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Barginear M.F.,Mount Sinai School of Medicine | Jaremko M.,Mount Sinai School of Medicine | Jaremko M.,Athena Diagnostics | Peter I.,Mount Sinai School of Medicine | And 4 more authors.
Clinical Pharmacology and Therapeutics | Year: 2011

Tamoxifen (Tam), the major drug for estrogen receptor (ER)-positive breast cancer, is converted to its active metabolites, Z-and Z′-endoxifen and 4-OH-Tam isomers, primarily by cytochrome P450 CYP2D6. In 117 patients taking 20mg/day of Tam, we determined CYP2D6 genotypes and measured the plasma levels of Tam metabolites. The Z-endoxifen levels increased while Z′-endoxifen levels decreased with increasing metabolizer phenotype activity (MPA) score (P 0.0004). The dosage in patients with endoxifen <40nmol/l and/or CYP2D6 MPA scores of 0 was increased to 30mg/day and their metabolite isomers were monitored for up to 90 days. Of the 24 patients on the increased dose, 90% showed an increase in active isomers by day 60; the rate of increase correlated with the MPA score. Notably, their antiestrogenic activity scores (AASs), which estimate total isomer biologic activity, increased from a baseline median of 17 to 26 at day 60. Further studies involving increasing/decreasing the Tam dosage based on the AAS may determine whether dose adjustment can optimize treatment and improve long-term survival. © 2011 American Society for clinical Pharmacology and therapeutics. Source


Maston G.A.,Howard Hughes Medical Institute | Maston G.A.,Athena Diagnostics | Landt S.G.,Stanford University | Snyder M.,Stanford University | Green M.R.,Howard Hughes Medical Institute
Annual Review of Genomics and Human Genetics | Year: 2012

There has been a recent surge in the use of genome-wide methodologies to identify and annotate the transcriptional regulatory elements in the human genome. Here we review some of these methodologies and the conceptual insights about transcription regulation that have been gained from the use of genome-wide studies. It has become clear that the binding of transcription factors is itself a highly regulated process, and binding does not always appear to have functional consequences. Numerous properties have now been associated with regulatory elements that may be useful in their identification. Several aspects of enhancer function have been shown to be more widespread than was previously appreciated, including the highly combinatorial nature of transcription factor binding, the postinitiation regulation of many target genes, and the binding of enhancers at early stages to maintain their competence during development. Going forward, the integration of multiple genome-wide data sets should become a standard approach to elucidate higher-order regulatory interactions. © 2012 by Annual Reviews. All rights reserved. Source


Eskuri J.M.,University of Iowa | Stanley C.M.,Athena Diagnostics | Moore S.A.,University of Iowa | Mathews K.D.,University of Iowa
Journal of the Peripheral Nervous System | Year: 2012

Mutations in the GARS gene cause Charcot-Marie-Tooth 2D and distal spinal muscular atrophy type V - allelic disorders characterized by predominantly distal upper extremity weakness and atrophy, typically beginning during the second decade of life. We report monozygotic twin girls with onset of weakness in infancy and a previously reported GARS mutation within the anticodon-binding domain. The severity and remarkable similarity in phenotypes of these girls and the reported case suggest that mutations within the anticodon-binding domain are more damaging to aminoacyl tRNA synthetase function than those within other domains of GARS. © 2012 Peripheral Nerve Society. Source


Patent
Athena Diagnostics and Johns Hopkins University | Date: 2014-05-28

The present invention relates to methods of detecting novel mutations in a PKD1 and/or PKD2 gene that have been determined to be associated with autosomal dominant polycystic kidney disease (ADPKD) in order to detect or predict the occurrence of ADPKD in an individual.


News Article | February 24, 2011
Site: www.xconomy.com

Waltham, MA-based Thermo Fisher Scientific (NYSE:TMO) says it has inked deals to sell its Athena Diagnostics and Lancaster Laboratories businesses for a total of $940 million in cash to boost shareholder value. Details about Thermo Fisher’s plans to sell the businesses were leaked to the press last month. Madison, NJ-based lab testing giant Quest Diagnostics has agreed to buy Athena, a Worcester, MA-based provider of gene tests for neurological and other diseases, for $740 million. Eurofins Scientific of Brussels, Belgium, is agreeing taking over Lancaster Labs, the Lancaster, PA-based business that offers contract testing and analysis services to pharmaceutical companies, for $200 million. By posting a comment, you agree to our terms and conditions.

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