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Architecture Genetique Des Troubles Du Spectre Autistique Dans Les Iles Feroe
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Book Synopsis Architecture génétique des troubles du spectre autistique dans les îles Féroé by : Coralie Carton-Buonafine
Download or read book Architecture génétique des troubles du spectre autistique dans les îles Féroé written by Coralie Carton-Buonafine and published by . This book was released on 2018 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Les Troubles du Spectre Autistique (TSA) forment un groupe hétérogène de troubles neurodéveloppementaux caractérisés par des déficits de l'interaction sociale et de la communication ainsi que la présence de comportements répétitifs et d'intérêts restreints. Les TSA affectent environ un individu sur 68. Ils se manifestent généralement durant les trois premières années de vie mais, pour certains cas, les symptômes sont reconnus plus tard, quand les exigences sociales augmentent. Les études de jumeaux et la récurrence des troubles dans certaines familles démontrent l'importance des facteurs génétiques dans la vulnérabilité aux TSA. Cependant, l'architecture génétique des TSA reste difficile à caractériser car elle est extrêmement hétérogène et il est très compliqué d'identifier, pour chacun des patients, la combinaison d'allèles à risque. Notre laboratoire a identifié la première voie génétique associée aux TSA - la voie NLGN-NRXN-SHANK- qui joue un rôle clé dans la plasticité synaptique. Il existe un nombre de plus en plus grand de gènes associés aux TSA mais peu d'études ont été réalisées sur des cohortes épidémiologiques et dans des populations isolées. L'analyse des données de génotypage et de séquençage d'exome de 357 individus issus des îles Féroé (36 patients, 136 apparentés des patients, 185 témoins) nous a permis de mettre en évidence un nombre plus important de Variations du Nombre de Copies (CNVs), un coefficient de consanguinité supérieur, un plus grand nombre de mutations homozygotes et délétères ainsi qu'un Polygenic Risk Score (ASD-PRS) supérieur chez les patients TSA comparés aux individus témoins. Notre analyse confirme le rôle de plusieurs loci associés aux TSA (NRXN1, ADNP, délétion 22q11) et a permis d'identifier de nouvelles mutations tronquant la protéine (GRIK2, ROBO1, NINL et IMMP2L) ou récessives (KIRREL3 et CNTNAP2) affectant des gènes déjà associés aux TSA. Nous avons également mis en évidence trois nouveaux gènes candidats jouant un rôle important dans la plasticité synaptique (RIMS4, KALRN et PLA2G4A) à travers la présence de mutations de novo délétères chez des patients sans déficience intellectuelle. Au total, nous avons pu identifier une cause génétique expliquant les TSA pour 11% des patients et au moins une mutation fortement délétère dans des gènes candidats chez 39% des patients. Aucune cause génétique n'a pu être trouvée chez 50% des patients. En résumé, notre étude permet de mieux comprendre l'architecture génétique des TSA dans les populations isolées en soulignant à la fois l'impact des variants communs et des variants rares mais également en révélant le rôle de nouveaux gènes pour les TSA. Ces gènes codent pour des protéines essentielles pour le neurodéveloppement et l'identification de ces facteurs impliqués dans la formation et l'entretien des synapses pourrait ainsi fournir de nouvelles pistes afin de mieux comprendre les bases biologiques des TSA et de découvrir de nouvelles stratégies thérapeutiques. Il est cependant nécessaire de comprendre plus avant l'impact de la combinaison de différentes mutations sur la fonction neuronale afin de mieux caractériser l'architecture génétique des TSA.
Book Synopsis The Viking Diaspora by : Judith Jesch
Download or read book The Viking Diaspora written by Judith Jesch and published by Routledge. This book was released on 2015-06-05 with total page 303 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Viking Diaspora presents the early medieval migrations of people, language and culture from mainland Scandinavia to new homes in the British Isles, the North Atlantic, the Baltic and the East as a form of ‘diaspora’. It discusses the ways in which migrants from Russia in the east to Greenland in the west were conscious of being connected not only to the people and traditions of their homelands, but also to other migrants of Scandinavian origin in many other locations. Rather than the movements of armies, this book concentrates on the movements of people and the shared heritage and culture that connected them. This on-going contact throughout half a millennium can be traced in the laws, literatures, material culture and even environment of the various regions of the Viking diaspora. Judith Jesch considers all of these connections, and highlights in detail significant forms of cultural contact including gender, beliefs and identities. Beginning with an overview of Vikings and the Viking Age, the nature of the evidence available, and a full exploration of the concept of ‘diaspora’, the book then provides a detailed demonstration of the appropriateness of the term to the world peopled by Scandinavians. This book is the first to explain Scandinavian expansion using this model, and presents the Viking Age in a new and exciting way for students of Vikings and medieval history.
Book Synopsis DNA for Archaeologists by : Elizabeth Matisoo-Smith
Download or read book DNA for Archaeologists written by Elizabeth Matisoo-Smith and published by Routledge. This book was released on 2016-09-16 with total page 263 pages. Available in PDF, EPUB and Kindle. Book excerpt: The ability to use DNA evidence is revolutionizing our understanding of the past. This book introduces archaeologists to the basics of DNA research so they can understand the powers and pitfalls of using DNA data in archaeological analysis and interpretation. By concentrating on the principles and applications of DNA specific to archaeology, the authors allow archaeologists to collect DNA samples properly and interpret the laboratory results with greater confidence. Written by archaeologists who conduct fieldwork as well as laboratory analysis, the volume is replete with case examples of DNA work in a variety of archaeological contexts and is an ideal teaching tool for archaeologists and their students.
Book Synopsis Neurodevelopmental Disorders by : Jo Van Herwegen
Download or read book Neurodevelopmental Disorders written by Jo Van Herwegen and published by Psychology Press. This book was released on 2014-12-05 with total page 319 pages. Available in PDF, EPUB and Kindle. Book excerpt: Interest in the field of neurodevelopmental disorders has grown exponentially in recent years across a range of disciplines, including psychology, psychiatry, education and neuroscience. The research itself has become more sophisticated, using multidisciplinary methods to probe interdisciplinary questions. Neurodevelopmental Disorders: Research Challenges and Solutions provides a thorough overview of the key issues involved in researching neurodevelopmental disorders. The volume includes 14 chapters, arranged over three sections. Chapters in the first section address general research challenges for the study of neurodevelopmental disorders. The second section draws upon specific disorders (such as Williams syndrome, Autism Spectrum Disorders, Down Syndrome, Fragile X Syndrome, ADHD, and Language Disorders) to consider the syndrome-specific issues or challenges that may be crucial to advancing our understanding of aspects of cognition and behavior associated with them. The final section considers how research evidence may be translated into practice to begin making an impact upon the lives of individuals who have neurodevelopmental disorders and their families. Each chapter in the book also includes ‘practical tips’ for either conducting research with individuals who have neurodevelopmental disorders or considering wider practical issues. The book will be indispensable reading for advanced students, researchers, and practitioners in the fields of developmental psychology, developmental psychopathology, special needs education, neuropsychology, and neurodevelopmental disorders.
Download or read book Unidentified written by Robert Salas and published by Career Press. This book was released on 2014 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: In 1969 the U.S. Air Force issued a statement that read' "No UFO reported, investigated and evaluated by the Air Force was ever an indication of threat to our national security." This statement is patently false. It has been proven untrue by the testimony of many military officers and airmen and documentation of incidents involving UFOs and nuclear weapons, testimonies of which the U.S. Air Force was fully aware. Unidentified details many of these testimonies, some for the first time. As partial justification for its position, the Air Force cites a University of Colorado study that was contracted and paid for by federal funds. Unidentified reveals how this study was actually just another part of the plan to cover up the reality of the UFO phenomenon. For the first time, Unidentified publishes evidence that the investigators for the Colorado study knew about the UFO-related missile shutdown incidents but did not investigate them or include them in their final report.
Book Synopsis Lost Secrets of the Sacred Ark by : Laurence Gardner
Download or read book Lost Secrets of the Sacred Ark written by Laurence Gardner and published by HarperCollins UK. This book was released on 2004 with total page 466 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Ark of the Covenant is the source of one of the deepest mysteries of the Western world. Laurence Gardner has accessed Rosicrucian archives to reveal where the Ark is, what it is and how this lost secret of the distant past has led to the phenomenal new science of space-time manipulation.
Book Synopsis UFOs are Real by : Clifford E. Stone
Download or read book UFOs are Real written by Clifford E. Stone and published by S.P.I. Books. This book was released on 1997 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis The Right to National Self-Determination by : Sjúrður Skaale
Download or read book The Right to National Self-Determination written by Sjúrður Skaale and published by BRILL. This book was released on 2005-01-01 with total page 221 pages. Available in PDF, EPUB and Kindle. Book excerpt: What are the Faroese and the Greenlanders? Are they peoples in their own right, indigenous peoples or Danish minorities? And what is their status under international law? Do they have the right to national self-determination? And if so, what does this right include? This volume describes the constitutional history of the Faroes and Greenland, it analyses the current international status of the two countries and compares it to countries in similar situations, and looks at how Denmark has administered the sovereignty of its dependencies. It thus sheds new light on a constitutional arrangement that by some is described as, democratic, creative and imaginative, and by others is deemed colonial. But the book also deals with the status of non-sovereign polities and the right to self-determination in general, as well as with the current attitude of the UN towards such matters. It thus offers insights which can be of value for other countries, struggling with the issue, as well as scholars working in this field.
Book Synopsis Encounter with Tiber by : Buzz Aldrin
Download or read book Encounter with Tiber written by Buzz Aldrin and published by Open Road Media. This book was released on 2013-05-28 with total page 802 pages. Available in PDF, EPUB and Kindle. Book excerpt: An Apollo 11 astronaut and the Nebula Award–nominated author of Directive 51 present a novel that “conveys the wonder and promise of space” (Publishers Weekly). Born the year of the Moon landing, Chris Terence spends his life fighting to return humanity to that pinnacle. An engineering student with dreams of spaceflight, he finds upon graduation that the United States no longer has need for astronauts. Years of bureaucratic meddling have reduced the space program to a shell of itself, and it will take the greatest scientific find in history to send humanity skyward once more. After years battling budget hawks, Chris finally gets his chance to walk on the Moon. While there, he finds evidence of an ancient alien civilization, the Tiberians, who visited Earth’s satellite eight thousand years before. Understanding what happened to those long-forgotten travelers will define the lives of Chris and his son, as they fight against all odds to unlock the secrets of the universe. “The collaboration of the first man to pilot a moon lander (Aldrin) with a major voice in contemporary science fiction (Barnes) has produced a fascinating chronicle of man’s first encounter with alien intelligence” (Booklist).
