COLLEGE OF MEDICINE AND HEALTH
Medicine, Nursing and Allied Health Professions

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Mattia Frontini

Associate Professor of Cell Biology

 

Overview

Mattia has a long-standing interest in the regulation of gene expression in mammalians. Trained with Professor Roberto Mantovani in Milano (BSc) and Modena (PhD). He was a Marie Skłodowska-Curie fellow with Dr Laszlo Tora at the IGBMC in Strasbourg, then an MRC staff scientist in London.

In 2011 he moved to Cambridge where he established his research group and became a British Heart Foundation Senior Fellow before moving to Exeter.

Qualifications

  • BSc in Molecular Biology, University of Milano
  • PhD in Biotechnology and Molecular Medicine, University of Modena

Research

Research interests

Mattia Frontini’s group research interest is focused on understanding the role of human genetic variation in cardiovascular disease. In particular, how non-coding genetic variants affecting gene expression have then an effect on endothelial cells, platelets and megakaryocytes (the platelet precursor) functional phenotypes. The overarching aim being to stratify the population and help to understand which individuals will benefit most of the different available treatments.

To this aim we collaborate with many other research groups and employ several strategies: from large dataset analysis, to genome editing and functional assays in induced pluripotent stem cells derived endothelial cells and megakaryocytes to recall by genotype and ex vivo assay on the blood of individuals with a particular genetic make-up.

ORCID 0000-0001-8074-6299

Research projects

  • Role of megakaryocyte and endothelial cell shared super enhancers in determining prothrombotic phenotypes.
  • Pre-clinical evaluation of bet inhibitors as novel anti-inflammatory treatment for cystic fibrosis.

Grants/Funding:

  • British Heart Foundation
  • GSK Varsity program

Publications

Key publications | Publications by category | Publications by year

Publications by category


Journal articles

Choudry F, Bagger FO, Macaulay IC, Farrow S, Burden F, Kempster C, McKinney H, Olsen LR, Huang N, Downes K, et al (In Press). Single Cell Transcriptional Characterization of Human Megakaryocyte Lineage Commitment and Maturation.
Constantinescu-Bercu A, Grassi L, Frontini M, Salles-Crawley II, Woollard K, Crawley JT (2020). Activated αIIbβ3 on platelets mediates flow-dependent NETosis via SLC44A2. Elife, 9 Abstract.  Author URL.
Thaventhiran JED, Lango Allen H, Burren OS, Rae W, Greene D, Staples E, Zhang Z, Farmery JHR, Simeoni I, Rivers E, et al (2020). Whole-genome sequencing of a sporadic primary immunodeficiency cohort. Nature Abstract.
Hoogendijk AJ, Pourfarzad F, Aarts CEM, Tool ATJ, Hiemstra IH, Grassi L, Frontini M, Meijer AB, van den Biggelaar M, Kuijpers TW, et al (2019). Dynamic Transcriptome-Proteome Correlation Networks Reveal Human Myeloid Differentiation and Neutrophil-Specific Programming. Cell Reports, 29(8), 2505-2519.e4. Abstract.
Rhodes CJ, Batai K, Bleda M, Haimel M, Southgate L, Germain M, Pauciulo MW, Hadinnapola C, Aman J, Girerd B, et al (2019). Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis. LANCET RESPIRATORY MEDICINE, 7(3), 227-238. Author URL.
Lentaigne C, Greene D, Sivapalaratnam S, Favier R, Seyres D, Thys C, Grassi L, Mangles S, Sibson K, Stubbs M, et al (2019). Germline mutations in the transcription factor IKZF5 cause thrombocytopenia. Blood, 134(23), 2070-2081. Abstract.
Van Geffen JP, Brouns SLN, Batista J, McKinney H, Kempster C, Nagy M, Sivapalaratnam S, Baaten CCFMJ, Bourry N, Frontini M, et al (2019). High-throughput elucidation of thrombus formation reveals sources of platelet function variability. Haematologica, 104(6), 1256-1267. Abstract.
Bariana TK, Labarque V, Heremans J, Thys C, De Reys M, Greene D, Jenkins B, Grassi L, Seyres D, Burden F, et al (2019). Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia. Haematologica, 104(5), 1036-1045. Abstract.
Grassi L, Pourfarzad F, Ullrich S, Merkel A, Were F, Carrillo-de-Santa-Pau E, Yi G, Hiemstra IH, Tool ATJ, Mul E, et al (2018). Dynamics of Transcription Regulation in Human Bone Marrow Myeloid Differentiation to Mature Blood Neutrophils. Cell Reports, 24(10), 2784-2794. Abstract.
Iotchkova V, Huang J, Morris JA, Jain D, Barbieri C, Walter K, Min JL, Chen L, Astle W, Cocca M, et al (2018). Erratum to: Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps (Nature Genetics, (2016), 48, 11, (1303-1312), 10.1038/ng.3668). Nature Genetics, 50(12). Abstract.
Moris N, Edri S, Seyres D, Kulkarni R, Domingues AF, Balayo T, Frontini M, Pina C (2018). Histone Acetyltransferase KAT2A Stabilizes Pluripotency with Control of Transcriptional Heterogeneity. Stem Cells, 36(12), 1828-1838. Abstract.
Caputo M, Balzerano A, Arisi I, D'Onofrio M, Brandi R, Bongiorni S, Brancorsini S, Frontini M, Proietti-De-Santis L (2017). CSB ablation induced apoptosis is mediated by increased endoplasmic reticulum stress response. PLoS ONE, 12(3). Abstract.
Burren OS, Rubio García A, Javierre BM, Rainbow DB, Cairns J, Cooper NJ, Lambourne JJ, Schofield E, Castro Dopico X, Ferreira RC, et al (2017). Chromosome contacts in activated T cells identify autoimmune disease candidate genes. Genome Biology, 18(1). Abstract.
Tarkin JM, Joshi FR, Evans NR, Chowdhury MM, Figg NL, Shah AV, Starks LT, Martin-Garrido A, Manavaki R, Yu E, et al (2017). Detection of Atherosclerotic Inflammation by <sup>68</sup>Ga-DOTATATE PET Compared to [<sup>18</sup>F]FDG PET Imaging. Journal of the American College of Cardiology, 69(14), 1774-1791. Abstract.
Ecker S, Chen L, Pancaldi V, Bagger FO, Fernández JM, Carrillo de Santa Pau E, Juan D, Mann AL, Watt S, Casale FP, et al (2017). Genome-wide analysis of differential transcriptional and epigenetic variability across human immune cell types. Genome Biology, 18(1). Abstract.
Guo BB, Allcock RJ, Mirzai B, Malherbe JA, Choudry FA, Frontini M, Chuah H, Liang J, Kavanagh SE, Howman R, et al (2017). Megakaryocytes in Myeloproliferative Neoplasms Have Unique Somatic Mutations. American Journal of Pathology, 187(7), 1512-1522. Abstract.
Petersen R, Lambourne JJ, Javierre BM, Grassi L, Kreuzhuber R, Ruklisa D, Rosa IM, Tomé AR, Elding H, Van Geffen JP, et al (2017). Platelet function is modified by common sequence variation in megakaryocyte super enhancers. Nature Communications, 8 Abstract.
Harvey E, Zhang H, Sepúlveda P, Garcia SP, Sweeney D, Choudry FA, Castellano D, Thomas GN, Kattach H, Petersen R, et al (2017). Potency of human cardiosphere-derived cells from patients with ischemic heart disease is associated with robust vascular supportive ability. Stem Cells Translational Medicine, 6(5), 1399-1411. Abstract.
Zou S, Teixeira AM, Kostadima M, Astle WJ, Radhakrishnan A, Simon LM, Truman L, Fang JS, Hwa J, Zhang PX, et al (2017). SNP in human ARHGEF3 promoter is associated with DNase hypersensitivity, transcript level and platelet function, and Arhgef3 KO mice have increased mean platelet volume. PLoS ONE, 12(5). Abstract.
Farlik M, Halbritter F, Müller F, Choudry FA, Ebert P, Klughammer J, Farrow S, Santoro A, Ciaurro V, Mathur A, et al (2016). DNA Methylation Dynamics of Human Hematopoietic Stem Cell Differentiation. Cell Stem Cell, 19(6), 808-822. Abstract.
Iotchkova V, Huang J, Morris JA, Jain D, Barbieri C, Walter K, Min JL, Chen L, Astle W, Cocca M, et al (2016). Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps. Nature Genetics, 48(11), 1303-1312. Abstract.
Schuyler RP, Merkel A, Raineri E, Altucci L, Vellenga E, Martens JHA, Pourfarzad F, Kuijpers TW, Burden F, Farrow S, et al (2016). Distinct Trends of DNA Methylation Patterning in the Innate and Adaptive Immune Systems. Cell Reports, 17(8), 2101-2111. Abstract.
Choudry FA, Frontini M (2016). Epigenetic Control of Haematopoietic Stem Cell Aging and its Clinical Implications. Stem Cells International, 2016 Abstract.
Chen L, Ge B, Casale FP, Vasquez L, Kwan T, Garrido-Martín D, Watt S, Yan Y, Kundu K, Ecker S, et al (2016). Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells. Cell, 167(5), 1398-1414.e24. Abstract.
Paul DS, Teschendorff AE, Dang MAN, Lowe R, Hawa MI, Ecker S, Beyan H, Cunningham S, Fouts AR, Ramelius A, et al (2016). Increased DNA methylation variability in type 1 diabetes across three immune effector cell types. Nature Communications, 7 Abstract.
Libertini E, Heath SC, Hamoudi RA, Gut M, Ziller MJ, Czyz A, Ruotti V, Stunnenberg HG, Frontini M, Ouwehand WH, et al (2016). Information recovery from low coverage whole-genome bisulfite sequencing. Nature Communications, 7 Abstract.
Javierre BM, Sewitz S, Cairns J, Wingett SW, Várnai C, Thiecke MJ, Freire-Pritchett P, Spivakov M, Fraser P, Burren OS, et al (2016). Lineage-Specific Genome Architecture Links Enhancers and Non-coding Disease Variants to Target Gene Promoters. Cell, 167(5), 1369-1384.e19. Abstract.
Libertini E, Heath SC, Hamoudi RA, Gut M, Ziller MJ, Herrero J, Czyz A, Ruotti V, Stunnenberg HG, Frontini M, et al (2016). Saturation analysis for whole-genome bisulfite sequencing data. Nature Biotechnology, 34(7), 691-693.
Astle WJ, Elding H, Jiang T, Allen D, Ruklisa D, Mann AL, Mead D, Bouman H, Riveros-Mckay F, Kostadima MA, et al (2016). The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. Cell, 167(5), 1415-1429.e19. Abstract.
Stunnenberg HG, Abrignani S, Adams D, de Almeida M, Altucci L, Amin V, Amit I, Antonarakis SE, Aparicio S, Arima T, et al (2016). The International Human Epigenome Consortium: a Blueprint for Scientific Collaboration and Discovery. Cell, 167(5), 1145-1149. Abstract.
Breeze CE, Paul DS, van Dongen J, Butcher LM, Ambrose JC, Barrett JE, Lowe R, Rakyan VK, Iotchkova V, Frontini M, et al (2016). eFORGE: a Tool for Identifying Cell Type-Specific Signal in Epigenomic Data. Cell Reports, 17(8), 2137-2150. Abstract.
Nicolai S, Filippi S, Caputo M, Cipak L, Gregan J, Ammerer G, Frontini M, Willems D, Prantera G, Balajee AS, et al (2015). Identification of novel proteins Co-purifying with cockayne syndrome group B (CSB) reveals potential roles for CSB in RNA metabolism and chromatin dynamics. PLoS ONE, 10(6). Abstract.
Saeed S, Quintin J, Kerstens HHD, Rao NA, Aghajanirefah A, Matarese F, Cheng SC, Ratter J, Berentsem K, Van Der Ent MA, et al (2014). Epigenetic programming of monocyte-to-macrophage differentiation and trained innate immunity. Science, 345(6204). Abstract.
Ciaffardini F, Nicolai S, Caputo M, Canu G, Paccosi E, Costantino M, Frontini M, Balajee AS, Proietti-De-Santis L (2014). The cockayne syndrome B protein is essential for neuronal differentiation and neuritogenesis. Cell Death and Disease, 5 Abstract.
Clien L, Kostadraia M, Martens JHA, Canu G, Garcia SP, Torro E, Downes K, Macaolay LC, Bielczyk-Maezynska E, Coe S, et al (2014). Transcriptional diversity during lineage commitment of human blood progenitors. Science, 345(6204).
Clien L, Kostadraia M, Martens JHA, Canu G, Garcia SP, Torro E, Downes K, Macaolay LC, Bielczyk-Maezynska E, Coe S, et al (2014). Transcriptional diversity during lineage commitment of human blood progenitors. Science, 345(6204). Abstract.
Chen L, Kostadima M, Martens JHA, Canu G, Garcia SP, Turro E, Downes K, Macaulay IC, Bielczyk-Maczynska E, Coe S, et al (2014). Transcriptional diversity during lineage commitment of human blood progenitors. Science (New York, N.Y.), 345(6204). Abstract.
Cvejic A, Haer-Wigman L, Stephens JC, Kostadima M, Smethurst PA, Frontini M, Van Den Akker E, Bertone P, Bielczyk-Maczynska E, Farrow S, et al (2013). SMIM1 underlies the Vel blood group and influences red blood cell traits. Nature Genetics, 45(5), 542-545. Abstract.
Cvejic A, Haer-Wigman L, Stephens JC, Kostadima M, Smethurst PA, Frontini M, van den Akker E, Bertone P, Bielczyk-Maczyńska E, Farrow S, et al (2013). SMIM1 underlies the Vel blood group and influences red blood cell traits. Nat Genet, 45(5), 542-545. Abstract.  Author URL.
Caputo M, Frontini M, Velez-Cruz R, Nicolai S, Prantera G, Proietti-De-Santis L (2013). The CSB repair factor is overexpressed in cancer cells, increases apoptotic resistance, and promotes tumor growth. DNA Repair, 12(4), 293-299. Abstract.
Frontini M, Proietti-De-Santis L (2012). Interaction between the Cockayne syndrome B and p53 proteins: Implications for aging. Aging, 4(2), 89-97. Abstract.
Frontini M, Kukalev A, Leo E, Ng YM, Cervantes M, Cheng CW, Holic R, Dormann D, Tse E, Pommier Y, et al (2012). The CDK Subunit CKS2 Counteracts CKS1 to Control Cyclin A/CDK2 Activity in Maintaining Replicative Fidelity and Neurodevelopment. Developmental Cell, 23(2), 356-370. Abstract.
Latini P, Frontini M, Caputo M, Gregan J, Cipak L, Filippi S, Kumar V, Vélez-Cruz R, Stefanini M, Palitti F, et al (2011). CSA and CSB proteins interact with p53 and regulate its Mdm2-dependent ubiquitination. Cell Cycle, 10(21), 3719-3730. Abstract.
Wilhelm E, Kornete M, Targat B, Vigneault-Edwards J, Frontini M, Tora L, Benecke A, Bell B (2010). TAF6 delta orchestrates an apoptotic transcriptome profile and interacts functionally with p53. BMC MOLECULAR BIOLOGY, 11 Author URL.
Orpinell M, Fournier M, Riss A, Nagy Z, Krebs AR, Frontini M, Tora L (2010). The ATAC acetyl transferase complex controls mitotic progression by targeting non-histone substrates. EMBO JOURNAL, 29(14), 2381-2394. Author URL.
Frontini M, Vijayakumar M, Garvin A, Clarke N (2009). A ChIPchip approach reveals a novel role for transcription factor IRF1 in the DNA damage response. NUCLEIC ACIDS RESEARCH, 37(4), 1073-1085. Author URL.
Frontini M, Proietti-De-Santis L (2009). Cockayne syndrome B protein (CSB) Linking p53, HIF-1 and p300 to robustness, lifespan, cancer and cell fate decisions. CELL CYCLE, 8(5), 693-696. Author URL.
Filippi S, Latini P, Frontini M, Palitti F, Egly J-M, Proietti-De-Santis L (2008). CSB protein is (a direct target of HIF-1 and) a critical mediator of the hypoxic response. EMBO JOURNAL, 27(19), 2545-2556. Author URL.
Krebs A, Frontini M, Tora L (2008). GPAT: Retrieval of genomic annotation from large genomic position datasets. BMC BIOINFORMATICS, 9 Author URL.
Bolognese F, Forni C, Caretti G, Frontini M, Minuzzo M, Mantovani R (2006). The Pole3 bidirectional unit is regulated by MYC and E2Fs. Gene, 366(1), 109-116. Abstract.
Indra AK, Mohan WS, Frontini M, Scheer E, Messaddeq N, Metzger D, Tora L (2005). TAF10 is required for the establishment of skin barrier function in foetal, but not in adult mouse epidermis. Developmental Biology, 285(1), 28-37. Abstract.
Frontini M, Soutoglou E, Argentini M, Bole-Feysot C, Jost B, Scheer E, Tora L (2005). TAF9b (formerly TAF9L) is a bona fide TAF that has unique and overlapping roles with TAF9. Molecular and Cellular Biology, 25(11), 4638-4649. Abstract.
Frontini M, Imbriano C, Manni I, Mantovani R (2004). Cell cycle regulation of NF-YC nuclear localization. Cell Cycle, 3(2), 205-210. Abstract.
Abrescia C, De Gregorio E, Frontini M, Mantovani R, Di Nocera P (2002). A novel intragenic sequence enhances initiator-dependent transcription in human embryonic kidney 293 cells. Journal of Biological Chemistry, 277(22), 19594-19599. Abstract.
Frontini M, Imbriano C, Disilvio A, Bell B, Bogni A, Romier C, Moras D, Tora L, Davidson I, Mantovani R, et al (2002). NF-Y recruitment of TFIID, multiple interactions with histone fold TAF<inf>II</inf>s. Journal of Biological Chemistry, 277(8), 5841-5848. Abstract.
Zemzoumi K, Frontini M, Bellorini M, Mantovani R (1999). NF-Y histone fold α1 helices help impart CCAAT specificity. Journal of Molecular Biology, 286(2), 327-337. Abstract.

Conferences

Tarkin JM, Joshi FR, Evans NR, Chowdhury MM, Figg NL, Shah AV, Starks LT, Martin-Garrido A, Manavaki R, Yu E, et al (2017). ATHEROSCLEROTIC INFLAMMATION IMAGING USING (68)GA-DOTATATE PET VS. F-18-FDG PET: a PROSPECTIVE CLINICAL SUDY WITH MOLECULAR AND HISTOLOGICAL VALIDATION.  Author URL.
Tarkin JM, Joshi FR, Evans NR, Chowdhury MM, Figg NL, Shah AV, Starks LT, Manavaki R, Martin-Garrido A, Yu E, et al (2016). 68Ga-DOTATATE PET Outperforms 18F-FDG PET for Imaging Vascular Inflammation in Atherosclerosis.  Author URL.
Astle W, Elding H, Jiang T, Ruklisa D, Allen D, Bouman H, Downes K, Javierre B, Martens J, Spivakov M, et al (2016). A High-resolution Genetic Atlas of Blood Cell Variation and Function in Humans.  Author URL.
Astle WJ, Elding H, Jiang T, Allen DL, Ruklisa D, Bouman H, Riveros-Mckay F, Mann AL, Mead D, Kostadima MA, et al (2016). A high resolution genetic atlas of blood cell variation and function in humans.  Author URL.
Choudry F, Garcia S, Downes K, Kostadima M, Frontini M, Ouwehand W, Martin J, Mathur A (2015). GENES INVOLVED IN PLATELET ACTIVITY AND THROMBOSIS ARE OVEREXPRESSED IN HUMAN CD34(+) DERIVED MEGAKARYOCYTES DRIVEN TO HIGH PLOIDY.  Author URL.
Choudry FA, Garcia S, Downes K, Kostadima M, Martin J, Mathur A, Frontini M, Ouwehand WH (2015). In vitro generated high ploidy megakaryocytes show overexpression of genes involved in platelet activity and thrombosis.  Author URL.
Jansen SBG, Petersen R, Kostadima M, Colzani MT, Frontini M, Greene D, Simeoni I, Turro E, Guerrero JA, Ouwehand WH, et al (2015). Novel regulators of megakaryopoiesis by ribosome-protected RNA sequencing.  Author URL.
Aguilar EA, Ashraf H, Ruiz M, Frontini M, Charles C (2012). CHRONIC KIDNEY DISEASE RISK FACTORS IN a NURSING HOME POPULATION OF LOUISIANA: a CROSS-SECTIONAL STUDY.  Author URL.
Zeddies S, Jansen SBG, Nuernberg S, di Franca S, Ouwehand WH, Zwaginga JJ, Frontini M, von Lindern M, Rendon A, van der Schoot ECE, et al (2012). MEIS1 Induces a Megakaryocyte-Erythroid Fate by Upregulation of FOG1 and GATA1 Expression.  Author URL.
Cervantes M, Frontini M, Yu V (2010). Cks2 overexpression leads to an increase of gammaH2AX.  Author URL.
Frontini M, Van der Veer E, Thibert V, Pickering JG (2007). Nicotinamide phosphoribosyltransferase is a novel regulator of vascular smooth muscle cell polarity and directional migration.  Author URL.

Publications by year


In Press

Choudry F, Bagger FO, Macaulay IC, Farrow S, Burden F, Kempster C, McKinney H, Olsen LR, Huang N, Downes K, et al (In Press). Single Cell Transcriptional Characterization of Human Megakaryocyte Lineage Commitment and Maturation.

2020

Constantinescu-Bercu A, Grassi L, Frontini M, Salles-Crawley II, Woollard K, Crawley JT (2020). Activated αIIbβ3 on platelets mediates flow-dependent NETosis via SLC44A2. Elife, 9 Abstract.  Author URL.
Thaventhiran JED, Lango Allen H, Burren OS, Rae W, Greene D, Staples E, Zhang Z, Farmery JHR, Simeoni I, Rivers E, et al (2020). Whole-genome sequencing of a sporadic primary immunodeficiency cohort. Nature Abstract.

2019

Hoogendijk AJ, Pourfarzad F, Aarts CEM, Tool ATJ, Hiemstra IH, Grassi L, Frontini M, Meijer AB, van den Biggelaar M, Kuijpers TW, et al (2019). Dynamic Transcriptome-Proteome Correlation Networks Reveal Human Myeloid Differentiation and Neutrophil-Specific Programming. Cell Reports, 29(8), 2505-2519.e4. Abstract.
Rhodes CJ, Batai K, Bleda M, Haimel M, Southgate L, Germain M, Pauciulo MW, Hadinnapola C, Aman J, Girerd B, et al (2019). Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis. LANCET RESPIRATORY MEDICINE, 7(3), 227-238. Author URL.
Lentaigne C, Greene D, Sivapalaratnam S, Favier R, Seyres D, Thys C, Grassi L, Mangles S, Sibson K, Stubbs M, et al (2019). Germline mutations in the transcription factor IKZF5 cause thrombocytopenia. Blood, 134(23), 2070-2081. Abstract.
Van Geffen JP, Brouns SLN, Batista J, McKinney H, Kempster C, Nagy M, Sivapalaratnam S, Baaten CCFMJ, Bourry N, Frontini M, et al (2019). High-throughput elucidation of thrombus formation reveals sources of platelet function variability. Haematologica, 104(6), 1256-1267. Abstract.
Bariana TK, Labarque V, Heremans J, Thys C, De Reys M, Greene D, Jenkins B, Grassi L, Seyres D, Burden F, et al (2019). Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia. Haematologica, 104(5), 1036-1045. Abstract.

2018

Grassi L, Pourfarzad F, Ullrich S, Merkel A, Were F, Carrillo-de-Santa-Pau E, Yi G, Hiemstra IH, Tool ATJ, Mul E, et al (2018). Dynamics of Transcription Regulation in Human Bone Marrow Myeloid Differentiation to Mature Blood Neutrophils. Cell Reports, 24(10), 2784-2794. Abstract.
Iotchkova V, Huang J, Morris JA, Jain D, Barbieri C, Walter K, Min JL, Chen L, Astle W, Cocca M, et al (2018). Erratum to: Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps (Nature Genetics, (2016), 48, 11, (1303-1312), 10.1038/ng.3668). Nature Genetics, 50(12). Abstract.
Moris N, Edri S, Seyres D, Kulkarni R, Domingues AF, Balayo T, Frontini M, Pina C (2018). Histone Acetyltransferase KAT2A Stabilizes Pluripotency with Control of Transcriptional Heterogeneity. Stem Cells, 36(12), 1828-1838. Abstract.

2017

Tarkin JM, Joshi FR, Evans NR, Chowdhury MM, Figg NL, Shah AV, Starks LT, Martin-Garrido A, Manavaki R, Yu E, et al (2017). ATHEROSCLEROTIC INFLAMMATION IMAGING USING (68)GA-DOTATATE PET VS. F-18-FDG PET: a PROSPECTIVE CLINICAL SUDY WITH MOLECULAR AND HISTOLOGICAL VALIDATION.  Author URL.
Caputo M, Balzerano A, Arisi I, D'Onofrio M, Brandi R, Bongiorni S, Brancorsini S, Frontini M, Proietti-De-Santis L (2017). CSB ablation induced apoptosis is mediated by increased endoplasmic reticulum stress response. PLoS ONE, 12(3). Abstract.
Burren OS, Rubio García A, Javierre BM, Rainbow DB, Cairns J, Cooper NJ, Lambourne JJ, Schofield E, Castro Dopico X, Ferreira RC, et al (2017). Chromosome contacts in activated T cells identify autoimmune disease candidate genes. Genome Biology, 18(1). Abstract.
Tarkin JM, Joshi FR, Evans NR, Chowdhury MM, Figg NL, Shah AV, Starks LT, Martin-Garrido A, Manavaki R, Yu E, et al (2017). Detection of Atherosclerotic Inflammation by <sup>68</sup>Ga-DOTATATE PET Compared to [<sup>18</sup>F]FDG PET Imaging. Journal of the American College of Cardiology, 69(14), 1774-1791. Abstract.
Ecker S, Chen L, Pancaldi V, Bagger FO, Fernández JM, Carrillo de Santa Pau E, Juan D, Mann AL, Watt S, Casale FP, et al (2017). Genome-wide analysis of differential transcriptional and epigenetic variability across human immune cell types. Genome Biology, 18(1). Abstract.
Guo BB, Allcock RJ, Mirzai B, Malherbe JA, Choudry FA, Frontini M, Chuah H, Liang J, Kavanagh SE, Howman R, et al (2017). Megakaryocytes in Myeloproliferative Neoplasms Have Unique Somatic Mutations. American Journal of Pathology, 187(7), 1512-1522. Abstract.
Petersen R, Lambourne JJ, Javierre BM, Grassi L, Kreuzhuber R, Ruklisa D, Rosa IM, Tomé AR, Elding H, Van Geffen JP, et al (2017). Platelet function is modified by common sequence variation in megakaryocyte super enhancers. Nature Communications, 8 Abstract.
Harvey E, Zhang H, Sepúlveda P, Garcia SP, Sweeney D, Choudry FA, Castellano D, Thomas GN, Kattach H, Petersen R, et al (2017). Potency of human cardiosphere-derived cells from patients with ischemic heart disease is associated with robust vascular supportive ability. Stem Cells Translational Medicine, 6(5), 1399-1411. Abstract.
Zou S, Teixeira AM, Kostadima M, Astle WJ, Radhakrishnan A, Simon LM, Truman L, Fang JS, Hwa J, Zhang PX, et al (2017). SNP in human ARHGEF3 promoter is associated with DNase hypersensitivity, transcript level and platelet function, and Arhgef3 KO mice have increased mean platelet volume. PLoS ONE, 12(5). Abstract.

2016

Tarkin JM, Joshi FR, Evans NR, Chowdhury MM, Figg NL, Shah AV, Starks LT, Manavaki R, Martin-Garrido A, Yu E, et al (2016). 68Ga-DOTATATE PET Outperforms 18F-FDG PET for Imaging Vascular Inflammation in Atherosclerosis.  Author URL.
Astle W, Elding H, Jiang T, Ruklisa D, Allen D, Bouman H, Downes K, Javierre B, Martens J, Spivakov M, et al (2016). A High-resolution Genetic Atlas of Blood Cell Variation and Function in Humans.  Author URL.
Astle WJ, Elding H, Jiang T, Allen DL, Ruklisa D, Bouman H, Riveros-Mckay F, Mann AL, Mead D, Kostadima MA, et al (2016). A high resolution genetic atlas of blood cell variation and function in humans.  Author URL.
Farlik M, Halbritter F, Müller F, Choudry FA, Ebert P, Klughammer J, Farrow S, Santoro A, Ciaurro V, Mathur A, et al (2016). DNA Methylation Dynamics of Human Hematopoietic Stem Cell Differentiation. Cell Stem Cell, 19(6), 808-822. Abstract.
Iotchkova V, Huang J, Morris JA, Jain D, Barbieri C, Walter K, Min JL, Chen L, Astle W, Cocca M, et al (2016). Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps. Nature Genetics, 48(11), 1303-1312. Abstract.
Schuyler RP, Merkel A, Raineri E, Altucci L, Vellenga E, Martens JHA, Pourfarzad F, Kuijpers TW, Burden F, Farrow S, et al (2016). Distinct Trends of DNA Methylation Patterning in the Innate and Adaptive Immune Systems. Cell Reports, 17(8), 2101-2111. Abstract.
Choudry FA, Frontini M (2016). Epigenetic Control of Haematopoietic Stem Cell Aging and its Clinical Implications. Stem Cells International, 2016 Abstract.
Chen L, Ge B, Casale FP, Vasquez L, Kwan T, Garrido-Martín D, Watt S, Yan Y, Kundu K, Ecker S, et al (2016). Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells. Cell, 167(5), 1398-1414.e24. Abstract.
Paul DS, Teschendorff AE, Dang MAN, Lowe R, Hawa MI, Ecker S, Beyan H, Cunningham S, Fouts AR, Ramelius A, et al (2016). Increased DNA methylation variability in type 1 diabetes across three immune effector cell types. Nature Communications, 7 Abstract.
Libertini E, Heath SC, Hamoudi RA, Gut M, Ziller MJ, Czyz A, Ruotti V, Stunnenberg HG, Frontini M, Ouwehand WH, et al (2016). Information recovery from low coverage whole-genome bisulfite sequencing. Nature Communications, 7 Abstract.
Javierre BM, Sewitz S, Cairns J, Wingett SW, Várnai C, Thiecke MJ, Freire-Pritchett P, Spivakov M, Fraser P, Burren OS, et al (2016). Lineage-Specific Genome Architecture Links Enhancers and Non-coding Disease Variants to Target Gene Promoters. Cell, 167(5), 1369-1384.e19. Abstract.
Libertini E, Heath SC, Hamoudi RA, Gut M, Ziller MJ, Herrero J, Czyz A, Ruotti V, Stunnenberg HG, Frontini M, et al (2016). Saturation analysis for whole-genome bisulfite sequencing data. Nature Biotechnology, 34(7), 691-693.
Astle WJ, Elding H, Jiang T, Allen D, Ruklisa D, Mann AL, Mead D, Bouman H, Riveros-Mckay F, Kostadima MA, et al (2016). The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. Cell, 167(5), 1415-1429.e19. Abstract.
Stunnenberg HG, Abrignani S, Adams D, de Almeida M, Altucci L, Amin V, Amit I, Antonarakis SE, Aparicio S, Arima T, et al (2016). The International Human Epigenome Consortium: a Blueprint for Scientific Collaboration and Discovery. Cell, 167(5), 1145-1149. Abstract.
Breeze CE, Paul DS, van Dongen J, Butcher LM, Ambrose JC, Barrett JE, Lowe R, Rakyan VK, Iotchkova V, Frontini M, et al (2016). eFORGE: a Tool for Identifying Cell Type-Specific Signal in Epigenomic Data. Cell Reports, 17(8), 2137-2150. Abstract.

2015

Choudry F, Garcia S, Downes K, Kostadima M, Frontini M, Ouwehand W, Martin J, Mathur A (2015). GENES INVOLVED IN PLATELET ACTIVITY AND THROMBOSIS ARE OVEREXPRESSED IN HUMAN CD34(+) DERIVED MEGAKARYOCYTES DRIVEN TO HIGH PLOIDY.  Author URL.
Nicolai S, Filippi S, Caputo M, Cipak L, Gregan J, Ammerer G, Frontini M, Willems D, Prantera G, Balajee AS, et al (2015). Identification of novel proteins Co-purifying with cockayne syndrome group B (CSB) reveals potential roles for CSB in RNA metabolism and chromatin dynamics. PLoS ONE, 10(6). Abstract.
Choudry FA, Garcia S, Downes K, Kostadima M, Martin J, Mathur A, Frontini M, Ouwehand WH (2015). In vitro generated high ploidy megakaryocytes show overexpression of genes involved in platelet activity and thrombosis.  Author URL.
Jansen SBG, Petersen R, Kostadima M, Colzani MT, Frontini M, Greene D, Simeoni I, Turro E, Guerrero JA, Ouwehand WH, et al (2015). Novel regulators of megakaryopoiesis by ribosome-protected RNA sequencing.  Author URL.

2014

Saeed S, Quintin J, Kerstens HHD, Rao NA, Aghajanirefah A, Matarese F, Cheng SC, Ratter J, Berentsem K, Van Der Ent MA, et al (2014). Epigenetic programming of monocyte-to-macrophage differentiation and trained innate immunity. Science, 345(6204). Abstract.
Ciaffardini F, Nicolai S, Caputo M, Canu G, Paccosi E, Costantino M, Frontini M, Balajee AS, Proietti-De-Santis L (2014). The cockayne syndrome B protein is essential for neuronal differentiation and neuritogenesis. Cell Death and Disease, 5 Abstract.
Clien L, Kostadraia M, Martens JHA, Canu G, Garcia SP, Torro E, Downes K, Macaolay LC, Bielczyk-Maezynska E, Coe S, et al (2014). Transcriptional diversity during lineage commitment of human blood progenitors. Science, 345(6204).
Clien L, Kostadraia M, Martens JHA, Canu G, Garcia SP, Torro E, Downes K, Macaolay LC, Bielczyk-Maezynska E, Coe S, et al (2014). Transcriptional diversity during lineage commitment of human blood progenitors. Science, 345(6204). Abstract.
Chen L, Kostadima M, Martens JHA, Canu G, Garcia SP, Turro E, Downes K, Macaulay IC, Bielczyk-Maczynska E, Coe S, et al (2014). Transcriptional diversity during lineage commitment of human blood progenitors. Science (New York, N.Y.), 345(6204). Abstract.

2013

Cvejic A, Haer-Wigman L, Stephens JC, Kostadima M, Smethurst PA, Frontini M, Van Den Akker E, Bertone P, Bielczyk-Maczynska E, Farrow S, et al (2013). SMIM1 underlies the Vel blood group and influences red blood cell traits. Nature Genetics, 45(5), 542-545. Abstract.
Cvejic A, Haer-Wigman L, Stephens JC, Kostadima M, Smethurst PA, Frontini M, van den Akker E, Bertone P, Bielczyk-Maczyńska E, Farrow S, et al (2013). SMIM1 underlies the Vel blood group and influences red blood cell traits. Nat Genet, 45(5), 542-545. Abstract.  Author URL.
Caputo M, Frontini M, Velez-Cruz R, Nicolai S, Prantera G, Proietti-De-Santis L (2013). The CSB repair factor is overexpressed in cancer cells, increases apoptotic resistance, and promotes tumor growth. DNA Repair, 12(4), 293-299. Abstract.

2012

Aguilar EA, Ashraf H, Ruiz M, Frontini M, Charles C (2012). CHRONIC KIDNEY DISEASE RISK FACTORS IN a NURSING HOME POPULATION OF LOUISIANA: a CROSS-SECTIONAL STUDY.  Author URL.
Frontini M, Proietti-De-Santis L (2012). Interaction between the Cockayne syndrome B and p53 proteins: Implications for aging. Aging, 4(2), 89-97. Abstract.
Zeddies S, Jansen SBG, Nuernberg S, di Franca S, Ouwehand WH, Zwaginga JJ, Frontini M, von Lindern M, Rendon A, van der Schoot ECE, et al (2012). MEIS1 Induces a Megakaryocyte-Erythroid Fate by Upregulation of FOG1 and GATA1 Expression.  Author URL.
Frontini M, Kukalev A, Leo E, Ng YM, Cervantes M, Cheng CW, Holic R, Dormann D, Tse E, Pommier Y, et al (2012). The CDK Subunit CKS2 Counteracts CKS1 to Control Cyclin A/CDK2 Activity in Maintaining Replicative Fidelity and Neurodevelopment. Developmental Cell, 23(2), 356-370. Abstract.

2011

Latini P, Frontini M, Caputo M, Gregan J, Cipak L, Filippi S, Kumar V, Vélez-Cruz R, Stefanini M, Palitti F, et al (2011). CSA and CSB proteins interact with p53 and regulate its Mdm2-dependent ubiquitination. Cell Cycle, 10(21), 3719-3730. Abstract.

2010

Cervantes M, Frontini M, Yu V (2010). Cks2 overexpression leads to an increase of gammaH2AX.  Author URL.
Wilhelm E, Kornete M, Targat B, Vigneault-Edwards J, Frontini M, Tora L, Benecke A, Bell B (2010). TAF6 delta orchestrates an apoptotic transcriptome profile and interacts functionally with p53. BMC MOLECULAR BIOLOGY, 11 Author URL.
Orpinell M, Fournier M, Riss A, Nagy Z, Krebs AR, Frontini M, Tora L (2010). The ATAC acetyl transferase complex controls mitotic progression by targeting non-histone substrates. EMBO JOURNAL, 29(14), 2381-2394. Author URL.

2009

Frontini M, Vijayakumar M, Garvin A, Clarke N (2009). A ChIPchip approach reveals a novel role for transcription factor IRF1 in the DNA damage response. NUCLEIC ACIDS RESEARCH, 37(4), 1073-1085. Author URL.
Frontini M, Proietti-De-Santis L (2009). Cockayne syndrome B protein (CSB) Linking p53, HIF-1 and p300 to robustness, lifespan, cancer and cell fate decisions. CELL CYCLE, 8(5), 693-696. Author URL.

2008

Filippi S, Latini P, Frontini M, Palitti F, Egly J-M, Proietti-De-Santis L (2008). CSB protein is (a direct target of HIF-1 and) a critical mediator of the hypoxic response. EMBO JOURNAL, 27(19), 2545-2556. Author URL.
Krebs A, Frontini M, Tora L (2008). GPAT: Retrieval of genomic annotation from large genomic position datasets. BMC BIOINFORMATICS, 9 Author URL.

2007

Frontini M, Van der Veer E, Thibert V, Pickering JG (2007). Nicotinamide phosphoribosyltransferase is a novel regulator of vascular smooth muscle cell polarity and directional migration.  Author URL.

2006

Bolognese F, Forni C, Caretti G, Frontini M, Minuzzo M, Mantovani R (2006). The Pole3 bidirectional unit is regulated by MYC and E2Fs. Gene, 366(1), 109-116. Abstract.

2005

Indra AK, Mohan WS, Frontini M, Scheer E, Messaddeq N, Metzger D, Tora L (2005). TAF10 is required for the establishment of skin barrier function in foetal, but not in adult mouse epidermis. Developmental Biology, 285(1), 28-37. Abstract.
Frontini M, Soutoglou E, Argentini M, Bole-Feysot C, Jost B, Scheer E, Tora L (2005). TAF9b (formerly TAF9L) is a bona fide TAF that has unique and overlapping roles with TAF9. Molecular and Cellular Biology, 25(11), 4638-4649. Abstract.

2004

Frontini M, Imbriano C, Manni I, Mantovani R (2004). Cell cycle regulation of NF-YC nuclear localization. Cell Cycle, 3(2), 205-210. Abstract.

2002

Abrescia C, De Gregorio E, Frontini M, Mantovani R, Di Nocera P (2002). A novel intragenic sequence enhances initiator-dependent transcription in human embryonic kidney 293 cells. Journal of Biological Chemistry, 277(22), 19594-19599. Abstract.
Frontini M, Imbriano C, Disilvio A, Bell B, Bogni A, Romier C, Moras D, Tora L, Davidson I, Mantovani R, et al (2002). NF-Y recruitment of TFIID, multiple interactions with histone fold TAF<inf>II</inf>s. Journal of Biological Chemistry, 277(8), 5841-5848. Abstract.

1999

Zemzoumi K, Frontini M, Bellorini M, Mantovani R (1999). NF-Y histone fold α1 helices help impart CCAAT specificity. Journal of Molecular Biology, 286(2), 327-337. Abstract.

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