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  1. No Access

    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...

    L Greenbaum, R C Smith, A Rigbi, R Strous, O Teltsh in The Pharmacogenomics Journal (2009)

  2. Article

    Open Access

    Molecular 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...

    Rim El Abed, Violaine Bourdon, Ilia Voskoboinik in Hereditary Cancer in Clinical Practice (2011)

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    Chapter

    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...

    Heather A. Parsons, Julia A. Beaver in Novel Biomarkers in the Continuum of Breas… (2016)

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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 ...

    N Ben Fredj, R Gam, E Kerkni, A Chaabane, Z Chadly in The Pharmacogenomics Journal (2017)

  5. Article

    Open Access

    Androgen 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...

    Corey Speers, Shuang G. Zhao, Ben Chandler, Meilan Liu in npj Breast Cancer (2017)

  6. Article

    Open Access

    Clinical 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...

    Salomon M. Stemmer, Mariana Steiner, Shulamith Rizel, David B. Geffen in npj Breast Cancer (2017)

  7. Article

    Open Access

    Clinical 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...

    Salomon M. Stemmer, Mariana Steiner, Shulamith Rizel in npj Breast Cancer (2017)

  8. Article

    Open Access

    Molecular 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...

    Ben P. Haynes, Ophira Ginsburg, Qiong Gao, Elizabeth Folkerd in npj Breast Cancer (2017)

  9. Article

    Open Access

    ESR1 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...

    Christine Desmedt, Julien **itore, Françoise Rothé, Caterina Marchio in npj Breast Cancer (2019)

  10. Article

    Open Access

    Ten-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...

    Salomon M. Stemmer, Mariana Steiner, Shulamith Rizel, Noa Ben-Baruch in npj Breast Cancer (2019)

  11. Article

    Open Access

    Menstrual 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...

    Ben P. Haynes, Ophira Ginsburg, Qiong Gao, Elizabeth Folkerd in npj Breast Cancer (2019)

  12. Article

    Open Access

    BCL9/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...

    Hanan S. Elsarraj, Yan Hong, Darlene Limback, Ruonan Zhao in npj Breast Cancer (2020)

  13. Article

    Open Access

    Pharmacogenomic 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...

    Charlotte King, Amanda McKenna, Niloufar Farzan in The Pharmacogenomics Journal (2020)

  14. Article

    Open Access

    Correction: 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.

    Charlotte King, Amanda McKenna, Niloufar Farzan in The Pharmacogenomics Journal (2020)

  15. 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.

    Ibtissem Hannachi, Zohra Chadli, Emna Kerkeni in The Pharmacogenomics Journal (2021)

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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...

    Ibtissem Hannachi, Zohra Chadli, Emna Kerkeni in The Pharmacogenomics Journal (2021)

  17. Article

    Open Access

    Development 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...

    Richard Buus, Zsolt Szijgyarto, Eugene F. Schuster, Hui **ao in npj Breast Cancer (2021)

  18. No Access

    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...

    Mohammed Alshaikheid, Nadia Ben Fredj, Ibtissem Hannachi in The Pharmacogenomics Journal (2021)

  19. No Access

    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...

    Helmi Ammar, Zohra Chadli, Ahmed Mhalla, Sabria Khouadja in The Pharmacogenomics Journal (2021)

  20. Article

    Open Access

    Second 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...

    Shlomit S. Shachar, Michelle Leviov, Rinat Yerushalmi, Karen Drumea in npj Breast Cancer (2023)