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The prevalence of the Fragile X syndrome in the general population is about 1/7000 men and 1/11000 woman with an incidence of 1/4264 new-borns. Affected boys show specific characteristics such as developmental delay, cognitive deficits, language disorders, behavioral disorders and dysmorphic features. The responsible mutation is an abnormal expansion of a repeated trinucleotide (CGG) at the 5’UTR region of the FMR1 gene on the Xq27 locus of the X chromosome. Affected individuals have a number of CGG repetitions over 200 which reduce the gene translation and leads to a deficit of FMRP protein. This last one is essential in the brain development. In this paper, the characteristics of a cohort of 12 boys aged from 3 years and 4 months to 16 years and 11 months at the start of the study were identified and compared to the literature. The correlations between their genotype and their phenotype were studied and a profiles comparison among three families was realized. About the phenotype, concordant data with the literature were the one about height and weight growths, the walk development and the toilet-potting, cognitive performances in general, language features except for the stuttering and the speed of speech, and clinicals features but with lower prevalence. Discordant data were about the head circumference growth, language development and relative strengths and weaknesses in intellectual evaluations. Significant positive correlations with the length of the mutations were found with the delay of walking developments, scores obtained by PEP and number of associated pathologies. Significant negative correlations with the length of the mutation were found with the language delay, intellectual’s quotients (Wechsler and developmental quotients (Bayley). Intra-familial comparisons show heterogeneity in the mutations and a recurrence of earlier diagnosis among younger brothers. A similitude was found about height growths, schooling, intellectual’s abilities, language disorders, behavioral disorders, associated pathologies and treatment. No recurrence was found weight growths and head circumference growths, ages of development and dysmorphic features. La prévalence du syndrome du X fragile dans la population générale est d’environ 1/7000 chez les hommes et de 1/11000 chez les femmes avec une incidence de 1/4264 nouveau-nés. Les garçons atteints présentent des traits spécifiques tels qu’un retard de développement, des déficits cognitifs et des troubles du langage, des troubles du comportement et des signes dysmorphiques. La mutation responsable est une expression anormale d’une répétition d’un trinucléotide (CGG) au niveau de la région 5’ non traduite (UTR) du gène FMR1 situé sur le locus Xq27.3 du chromosome X. Chez les individus atteints, le nombre de répétitions CGGG dépasse 200 ce qui réduit la traduction du gène et mène à un déficit en protéine FMRP, essentielle au développement cérébral. Dans ce travail, les caractéristiques d’une cohorte composée de 12 garçonnets âgés de 3 ans et 4 mois à 16 ans et 11 mois au début de l’étude ont été relevées et comparées à la littérature. Les corrélations entre le génotype et leur phénotype ont été étudiées et une comparaison des profils parmi trois fratries a été réalisée.au niveau phénotypique, les données concordantes avec la littérature sont celles concernant les croissances staturales et pondérales, le développement de la marche et l’acquisition de la propreté, les performances cognitives générales, les caractéristiques langagières hormis le bégaiement et la tachyphémie, et les traits cliniques avec cependant des prévalences plus faibles. Les données discordantes concernent les croissances des périmètres crâniens, le développement du langage et les forces et faiblesses relatives obtenues lors des évaluations intellectuelles. Des corrélations significatives positives avec la longueur des mutations ont été retrouvées pour le retard de l’acquisition de la marche, les scores obtenus par le PEP et le nombre de pathologies associées. Des corrélations significatives négatives avec la taille de la mutation ont été établies pour le retard de langage, les quotients intellectuels (Wechsler) et développementaux (Bayley). Les comparaisons intrafamiliales montrent une hétérogénéité au niveau des mutations et une récurrence de diagnostic plus précoce chez les cadets. Une similitude est retrouvée à propos des croissances staturales, des parcours scolaires, des capacités intellectuelles, des troubles du langage, des troubles du comportement, des pathologies associées au syndrome et des traitements suivis. Aucune récurrence n’a été observée pour les croissances pondérales, les croissances des périmètres crâniens, les âges de développement et les traits dysmorphiques.

Genes, X-Linked --- Cohort Studies --- Genetic Association Studies

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This book is the first in a projected series on Evolutionary Cell Biology, the intent of which is to demonstrate the essential role of cellular mechanisms in transforming the genotype into the phenotype by transforming gene activity into evolutionary change in morphology. This book —Cells in Evolutionary Biology — evaluates the evolution of cells themselves and the role cells have been viewed to play as agents of change at other levels of biological organization. Chapters explore Darwin’s use of cells in his theory of evolution and how Weismann’s theory of the separation of germ plasm from body cells brought cells to center stage in understanding how acquired changes to cells within generations are not passed on to future generations. The study of evolution through the analysis of cell lineages during embryonic development dominated evolutionary cell biology until usurped by the switch to genes as the agents of heredity in the first decades of the 20th century. Discovery that cells exchanged organelles via symbiosis led to a fundamental reevaluation of prokaryotic and eukaryotic cells and to a reorganizations of the Tree of Life. Identification of cellular signaling centers, of mechanisms responsible for cellular patterning, and of cell behavior and cellular condensations as mediating the plasticity that enables phenotypic change during evolution, provided powerful new synergies between cell biology and evolutionary theory and the basis for Evolutionary Cell Biology.

Cell Biology. --- Natural History. --- Zoology. --- LIFESCIENCEnetBASE. --- SCIENCE / Life Sciences / Evolution. --- NATURE / Animals / General. --- Evolution, Molecular. --- Cell Physiological Phenomena --- Genetic Association Studies. --- Genotype. --- Phenotype. --- genetics. --- cellular control --- evolution --- biology

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In the last two decades, due to the continuous increase of lifespans in Westernsocieties, and the consequent growing of the elderly population, have witnessedan increase in the number of studies on biological and molecular factors able topromote healthy aging and reach longevity. The study of the genetic componentof human longevity demonstrated that it accounts for 25% of intra populationphenotype variance. The efforts made to characterize the genetic determinantssuggested that the maintenance of cellular integrity, inflammation, oxidativestress response, DNA repair, as well as the use of nutrients, represent the mostimportant pathways correlated with a longer lifespan. However, although aplethora of variants were indicated to be associated with human longevity, onlyvery few were successfully replicated in different populations, probably becauseof population specificity, missing heritability as well as a complex interactionamong genetic factors with lifestyle and cultural factors, which modulate theindividual chance of living longer. Thus, many challenges remain to be addressedin the search for the genetic components of human longevity. This Special Issue isaimed to unify the progress in the analysis of the genetic determinants of humanlongevity, to take stock of the situation and point to future directions of the field.We invite submissions for reviews, research articles, short-communicationsdealing with genetic association studies in human longevity, including all types ofgenetic variation, as well as the characterization of longevity-related genes.

unknown zygosity --- exceptional longevity --- TERC --- xenobiotic-metabolizing enzymes --- lifespan --- gender-specific association --- long-livers --- polymorphism --- cumulative incidence curves --- cardiovascular health --- twins --- genetic determinants of human longevity --- TERT --- SNP --- moonlighting protein --- longevity --- genomics --- APOE --- polygenic risk score --- signal transduction --- xenobiotics --- survival --- IPMK --- genetic variation --- genetic association study --- molecular senescence --- zygosity --- longevity-related genes --- age-stratification --- lipid profile --- mortality --- apolipoprotein E --- aging --- model systems --- leukocyte telomere length --- inositol phosphates --- human lifespan --- populations

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Genetic Diseases, Inborn --- Genetics, Medical --- Genetic Predisposition to Disease --- Genetic Techniques --- Genetic Counseling --- genetics --- methods --- Medical genetics. --- Genetic Counseling. --- Genetic Predisposition to Disease. --- Genetic Techniques. --- Génétique médicale --- Maladies héréditaires --- Conseil génétique --- genetics. --- methods. --- Counseling, Genetic --- Genetic Counseling, Prenatal --- Prenatal Genetic Counseling --- Eugenics --- Prenatal Diagnosis --- Directive Counseling --- Genetic Technic --- Genetic Technics --- Genetic Technique --- Technic, Genetic --- Technics, Genetic --- Technique, Genetic --- Techniques, Genetic --- Genetics --- Genetic Phenomena --- Predisposition, Genetic --- Susceptibility, Genetic --- Genetic Predisposition --- Genetic Susceptibility --- Genetic Predispositions --- Genetic Susceptibilities --- Predispositions, Genetic --- Susceptibilities, Genetic --- Disease Susceptibility --- Genetic Testing --- Anticipation, Genetic --- Genetic Association Studies --- Gene-Environment Interaction --- Human genetics --- Génétique médicale. --- Maladies héréditaires. --- Conseil génétique.

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"Over the last two decades, spurred particularly by the decoding of the genome, neuroscience has advanced to become the primary basis of clinical psychiatry, even as environmental risk factors for mental disorders have been deemphasized. In this thoroughly revised, second edition of Nature and Nurture in Mental Disorders, the author argues that an overreliance on biology at the expense of environment has been detrimental to the field-that, in fact, the "nature versus nurture" dichotomy is unnecessary. Instead, he posits a biopsychosocial model that acknowledges the role an individual's predisposing genetic factors, interacting with environmental stressors, play in the etiology of many mental disorders. The first several chapters of the book provide an overview of the theories that affect the study of genes, the environment, and their interaction, examining what the empirical evidence has revealed about each of these issues. Subsequent chapters apply the integrated model to a variety of disorders, reviewing the evidence on how genes and environment interact to shape disorders including depressive disorders, PTSD, neurodevelopmental disorders, eating disorders, and personality disorders. By rejecting both biological and psychosocial reductionism in favor of an interactive model, Nature and Nurture in Mental Disorders offers practicing clinicians a path toward a more flexible, effective treatment model. And where controversy or debate still exist, an extensive reference list provided at the end of the book, updated for this edition to reflect the most current literature, encourages further study and exploration"--

Mental illness --- Mental Disorders --- Genetic Predisposition to Disease --- Stress, Psychological --- Models, Psychological --- Model, Mental --- Model, Psychological --- Models, Mental --- Models, Psychologic --- Psychological Models --- Mental Model --- Mental Models --- Model, Psychologic --- Psychologic Model --- Psychologic Models --- Psychological Model --- Psychological Stress --- Stress, Psychologic --- Stressor, Psychological --- Life Stress --- Life Stresses --- Psychologic Stress --- Psychological Stresses --- Psychological Stressor --- Psychological Stressors --- Stress, Life --- Stresses, Life --- Stresses, Psychological --- Stressors, Psychological --- Predisposition, Genetic --- Susceptibility, Genetic --- Genetic Predisposition --- Genetic Susceptibility --- Genetic Predispositions --- Genetic Susceptibilities --- Predispositions, Genetic --- Susceptibilities, Genetic --- Disease Susceptibility --- Genetic Testing --- Anticipation, Genetic --- Genetic Association Studies --- Gene-Environment Interaction --- Madness --- Mental diseases --- Mental disorders --- Disabilities --- Psychology, Pathological --- Mental health --- Genetic aspects --- genetics --- psychology