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2009 NOV 24 ... most efficiently induced in G2/M cells irradiated with high LET radiation. These entire exon deletions were not as frequent in cells exposed to lower LET radiation. This suggests ...
2009 NOV 23 ... reporter assay in Hep3B cells. Allele frequency at polymorphisms within CRP promoter and exon in our Korean patients with SLE differed from that of Caucasians. The A allele was a ...
2009 NOV 24 ... investigators in Nagoya, Japan report. "A specific MYH9 mutation in exon 16, R705H, causes nonsyndromic deafness DFNA17. We searched for mutations in MYH9 exons ...
2009 NOV 23 ... cardiac death with the worst prognosis observed in carriers of Ala157Val mutation in exon 7. In contrast, TNNT2-HCM was associated with favorable prognosis," wrote K. Curila and ...
2009 NOV 23 ... with borderline ovarian cancer. The c.2999delCT, consists of a deletion of two bases in exon 11, in the limits of the ovarian cancer cluster region. This is a frameshift mutation ...
2009 NOV 23 ... In other cells, constitutive Mdm2 expression is regulated by the P1 promoter (5' to exon 1), with inducible expression regulated by the P2 promoter (in intron 1). In myocytes, ...
2009 NOV 23 ... According to a study from Izatnagar, India, "A 396 bp fragment encompassing exon 5 of Insulin like growth factor I (IGF1) gene and 652 bp fragment encompassing...
2009 NOV 23 ... nondystrophic myotonias, and ryanodinopathies continues to grow with the advent of exon hierarchy analysis strategies for genetic screening and better understanding and ...
2009 NOV 23 ... splicing silencer at the 3' end of human immunodeficiency virus type 1 (HIV-1) tat exon 3, which is a high-affinity site, is followed by cooperative spreading in a 3'-to-5' ...
2009 NOV 27 ... exoribonuclease. Because an RNA-binding assay also showed weak binding to the clpP first exon-intron region, PpPPR_38 is likely to be related to the splicing of clpP pre-mRNA," ...
2009 NOV 24 ... disorder resulting from polyglutamine (polyQ) expansion (>36Q) within the first exon of Huntingtin (Htt) protein. We applied X-ray crystallography to determine the secondary ...
2009 NOV 23 ... highlight two emerging therapies designed to repair the primary genetic defect, called 'exon skipping' and 'nonsense codon suppression'," scientists in the United States report. ...
2009 NOV 24 ... caused by Rnq1-green fluorescent protein (GFP) and a huntingtin's protein exon-1 fragment with an expanded polyglutamine tract (Htt-103Q), which is dependent upon the ...
2009 NOV 23 ... SNP (rs33959637, IVS5-59), and a missense coding single nucleotide polymorphism (SNP) in exon 6 (rs3747531, P275A) in 136 nondiabetic Ashkenazi men under age 55 years (mean = 47.3 ...
2009 NOV 23 ... for these nongenetic covariates, we found that patients with CC genotypes for PTGS2 exon 10+837T >C (rs5275) were at lower risk for severe pain (OR, 0.33; 95% Cl, 0.11-0.97) ...
2009 NOV 23 ... rs3807375, and rs2968857 with AF. However, we determined that the tSNP, rs1805120, in exon 6 confers the risk of AF in Chinese Hans. Both genotype and allele frequencies of ...
2009 NOV 23 ... A genetic study showed a novel nonsense homozygous mutation of the IL12RB1 gene in exon 4 (402C >A), confirming the diagnosis of IL-12R beta 1 deficiency," wrote V. ...
2009 NOV 27 ... to recent research from the United States, "TDP-43 is a nuclear protein involved in exon skipping and alternative splicing. Recently, TDP-43 has been identified as the ...
2009 NOV 23 ... Korean families with HSP-TCC. Direct sequencing of the 40 coding exons and boundaries of exon-intron in SPG11 gene, and descriptions of clinical findings in two nonconsanguineous ...
2009 NOV 23 ... of NLGN3 and NLGN4 genes, we identified the p.K378R substitution (c.1597 A> G) in exon 5 of the NLGN4 gene in a patient who was found to have mild autism and normal IQ at 3 ...
