Using Engineered Mouse Models as a Probe for the Genetic Substrates of Developmental Language and Communication Disorders - read free eBook in online reader or directly download on the web page. Select files or add your book in reader. Download and read online ebook Using Engineered Mouse Models as a Probe for the Genetic Substrates of Developmental Language and Communication Disorders write by Peter Perrino. This book was released on 2021. Using Engineered Mouse Models as a Probe for the Genetic Substrates of Developmental Language and Communication Disorders available in PDF, EPUB and Kindle. Among typically developing children, language and communication acquisition occurs rapidly and without formal instruction (i.e., children are not "taught" how to speak). This phenomenon is actually quite remarkable, given that the ability to process, discriminate, and integrate information from multiple sensory, motor, and cognitive domains is essential to establishing speech and language systems. However, effortless language and communication acquisition does not occur for all children. In fact, disruption to any of the core underlying physiological or behavioral processes required for typical language development can cause difficulties and/or delays in acquiring, producing or comprehending language. While it is known that environmental factors influence language and communication development (e.g., deprivation in language input leads to clear delays), genetic influences have also been shown to play a significant role. Indeed, with advancements in genetic screening technology, countless risk genes and loci have been identified and associated with various language-and communication-related neurodevelopmental disorders (NDDs). Experimental study using animal models that allow manipulation of these same genes can provide one approach to demystify genetic contributions to NDDs, including behavioral, physiological, or neuroanatomical outcomes that could inform human pathologies. In the collection of studies presented here we evaluated how genetic manipulations early in development impacted upon neuroanatomy, as well as communicatively-relevant behaviors, in novel as well as previously established transgenic mouse models of language- and communication-NDDs. These transgenic mouse models included: (1) Ush2a heterozygous (HT; implicated in Central auditory processing disorder (CAPD)) and homozygous (KO; implicated in Usher syndrome type 2 (USH2)); (2) Ube3a KO (implicated in Angelman syndrome (AS)); and (3) Kiaa0319 KO (implicated in developmental dyslexia). For each mouse model, we evaluated subjects on a battery of behavioral tasks to measure core underlying behaviors and processes associated with language and communication development (i.e., language-related endophenotypes or "intermediate phenotypes"). These measures included rapid auditory processing, ultrasonic vocalization production, visual perception/discrimination, social interaction, and motor abilities. Additionally, we developed a novel cognitive visual discrimination paradigm aimed to assess higher-order cognitive processing abilities in mice that, in humans, may subserve typical language and communication (e.g., rule-learning and transfer to novel stimuli). Following behavioral testing, we performed comprehensive histological assessments on subjects with manipulations of Ush2a and Kiaa0319 to ascertain whether mutations in these genes also led to alterations in brain development, and whether such disruptions contributed to associated behavioral impairments. Together, our findings shed light on the underlying genetic contributions to language and communication acquisition and development. Ongoing and future research may aid in early genetic screening and associated diagnosis, prognosis, and tailoring of interventions that might help to ameliorate communication and language disorders in humans.
Mouse Models in the Study of Genetic Neurological Disorders
Mouse Models in the Study of Genetic Neurological Disorders - read free eBook in online reader or directly download on the web page. Select files or add your book in reader. Download and read online ebook Mouse Models in the Study of Genetic Neurological Disorders write by Brian Popko. This book was released on 2012-12-06. Mouse Models in the Study of Genetic Neurological Disorders available in PDF, EPUB and Kindle. The number of mouse models that are available for the study of human genetic neurological disorders is large and growing rapidly. Therefore, it was difficult to select the models that were reviewed in this volume. Clearly, there are important models that are not discussed, and perhaps a volume twice this size would have been more appropriate. Moreover, the pace at which new models are being developed and analyzed is rapid. As this volume goes to press, I am sure that additional mouse genes responsible for naturally occurring neurological disorders are being discovered and that many new transgenic and mutant mouse strains are being developed. Therefore, this volume should not be viewed as a comprehensive compendium, but rather as an update of work in progress. It is exhilarating to witness the fast pace at which these models are being established as important tools in the study of basic neuroscience and neurological disorders. It will be even more exciting to see their utilization in the development and testing of therapeutic interventions for these diseases. I would like to thank each of the authors who have contributed to this volume for their time and their expertise. I would also like to thank Drs. Timothy Coetzee and Joshua Corbin for their advice in the selection of the topics covered. I am deeply indebted to Dr. Kunihiko Suzuki, who first approached me with the idea for this volume, for his guidance throughout its preparation.
Genetically Engineered Mice for Cancer Research
Genetically Engineered Mice for Cancer Research - read free eBook in online reader or directly download on the web page. Select files or add your book in reader. Download and read online ebook Genetically Engineered Mice for Cancer Research write by Jeffrey E. Green. This book was released on 2011-12-08. Genetically Engineered Mice for Cancer Research available in PDF, EPUB and Kindle. Genetically-engineered mouse models for cancer research have become invaluable tools for studying cancer biology and evaluating novel therapeutic approaches. This volume focuses on state-of-the-art methods for generating, analyzing and validating such models for studying aspects of human cancer biology. Additionally, these models are emerging as important pre-clinical systems in which to test cancer prevention and therapeutic strategies in order to select compounds for testing in clinical trials.
Mouse Models of Developmental Genetic Disease
Mouse Models of Developmental Genetic Disease - read free eBook in online reader or directly download on the web page. Select files or add your book in reader. Download and read online ebook Mouse Models of Developmental Genetic Disease write by . This book was released on 2011-09-06. Mouse Models of Developmental Genetic Disease available in PDF, EPUB and Kindle. Approximately three percent of newborn humans have congenital anomalies with significant cosmetic and/or functional consequences. Much of our ability to understand what has gone awry in these birth defects rests with development of animal models for them; the mouse has emerged as the model organism of choice for these studies. This volume reviews mouse models of specific developmental genetic diseases, including neural tube defects; cleft lip and/or palate; congenital heart disease; ciliopathies; hereditary deafness and others to provide conceptual insight into congenital anomalies generally. The interplay between clinical observation and murine model systems is expected to yield deep insight into mammalian developmental processes and the emergence of effective preventive and/or therapeutic strategies. Provides busy clinical and basic science researchers a one-stop overview and synthesis of the latest research findings and contemporary thought in the area Allows researchers to compare and contrast disease models and also to learn about what models have been developed for large-scale distribution Allows researchers to evaluate basic differences in mouse and human biology and propose alternate pathways and possible gene interactions of the disease
Behavioral and Neuroanatomical Assessment of Transgenic Mouse Models of Language-related Developmental Disorders
Behavioral and Neuroanatomical Assessment of Transgenic Mouse Models of Language-related Developmental Disorders - read free eBook in online reader or directly download on the web page. Select files or add your book in reader. Download and read online ebook Behavioral and Neuroanatomical Assessment of Transgenic Mouse Models of Language-related Developmental Disorders write by Amanda R Rendall. This book was released on 2017. Behavioral and Neuroanatomical Assessment of Transgenic Mouse Models of Language-related Developmental Disorders available in PDF, EPUB and Kindle. Language encompasses an ability to acquire and integrate complex cognitive systems in order to communicate with others, and inherited factors are thought to play a key role in modulating these emergent skills. In recent years, the role of genetics in language has gained focus and attention, based on accumulating empirical knowledge about the genes, proteins, and cellular machinery involved. In particular, disruption to various mechanisms has been shown to relate to impairments in language -- as seen in neurodevelopmental disorders such as autism, dyslexia and SLI. Mouse models can serve as a useful tool in studying the genetic modulators of related neural circuitry. The central over-arching aim of the current series of studies was to examine behavioral and neuroanatomic profiles of transgenic mice modeled on several established neurodevelopmental disorders (NDDs). We focused on five transgenic murine preparations exhibiting mutations derived from NDD populations characterized by atypical language. These include NDDs with language disability as a core feature of the disorder (e.g., specific language impairment (SLI), dyslexia), or as a sub-type (i.e., only some individuals affected; autism spectrum disorders (ASD)). The transgenic models assessed include: (1) Cntnap2 knock-out (KO; implicated in ASD and SLI); (2) Dyx1c1 conditional forebrain KO (implicated in dyslexia); (3) Ts2-neo model (a mutation associated with ASD); (4) Dcdc2 KO (implicated in dyslexia); and (5) Shank3b KO (associated with ASD). Using these models, we assessed specific links between: (a) genetically driven alterations in neurodevelopment; and (b) anomalies in fundamental non-verbal behaviors subserving aspects of language-learning. Our novel behavioral paradigms were able to tap â€intermediate†language-related behavioral phenotypes in mice. Amanda Rose Rendall – University of Connecticut, 2017 Measures included acoustic processing of rapid and complex stimuli, visual motion perception, sensorimotor functions, social/communicative interactions, and working memory. We also quantified gross neuroanatomy to assess whether neural anomalies correlate with any atypical behaviors. Cumulative findings provide insight about the role of genes critical in the polygenic developmental cascade supporting emergent language, as well as the consequences of disruption to those pathways. Ongoing research may promote enhanced early screening of infants, as well as individualized treatment techniques for neurodevelopmental disorders that include language and communicative impairments.
