Download Ataxia - A Medical Dictionary, Bibliography, and Annotated by Icon Health Publications PDF

By Icon Health Publications

This can be a 3-in-1 reference publication. It provides an entire scientific dictionary masking enormous quantities of phrases and expressions with regards to ataxia. It additionally provides vast lists of bibliographic citations. eventually, it presents details to clients on the right way to replace their wisdom utilizing numerous net assets. The publication is designed for physicians, clinical scholars getting ready for Board examinations, scientific researchers, and sufferers who are looking to familiarize yourself with learn devoted to ataxia. in case your time is efficacious, this publication is for you. First, you won't waste time looking the net whereas lacking loads of suitable info. moment, the publication additionally saves you time indexing and defining entries. ultimately, you won't waste money and time printing hundreds and hundreds of websites.

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Additional info for Ataxia - A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References

Sample text

The issue of whether carriers of the defective human ATM gene are prone to cancer, especially breast cancer, is a vexed one with epidemiological data supporting an increased cancer risk but ATM mutation data failing to support the population studies. However, it is now evident that when missense mutations are focused upon the association with cancer susceptibility becomes significant. Our recent observations that heterozygotes for a "knock-in" Atm mutant mouse (7666del9, Atm-SRI) are susceptible to cancer provides further support for the results in humans and describes the first mouse model for cancer proneness in carriers of a defective Atm gene.

The concordance of protein data with those obtained by means of human mRNA expression arrays and the functional genomic findings from yeast will be assessed. ; Associate Professor; Pathology and Lab Medicine; University of Pennsylvania 3451 Walnut Street Philadelphia, Pa 19104 Timing: Fiscal Year 2002; Project Start 01-APR-1998; Project End 31-MAR-2004 Summary: (Applicant's Abstract): Friedreich's Ataxia (FRDA) is the most common hereditary ataxia and is associated with mutations in the nuclear gene X25, which encodes the protein frataxin.

The gene whose defect is responsible for A-T, termed ATM (Ataxia Telangiectasia Mutated) was identified by positional cloning. Recently, a second mammalian gene closely related to ATM, termed ATR (Ataxia Telangiectasia Rad-3-related), has been identified. ATM and ATR appear to have complementary but distinct roles in early meiosis, and thus may have partially redundant functions. The hypothesis guiding this proposal is that ATM and ATR are cell cycle checkpoint genes whose products sense DNA damage and transduce this information via an intrinsic protein kinase activity.

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