Read more about the article The Epigenome View: An Effort towards Non-Invasive Prenatal Diagnosis.
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The Epigenome View: An Effort towards Non-Invasive Prenatal Diagnosis.

Abstract Epigenetic modifications have proven to play a significant role in cancer development, as well as fetal development. Taking advantage of the knowledge acquired during the last decade, great interest…

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Read more about the article Functional genomics evidence unearths new moonlighting roles of outer ring coat nucleoporins.
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Functional genomics evidence unearths new moonlighting roles of outer ring coat nucleoporins.

Abstract There is growing evidence for the involvement of Y-complex nucleoporins (Y-Nups) in cellular processes beyond the inner core of nuclear pores of eukaryotes. To comprehensively assess the range of…

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Read more about the article Evidence for contribution of the y chromosome in atherosclerotic plaque occurrence in men.
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Evidence for contribution of the y chromosome in atherosclerotic plaque occurrence in men.

Abstract Diseases such as atherosclerosis and coronary artery disease demonstrate disparate population prevalence or present with variable severity in men and women. While the usual explanation points to hormonal status,…

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Read more about the article BioTextQuest(+): a knowledge integration platform for literature mining and concept discovery.
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BioTextQuest(+): a knowledge integration platform for literature mining and concept discovery.

Abstract The iterative process of finding relevant information in biomedical literature and performing bioinformatics analyses might result in an endless loop for an inexperienced user, considering the exponential growth of…

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Read more about the article HIV prevalence, sexual and HIV testing behaviors among men who have sex with men in the Republic of Cyprus: 2011-2012 data from a cross-sectional study.
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HIV prevalence, sexual and HIV testing behaviors among men who have sex with men in the Republic of Cyprus: 2011-2012 data from a cross-sectional study.

Abstract The Republic of Cyprus is recognized as a low level HIV epidemic country with strong evidence of an increase in the transmission through the male to male sexual contact.…

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Read more about the article Environmental side effects of pharmaceutical cocktails: what we know and what we should know.
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Environmental side effects of pharmaceutical cocktails: what we know and what we should know.

Abstract Cocktails of pharmaceuticals are released in the environment after human consumption and due to the incomplete removal at the wastewater treatment plants. Pharmaceuticals are considered as contaminants of emerging…

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Read more about the article IthaGenes: an interactive database for haemoglobin variations and epidemiology.
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IthaGenes: an interactive database for haemoglobin variations and epidemiology.

Abstract Inherited haemoglobinopathies are the most common monogenic diseases, with millions of carriers and patients worldwide. At present, we know several hundred disease-causing mutations on the globin gene clusters, in…

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Read more about the article EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies.
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EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies.

Abstract Haemoglobinopathies constitute the commonest recessive monogenic disorders worldwide, and the treatment of affected individuals presents a substantial global disease burden. Carrier identification and prenatal diagnosis represent valuable procedures that…

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Read more about the article FCGR polymorphisms and cetuximab efficacy in chemorefractory metastatic colorectal cancer: an international consortium study.
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FCGR polymorphisms and cetuximab efficacy in chemorefractory metastatic colorectal cancer: an international consortium study.

Abstract We aimed to better clarify the role of germline variants of the FCG2 receptor, FCGR2A-H131R and FCGR3A-V158F, on the therapeutic efficacy of cetuximab in metastatic colorectal cancer (mCRC). A…

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Read more about the article Association between alcohol and cardiovascular disease: Mendelian randomisation analysis based on individual participant data.
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Association between alcohol and cardiovascular disease: Mendelian randomisation analysis based on individual participant data.

Abstract To use the rs1229984 variant in the alcohol dehydrogenase 1B gene (ADH1B) as an instrument to investigate the causal role of alcohol in cardiovascular disease. Mendelian randomisation meta-analysis of…

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