Download or read book Identification and Characterization of Genetic Components in Autism Spectrum Disorders 2020 written by Merlin G Butler and published by Mdpi AG. This book was released on 2022-04-28 with total page 204 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Identification of the Genetic Components of Autism Spectrum Disorders 2020 will be a useful resource for laboratory and clinical scientists, translational-based researchers, primary healthcare providers and physicians, psychologists/psychiatrists, neurologists, developmental pediatricians, clinical geneticists, teachers, special educators, and caregivers involved with individuals who have autism spectrum disorders (ASD), with the goal to translate information directly to the clinical, education and home settings. Other professionals, students at all levels, and families who are interested in this important neurodevelopmental disorder will find this textbook of value by obtaining a better awareness of the causes, testing, and understanding of genetic components leading to autism, and research that may open avenues for treatment with new approaches. This textbook includes nine chapters divided into three sections (clinical, genetics, other) written by experts in the field dedicated to genetics research and clinical care, description, and treatment by generating reviews for ASD and related disorders. These chapters include information on discoveries, risk factors, causation, diagnosis, treatment, and phenotyping with characterization of genomic or genetic factors and the environment, as genetics play an important role in up to 90% of individuals with autism via over 800 currently recognized genes.
Download or read book Identification and Characterization of Genetic Components in Autism Spectrum Disorders 2019 written by Merlin G Butler and published by Mdpi AG. This book was released on 2022-04-26 with total page 256 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Identification of the Genetic Components of Autism Spectrum Disorders 2019 will serve as a resource for laboratory and clinical scientists as well as translational-based researchers, primary healthcare providers or physicians, psychologists/psychiatrists, neurologists, developmental pediatricians, clinical geneticists, and other healthcare providers, teachers, caregivers and students involved in autism spectrum disorders (ASD) with the goal to translate information directly to the clinic, education and home setting. Other professionals, students and families might find this textbook of value based on better awareness, causes and understanding of genetic components leading to autism and open avenues for treatment. Genetics play a role with up to 90% of autism, with over 800 currently recognized genes contributing to causes, clinical presentation, treatment, and counseling of family members. This textbook includes 13 chapters divided into three sections (clinical, genetics, other) written by experts in the field dedicated to research and clinical care, description, treatment and generating relevant reviews for ASD and related disorders impacting gene expression, profiling, and pathways. Identification of potential risk factors will be discussed, including obesity, microbiota, malignancy, and the immune system, as well as their direct or indirect contribution to ASD treatment and causation.
Download or read book The Identification of the Genetic Components of Autism Spectrum Disorders 2017 written by Merlin G. Butler and published by MDPI. This book was released on 2018-06-27 with total page 473 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book is a printed edition of the Special Issue "The Identification of the Genetic Components of Autism Spectrum Disorders 2017" that was published in IJMS
Download or read book The Identification of the Genetic Components of Autism Spectrum Disorders 2017 written by and published by . This book was released on 2017 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: Annotation This textbook is dedicated to the study of genetic factors contributing to autism and includes a collection of original research and review articles related to this topic. Autism spectrum disorders (ASD) include a collection of neurodevelopmental disorders characterized by three recognized behavioral domains involving difficulties in communication, social interaction and repetitive behavior. ASD affects 1 to 2 percent of children and is on the increase worldwide. Significant genetic contributions and mechanisms underlie the causation of ASD. Advances in genetic technology and better awareness have led to a diagnosis of 50 to 70 percent of individuals with ASD primarily due to chromosomal abnormalities, submicroscopic deletions or duplications now identified with high-resolution microarray analysis, next-generation DNA (exome) sequencing of gene variants or mutations, recognized single gene disorders or metabolic disturbances. Through discovery by searching genomic databases and peer-reviewed research articles, nearly 800 genes have been identified to contribute to ASD. Highlights in the field of autism research, discovery and identification of genetic components with characterization will be addressed. Furthermore, reviews of current understanding of the causes and diagnostic approaches for ASD and related syndromes will be presented along with discussion of psychiatric/behavior comorbidities and related features, environmental risk factors, parental attitudes and treatment.
Download or read book The Identification of the Genetic Components of Autism Spectrum Disorders 2017 written by Merlin G. Butler (Ed.) and published by . This book was released on 2017 with total page 462 pages. Available in PDF, EPUB and Kindle. Book excerpt: This textbook is dedicated to the study of genetic factors contributing to autism and includes a collection of original research and review articles related to this topic. Autism spectrum disorders (ASD) include a collection of neurodevelopmental disorders characterized by three recognized behavioral domains involving difficulties in communication, social interaction and repetitive behavior. ASD affects 1 to 2 percent of children and is on the increase worldwide. Significant genetic contributions and mechanisms underlie the causation of ASD. Advances in genetic technology and better awareness have led to a diagnosis of 50 to 70 percent of individuals with ASD primarily due to chromosomal abnormalities, submicroscopic deletions or duplications now identified with high-resolution microarray analysis, next-generation DNA (exome) sequencing of gene variants or mutations, recognized single gene disorders or metabolic disturbances. Through discovery by searching genomic databases and peer-reviewed research articles, nearly 800 genes have been identified to contribute to ASD. Highlights in the field of autism research, discovery and identification of genetic components with characterization will be addressed. Furthermore, reviews of current understanding of the causes and diagnostic approaches for ASD and related syndromes will be presented along with discussion of psychiatric/behavior comorbidities and related features, environmental risk factors, parental attitudes and treatment.
Download or read book Identification and Characterization of Genes Underlying for Intellectual Disability and Autism Spectrum Disorder written by Rafiullah Rafiullah and published by . This book was released on 2017 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Copy Number Variations in Autism Spectrum Disorders written by Marina Konyukh and published by . This book was released on 2010 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Characterization of Neuronal Protein Complexes to Identify Molecular Underpinnings of Autism Spectrum Disorder written by Zhuoran Wu and published by . This book was released on 2018 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Autism spectrum disorder (ASD), a complex neurodevelopmental disorder that affects brain development, social and communication skills in children and adults, poses a tremendous burden on caregivers and the healthcare system. Although advances in genetics has enabled the discovery of hundreds of ASD-associated genes, the biological context of how these ASD-linked risk genes contribute to the pathophysiology of the disorder remains unclear. The study of protein-protein interactions (PPI) offers a valuable framework for elucidating this biological context, so far only few human proteomics studies were targeted to ASD. Many cell-context-dependent human ASD interactions involved in neuronal processes are unknown. This study addresses this gap by systematically. Fourty six literature-validated ASD-linked proteins expressed in differentiated SH-SY5Y cells were studied using immunoprecipitation coupled with mass spectrometry (IP/MS) to generate a high-quality PPI network, outlining the organization of individual co-purified proteins in multiprotein complexes. Enrichment analysis confirmed the disease relevance of the PPI network and revealed significant enrichment for genes involved in gene expression, cellular transport and mitochondrial (mt) processes. From the high-confidence PPI network, two previously unreported interacting protein pairs of interest (i.e. FMRP-TWNK and DYRK1A-TRMT61B) linking mitochondria with ASD were selected for further characterization. Co-purifying proteins were validated experimentally by co-immunoprecipitation. Knockouts of the interacting protein pairs of interest were generated, with knockout efficacy confirmed by immunoblotting. The interaction between the ASD-linked fragile X mental retardation protein (FMRP) and the mt twinkle DNA helicase (TWNK) were found to play a role in maintaining mtDNA integrity. As well, a functional role between the dual-specificity tyrosine-phosphorylation regulated kinase (DYRK1A) and the mt tRNA methyltransferase 61B (TRMT61B) in tRNA methylation were established. While additional work is needed to dissect the molecular mechanisms of these interactions, the findings from this study offers support to the validity of the molecular models that were proposed. In conclusion, through this Master's thesis, I was able to demonstrate that the ASD-linked PPI network generated by IP/MS can offer a powerful means for discovering new ASD links and providing future directions for understanding the role of mt in ASD biology.
Download or read book Identification and Characterization of an Autism Spectrum Disorders Risk Allele in the Homeobox Transcription Factor ENGRAILED 2 written by Rym Benayed and published by . This book was released on 2008 with total page 180 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Identifying Biological Pathways Implicated in Defined Subgroups of Phenotypic Expression for Autism Spectrum Disorders Evaluating Small Molecule Effects on Expression of ASMT written by Olivia Jean Veatch and published by . This book was released on 2013 with total page 114 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Diagnostic and Statistical Manual of Mental Disorders DSM 5 written by American Psychiatric Association and published by American Psychiatric Publishing. This book was released on 2021-09-24 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:
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.
Download or read book Reelin Glycoprotein written by S.H. Fatemi and published by Springer Science & Business Media. This book was released on 2008-06-04 with total page 473 pages. Available in PDF, EPUB and Kindle. Book excerpt: Reelin glycoprotein is a serine protease with important roles in embryogenesis and during adult life. This comprehensive and integrative book examines the role that reelin plays in the etiology of various neuropsychiatric disorders, including schizophrenia and autism. The book provides an unprecedented analysis of this emerging and novel protein by examining evidence from genetic, neuroanatomic, biochemical, and behavioral studies.
Download or read book Personalized Food Intervention and Therapy for Autism Spectrum Disorder Management written by M. Mohamed Essa and published by Springer Nature. This book was released on 2020-01-31 with total page 700 pages. Available in PDF, EPUB and Kindle. Book excerpt: The book focuses on implications of traditional and processed foods for autism spectrum disorder (ASD) intervention and management. Numerous phytonutrients and pharmacologically active compounds in edible natural products and diet could influence and offer protection to neuronal dysfunction that occurs due to ASD. The neuroprotective effects of various fruits, vegetables, nuts and seeds phytochemicals, and other natural bioactive ingredients against ASD and related conditions are discussed. Topics such as the possible neuroprotective mechanism of action of these foods and the therapeutic role of antioxidants in relation to ASD are addressed. This book also highlights the scope of using anti-inflammatory agents and antioxidants to promote neurogenesis and improve other symptoms in ASD. It emphasizes personalized nutritional approaches with dietary management of neurodevelopmental disorders/ASD cases. Information in this book is relevant to researchers in the field of complementary and alternative medicine, nutraceuticals, neuroscience, agriculture, nutrition, and food science. This volume is beneficial to students of varying levels, and across multiple disciplines.
Download or read book The Neuroscience of Autism Spectrum Disorders written by Joseph D. Buxbaum and published by Academic Press. This book was released on 2012-10-25 with total page 494 pages. Available in PDF, EPUB and Kindle. Book excerpt: Autism is no longer considered a rare disease, and the Center for Disease Control now estimates that upwards of 730,000 children in the US struggle with this isolating brain disorder. New research is leading to greater understanding of and ability to treat the disorder at an earlier age. It is hoped that further genetic and imaging studies will lead to biologically based diagnostic techniques that could help speed detection and allow early, more effective intervention. Edited by two leaders in the field, this volume offers a current survey and synthesis of the most important findings of the neuroscience behind autism of the past 20 years. With chapters authored by experts in each topic, the volume explores etiology, neuropathology, imaging, and pathways/models. Offering a broad background of ASDs with a unique focus on neurobiology, the volume offers more than the others on the market with a strictly clinical focus or a single authored perspective that fails to offer expert, comprehensive coverage. Researchers and graduate students alike with an interest in developmental disorders and autism will benefit, as will autism specialists across psychology and medicine looking to expand their expertise. Uniquely explores ASDs from a neurobiological angle, looking to uncover the molecular/cellular basis rather than to merely catalog the commonly used behavioral interventions Comprehensive coverage synthesizes widely dispersed research, serving as one-stop shopping for neurodevelopmental disorder researchers and autism specialists Edited work with chapters authored by leaders in the field around the globe - the broadest, most expert coverage available
Download or read book Autism Spectrum Disorders written by Andreas M. Grabrucker and published by . This book was released on 2021 with total page 117 pages. Available in PDF, EPUB and Kindle. Book excerpt: Autism spectrum disorders are developmental disorders. Individuals with autism spectrum disorders develop differently. These differences are usually present in social interaction, communication, and sensory processing, and become visible through a wide variety of behavioral responses that differ from individuals without autism spectrum disorders. Despite significant research efforts, the exact causes of autism spectrum disorders remain poorly understood; however, researchers have gained extensive insights into possible pathomechanisms, even at the molecular level of cells. Many diagnostic criteria have been developed, adapted, and improved. The eight chapters in this book highlight the current state-of-the-art in many areas of autism spectrum disorders. Chapter 1 provides an overview of the epidemiology of autism spectrum disorders and the current knowledge of the underlying pathogenic mechanisms. Chapter 2 summarizes the diagnostic criteria and procedures and highlights present and upcoming therapeutic strategies. Chapter 3 reviews the adverse events and trauma in people with autism spectrum disorders. Chapters 4 and 5 focus on atypical sensory processing, and Chapter 6 discusses the genetic overlap of autism spectrum disorders with other neuropsychiatric disorders such as attention deficit hyperactivity disorder (ADHD), depression, and schizophrenia. Chapter 7 focuses on the contribution of abnormalities in mitochondria, and chapter 8 discusses gut-brain interactions and a potential role for microbiota in autism spectrum disorders. This book is aimed primarily at clinicians and scientists, but many areas will also be of interest to the layperson.
Download or read book Molecular Neuropathology written by Gareth W. Roberts and published by Cambridge University Press. This book was released on 1995-06-08 with total page 204 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume provides an introduction to the essential techniques required for studying the molecular biology of brain disease. The approaches and strategies for investigations of gene structure and regulation are described with reference to the molecular genetics of prion and Alzheimer's disease. The effects of aberrant gene regulation can also be examined at the protein level by immunocytochemistry and autoradiography. Improved understanding of basic biology has resulted in new approaches to animal models using transgenic techniques and new therapeutic approaches. The volume is structured to illustrate all these approaches and demonstrate the practice and promise of molecular neuropathology.