt: This publication extends the now classic system of human cytogenetic nomenclature prepared by an expert committee and published in collaboration with Cytogenetic and Genome Research' since 1963. Revised and finalized by the ISCN Committee and its advisors at a meeting in Seattle, Wash., in April 2012, the ISCN 2013 updates, revises and incorporates all previous human cytogenetic nomenclature recommendations into one systematically organized publication that supersedes all previous ISCN recommendations. There are several new features in ISCN 2013: an update of the microarray nomenclature, many more illustrative examples of uses of nomenclature in all sections some definitions including chromothripsis and duplication a new chapter for nomenclature that can be used for any region-specific assay. The ISCN 2013 is an indispensable reference volume for human cytogeneticists, technicians and students for the interpretation and communication of human cytogenetic nomenclature.

Translational Systems Medicine and Oral Disease

Translational Systems Medicine and Oral Disease

Author: Stephen Sonis

Publisher: Academic Press

Published: 2019-09-14

Total Pages: 458

ISBN-13: 0128137630

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Translational Systems Medicine and Oral Disease bridges the gap between discovery science and clinical oral medicine, providing opportunities for both the scientific and clinical communities to understand how to apply recent findings in cell biology, genomic profiling, and systems medicine to favorably impact the diagnosis, treatment and management of oral diseases. Fully illustrated chapters from leading international contributors explore clinical applications of genomics, proteomics, metabolomics, microbiomics and epigenetics, as well as analytic methods and functional omics in oral medicine. Disease specific chapters detail systems approaches to periodontal disease, salivary gland diseases, oral cancer, bone disease, and autoimmune disease, among others. In addition, the book emphasizes biological synergisms across disciplines and their translational impact for clinicians, researchers and students in the fields of dentistry, dermatology, gastroenterology, otolaryngology, oncology and primary care. Presents the work of leading international researchers and clinicians who speak on the clinical applications of genomics, proteomics, metabolomics, microbiomics, and epigenetics, as well as analytic methods and functional omics in oral medicine Provides full-color, richly illustrated chapters that examine systems approaches to periodontal disease, salivary gland diseases, oral cancer, bone disease and autoimmune diseases Includes clinical case studies that illustrate examples of oral disease diagnostics and management, highlighting points of key importance for the reader Emphasizes biological synergisms across disciplines and their translational impact for clinicians, researchers, and students in the fields of dentistry, dermatology, gastroenterology, otolaryngology, oncology, and primary care


Book Synopsis Translational Systems Medicine and Oral Disease by : Stephen Sonis

Download or read book Translational Systems Medicine and Oral Disease written by Stephen Sonis and published by Academic Press. This book was released on 2019-09-14 with total page 458 pages. Available in PDF, EPUB and Kindle. Book excerpt: Translational Systems Medicine and Oral Disease bridges the gap between discovery science and clinical oral medicine, providing opportunities for both the scientific and clinical communities to understand how to apply recent findings in cell biology, genomic profiling, and systems medicine to favorably impact the diagnosis, treatment and management of oral diseases. Fully illustrated chapters from leading international contributors explore clinical applications of genomics, proteomics, metabolomics, microbiomics and epigenetics, as well as analytic methods and functional omics in oral medicine. Disease specific chapters detail systems approaches to periodontal disease, salivary gland diseases, oral cancer, bone disease, and autoimmune disease, among others. In addition, the book emphasizes biological synergisms across disciplines and their translational impact for clinicians, researchers and students in the fields of dentistry, dermatology, gastroenterology, otolaryngology, oncology and primary care. Presents the work of leading international researchers and clinicians who speak on the clinical applications of genomics, proteomics, metabolomics, microbiomics, and epigenetics, as well as analytic methods and functional omics in oral medicine Provides full-color, richly illustrated chapters that examine systems approaches to periodontal disease, salivary gland diseases, oral cancer, bone disease and autoimmune diseases Includes clinical case studies that illustrate examples of oral disease diagnostics and management, highlighting points of key importance for the reader Emphasizes biological synergisms across disciplines and their translational impact for clinicians, researchers, and students in the fields of dentistry, dermatology, gastroenterology, otolaryngology, oncology, and primary care

The Nutritional Biochemistry of Chromium(III)

The Nutritional Biochemistry of Chromium(III)

Author: John Vincent

Publisher: Elsevier

Published: 2011-10-13

Total Pages: 292

ISBN-13: 9780080475394

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Chromium nutritional supplements are the second best selling mineral supplements after calcium as chromium is found in pills, sports drinks, chewing gums, smoothies, and numerous other products. Chromium has been promoted to promote weight loss and muscle development and most recently to be available to treat the symptoms of type 2 diabetes and related conditions. The aim of The Nutritional Biochemistry of Chromium(III) is to examine the four most controversial areas of chromium nutrition and biochemistry: - is chromium an essential element for humans and are chromium nutritional supplements of value? - what biochemical role, if any, does chromium play in the body - can large doses of chromium(III) be used to treat symptoms of type 2 diabetes, cardiovascular disease, and related medical conditions - is the use of chromium(III) supplements a health concern. Scientific experts, who are recognized leaders in the field, weigh in with their opinions on both sides of these issues in this book. A background review of the field from 1955-1995 by Vincent opens the book and concludes with a summary by Dr. Forrest Nielsen, Center Director of the USDA's Grand Forks Human Nutrition Research Center concludes the book. * Point-counterpoint format, providing both sides of major issues * Complete coverage of current issues, including nutrition, health, biochemical role and toxicology * Authors are recognised experts and leaders in this field


Book Synopsis The Nutritional Biochemistry of Chromium(III) by : John Vincent

Download or read book The Nutritional Biochemistry of Chromium(III) written by John Vincent and published by Elsevier. This book was released on 2011-10-13 with total page 292 pages. Available in PDF, EPUB and Kindle. Book excerpt: Chromium nutritional supplements are the second best selling mineral supplements after calcium as chromium is found in pills, sports drinks, chewing gums, smoothies, and numerous other products. Chromium has been promoted to promote weight loss and muscle development and most recently to be available to treat the symptoms of type 2 diabetes and related conditions. The aim of The Nutritional Biochemistry of Chromium(III) is to examine the four most controversial areas of chromium nutrition and biochemistry: - is chromium an essential element for humans and are chromium nutritional supplements of value? - what biochemical role, if any, does chromium play in the body - can large doses of chromium(III) be used to treat symptoms of type 2 diabetes, cardiovascular disease, and related medical conditions - is the use of chromium(III) supplements a health concern. Scientific experts, who are recognized leaders in the field, weigh in with their opinions on both sides of these issues in this book. A background review of the field from 1955-1995 by Vincent opens the book and concludes with a summary by Dr. Forrest Nielsen, Center Director of the USDA's Grand Forks Human Nutrition Research Center concludes the book. * Point-counterpoint format, providing both sides of major issues * Complete coverage of current issues, including nutrition, health, biochemical role and toxicology * Authors are recognised experts and leaders in this field

Down Syndrome: From Understanding the Neurobiology to Therapy

Down Syndrome: From Understanding the Neurobiology to Therapy

Author:

Publisher: Elsevier

Published: 2012-10-16

Total Pages: 273

ISBN-13: 0444543007

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Down syndrome (DS) is the most common example of neurogenetic aneuploid disorder leading to mental retardation. In most cases, DS results from an extra copy of chromosome 21 (HSA21) producing deregulated gene expression in brain that gives raise to subnormal intellectual functioning. The topic of this volume is of broad interest for the neuroscience community, because it tackles the concept of neurogenomics, that is, how the genome as a whole contributes to a neurodevelopmental cognitive disorders, such as DS, and thus to the development, structure and function of the nervous system. This volume of Progress in Brain Research discusses comparative genomics, gene expression atlases of the brain, network genetics, engineered mouse models and applications to human and mouse behavioral and cognitive phenotypes. It brings together scientists of diverse backgrounds, by facilitating the integration of research directed at different levels of biological organization, and by highlighting translational research and the application of the existing scientific knowledge to develop improved DS treatments and cures. Leading authors review the state-of-the-art in their field of investigation and provide their views and perspectives for future research Chapters are extensively referenced to provide readers with a comprehensive list of resources on the topics covered All chapters include comprehensive background information and are written in a clear form that is also accessible to the non-specialist


Book Synopsis Down Syndrome: From Understanding the Neurobiology to Therapy by :

Download or read book Down Syndrome: From Understanding the Neurobiology to Therapy written by and published by Elsevier. This book was released on 2012-10-16 with total page 273 pages. Available in PDF, EPUB and Kindle. Book excerpt: Down syndrome (DS) is the most common example of neurogenetic aneuploid disorder leading to mental retardation. In most cases, DS results from an extra copy of chromosome 21 (HSA21) producing deregulated gene expression in brain that gives raise to subnormal intellectual functioning. The topic of this volume is of broad interest for the neuroscience community, because it tackles the concept of neurogenomics, that is, how the genome as a whole contributes to a neurodevelopmental cognitive disorders, such as DS, and thus to the development, structure and function of the nervous system. This volume of Progress in Brain Research discusses comparative genomics, gene expression atlases of the brain, network genetics, engineered mouse models and applications to human and mouse behavioral and cognitive phenotypes. It brings together scientists of diverse backgrounds, by facilitating the integration of research directed at different levels of biological organization, and by highlighting translational research and the application of the existing scientific knowledge to develop improved DS treatments and cures. Leading authors review the state-of-the-art in their field of investigation and provide their views and perspectives for future research Chapters are extensively referenced to provide readers with a comprehensive list of resources on the topics covered All chapters include comprehensive background information and are written in a clear form that is also accessible to the non-specialist

Chromosome identification: Medicine and Natural Sciences

Chromosome identification: Medicine and Natural Sciences

Author: Torbjoern Caspersson

Publisher: Elsevier

Published: 1973-01-01

Total Pages: 357

ISBN-13: 0323162673

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Chromosome Identification—Technique and Applications in Biology and Medicine contains the proceedings of the Twenty-Third Nobel Symposium held at the Royal Swedish Academy of Sciences in Stockholm, Sweden, on September 25-27,1972. The papers review advances in chromosome banding techniques and their applications in biology and medicine. Techniques for the study of pattern constancy and for rapid karyotype analysis are discussed, along with cytological procedures; karyotypes in different organisms; somatic cell hybridization; and chemical composition of chromosomes. This book is comprised of 51 chapters divided into nine sections and begins with a survey of the cytological procedures, including fluorescence banding techniques, constitutive heterochromatin (C-band) technique, and Giemsa banding technique. The following chapters explore computerized statistical analysis of banding pattern; the use of distribution functions to describe integrated profiles of human chromosomes; the uniqueness of the human karyotype; and the application of somatic cell hybridization to the study of gene linkage and complementation. The mechanisms for certain chromosome aberration are also analyzed, together with fluorescent banding agents and differential staining of human chromosomes after oxidation treatment. This monograph will be of interest to practitioners in the fields of biology and medicine.


Book Synopsis Chromosome identification: Medicine and Natural Sciences by : Torbjoern Caspersson

Download or read book Chromosome identification: Medicine and Natural Sciences written by Torbjoern Caspersson and published by Elsevier. This book was released on 1973-01-01 with total page 357 pages. Available in PDF, EPUB and Kindle. Book excerpt: Chromosome Identification—Technique and Applications in Biology and Medicine contains the proceedings of the Twenty-Third Nobel Symposium held at the Royal Swedish Academy of Sciences in Stockholm, Sweden, on September 25-27,1972. The papers review advances in chromosome banding techniques and their applications in biology and medicine. Techniques for the study of pattern constancy and for rapid karyotype analysis are discussed, along with cytological procedures; karyotypes in different organisms; somatic cell hybridization; and chemical composition of chromosomes. This book is comprised of 51 chapters divided into nine sections and begins with a survey of the cytological procedures, including fluorescence banding techniques, constitutive heterochromatin (C-band) technique, and Giemsa banding technique. The following chapters explore computerized statistical analysis of banding pattern; the use of distribution functions to describe integrated profiles of human chromosomes; the uniqueness of the human karyotype; and the application of somatic cell hybridization to the study of gene linkage and complementation. The mechanisms for certain chromosome aberration are also analyzed, together with fluorescent banding agents and differential staining of human chromosomes after oxidation treatment. This monograph will be of interest to practitioners in the fields of biology and medicine.

MRCOG Part One

MRCOG Part One

Author: Alison Fiander

Publisher: Cambridge University Press

Published: 2016-10-13

Total Pages: 557

ISBN-13: 1107667135

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A fully updated and illustrated handbook providing comprehensive coverage of all curriculum areas covered by the MRCOG Part 1 examination.


Book Synopsis MRCOG Part One by : Alison Fiander

Download or read book MRCOG Part One written by Alison Fiander and published by Cambridge University Press. This book was released on 2016-10-13 with total page 557 pages. Available in PDF, EPUB and Kindle. Book excerpt: A fully updated and illustrated handbook providing comprehensive coverage of all curriculum areas covered by the MRCOG Part 1 examination.