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Article
Further evidence for association of the RGS2 gene with antipsychotic-induced parkinsonism: protective role of a functional polymorphism in the 3′-untranslated region
RGS2 (regulator of G-protein signaling 2) modulates dopamine receptor signal transduction. Functional variants in the gene may influence susceptibility to extrapyramidal symptoms (EPS) induced by antipsychotic...
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Article
Open AccessMolecular study of the perforin gene in familial hematological malignancies
Perforin gene (PRF1) mutations have been identified in some patients diagnosed with the familial form of hemophagocytic lymphohistiocytosis (HLH) and in patients with lymphoma. The aim of the present study was to...
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Circulating Plasma Tumor DNA
Circulating cell-free DNA (ccfDNA)—first identified in 1947—is “naked” DNA that is free-floating in the blood, and derived from both normal and diseased cells. In the 1970s, scientists observed that patients w...
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Article
Risk factors of isoniazid-induced hepatotoxicity in Tunisian tuberculosis patients
Previous studies have shown controversial results on whether acetylator status causes isoniazid-induced hepatotoxicity (IIH). Moreover, the contribution of CYP2E1, a hepatic enzyme implicated in the formation ...
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Article
Open AccessAndrogen receptor as a mediator and biomarker of radioresistance in triple-negative breast cancer
Increased rates of locoregional recurrence have been observed in triple-negative breast cancer despite chemotherapy and radiation therapy. Thus, approaches that combine therapies for radiosensitization in trip...
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Article
Open AccessClinical outcomes in ER+ HER2 -node-positive breast cancer patients who were treated according to the Recurrence Score results: evidence from a large prospectively designed registry
The Recurrence Score® is increasingly used in node-positive ER+ HER2-negative breast cancer. This retrospective analysis of a prospectively designed registry evaluated treatments/outcomes in node-positive brea...
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Article
Open AccessClinical outcomes in patients with node-negative breast cancer treated based on the recurrence score results: evidence from a large prospectively designed registry
The 21-gene Recurrence Score® (RS) assay is a validated prognostic/predictive tool in ER + early-stage breast cancer. However, clinical outcome data from prospective studies in RS ≥ 11 patients are lacking, as...
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Article
Open AccessMolecular changes in premenopausal oestrogen receptor-positive primary breast cancer in Vietnamese women after oophorectomy
For premenopausal women with primary ER + breast cancer, oophorectomy (OvX) is an evidence-based cost-effective option and is standard treatment in many countries. However, there is virtually no data describin...
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Article
Open AccessESR1 mutations in metastatic lobular breast cancer patients
Invasive lobular breast cancer (ILC) represents the second most common histology of breast cancer after invasive ductal breast cancer (IDC), accounts for up to 15% of all invasive cases and generally express t...
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Article
Open AccessTen-year clinical outcomes in N0 ER+ breast cancer patients with Recurrence Score-guided therapy
The 21-gene Recurrence Score (RS) assay is a validated prognosticator/predictor of chemotherapy (CT) benefit in early-stage estrogen receptor (ER)-positive breast cancer (BC). Long-term data from real-life cli...
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Article
Open AccessMenstrual cycle associated changes in hormone-related gene expression in oestrogen receptor positive breast cancer
The major changes in hormone levels that occur through the menstrual cycle have been postulated to affect the expression of hormone-regulated and proliferation-associated genes (PAGs) in premenopausal ER+ brea...
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Article
Open AccessBCL9/STAT3 regulation of transcriptional enhancer networks promote DCIS progression
The molecular processes by which some human ductal carcinoma in situ (DCIS) lesions advance to the more aggressive form, while others remain indolent, are largely unknown. Experiments utilizing a patient-deriv...
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Article
Open AccessPharmacogenomic associations of adverse drug reactions in asthma: systematic review and research prioritisation
A systematic review of pharmacogenomic studies capturing adverse drug reactions (ADRs) related to asthma medications was undertaken, and a survey of Pharmacogenomics in Childhoo...
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Article
Open AccessCorrection: Pharmacogenomic associations of adverse drug reactions in asthma: systematic review and research prioritization
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
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Article
Correction: Influence of CYP3A polymorphisms on tacrolimus pharmacokinetics in kidney transplant recipients
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
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Article
Influence of CYP3A polymorphisms on tacrolimus pharmacokinetics in kidney transplant recipients
Tacrolimus is characterized by a highly variable pharmacokinetics (PK) and a small therapeutic window. It is metabolized specifically by the CYP3A isoenzymes. This study aimed to determine, in kidney transplan...
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Article
Open AccessDevelopment and validation for research assessment of Oncotype DX® Breast Recurrence Score, EndoPredict® and Prosigna®
Multi-gene prognostic signatures including the Oncotype® DX Recurrence Score (RS), EndoPredict® (EP) and Prosigna® (Risk Of Recurrence, ROR) are widely used to predict the likelihood of distant recurrence in p...
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Article
Development of a population pharmacokinetic model and Bayesian estimators for isoniazid in Tunisian tuberculosis patients
This study aimed to develop a population pharmacokinetic model using full pharmacokinetic (PK) profiles of isoniazid (INH) taking into account demographic and genetic covariates and to develop Bayesian estimat...
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Article
Clinical and genetic influencing factors on clozapine pharmacokinetics in Tunisian schizophrenic patients
Clozapine (Clz) is an atypical antipsychotic, which its pharmacokinetics can be influenced by several factors. The CYP1A2 and CYP2C19, major enzymes implicated in Clz metabolism, present an interethnic variati...
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Article
Open AccessSecond breast cancer: recurrence score results, clinicopathologic characteristics, adjuvant treatments, and outcomes—exploratory analysis of the Clalit registry
Data on using the 21-gene Recurrence Score (RS) testing on second breast cancer (BC; second primary or local recurrence) are lacking. This cohort study examined patients with first and second BC, who underwent...