Download e-book for iPad: Fragile X Syndrome - A Bibliography and Dictionary for by Philip M. Parker

By Philip M. Parker

ISBN-10: 0497112140

ISBN-13: 9780497112141

ISBN-10: 1429497203

ISBN-13: 9781429497206

In March 2001, the nationwide Institutes of overall healthiness issued the next caution: "The variety of websites supplying health-related assets grows each day. Many websites offer priceless info, whereas others can have info that's unreliable or misleading." moreover, a result of swift raise in Internet-based details, many hours will be wasted looking, settling on, and printing. given that simply the smallest fraction of knowledge facing fragile X syndrome is listed in se's, comparable to www.google.com or others, a non-systematic method of web examine might be not just time eating, but in addition incomplete. This ebook was once created for doctors, scholars, and participants of most people who are looking to behavior clinical study utilizing the main complicated instruments on hand and spending the smallest amount of time doing so.

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Extra info for Fragile X Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers

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These studies will allow an assessment of biochemical processes and modes of regulation associated with dfmrl that will likely be applicable to understanding the in vivo function and regulation of all members of the FMR1 gene family. ; Associate Professor; Human Genetics; Emory University 1784 North Decatur Road, Suite 510 Atlanta, Ga 30322 Timing: Fiscal Year 2005; Project Start 30-SEP-2004; Project End 29-SEP-2007 Summary: OF PROPOSED PROJECT: The applicant proposes to establish a screening program for male infants by utilizing the first well-baby visit at six months of age to recruit the parents into the screening program.

We propose to determine if these endophenotypes can be distinguished in five common inbred mouse strains. We then propose to determine if these endophenotypes are anomalous in knockout mice with known deficits in social behavior, including oxytocin and fosB knockout mice, and the N-methyl-D-aspartate receptor 1 hypomorphic mouse. It is expected that some of the knockout mice will exhibit more profound deficits in these measures than both wild-type littermates and the five inbred strains. By developing new measures of mouse social endophenotypes, the investigators can more precisely delineate the roles of particular genes in social functionality.

S description) Fragile X syndrome is caused by molecular defects in the structure and expression pattern of the FMR1 gene on the X chromosome. It is fairly well accepted that CGG repeat expansion leads to DNA methylation which then inhibits FMR1 activity, but very little is known about how this occurs. In order to decipher this mechanism, the investigators will use transgenic mice and embryonic cell culture systems. Studies on the cis acting elements and trans acting factors which regulate normal DNA methylation in the early embryo will form the basis for investigating the aberrant factors which bring about faulty methylation at the FMR1 locus.

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Fragile X Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker


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