Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Genetic screen”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 487 records · Page 27Linked to original sources
PubMed2006

Acceptance of fragile X premutation genetic screening in women with ovarian dysfunction.

OBJECTIVE: The purpose of this study was to assess patient perception of fragile X premutation genetic testing (FRAX). STUDY DESIGN: This was a cross-sectional survey of women with elevated follicle stimulating hormone levels with (premature ovarian failure or early menopause [POF/EM], n = 20) or without (diminished ovarian reserve [DOR], n = 20) amenorrhea. Seventy-five percent participated. RESULTS: Seventy-five percent of the DOR group and 43% of the POF/EM group desired FRAX testing. Eighty-three percent wanted to assist the scientific knowledge of FRAX, even if they did not want to know their own results. POF/EM women were more concerned than DOR women about paying out-of-pocket (P = .001) and maintaining confidentiality insurance-wise (P = .07). Primary motivations for women who wanted testing were the desire to know if they have FRAX, and wanting to determine if FRAX is the cause of their ovarian dysfunction. The primary decision factor for those declining testing was unwillingness to pay out-of-pocket (75%). CONCLUSION: Women with ovarian dysfunction are interested in FRAX testing. Cost, confidentiality, and the implications for relatives are their key concerns.

Adult↗
PubMed1981

Genetic screening of compounds used in drug abuse treatment. II. Methadone.

Several compounds used clinically in drug abuse therapy were evaluated for genetic activity in a series of in vivo and in vitro assays. The second report in this series describes the results for one of these compounds, Methadone. A previous report described the results for Naltrexone. Methadone is a synthetic narcotic analgesic used as a substitute for Heroin in drug detoxification programs. Methadone demonstrated weak activity in the E. coli DNa repair system and in the Neurospora crassa and the mouse lymphoma forward-mutation assays under the conditions of this evaluation. Additional analysis of the ad-3 mutants induced by a related compound, LAAM, in Neurospora indicated that they were the result of a parasexual phenomena rather than forward mutation. Therefore, the methadone-induced ad-3 mutants also may be due to a parasexual phenomena.

Animals↗
PubMed1981

Genetic screening of compounds used in drug abuse treatment. III. LAAM.

Several compounds used clinically in drug abuse therapy were evaluated for genetic activity in a series of in vivo and in vitro assays. This third report in the series describes the results for one of these compounds, LAAM (L-alpha-acetyl methadol). Previous reports described results from a three phase testing program for Naltrexone and Methadone. LAAM is related chemically to the narcotic analgesic oxymorphine, and is related chemically to a narcotic antagonist, naloxone. LAAM exhibited genetic activity in the ad-3 forward-mutation test in Neurospora crassa and also was weakly mutagenic in the mouse lymphoma forward-mutation assay. Further analysis of the ad-3 mutants from N. crassa indicated that they were the result of a parasexual phenomenon rather than forward mutation. There was one confirmed translocation carrier in the heritable translocation study, which by conservative interpretation might imply some germ-cell risk associated with exposure to LAAM.

Animals↗
PubMed1999

General practitioners' views on genetic screening for common diseases.

In a questionnaire survey of 359 general practitioners (response rate 94%), 60% accepted the need to provide genetic services, but far fewer felt competent to do so. Nevertheless, as many as 76% had referred patients to a genetics unit in the past year, and 50% had counselled about genetics.

Alzheimer Disease↗
PubMed2004

A flexible data analysis tool for chemical genetic screens.

High-throughput assays generate immense quantities of data that require sophisticated data analysis tools. We have created a freely available software tool, SLIMS (Small Laboratory Information Management System), for chemical genetics which facilitates the collection and analysis of large-scale chemical screening data. Compound structures, physical locations, and raw data can be loaded into SLIMS. Raw data from high-throughput assays are normalized using flexible analysis protocols, and systematic spatial errors are automatically identified and corrected. Various computational analyses are performed on tested compounds, and dilution-series data are processed using standard or user-defined algorithms. Finally, published literature associated with active compounds is automatically retrieved from Medline and processed to yield potential mechanisms of actions. SLIMS provides a framework for analyzing high-throughput assay data both as a laboratory information management system and as a platform for experimental analysis.

Cyclic AMP Response Element-Binding Protein↗
PubMed2003

Genetic screens and directed evolution for protein solubility.

Overexpressed proteins are often insoluble, and can be recalcitrant to conventional solubilization techniques such as refolding. Directed evolution methods, in which protein diversity libraries are screened for soluble variants, offer an alternative route to obtaining soluble proteins. Recently, several new protein solubility screens have been developed that do not require structural or functional information about the target protein. Soluble protein can be detected in vivo and in vitro by fusion reporter tags. Protein misfolding can be measured in vivo using the bacterial response to protein misfolding. Finally, soluble protein can be monitored by immunological detection. Efficient, well-established strategies for generating and recombining genetic diversity, driven by new screening and selection methods, can furnish correctly folded, soluble protein.

Directed Molecular Evolution↗
PubMed1978

Genetic screening of compounds used in drug abuse treatment. I. Naltrexone hydrochloride.

Several compounds used clinically in drug abuse therapy were evaluated for genetic activity in a series of in vitro assays. This initial report describes the results for one of these compounds, Naltrexone. Nalrexone is a relatively nontoxic drug antagonist related to Naloxone which appears to be effective in diminishing the euphoria and dependence upon heroin in clinical studies. With the exception of weak nonspecific DNA damage observed in an E. coli DNA repair test and possibly with WI-38 cells as well, Naltrexone did not demonstrate significant potential for the induction of gene mutations or chromosomal aberrations under the conditions of this evaluation.

Animals↗