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Functional Validation Of Genetic Variants Identified By Next Generation Sequencing In Malformations Of Cortical Development
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Book Synopsis Functional validation of genetic variants identified by next generation sequencing in malformations of cortical development by : Dalila De Vita
Download or read book Functional validation of genetic variants identified by next generation sequencing in malformations of cortical development written by Dalila De Vita and published by . This book was released on 2021 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Malformations of cortical development (MCDs) result from a disruption in the process of the human brain cortex formation: currently, there are no pharmacological treatments for diffuse MCDs. Next-generation sequencing has accelerated the identification of MCDs causing genes: in some cases, functional studies are needed to clarify the role of genetic variants. The aim of this PhD project has been to apply a multidisciplinary approach to identify causative mutations in patients with MCDs, validate the pathogenic role of the identified mutations, and assess the effectiveness of novel in vitro treatment for mTOR pathway related MCDs.
Book Synopsis Functional validation of genetic variants identified by next generation sequencing in malformations of cortical development by : Dalila De Vita
Download or read book Functional validation of genetic variants identified by next generation sequencing in malformations of cortical development written by Dalila De Vita and published by Firenze University Press. This book was released on 2022 with total page 68 pages. Available in PDF, EPUB and Kindle. Book excerpt: Malformations of cortical development (MCDs) result from a disruption in the process of the human brain cortex formation: currently, there are no pharmacological treatments for diffuse MCDs. Next-generation sequencing has accelerated the identification of MCDs causing genes: in some cases, functional studies are needed to clarify the role of genetic variants. The aim of this PhD project has been to apply a multidisciplinary approach to identify causative mutations in patients with MCDs, validate the pathogenic role of the identified mutations, and assess the effectiveness of novel in vitro treatment for mTOR pathway related MCDs.
Book Synopsis Jasper's Basic Mechanisms of the Epilepsies by : Jeffrey L. Noebels
Download or read book Jasper's Basic Mechanisms of the Epilepsies written by Jeffrey L. Noebels and published by OUP USA. This book was released on 2012-06-29 with total page 1258 pages. Available in PDF, EPUB and Kindle. Book excerpt: Jasper's Basic Mechanisms, Fourth Edition, is the newest most ambitious and now clinically relevant publishing project to build on the four-decade legacy of the Jasper's series. In keeping with the original goal of searching for "a better understanding of the epilepsies and rational methods of prevention and treatment.", the book represents an encyclopedic compendium neurobiological mechanisms of seizures, epileptogenesis, epilepsy genetics and comordid conditions. Of practical importance to the clinician, and new to this edition are disease mechanisms of genetic epilepsies and therapeutic approaches, ranging from novel antiepileptic drug targets to cell and gene therapies.
Book Synopsis Isotopic fractionation study towards massive star-forming regions across the Galaxy by : Laura Colzi
Download or read book Isotopic fractionation study towards massive star-forming regions across the Galaxy written by Laura Colzi and published by Firenze University Press. This book was released on 2022 with total page 232 pages. Available in PDF, EPUB and Kindle. Book excerpt: One of the most important tools to investigate the chemical history of our Galaxy and our own Solar System is to measure the isotopic fractionation of chemical elements. In the present study new astronomical observations devoted to the study of hydrogen and nitrogen fractionation (D/H and 14N/15N ratios) of molecules, towards massive star-forming regions in different evolutionary phases, have been presented. Moreover, a new detailed theoretical study of carbon fractionation, 12C/13C ratios, has been done. One of the main results was the confirmation that the 14N/15N ratio increases with the galactocentric distance, as predicted by stellar nucleosynthesis Galactic chemical evolution models. This work gives new important inputs on the understanding of local chemical processes that favor the production of molecules with different isotopes in star-forming regions.
Book Synopsis Tectono-metamorphic evolution of the continental units along the edge between Alpine and Hercynian Corsica by : Maria Di Rosa
Download or read book Tectono-metamorphic evolution of the continental units along the edge between Alpine and Hercynian Corsica written by Maria Di Rosa and published by Firenze University Press. This book was released on 2022 with total page 224 pages. Available in PDF, EPUB and Kindle. Book excerpt: In this work the central area of Corsica island was studied in order to reconstruct the tectono-metamorphic history of the continental and oceanic high pressure units that occupy the structurally deeper levels of the tectonic stacking of Alpine Corsica and their stratigraphic and structural relationship with the European margin (Hercynian Corsica). The study includes the geological mapping, the mesoscale and microscale structural analysis, the acquisition of chemical analyzes and micromaps with the microprobe, thermobarometric estimation through specific methodologies for metapelites, U-Th-Pb dating of zircons and allanites. The results obtained allows to reconstruct the geodynamic model of this sector of the Alpine belt from the Permian to the Burdigalian.
Book Synopsis Advanced Ground-Based Real and Synthetic Aperture Radar by : Lapo Miccinesi
Download or read book Advanced Ground-Based Real and Synthetic Aperture Radar written by Lapo Miccinesi and published by Firenze University Press. This book was released on 2022 with total page 146 pages. Available in PDF, EPUB and Kindle. Book excerpt: Ground-based/terrestrial radar interferometry (GBRI) is a scientific topic of increasing interest in recent years. The GBRI is used in several field as remote sensing technique for monitoring natural environment (landslides, glacier, and mines) or infrastructures (bridges, towers). These sensors provide the displacement of targets by measuring the phase difference between sending and receiving radar signal. If the acquisition rate is enough the GBRI can provide the natural frequency, e.g. by calculating the Fourier transform of displacement. The research activity, presented in this work, concerns design and development of some advanced GBRI systems. These systems are related to the following issue: detection of displacement vector, Multiple Input Multiple Output (MIMO) and radars with 3D capability.
Book Synopsis SIDS Sudden Infant and Early Childhood Death by : Roger W. Byard
Download or read book SIDS Sudden Infant and Early Childhood Death written by Roger W. Byard and published by . This book was released on 2018-04 with total page 844 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume covers aspects of sudden infant and early childhood death, ranging from issues with parental grief, to the most recent theories of brainstem neurotransmitters. It also deals with the changes that have occurred over time with the definitions of SIDS (sudden infant death syndrome), SUDI (sudden unexpected death in infancy) and SUDIC (sudden unexpected death in childhood). The text will be indispensable for SIDS researchers, SIDS organisations, paediatric pathologists, forensic pathologists, paediatricians and families, in addition to residents in training programs that involve paediatrics. It will also be of use to other physicians, lawyers and law enforcement officials who deal with these cases, and should be a useful addition to all medical examiner/forensic, paediatric and pathology departments, hospital and university libraries on a global scale. Given the marked changes that have occurred in the epidemiology and understanding of SIDS and sudden death in the very young over the past decade, a text such as this is very timely and is also urgently needed.
Book Synopsis Diagnostic Imaging by : A. James Barkovich
Download or read book Diagnostic Imaging written by A. James Barkovich and published by . This book was released on 2007 with total page 1062 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Clinical Mitochondrial Medicine by : Patrick F. Chinnery
Download or read book Clinical Mitochondrial Medicine written by Patrick F. Chinnery and published by Cambridge University Press. This book was released on 2018-05-17 with total page 229 pages. Available in PDF, EPUB and Kindle. Book excerpt: This interactive clinical textbook takes a system- and case-based approach in understanding mitochondrial disorders in clinical practice.
Book Synopsis Inborn Errors of Development by : Charles J. Epstein
Download or read book Inborn Errors of Development written by Charles J. Epstein and published by Oxford University Press, USA. This book was released on 2004 with total page 1110 pages. Available in PDF, EPUB and Kindle. Book excerpt: In this book, the clinical chapters are organized into sections by defined developmental pathways or gene families, and each section is preceded by a general overview. For each disorder the authors cover the disease-causing genes, the role of these genes in development as elucidated in model organisms, the human mutations that have been identified, and the developmental pathogenesis of the condition. Clinical descriptions, along with discussions of therapy and counseling, are provided. This book will be an invaluable resource for physicians, dentists, and other health professionals and for basic scientists interested in developmental processes and genetic perturbations that affect them.
Book Synopsis From DNA to Diversity by : Sean B. Carroll
Download or read book From DNA to Diversity written by Sean B. Carroll and published by John Wiley & Sons. This book was released on 2013-04-25 with total page 475 pages. Available in PDF, EPUB and Kindle. Book excerpt: In this landmark work, the author team led by Dr. Sean Carroll presents the general principles of the genetic basis of morphological change through a synthesis of evolutionary biology with genetics and embryology. In this extensively revised second edition, the authors delve into the latest discoveries, incorporating new coverage of comparative genomics, molecular evolution of regulatory proteins and elements, and microevolution of animal development. An accessible text, focusing on the most well-known genes, developmental processes and taxa. Builds logically from developmental genetics and regulatory mechanisms to evolution at different genetic morphological levels. Adds major insights from recent genome studies, new evo-devo biology research findings, and a new chapter on models of variation and divergence among closely related species. Provides in-depth focus on key concepts through well-developed case studies. Features clear, 4-color illustrations and photographs, chapter summaries, references and a glossary. Presents the research of Dr. Carroll, a pioneer in the field and the past president of the Society for Developmental Biology.
Download or read book Innate written by Kevin J. Mitchell and published by Princeton University Press. This book was released on 2020-03-31 with total page 305 pages. Available in PDF, EPUB and Kindle. Book excerpt: "What makes you the way you are--and what makes each of us different from everyone else? In Innate, leading neuroscientist and popular science blogger Kevin Mitchell traces human diversity and individual differences to their deepest level: in the wiring of our brains. Deftly guiding us through important new research, including his own groundbreaking work, he explains how variations in the way our brains develop before birth strongly influence our psychology and behavior throughout our lives, shaping our personality, intelligence, sexuality, and even the way we perceive the world. We all share a genetic program for making a human brain, and the program for making a brain like yours is specifically encoded in your DNA. But, as Mitchell explains, the way that program plays out is affected by random processes of development that manifest uniquely in each person, even identical twins. The key insight of Innate is that the combination of these developmental and genetic variations creates innate differences in how our brains are wired--differences that impact all aspects of our psychology--and this insight promises to transform the way we see the interplay of nature and nurture. Innate also explores the genetic and neural underpinnings of disorders such as autism, schizophrenia, and epilepsy, and how our understanding of these conditions is being revolutionized. In addition, the book examines the social and ethical implications of these ideas and of new technologies that may soon offer the means to predict or manipulate human traits. Compelling and original, Innate will change the way you think about why and how we are who we are."--Provided by the publisher.
Book Synopsis Molecular and Genetic Mechanisms in Neurodevelopmental Disorders: From Bench to Bedside by : Rebecca Ann Muhle
Download or read book Molecular and Genetic Mechanisms in Neurodevelopmental Disorders: From Bench to Bedside written by Rebecca Ann Muhle and published by Frontiers Media SA. This book was released on 2022-02-02 with total page 124 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author :Senior Lecturer in Medical Genetics David N Cooper, Dr Publisher :Academic Press ISBN 13 :9780122204432 Total Pages :0 pages Book Rating :4.2/5 (44 download)
Book Synopsis Neurofibromatosis Type I by : Senior Lecturer in Medical Genetics David N Cooper, Dr
Download or read book Neurofibromatosis Type I written by Senior Lecturer in Medical Genetics David N Cooper, Dr and published by Academic Press. This book was released on 1998-05 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neurofibromatosis type 1 (NF1) is one of the most common dominantly inherited neurogenetic disorders. Affecting 1 in 4000 individuals worldwide. Symptoms include facial and body disfigurement, mental retardation and abnormalities of the cardiovascular, renal and endocrine systems. This book is written for a broad readership ranging from students to professionals. It provides the reader with a basic overview of the disease before discussing the most recent research and therapeutic developments in detail. It is essential reading for medical geneticists, molecular biologists, dermatologists, oncologists, neurologists, genetic counsellors, general practitioners and research students. The volume attempts to cover clinical aspects of the disease; gene structure, expression and mutation; structural and functional aspects of the encoded protein, neurofibromin; the role of the "NF1"gene as a tumour suppressor, the emerging genotype-phenotype relationship for NF1, animal models of the disease and future prospects for disease treatment and prevention.
Book Synopsis Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders by : Lee-Jun C. Wong
Download or read book Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders written by Lee-Jun C. Wong and published by Springer. This book was released on 2017-05-15 with total page 364 pages. Available in PDF, EPUB and Kindle. Book excerpt: Next Generation Sequencing technology has been applied to clinical diagnoses in the past three to five years using various approaches, including target gene panels and whole exomes. The purpose of this book is to summarize the experiences, the results, advantages and disadvantages, along with future development in the area of NGS-based molecular diagnosis. This up-to-date volume will not only provide the readers working with Next Generation Sequencing the basics on how to apply the technology to molecular diagnosis, but will present the results and experience of practical application.
Book Synopsis Autism and the Environment by : Institute of Medicine
Download or read book Autism and the Environment written by Institute of Medicine and published by National Academies Press. This book was released on 2008-03-12 with total page 358 pages. Available in PDF, EPUB and Kindle. Book excerpt: Autism spectrum disorders (ASD) constitute a major public health problem, affecting one in every 150 children and their families. Unfortunately, there is little understanding of the causes of ASD, and, despite their broad societal impact, many people believe that the overall research program for autism is incomplete, particularly as it relates to the role of environmental factors. The Institute of Medicine's Forum on Neuroscience and Nervous System Disorders, in response to a request from the U.S. Secretary of Health and Human Services, hosted a workshop called "Autism and the Environment: Challenges and Opportunities for Research." The focus was on improving the understanding of the ways in which environmental factors such as chemicals, infectious agents, or physiological or psychological stress can affect the development of the brain. Autism and the Environment documents the concerted effort which brought together the key public and private stakeholders to discuss potential ways to improve the understanding of the ways that environmental factors may affect ASD. The presentations and discussions from the workshop that are described in this book identify a number of promising directions for research on the possible role of different environmental agents in the etiology of autism.
Book Synopsis Disease Gene Identification by : Johanna K. DiStefano
Download or read book Disease Gene Identification written by Johanna K. DiStefano and published by Humana. This book was released on 2019-06-06 with total page 400 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume presents detailed laboratory procedures in an easy to follow format that can be carried out with success by investigators lacking previous exposure to a specific research method. Chapter guide readers through the application of molecular approaches to disease gene identification and overviews, and case studies are also presented. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and practical, Disease Gene Identification: Methods and Protocols, Second Edition aims to help with the identification and characterization of many more disease-related genes and provide novel, and effective strategies for disease treatment and prevention.
