• mutations
  • We use a pseudo infinite-sites model for mutations ( i.e. , where the number of sites is finite but new mutations can appear only at nonpolymorphic locations) and a finite-sites model for recombination and remove locations that are no longer polymorphic, at regular intervals. (genetics.org)
  • The total number of new mutations added to a chromosome in any particular generation is modeled as a Poisson random variable with mean equal to the per-generation per-sequence mutation rate u . (genetics.org)
  • It has been proposed that autism spectrum disorders are caused by combinations of multiple genetic variants, or mutations that affect many essential genes to shape different aspects of cognition and behavior. (autismspeaks.org)
  • Scientists in the laboratory of Lauren Weiss, PhD, an associate professor of psychiatry and member of the Institute for Human Genetics at UCSF, looked at genetic mutations that cause either the deletion or duplication of a region of DNA on chromosome 16 that includes 29 genes implicated in important cellular functions in the brain. (ucsf.edu)
  • mutation
  • Some mice with a genetic mutation for mahogany-colored coats also develop spongiform degeneration of brain tissue, similar to mad cow disease. (innovations-report.com)
  • The researchers again created neurons from cells donated by patients who carry a genetic mutation, this time in a critical signaling pathway that is necessary in every cell in the body. (ucsf.edu)
  • The mutation causes an extremely rare genetic disease called cardiofaciocutaneous (CFC) syndrome, which is characterized by abnormal development of the heart, facial features, skin and hair. (ucsf.edu)
  • This strain improves upon existing models and allows in vivo functional assessments of a clinically relevant mutation involved in FTD. (sciencemag.org)
  • Populations diverge from each other as a result of evolutionary forces such as genetic drift, natural selection, mutation, and migration. (uconn.edu)
  • The origins of these mean field computational techniques can be traced to 1950 and 1954 with the work of Alan Turing on genetic type mutation-selection learning machines and the articles by Nils Aall Barricelli at the Institute for Advanced Study in Princeton, New Jersey. (wikipedia.org)
  • Carcinogenesis is caused by mutation and epimutation of the genetic material of normal cells, which upsets the normal balance between proliferation and cell death. (wikipedia.org)
  • Genetic and epigenetic changes can occur at many levels, from gain or loss of entire chromosomes, to a mutation affecting a single DNA nucleotide, or to silencing or activating a microRNA that controls expression of 100 to 500 genes. (wikipedia.org)
  • disorders
  • Because of this oddity, the mice could be valuable animal models for human disorders, such as Parkinson's and Alzheimer's diseases, according to geneticists at Cornell and Stanford universities. (innovations-report.com)
  • It is recognized that developing valid animal models is essential for the research on the neurobiological mechanisms of (and treatments for) psychiatric disorders, even when these are as complex as schizophrenia. (scirp.org)
  • JUPITER, FL, - Working with a group of national and international researchers, scientists from the Florida campus of The Scripps Research Institute have developed a new genetic model of premature aging disorders that could shed light on these rare conditions in humans and provide a novel platform for large-scale screening of compounds to combat these and other age-related diseases. (healthcanal.com)
  • In the new study, which was published this month in the open-access publication PLoS ONE, the scientists found a way to use zebrafish (Danio rerio) to model two rare human genetic disorders: Hutchinson-Gilford Progeria Syndrome and laminopathies. (healthcanal.com)
  • The laminopathies are a cluster of at least 13 different genetic disorders, whose symptoms range from muscular dystrophy to premature aging. (healthcanal.com)
  • All these mutants share advantages for experimental study in that the pathology is limited to the myelin, their genetic nature presages likely abnormality of protein structure, serial developmental analysis is possible, and dilfereuees in both phenotype and genotype of myelin disorders have been shown. (springer.com)
  • Understanding the changes that have occurred during organism's evolution can reveal the genes needed to construct parts of the body, genes which may be involved in human genetic disorders. (wikipedia.org)
  • evolutionary
  • In this review, we describe the tools for the use of Tetrahymena as a model eukaryote, including an overview of its life cycle, orientation to its evolutionary roots, and methodological approaches to forward and reverse genetics. (genetics.org)
  • Genetic canalisation could allow for evolutionary capacitance, where genetic diversity outside the canal accumulates in a population over time, sheltered from natural selection because it does not normally affect phenotypes. (wikipedia.org)
  • Evolutionary programming was introduced by Lawrence J. Fogel in the US, while John Henry Holland called his method a genetic algorithm. (wikipedia.org)
  • Together with Martin Nowak at Harvard University, he developed many mathematical models to understand the evolutionary process of cancer which lead to various hypotheses about mechanisms and timing of progression and seeding of metastases. (wikipedia.org)
  • gene
  • In this Phase 1 STTR we propose to generate a pig model of metabolic syndrome and rapid atherosclerosis by knocking out the low density lipoprotein receptor gene in a strain of minipigs (Ossabaw) with a genetic propensity for Type 2 diabetes. (sbir.gov)
  • PUBLIC HEALTH RELEVANCE: This STTR proposes to create a pig model of metabolic syndrome and rapid atherosclerosis by knocking out the low density lipoprotein receptor (LDLR) gene in the Ossabaw minipig. (sbir.gov)
  • While efforts should be made to evaluate the predictive validity of these genetic rat models, we propose that they have the advantage (over mouse knockouts, for example) of better representing "normal" genetic, neurobiological and phenotype variation, thus allowing the study of associations among them by means of genetic mapping or gene expression studies. (scirp.org)
  • The second modelling is more compact since the unique place abstracts the cell in which each token represents a specific gene and its expression level. (unice.fr)
  • The growing suite of molecular-genetic and genomic tools described here provides a system to couple gene discovery to mechanistic dissections of gene function in the cell. (genetics.org)
  • The second mechanism is a "toxic gain of function" of the DUX4 gene, which is the first time in genetic research that a "dead gene" has been found to "wake up" and cause disease. (wikipedia.org)
  • On 19 August 2010, a paper entitled A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy was published in Science showing that the candidate gene DUX4 undergoes a "toxic gain of function" as a result of single nucleotide polymorphisms in the region distal to the last D4Z4 repeat. (wikipedia.org)
  • developmental
  • As several recent works have already reviewed the main behavioural and developmental models, as well as the most used drug-induced, lesion-induced and genetic mouse models, the present review focuses on describing the most relevant genetically-based rat models of schizophrenia-relevant symptoms. (scirp.org)
  • However, theoretical models that incorporate a complex genotype-phenotype map have found evidence for the evolution of phenotypic robustness contributing to genetic assimilation, even when selection is only for developmental stability and not for a particular phenotype, and so the quantitative genetics models do not apply. (wikipedia.org)
  • molecular
  • A related article published by Weiss's group on Nov. 21, 2017, in Molecular Psychiatry developed a second novel genetic model of autism. (ucsf.edu)
  • Resampled or Reconfiguration Monte Carlo methods) for estimating ground state energies of quantum systems (in reduced matrix models) is due to Jack H. Hetherington in 1984 In molecular chemistry, the use of genetic heuristic-like particle methods (a.k.a. pruning and enrichment strategies) can be traced back to 1955 with the seminal work of Marshall. (wikipedia.org)
  • This hidden diversity could then be unleashed by extreme changes in the environment or by molecular switches, releasing previously cryptic genetic variation that can then contribute to a rapid burst of evolution. (wikipedia.org)
  • Molecular studies of these viruses can now be achieved using genetic approaches to mutate the BAC while it resides in bacteria. (wikipedia.org)
  • Her career focuses primarily on investigating the molecular and genetic mechanisms of the circadian clock. (wikipedia.org)
  • Since joining the Ludwig Maximilians University of Munich in 1996, Merrow has investigated molecular and genetic mechanisms of the circadian clock as well as daily human behavior and medical psychology. (wikipedia.org)
  • 2004: Received Aschoff's Rule prize from EBRS (European Biological Rhythms Society) 2004: Rosalind Franklin Research Fellowship at University of Groningen 2006: Became Full Professor of Molecular and Genetic Chronobiology at University of Groningen 2006: VICI Award 2011: Awarded OnTime Grant 2012: Became Chair of Institute for Medical Psychology at Ludwig Maximilians University of Munich 2014: Produced a Coursera on Chronobiology Some of Merrow's publications include: Till Roenneberg & Martha Merrow (2016). (wikipedia.org)
  • variation
  • Improved understanding of the assembly and maintenance of myelin is afforded by the study of animals in which interference with these processes occurs as a result of genetic variation, toxic exposure, immunological attack, viral infection, nutritional or endocrine deficiency, and physical or circulatory insult. (springer.com)
  • Because loci associated with one another physically are likely to show similar patterns of variation, we introduce conditional autoregressive (CAR) models to incorporate the local correlations among loci. (uconn.edu)
  • statistical
  • In statistics, a Pólya urn model (also known as a Pólya urn scheme or simply as Pólya's urn), named after George Pólya, is a type of statistical model used as an idealized mental exercise framework, unifying many treatments. (wikipedia.org)
  • approaches
  • This model will set the stage for future work that investigates therapeutic approaches for restoring TREM2 function. (sciencemag.org)
  • This formalism allows us to unify the modelling of both approaches, to take advantage of all results and tools in the field of high level Petri nets like the model checking tool Maria and to prevent the explosion of the number of places. (unice.fr)
  • Such genetic approaches rely on either linear or circular targeting vectors to carry out homologous recombination. (wikipedia.org)
  • phenotype
  • The complexity of symptoms (positive, negative and cognitive) of schizophrenia makes it a very difficult task for a model to mimic all the main features of the disorder, but some rodent (mouse and rat) models have behavioural and even neurobiological phenotype characteristics resembling positive-like symptoms, cognitive symptoms and some neurochemical features of schizophrenia. (scirp.org)
  • Through this process of genetic assimilation, an environmentally induced phenotype had become inherited. (wikipedia.org)
  • zebrafish
  • Intriguingly, the study also found that farnestyl transferase inhibitor (FTI), a new class of anti-cancer drugs, reduced abnormalities in the nuclear membrane and prevented significant aging in the embryonic zebrafish models, which survived to adulthood but with a shortened lifespan. (healthcanal.com)
  • The first author of the study, "Embryonic Senescence and Laminopathies in a Progeroid Zebrafish Model," is Eriko Koshimizu of Harvard University and the Tokyo University of Marine Science and Technology. (healthcanal.com)
  • mutant
  • Cornell geneticist Teresa Gunn displays a mahoganoid mutant mouse, a possible animal model for brain disease in humans. (innovations-report.com)
  • As an animal model, the mahoganoid mutant mice probably will not be useful to study spongiform encephalopathies like mad cow disease, Gunn believes, because rogue prions are not the cause of the mouse condition. (innovations-report.com)
  • Mutant animals are particularly suitable for the biochemical approach, since they make it possible to obtain genetic homogeneity, sufficient quantities for experimental use, and strict control of their nutrition and environment. (springer.com)
  • mechanisms
  • Thank you for your interest in spreading the word on Disease Models & Mechanisms. (biologists.org)
  • Message Body (Your Name) thought you would like to see the Disease Models & Mechanisms web site. (biologists.org)
  • To be considered a valid analogue of the disorder, a given model should present good face validity ( i.e . similarity of symptoms), good predictive validity ( i.e . similarity of treatment effects and potential for discovering novel treatments) and enough construct validity ( i.e . the model should help discover neurobiological mechanisms underlying the disorder or some relevant symptoms). (scirp.org)
  • loci
  • However, despite their inefficiency, forward simulations are necessary if we wish to simulate data sets under complex and realistic biological scenarios ( e.g. , natural selection at multiple linked loci) that are difficult to model accurately using the coalescent. (genetics.org)
  • For certain types of genetic markers, and for single-nucleotide polymorphisms (SNPs), in particular, it is reasonable to presume that genotypes at most loci are selectively neutral. (uconn.edu)
  • We conduct a simulation study to investigate the performance of the models by using different level of population divergence and number of loci included in the analysis. (uconn.edu)
  • particle
  • The terminology "propagation of chaos" originated with the work of Mark Kac in 1976 on a colliding mean field kinetic gas model The theory of mean field interacting particle models had certainly started by the mid-1960s, with the work of Henry P. McKean Jr. on Markov interpretations of a class of nonlinear parabolic partial differential equations arising in fluid mechanics. (wikipedia.org)
  • We also quote an earlier pioneering article by Theodore E. Harris and Herman Kahn, published in 1951, using mean field but heuristic-like genetic methods for estimating particle transmission energies. (wikipedia.org)
  • The origins of Quantum Monte Carlo methods are often attributed to Enrico Fermi and Robert Richtmyer who developed in 1948 a mean field particle interpretation of neutron-chain reactions, but the first heuristic-like and genetic type particle algorithm (a.k.a. (wikipedia.org)
  • trait
  • Once a preference becomes established, females choosing males with elaborate secondary sexual traits will produce sons that carry alleles for the trait and daughters that carry alleles for the preference, generating genetic coupling that will drive self-reinforcing coevolution of both trait and preference, due to the mating advantage of males with the trait, creating a Fisherian runaway sexy sons process. (wikipedia.org)
  • He extensively explores this apparently sex-limited trait from a genetic perspective in this ground-breaking 50 page paper. (wikipedia.org)
  • particular
  • Note that in some sense, the Pólya urn model is the "opposite" of the model of sampling without replacement, where every time a particular value is observed, it is less likely to be observed again, whereas in a Pólya urn model, an observed value is more likely to be observed again. (wikipedia.org)
  • Note also that in a Pólya urn model, successive acts of measurement over time have less and less effect on future measurements, whereas in sampling without replacement, the opposite is true: After a certain number of measurements of a particular value, that value will never be seen again. (wikipedia.org)
  • occurs
  • Genomic amplification occurs when a cell gains many copies (often 20 or more) of a small chromosomal region, usually containing one or more oncogenes and adjacent genetic material. (wikipedia.org)
  • studies
  • BACs are preferred for these kind of genetic studies because they accommodate much larger sequences without the risk of rearrangement, and are therefore more stable than other types of cloning vectors. (wikipedia.org)
  • animal models
  • 2012) From Antipsychotic to Anti-Schizophrenia Drugs: Role of Animal Models. (scirp.org)
  • Although there are several theories, the use of animal models has provided new insight on spike-and-wave discharge in humans. (wikipedia.org)
  • reveals
  • Model comparison using several criteria, including DIC and LPML, reveals that CAR models are superior to alternative models for the data used in the analysis. (uconn.edu)
  • symptoms
  • Evidence is presented for the effects of genetic background on PPI (and other symptoms/phenotypes), as well as for environmental influences on genetic predisposition to enhanced apomorphine (mixed dopamine receptor agonist) effects. (scirp.org)
  • biological
  • There is a need to model biological systems to aid in medication and drug delivery. (army.mil)
  • Because of the complexity of the interweaving retroactions, the overall behavior is difficult to grasp and the development of formal methods is needed in order to confront the supposed properties of the biological system to the model. (unice.fr)
  • Tetrahymena thermophila is a ciliate model organism whose study has led to important discoveries and insights into both conserved and divergent biological processes. (genetics.org)
  • The ciliate Tetrahymena thermophila is a model system that combines the power of forward and reverse genetics with a suite of useful biochemical and cell biological attributes. (genetics.org)
  • T. thermophila ( Figure 1 ) is a ciliate model organism whose study has led to fundamental biological insights covering the central dogma and beyond. (genetics.org)
  • In this review, we discuss major biological questions to which T. thermophila is amenable and the genetic tools available to answer them. (genetics.org)
  • generate
  • used CRISPR/Cas9 genome editing to generate a mouse model of FTD-like syndrome. (sciencemag.org)
  • The classical approach is then to generate all Petri nets corresponding to all remaining sets of parameter values and to confront each model to the available knowledge or hypothesis. (unice.fr)
  • time
  • We present an exact forward-in-time algorithm that can efficiently simulate the evolution of a finite population under the Wright-Fisher model. (genetics.org)
  • Forward simulations, in contrast, model the evolution of all the sequences in a population exactly, forward in time and generation by generation. (genetics.org)
  • Similar models have been proposed for postcopulatory female preferences, such as the time at which females removed the male's sperm ampulla after mating. (wikipedia.org)
  • Russell began modeling as a part-time profession in 2003. (wikipedia.org)
  • syndrome
  • However, a marked deficiency in current pig models is that they do not present with metabolic syndrome and significant atherosclerosis, underlying conditions that can drastically alter restenosis and thrombosis. (sbir.gov)
  • The ideal pig model would be of manageable size and manifest both metabolic syndrome and atherosclerosis at an early age. (sbir.gov)
  • parameters
  • We find that the recombination graph is generally a very good approximation for models with complete outcrossing, whereas, for models with self-fertilization, the approximation becomes slightly inexact for some combinations of selfing and recombination parameters. (genetics.org)
  • robust
  • The last focus of the research is to extend the adaptive modeling technique in a stochastic optimization framework so that robust optimal solutions can be efficiently identified in the presence of parameter uncertainty. (illinois.edu)
  • several
  • During the past decade, considerable work has been carried out on several mouse mutants with genetic defects in and limited to the formation of myelin. (springer.com)
  • Since her debut as a model, she has walked at several fashion shows, for various designers and fashion houses including Chanel, Versace, Prada, Vivienne Westwood, Victoria's Secret, Diane von Fürstenberg and Louis Vuitton among others. (wikipedia.org)
  • human
  • Powell, C.M. and Miyakawa, T. (2006) Schizophrenia-Relevant Behavioral Testing in Rodent Models: A Uniquely Human Disorder? (scirp.org)
  • single
  • We apply the hierarchical-beta models to a subset of single nucleotide polymorphism data from the HapMap project. (uconn.edu)
  • We estimate an assortative mating coefficient, mixture proportions, and regression relationships between environmental factors and the mixture proportions in a single hierarchical model. (uconn.edu)
  • possible
  • It is, however, possible to explain genetic assimilation using only quantitative genetics and a threshold model, with no reference to the concept of canalisation. (wikipedia.org)
  • simulation
  • Both the simulation and application to real data confirm that our model provides a better estimation for the covariate effects. (uconn.edu)
  • characteristics
  • This term is restricted to autosomal traits, and should not be confused with sex-linked characteristics, which have to do with genetic differences on the sex chromosomes (see sex-determination system). (wikipedia.org)
  • data
  • Our algorithm is implemented in the C++ programming language and we simulate data sets under the Wright-Fisher model assumptions. (genetics.org)
  • We apply the CAR models and the beta-hierarchical models to a high resolution SNP data from the HapMap project. (uconn.edu)
  • We apply the model to a data set derived from gray seals in the Orkney Islands. (uconn.edu)
  • We compare our model with a similar model previously used to analyze these data. (uconn.edu)