PUBLICATIONS
scientific Publications by our ESRs
Alessio Paolini, Federica Fontana, Van-Cuong Pham, Claudia Jasmin Rödel, Salim Abdelilah-Seyfried. Mechanosensitive Notch-Dll4 and Klf2-Wnt9 signaling pathways intersect in guiding valvulogenesis in zebrafish. Cell Reports, Volume 37, Issue 1, 2021, 109782, ISSN 2211-1247. Read more
Songyuan Li, Nina Akrap, Silvia Cerboni, Michelle J. Porritt, Sandra Wimberger, Anders Lundin, Carl Möller, Mike Firth, Euan Gordon, Bojana Lazovic, Aleksandra Sieńska, Luna Simona Pane, Matthew A. Coelho, Giovanni Ciotta, Giovanni Pellegrini, Marcella Sini, Xiufeng Xu, Suman Mitra, Mohammad Bohlooly-Y, Benjamin J. M. Taylor, Grzegorz Sienski, Marcello Maresca. Universal toxin-based selection for precise genome engineering in human cells. Nat Commun 12, 497 (2021). Read more
Claire Bouvard, Ly Tu, Martina Rossi, et al. Different cardiovascular and pulmonary phenotypes for single- and double-knock-out mice deficient in BMP9 and BMP10. Cardiovascular Research, 4 June 2021. Read more
Kapiainen E, Kihlström MK, Pietilä R, Kaakinen M, Ronkainen VP, Tu H, Heikkinen A, Devarajan R, Miinalainen I, Laitakari A, Ansarizadeh M, Zhang Q, Wei GH, Ruddock L, Pihlajaniemi T, Elamaa H, Eklund L. The Amino-Terminal Oligomerization Domain of Angiopoietin-2 Affects Vascular Remodeling, Mammary Gland Tumor Growth, and Lung Metastasis in Mice. Cancer Res. 2021 Jan 1;81(1):129-143. doi: 10.1158/0008-5472.CAN-19-1904. Epub 2020 Oct 9. PMID: 33037065. Read more
Ong, Y.T., Andrade, J., Armbruster, M. et al. A YAP/TAZ-TEAD signalling module links endothelial nutrient acquisition to angiogenic growth. Nat Metab 4, 672–682 (2022). https://doi.org/10.1038/s42255-022-00584-y. Read more
Nawaz M, Heydarkhan-Hagvall S, Tangruksa B, González-King Garibotti H, Jing Y, Maugeri M, Kohl F, Hultin L, Reyahi A, Camponeschi A, Kull B, Christoffersson J, Grimsholm O, Jennbacken K, Sundqvist M, Wiseman J, Bidar AW, Lindfors L, Synnergren J, Valadi H. Lipid Nanoparticles Deliver the Therapeutic VEGFA mRNA In Vitro and In Vivo and Transform Extracellular Vesicles for Their Functional Extensions. Adv Sci (Weinh). 2023 Apr;10(12):e2206187. doi: 10.1002/advs.202206187. Epub 2023 Feb 19. PMID: 36806740; PMCID: PMC10131815. Read more
Rossi M, Salomon A, Chaumontel N, Molet J, Bailly S, Tillet E, Bouvard C. Warning regarding hematological toxicity of tamoxifen activated CreERT2 in young Rosa26CreERT2 mice. Sci Rep. 2023 Apr 12;13(1):5976. doi: 10.1038/s41598-023-32633-1. PMID: 37045870; PMCID: PMC10097815. Read more
Grdseloff N, Boulday G, Rödel CJ, Otten C, Vannier DR, Cardoso C, Faurobert E, Dogra D, Tournier-Lasserve E, Abdelilah-Seyfried S. Impaired retinoic acid signaling in cerebral cavernous malformations. Sci Rep. 2023 Apr 5;13(1):5572. doi: 10.1038/s41598-023-31905-0. PMID: 37019926; PMCID: PMC10076292. Read more
Milena Petkova, Marle Kraft, Simon Stritt, Ines Martinez-Corral, Henrik Ortsäter, Michael Vanlandewijck, Bojana Jakic, Eulalia Baselga, Sandra D Castillo, Mariona Graupera, Christer Betsholtz, Taija Mäkinen. Immune-interacting lymphatic endothelial subtype at capillary terminals drives lymphatic malformation. J Exp Med. 2023 Apr 3;220(4):e20220741. doi: 10.1084/jem.20220741. Epub 2023 Jan 23. Read more
De Bortoli M, Ivars M, Revencu N, Nassogne MC, Lavarino C, Paco S, Lammens M, Renders A, Dumitriu D, Helaers R, Boon LM, Baselga E, Vikkula M. Epilepsy with faint capillary malformation or reticulated telangiectasia associated with mosaic AKT3 pathogenic variants. Am J Med Genet A. 2024 Jun;194(6):e63551. doi: 10.1002/ajmg.a.63551. Epub 2024 Feb 6. PMID: 38321651. Read more
De Bortoli M, Queisser A, Pham VC, Dompmartin A, Helaers R, Boutry S, Claus C, De Roo AK, Hammer F, Brouillard P, Abdelilah-Seyfried S, Boon LM, Vikkula M. Somatic Loss-of-Function PIK3R1 and Activating Non-hotspot PIK3CA Mutations Associated with Capillary Malformation with Dilated Veins (CMDV). J Invest Dermatol. 2024 Feb 29:S0022-202X(24)00164-7. doi: 10.1016/j.jid.2024.01.033. Epub ahead of print. PMID: 38431221. Read more
Alpaslan M, Mestré-Godin S, Lay A, Giacalone G, Helaers R, Adham S, Kovacsik H, Guillemard S, Mercier E, Boon L, Revencu N, Brouillard P, Quere I, Vikkula M. Ureteropelvic junction obstruction with primary lymphoedema associated with CELSR1 variants. J Med Genet. 2023 Nov 27;60(12):1161-1168. doi: 10.1136/jmg-2023-109171. PMID: 37225411. Read more
Alpaslan M, Fastré E, Mestre S, van Haeringen A, Repetto GM, Keymolen K, Boon LM, Belva F, Giacalone G, Revencu N, Sznajer Y, Riches K, Keeley V, Mansour S, Gordon K, Martin-Almedina S, Dobbins S, Ostergaard P, Quere I, Brouillard P, Vikkula M. Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function. Hum Mol Genet. 2024 Apr 26:ddae060. doi: 10.1093/hmg/ddae060. Epub ahead of print. PMID: 38676400. Read more
Lazovic B, Nguyen HT, Ansarizadeh M, Wigge L, Kohl F, Li S, Carracedo M, Kettunen J, Krimpenfort L, Elgendy R, Richter K, De Silva L, Bilican B, Singh P, Saxena P, Hong X, Eklund L, Hicks R. Human iPSC and CRISPR targeted gene knock-in strategy for studying the somatic TIE2L914F mutation in endothelial cells. Angiogenesis. 2024 May 21. doi: 10.1007/s10456-024-09925-9. Epub ahead of print. PMID: 38771392. Read more
Al Tabosh T, Liu H, Koça D, Al Tarrass M, Tu L, Giraud S, Delagrange L, Beaudoin M, Rivière S, Grobost V, Rondeau-Lutz M, Dupuis O, Ricard N, Tillet E, Machillot P, Salomon A, Picart C, Battail C, Dupuis-Girod S, Guignabert C, Desroches-Castan A, Bailly S. Impact of heterozygous ALK1 mutations on the transcriptomic response to BMP9 and BMP10 in endothelial cells from hereditary hemorrhagic telangiectasia and pulmonary arterial hypertension donors. Angiogenesis. 2024 May;27(2):211-227. doi: 10.1007/s10456-023-09902-8. Epub 2024 Jan 31. PMID: 38294582; PMCID: PMC11021321. Read more
Al Tabosh T, Al Tarrass M, Tourvieilhe L, Guilhem A, Dupuis-Girod S, Bailly S. Hereditary hemorrhagic telangiectasia: from signaling insights to therapeutic advances. J Clin Invest. 2024 Feb 15;134(4):e176379. doi: 10.1172/JCI176379. PMID: 38357927; PMCID: PMC10866657. Read more
Al Tarrass M, Belmudes L, Koça D, Azemard V, Liu H, Al Tabosh T, Ciais D, Desroches-Castan A, Battail C, Couté Y, Bouvard C, Bailly S. Large-scale phosphoproteomics reveals activation of the MAPK/GADD45β/P38 axis and cell cycle inhibition in response to BMP9 and BMP10 stimulation in endothelial cells. Cell Commun Signal. 2024 Mar 4;22(1):158. doi: 10.1186/s12964-024-01486-0. PMID: 38439036; PMCID: PMC10910747. Read more
talks at scientific conferences
Mohammad Hassan Ansarizadeh: Presentation “Vasculature bioprinting strategies” on 3D Bioprinting in Finland today, 11 March 2021 (online).
Hans Schoofs: Flash talk at EMBO workshop “Vascular malformations: From fundamental biology to therapeutic opportunities”, 6-8 October 2021, Barcelona.
Nastasja Grdseloff: Talk at conference “Impaired Retinoic Acid Signaling in Animal Models of CCM.” Angioma Alliance, 2021 International CCM Scientific Meeting, Nov 11-12th 2021.
Hans Schoofs: Talk at “Lymphatics Gordon Research Seminar 2022”, October 29-30 2022, Lucca, Italy
At VAC2023, international conference on vascular anomalies, 31 January to 3 February 2023, Brussels, Belgium:
Marle Kraft (Short talk): Unraveling PIK3CA-driven pathophysiology of vascular malformations by single cell transcriptomics
Hans Schoofs (Short talk): Clonal origin of Pik3ca-driven lymphatic malformations
Cuong Pham (Short talk): The Polycomb Repressive Complex 1 protein Cbx7a activates pathogenic Klf2 targets in a Zebrafish model of Cerebral Cavernous Malformations
Tala Al Tabosh (Short talk): Heterozygous ALK1-mutated endothelial cells display normal transcriptomic responses to BMP9 and BMP10 supporting the need of second hit for driving HHT pathogenesis
Martina de Bortoli (Short talk): Somatic PIK3R1 and non-hotspot PIK3CA mutations associated with a newly identified clinical phenotype: Capillary Malformation with Dilated Veins (CMDV)
Antonio Queiro Palou (Poster Teaser Talk): Releasing an mTORC1 break causes lymphatic hyperplasia and malformation
Poster presentations at scientific conferences
Murat Alpaslan: Best poster badge at European Human Genetics Conference (ESGH) conference, 28-31 August 2021 (online).
Marle Kraft: Poster presentation at Keystone Symposia conference, April 5-9 2022, Florence: “Single Cell Biology: Pushing New Frontiers in the Life Sciences”.
Hoang-Tuan Nguyen: High throughput Vessel-on-chip platform for vascular flow investigations, SLAS EUROPE 2022 in Dublin, Ireland from May 23 to May 27, 2022.
Poster presentations at VAC2023, international conference on vascular anomalies, 31 January to 3 February 2023, Brussels, Belgium:
Franziska Kohl – iPS-derived endothelial cells facilitate modeling of vascular diseases and enable drug testing
Murat Alpaslan – CELSR1 and HGF loss-of-function mutations give rise to primary lymphedema
Hasan Ansarizadeh – Human Vascular in vitro Disease Model for Venous Malformation and Drug Screening
Tuan Nguyen – Scalable microfluidic platform for vascular anomalies modeling
Nastasja Grdseloff – Impaired Retinoic Acid Signaling in Cerebral Cavernous Malformations
Joseph Lim – Differential role of FOXO transcription factors in the blood vasculature
Bojana Lazovic – Generation and characterization of Tie2 L914F mutant iPSC derived endothelial cell models in 2D and 3D conditions
Martina Rossi and Emmanuelle Tillet (presented by Emmanuelle Tillet) – Combined loss of Bmp9 and Bmp10 leads to severe vascular defects and heart failure
publications by our network members
Abdelilah-Seyfried S, Iruela-Arispe ML, Penninger JM, Tournier-Lasserve E, Vikkula M, Cleaver O. Recalibrating vascular malformations and mechanotransduction by pharmacological intervention. J Clin Invest. 2022 Apr 15;132(8):e160227. doi: 10.1172/JCI160227. PMID: 35426368; PMCID: PMC9012280.
Outreach activities for the general public
Elevator pitches
Rare disease day
European Researchers’ night
SciFest (Swedish Science festival)
Publication in Portal Wissen – One 2021 „Change”, magazine of Postdam University. Read the article
Publication in the Swedish magazine Lymfan (Svenska Ödemförbundet – Swedish Edema Association)
