Integrating Whole Blood Transcriptomic Collection Procedures Into the Current Anti-Doping Testing System, Including Long-Term Storage and Re-Testing of Anti-Doping Samples by Giscard Lima, Giscard Lima, Giscard Lima, Alexander Kolliari-Turner, Alexander Kolliari-Turner, Fernanda Rossell Malinsky, Fergus M. Guppy, Fergus M. Guppy, Renan Paulo Martin, Renan Paulo Martin, Guan Wang, Guan Wang, Sven Christian Voss, Costas Georgakopoulos, Paolo Borrione, Paolo Borrione, Fabio Pigozzi, Fabio Pigozzi, Fabio Pigozzi, Yannis Pitsiladis, Yannis Pitsiladis, Yannis Pitsiladis

“…None of the genes previously identified in rHuEPO administration studies were differently expressed in either long- or short-term storage experiments.Conclusion: RNA quantity, purity, and integrity were not significantly compromised from short- or long-term storage in blood storage tubes lacking RNA stabilization, indicating that transcriptomic analysis could be conducted using anti-doping samples collected or biobanked without RNA preservation.…”
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Cross-Sectional Study to Estimate the Prevalence of Familial Hypercholesterolemia in Selected Regions of the Russian Federation: Relevance, Design of the Study and Initial Characte... by A. N. Meshkov, A. I. Ershova, S. A. Shalnova, A. S. Alieva, S. S. Bazhan, O. L. Barbarash, D. Y. Bogdanov, I. A. Viktorova, Yu. I. Grinshtein, D. V. Duplyakov, O. N. Kalachikova, A. V. Kontsevaya, R. A. Libis, I. V. Medvedeva, V. A. Nevzorova, N. N. Prishchepa, O. P. Rotar, V. N. Serebryakova, I. A. Trubacheva, T. M. Chernykh, E. A. Shutemova, O. M. Drapkina, S. A. Boytsov

“…During the visit, blood is taken for subsequent biobanking, measurement of current blood lipid levels, elimination of secondary forms of hypercholesterolemia (for subsequent determination of liver enzymes, thyroid stimulating hormone) and genetic testing. …”
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Challenges in mapping European rare disease databases, relevant for ML-based screening technologies in terms of organizational, FAIR and legal principles: scoping review by Ralitsa Raycheva, Ralitsa Raycheva, Kostadin Kostadinov, Kostadin Kostadinov, Elena Mitova, Nataliya Bogoeva, Georgi Iskrov, Georgi Iskrov, Georgi Stefanov, Rumen Stefanov, Rumen Stefanov

“…The proportion of publications addressing only good practices, guidelines, and recommendations for overcoming challenges when mapping RD databases in at least one domain was calculated to be 47.9% (n = 35).ConclusionDespite the opportunities provided by innovation – automation, electronic health records, hospital-based information systems, biobanks, rare disease registries and European Reference Networks – the results of the current scoping review demonstrate a diversity of the challenges that must still be addressed, with immediate actions on ensuring better governance of rare disease registries, implementing FAIR principles, and enhancing the EU legal framework.…”
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Placental promoter methylation of DNA repair genes and prenatal exposure to particulate air pollution: an ENVIRONAGE cohort study by Kristof Y Neven, MSc, Nelly D Saenen, PhD, Letitzia Tarantini, MSc, Bram G Janssen, PhD, Wouter Lefebvre, PhD, Charlotte Vanpoucke, MSc, Valentina Bollati, ProfPhD, Tim S Nawrot, ProfPhD

“…Effect estimates are presented as the relative percentage change in methylation for an ambient air pollution increment of one IQR (ie, the difference between the first and third quartiles of exposure in the entire cohort). Findings: 500 biobanked placental DNA samples were randomly selected from 814 pairs of mothers and neonates who were recruited to the cohort between Feb 1, 2010, and Dec 31, 2014, of which 463 samples met the pyrosequencing quality control criteria. …”
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Pathogenetic and Clinical Aspects of Anti-Neutrophil Cytoplasmic Autoantibody-Associated Vasculitides by Peter Lamprecht, Anja Kerstein, Sebastian Klapa, Susanne Schinke, Christian M. Karsten, Xinhua Yu, Xinhua Yu, Marc Ehlers, Jörg T. Epplen, Jörg T. Epplen, Konstanze Holl-Ulrich, Thorsten Wiech, Kathrin Kalies, Tanja Lange, Martin Laudien, Tamas Laskay, Timo Gemoll, Udo Schumacher, Sebastian Ullrich, Sebastian Ullrich, Hauke Busch, Saleh Ibrahim, Nicole Fischer, Katrin Hasselbacher, Ralph Pries, Frank Petersen, Gesche Weppner, Rudolf Manz, Jens Y. Humrich, Relana Nieberding, Gabriela Riemekasten, Antje Müller

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Homologous Recombination Deficiency and Cyclin E1 Amplification Are Correlated with Immune Cell Infiltration and Survival in High-Grade Serous Ovarian Cancer by Lilian van Wagensveld, Juliette O. A. M. van Baal, Maite Timmermans, Duco Gaillard, Lauri Borghuis, Seth B. Coffelt, Efraim H. Rosenberg, Christianne A. R. Lok, Hans W. Nijman, Loes F. S. Kooreman, Joyce Sanders, Marco de Bruijn, Lodewyk F. A. Wessels, Rianne van der Wiel, Christian Rausch, Annegien Broeks, Roy F. P. M. Kruitwagen, Maaike A. van der Aa, Gabe S. Sonke, Philip C. Schouten, Koen K. Van de Vijver, Hugo M. Horlings

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IMPemBra: a phase 2 study comparing pembrolizumab with intermittent/short-term dual MAPK pathway inhibition plus pembrolizumab in patients with melanoma harboring the BRAFV600 muta... by Annegien Broeks, Sofie Wilgenhof, John B A G Haanen, Karolina Sikorska, Christian U Blank, Judith M Versluis, Jan Willem B de Groot, Esmee P Hoefsmit, Elisa A Rozeman, Petros Dimitriadis, Aysegul Sari, Daan van den Broek, Disha Rao, Ruben Lacroix, Lindsay G Grijpink-Ongering, Marta Lopez-Yurda, Birthe C Heeres, Bart A van de Wiel, Claudie Flohil, Stijn W T P J Heijmink, Marieke A Vollebergh, Johannes V van Thienen

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The Long Non-Coding Antisense RNA JHDM1D-AS1 Regulates Inflammatory Responses in Human Monocytes by Erik Malmström, Erik Malmström, Erik Malmström, Hina N. Khan, Hina N. Khan, Cornelis van ‘t Veer, Cornelis van ‘t Veer, Melissa Stunnenberg, Melissa Stunnenberg, Mariska T. Meijer, Mariska T. Meijer, Hisatake Matsumoto, Hisatake Matsumoto, Natasja A. Otto, Natasja A. Otto, Teunis B. H. Geijtenbeek, Teunis B. H. Geijtenbeek, Alex F. de Vos, Alex F. de Vos, Tom van der Poll, Tom van der Poll, Tom van der Poll, Brendon P. Scicluna, Brendon P. Scicluna, Brendon P. Scicluna, Brendon P. Scicluna, Brendon P. Scicluna

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The host response in different aetiologies of community-acquired pneumonia by Alex R. Schuurman, Tom D.Y. Reijnders, Tjitske S.R. van Engelen, Valentine Léopold, Justin de Brabander, Christine van Linge, Michiel Schinkel, Liza Pereverzeva, Bastiaan W. Haak, Xanthe Brands, Maadrika M.N.P. Kanglie, Inge A.H. van den Berk, Renée A. Douma, Daniël R. Faber, Prabath W.B. Nanayakkara, Jaap Stoker, Jan M. Prins, Brendon P. Scicluna, W. Joost Wiersinga, Tom van der Poll

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A Roadmap to Gene Discoveries and Novel Therapies in Monogenic Low and High Bone Mass Disorders by Melissa M. Formosa, Melissa M. Formosa, Dylan J. M. Bergen, Dylan J. M. Bergen, Celia L. Gregson, Antonio Maurizi, Anders Kämpe, Anders Kämpe, Natalia Garcia-Giralt, Wei Zhou, Daniel Grinberg, Diana Ovejero Crespo, M. Carola Zillikens, Graham R. Williams, J. H. Duncan Bassett, Maria Luisa Brandi, Luca Sangiorgi, Susanna Balcells, Wolfgang Högler, Wolfgang Högler, Wim Van Hul, Outi Mäkitie, Outi Mäkitie, Outi Mäkitie

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Validation of SeptiCyte RAPID to Discriminate Sepsis from Non-Infectious Systemic Inflammation by Robert Balk, Annette M. Esper, Greg S. Martin, Russell R. Miller, Bert K. Lopansri, John P. Burke, Mitchell Levy, Steven Opal, Richard E. Rothman, Franco R. D’Alessio, Venkataramana K. Sidhaye, Neil R. Aggarwal, Jared A. Greenberg, Mark Yoder, Gourang Patel, Emily Gilbert, Jorge P. Parada, Majid Afshar, Jordan A. Kempker, Tom van der Poll, Marcus J. Schultz, Brendon P. Scicluna, Peter M. C. Klein Klouwenberg, Janice Liebler, Emily Blodget, Santhi Kumar, Krupa Navalkar, Thomas D. Yager, Dayle Sampson, James T. Kirk, Silvia Cermelli, Roy F. Davis, Richard B. Brandon

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Long-term outcomes of young, node-negative, chemotherapy-naïve, triple-negative breast cancer patients according to BRCA1 status by Yuwei Wang, Gwen M. H. E. Dackus, Efraim H. Rosenberg, Sten Cornelissen, Leonora W. de Boo, Annegien Broeks, Wim Brugman, Terry W. S. Chan, Paul J. van Diest, Michael Hauptmann, Natalie D. ter Hoeve, Olga I. Isaeva, Vincent M. T. de Jong, Katarzyna Jóźwiak, Roelof J. C. Kluin, Marleen Kok, Esther Koop, Petra M. Nederlof, Mark Opdam, Philip C. Schouten, Sabine Siesling, Charlaine van Steenis, Adri C. Voogd, Willem Vreuls, Roberto F. Salgado, Sabine C. Linn, Marjanka K. Schmidt

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Comprehensive analysis of 33 human cancers reveals clinical implications and immunotherapeutic value of the solute carrier family 35 member A2 by Shengshan Xu, Shengshan Xu, Xiguang Chen, Jianxiong Fang, Hongyu Chu, Shuo Fang, Leli Zeng, Hansu Ma, Tianzhi Zhang, Yu Chen, Tao Wang, Xin Zhang, Tao Shen, Youbin Zheng, Dongming Xu, Zhuming Lu, Yihang Pan, Yuchen Liu

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Overview of Cancer Control in Armenia and Policy Implications by Karen Bedirian, Tigran Aghabekyan, Tigran Aghabekyan, Arianna Mesrobian, Shant Shekherdimian, Shant Shekherdimian, Shant Shekherdimian, Shant Shekherdimian, Davit Zohrabyan, Davit Zohrabyan, Liana Safaryan, Liana Safaryan, Lilit Sargsyan, Lilit Sargsyan, Lilit Sargsyan, Armen Avagyan, Armen Avagyan, Armen Avagyan, Lilit Harutyunyan, Lilit Harutyunyan, Lilit Harutyunyan, Astghik Voskanyan, Artashes Tadevosyan, Davit Melik-Nubaryan, Davit Melik-Nubaryan, Parandzem Khachatryan, Parandzem Khachatryan, Tatul Saghatelyan, Tatul Saghatelyan, Mher Kostanyan, Mher Kostanyan, Hovhannes Vardevanyan, Marine Hovhannisyan, Tamara Sarkisian, Tamara Sarkisian, Karine Sargsyan, Karine Sargsyan, Karine Sargsyan, Davit Babikyan, Davit Babikyan, Armen Tananyan, Samvel Danielyan, Samvel Danielyan, Armen Muradyan, Gevorg Tamamyan, Gevorg Tamamyan, Gevorg Tamamyan, Gevorg Tamamyan, Samvel Bardakhchyan, Samvel Bardakhchyan

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Insights from UKCTOCS for design, conduct and analyses of large randomised controlled trials by Menon Usha, Gentry-Maharaj Aleksandra, Burnell Matthew, Apostolidou Sophia, Ryan Andy, Kalsi Jatinderpal K, Singh Naveena, Fallowfield Lesley, McGuire Alistair J, Campbell Stuart, Skates Steven J, Dawnay Anne, Parmar Mahesh, Jacobs Ian J

“…Key aspects were a comprehensive online trial management system which included an electronic data capture system (resulting in an almost paperless trial), biobanking, monitoring and project management modules. …”
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Clinical and Genetic Characteristics of Pediatric Patients with Hypophosphatasia in the Russian Population by Oleg S. Glotov, Kirill V. Savostyanov, Tatyana S. Nagornova, Alexandr N. Chernov, Mikhail A. Fedyakov, Aleksandra N. Raspopova, Konstantin N. Krasnoukhov, Lavrentii G. Danilov, Nadegda V. Moiseeva, Roman S. Kalinin, Victoria V. Tsai, Yuri A. Eismont, Victoria Y. Voinova, Alisa V. Vitebskaya, Elena Y. Gurkina, Ludmila M. Kuzenkova, Irina B. Sosnina, Alexander A. Pushkov, Ilya S. Zhanin, Ekaterina Y. Zakharova

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Obesity-associated changes in molecular biology of primary breast cancer by Ha-Linh Nguyen, Tatjana Geukens, Marion Maetens, Samuel Aparicio, Ayse Bassez, Ake Borg, Jane Brock, Annegien Broeks, Carlos Caldas, Fatima Cardoso, Maxim De Schepper, Mauro Delorenzi, Caroline A. Drukker, Annuska M. Glas, Andrew R. Green, Edoardo Isnaldi, Jórunn Eyfjörð, Hazem Khout, Stian Knappskog, Savitri Krishnamurthy, Sunil R. Lakhani, Anita Langerod, John W. M. Martens, Amy E. McCart Reed, Leigh Murphy, Stefan Naulaerts, Serena Nik-Zainal, Ines Nevelsteen, Patrick Neven, Martine Piccart, Coralie Poncet, Kevin Punie, Colin Purdie, Emad A. Rakha, Andrea Richardson, Emiel Rutgers, Anne Vincent-Salomon, Peter T. Simpson, Marjanka K. Schmidt, Christos Sotiriou, Paul N. Span, Kiat Tee Benita Tan, Alastair Thompson, Stefania Tommasi, Karen Van Baelen, Marc Van de Vijver, Steven Van Laere, Laura van’t Veer, Giuseppe Viale, Alain Viari, Hanne Vos, Anke T. Witteveen, Hans Wildiers, Giuseppe Floris, Abhishek D. Garg, Ann Smeets, Diether Lambrechts, Elia Biganzoli, François Richard, Christine Desmedt

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Perspective of the GEMSTONE Consortium on Current and Future Approaches to Functional Validation for Skeletal Genetic Disease Using Cellular, Molecular and Animal-Modeling Techniqu... by Martina Rauner, Martina Rauner, Ines Foessl, Melissa M. Formosa, Melissa M. Formosa, Erika Kague, Vid Prijatelj, Vid Prijatelj, Vid Prijatelj, Nerea Alonso Lopez, Bodhisattwa Banerjee, Dylan Bergen, Dylan Bergen, Björn Busse, Ângelo Calado, Eleni Douni, Eleni Douni, Yankel Gabet, Natalia García Giralt, Daniel Grinberg, Nika M. Lovsin, Xavier Nogues Solan, Barbara Ostanek, Nathan J. Pavlos, Fernando Rivadeneira, Ivan Soldatovic, Jeroen van de Peppel, Bram van der Eerden, Wim van Hul, Susanna Balcells, Janja Marc, Sjur Reppe, Sjur Reppe, Sjur Reppe, Kent Søe, Kent Søe, Kent Søe, David Karasik, David Karasik

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Selected Abstracts of the 15th International Workshop on Neonatology and the 40th Congress UMEMPS (Union of Middle-Eastern and Mediterranean Pediatric Societies); Cagliari (Italy);... by --- Various Authors

“…Walsh (Dublin, Republic of Ireland) ABS 63 • FROM TRIALS TO RESEARCH BASED ON BIOBANKING. THE PATH LAUNCHED IN ASL LECCE • P. Paladini, E. …”
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