Search Results - Mattia Frontini
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Identification of Novel Proteins Co-Purifying with Cockayne Syndrome Group B (CSB) Reveals Potential Roles for CSB in RNA Metabolism and Chromatin Dynamics. by Serena Nicolai, Silvia Filippi, Manuela Caputo, Lubos Cipak, Juraj Gregan, Gustav Ammerer, Mattia Frontini, Daniela Willems, Giorgio Prantera, Adayabalam S Balajee, Luca Proietti-De-Santis
Published in PLoS ONE (2015-01-01)Get full text
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A rare coding mutation in the MAST2 gene causes venous thrombosis in a French family with unexplained thrombophilia: The Breizh MAST2 Arg89Gln variant. by Pierre-Emmanuel Morange, Franck Peiretti, Lenaick Gourhant, Carole Proust, Omar Soukarieh, Anne-Sophie Pulcrano-Nicolas, Ganapathi-Varma Saripella, Luca Stefanucci, Romaric Lacroix, Manal Ibrahim-Kosta, Catherine A Lemarié, Mattia Frontini, Marie-Christine Alessi, David-Alexandre Trégouët, Francis Couturaud
Published in PLoS Genetics (2021-01-01)Get full text
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SNP in human ARHGEF3 promoter is associated with DNase hypersensitivity, transcript level and platelet function, and Arhgef3 KO mice have increased mean platelet volume. by Siying Zou, Alexandra M Teixeira, Myrto Kostadima, William J Astle, Aparna Radhakrishnan, Lukas Mikolaj Simon, Lucy Truman, Jennifer S Fang, John Hwa, Ping-Xia Zhang, Pim van der Harst, Paul F Bray, Willem H Ouwehand, Mattia Frontini, Diane S Krause
Published in PLoS ONE (2017-01-01)Get full text
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Genetic coupling of enhancer activity and connectivity in gene expression control by Helen Ray-Jones, Chak Kei Sung, Lai Ting Chan, Alexander Haglund, Pavel Artemov, Monica Della Rosa, Luminita Ruje, Frances Burden, Roman Kreuzhuber, Anna Litovskikh, Eline Weyenbergh, Zoï Brusselaers, Vanessa Xue Hui Tan, Mattia Frontini, Chris Wallace, Valeriya Malysheva, Leonardo Bottolo, Elena Vigorito, Mikhail Spivakov
Published in Nature Communications (2025-01-01)Get full text
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Human and mouse platelet transcriptomes and proteomes for phenotyping 3474 genes with hemostatic and platelet traits by Jingnan Huang, Federico Marini, Fiorella A. Solari, Frauke Swieringa, Bas de Laat, Ilaria De Simone, Luigi Grassi, Xiang Gui, Kunpeng Li, Elizabeth A. Middleton, Neil V. Morgan, Isabella Provenzale, Carina Santos, Saskia Schols, Sarah Westbury, Albert Sickmann, Matthew T. Rondina, Wolfram Ruf, Mattia Frontini, Johan W. M. Heemskerk
Published in Blood Vessels, Thrombosis & Hemostasis (2025-08-01)Get full text
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Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia by Tadbir K. Bariana, Veerle Labarque, Jessica Heremans, Chantal Thys, Mara De Reys, Daniel Greene, Benjamin Jenkins, Luigi Grassi, Denis Seyres, Frances Burden, Deborah Whitehorn, Olga Shamardina, Sofia Papadia, Keith Gomez, NIHR BioResource, Chris Van Geet, Albert Koulman, Willem H. Ouwehand, Cedric Ghevaert, Mattia Frontini, Ernest Turro, Kathleen Freson
Published in Haematologica (2019-05-01)Get full text
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The common VTE-protective G haplotype of F5 increases factor V-short, TFPI function, and risk of bleeding by Matthew C. Sims, Magdalena Gierula, Jonathan C. Stephens, Alex Tokolyi, Luca Stefanucci, Elodie Persyn, Luanluan Sun, Janine H. Collins, Emma E. Davenport, Emanuele Di Angelantonio, Kate Downes, Michael Inouye, Dirk S. Paul, Will Thomas, Alexander Tolios, Willem H. Ouwehand, Nicholas S. Gleadall, James T. B. Crawley, Adam S. Butterworth, Mattia Frontini, Josefin Ahnström
Published in Blood Advances (2025-01-01)Get full text
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High-throughput elucidation of thrombus formation reveals sources of platelet function variability by Johanna P. van Geffen, Sanne L.N. Brouns, Joana Batista, Harriet McKinney, Carly Kempster, Magdolna Nagy, Suthesh Sivapalaratnam, Constance C.F.M.J. Baaten, Nikki Bourry, Mattia Frontini, Kerstin Jurk, Manuela Krause, Daniele Pillitteri, Frauke Swieringa, Remco Verdoold, Rachel Cavill, Marijke J. E. Kuijpers, Willem H. Ouwehand, Kate Downes, Johan W.M. Heemskerk
Published in Haematologica (2019-06-01)Get full text
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Cell type-specific novel long non-coding RNA and circular RNA in the BLUEPRINT hematopoietic transcriptomes atlas by Luigi Grassi, Osagie G. Izuogu, Natasha A.N. Jorge, Denis Seyres, Mariona Bustamante, Frances Burden, Samantha Farrow, Neda Farahi, Fergal J. Martin, Adam Frankish, Jonathan M. Mudge, Myrto Kostadima, Romina Petersen, John J. Lambourne, Sophia Rowlston, Enca Martin-Rendon, Laura Clarke, Kate Downes, Xavier Estivill, Paul Flicek, Joost H.A. Martens, Marie-Laure Yaspo, Hendrik G. Stunnenberg, Willem H. Ouwehand, Fabio Passetti, Ernest Turro, Mattia Frontini
Published in Haematologica (2020-07-01)Get full text
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A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology by Parsa Akbari, Dragana Vuckovic, Luca Stefanucci, Tao Jiang, Kousik Kundu, Roman Kreuzhuber, Erik L. Bao, Janine H. Collins, Kate Downes, Luigi Grassi, Jose A. Guerrero, Stephen Kaptoge, Julian C. Knight, Stuart Meacham, Jennifer Sambrook, Denis Seyres, Oliver Stegle, Jeffrey M. Verboon, Klaudia Walter, Nicholas A. Watkins, John Danesh, David J. Roberts, Emanuele Di Angelantonio, Vijay G. Sankaran, Mattia Frontini, Stephen Burgess, Taco Kuijpers, James E. Peters, Adam S. Butterworth, Willem H. Ouwehand, Nicole Soranzo, William J. Astle
Published in Nature Communications (2023-08-01)Get full text
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