Publications

*indicates publications with two or more network members

 

2025 | 2024 |2023 | 2022 | 

 

2025

*Peter M Luo, Neha H Ahuja, Christopher Chaney, Danielle Pi, Aleksandra Cwiek, Zaneta Markowska, Chitkale Hiremath, Denise K Marciano, Karen K Hirschi, M Luisa Iruela-Arispe, Thomas J Carroll, Ondine Cleaver. Zonal endothelial cell heterogeneity underlies murine renal vascular development. Angiogenesis. 2025 Oct 16;28(4):57. PMID: 41099936. PMCID: PMC12532761.

Marle Kraft, Hans Schoofs, Milena Petkova, Jorge Andrade, Ana Rita Grosso, Rui Benedito, An-Katrien De Roo, Laurence M Boon, Miikka Vikkula, Friedrich G Kapp, René Hägerling, Michael Potente, Taija Mäkinen. Angiopoietin–TIE2 feedforward circuit promotes PIK3CA-driven venous malformations. Nat Cardiovasc Res. 2025 Jul;4(7):801-820. doi: 10.1038/s44161-025-00655-9. Epub 2025 May 23. PMID: 40410415. PMCID: PMC12259471.

Arnaud Maillard, Eva Pipiras, Philippe Jarnoux, Chaker Aloui, Thibault Coste, Mickaelle Corpechot, Francoise Bergametti, Valérie Jobic, Audrey Delaforge, Elisabeth Tournier-Lasserve. Identity by descent analysis uncovering a founder event in a novel hereditary cerebral small vessel disease. Stroke. 2025 May;56(5):1285-1289. doi 10.1161/STROKAAHA, 124.049839. Epub 2025 Mar 24. PMID: 40123492.

Marina T Nikolova, Zhisong He, Makiko Seimiya, Gustav Jonsson, Wuji Cao, Ryo Okuda, Reiner A Wimmer, Ryoko Okamoto, Josef M Penninger, J Gray Camp, Barbara Treutlein. Fate and state transitions during human blood vessel organoid development. Cell. 2025 Jun 12;188(12):3329-3348.e31. doi: 10.1016/j.cell.2025.03.037. Epub 2025 Apr 17. PMID: 40250419.

Ania Bogoslowski, Joice Ren, Clément Quintard, Josef M. Penninger. Organoid Models of Lymphoid Tissues. Organoids. 2025 Apr 7; 4(2):7. doi: 10.3390/organoids4020007.

Julien Coulie, Emmanuel Seront, Miikka Vikkula, Laurence M Boon. Extracranial arteriovenous malformations: towards etiology-based therapeutic management. J Clin Invest. 2025 Mar 17;135(6):e172837. doi: 10.1172/JCI172837. PMID: 40091828. PMCID: PMC11910209.

*Stephen Spurgin, Ange Michelle Nguimtsop, Fatima N Chaudhry, Sylvia N Michki, Jocelynda Salvador, M. Luisa Iruela-Arispe, Jarod A Zepp, Saikat Mukhopadhyay, Ondine Cleaver. Dynamics of primary cilia in endothelial and mesenchymal cells throughout mouse lung development. Dev Dyn. 2025 Mar 8; 10.1002/dvdy.70008. PMID: 40055935. PMCID: PMC12353473.

Christian Hiepen, Mounir Benamar, Jorge Barrasa-Fano, Mar Condor, Mustafa Ilhan, Juliane Münch, Nurcan Hastar, Yannic Kerkhoff, Gregory S Harms, Thorsten Mielke, Benjamin Koenig, Stephan Block, Oliver Rocks, Salim Abdelilah-Seyfried, Hans Van Oosterwyck, Petra Knaus. Endothelial tip-cell position, filopodia formation and biomechanics require BMPR2 expression and signaling. Commun Biol. 2025 Jan 8;8(1):21. doi: 10.1038/s42003-024-07431-8. PMID: 39779836. PMCID: PMC11711618.

Thibault Coste, Chaker Aloui, Justine Chanclud, Eleonore Blondiaux, Jelena Martinovic, Tnaia Attie-Bitach, Florence Petit, Delphine Héron, Alexandre G de Brevern, Ragousandirane Radjasandirane, Mickaelle Corpechot, Hélène Morel, Rachel Petermann, Anne-Louise Leutenegger, Elisabeth Tournier-Lasserve. Exome sequencing of fetuses with intracranial hemorrhage unravels novel causative genes and an extreme genetic heterogeneity. Prenat Diagn. 2025 Jan 6;00:1-16. doi: 10.1002/pd.6743. Epub ahead of print. PMID: 39763161.

2024

Emmanuel Seront, Angela Queisser, Laurence M Boon, Miikka Vikkula. Molecular landscape and classification of vascular anomalies. Hematology Am Soc Hematol Educ Program. 2024 Dec 6;2024(1):700-708. doi: 10.1182/hematology.2024000598. PMID: 39644020. PMCID: PMC11665640.

*Van Cuong Pham, Claudia Jasmin Rödel, Mariaelena Valentino, Matteo Malinverno, Alessio Paolini, Juliane Münch, Candice Pasquier, Favour C Onyeogaziri, Bojana Lazovic, Romuald Girard, Janne Koskimäki, Melina Hußmann, Benjamin Keith, Daniel Jachimowicz, Franziska Kohl, Astrid Hagelkruys, Josef M Penninger, Stefan Schulte-Merker, Issam A Awad, Ryan Hicks, Petra U Magnusson, Eva Faurobert, Massimiliano Pagani, Salim Abdelilah-Seyfried. Epigenetic regulation by polycomb repressive complex 1 promotes cerebral cavernous malformations. EMBO Mol Med. 2024 Nov;16(11):2827-2855. doi:10.1038/s44321-024-00152-9. Epub 2024 Oct 14. PMID: 39402138. PMCID:PMC11555420.

Emiliano Bolesani, Dorothee Bornhorst, Lavanya M Iyer, Dorota Zawada, Nina Friese, Michael Morgan, Lucas Lange, David M Gonzalez, Nadine Schrode, Andreas Leffler, Julian Wunder, Annika Franke, Lika Drakhlis, Robert Sebra, Axel Schambach, Alexander Goedel, Nicole C Dubois, Gergana Dobreva, Alessandra Moretti, Laura C Zelaráyan, Salim Abdelilah-Seyfried, Robert Zweigerdt. Transient stabilization of human cardiovascular progenitor cells from human pluripotent stem cells in vitro reflects stage-specific heart development in vivo. Cardiovasc Res. 2024 Sep 21;120(11):1295-1311. doi: 10.1093/cvr/cvae118. Erratum in: Cardiovasc Res. 2024 Dec 4;120(15):1985. doi: 10.1093/cvr/cvae172. PMID: 38836637.

Daniel Seeler D, Natasja Grdseloff, Claudia Jasmin Rödel, Charlotte Kloft, Salim Abdelilah-Seyfried, Wilhelm Huisinga. Novel mathematical approach to accurately quantify 3D endothelial cell morphology and vessel geometry based on fluorescently marked endothelial cell contours: Application to the dorsal aorta of wild-type and Endoglin-deficient zebrafish embryos. PLoS Comput Biol. 2024 Aug 30;20(8):e1011924. doi: 10.1371/journal.pcbi.1011924. PMID: 39213451. PMCID: PMC11392406.

Salim Abdelilah-Seyfried. Epigenetics enters the stage in vascular malformations. J Clin Invest. 2024 Aug 1;134(15):e182904. doi: 10.1172/JCI182904. PMID: 39087470. PMCID: PMC11290957.

Murat Alpaslan, Elodie Fastré, Sandrine Mestre, Arie van Haeringen, Gabriela M. Repetto, Kathelijn Keymolen, Laurence M. Boon, Florence Belva, Guido Giacalone, Nicole Revencu, Yves, Katie Riches, Vaughan Keeley, Sahar Mansour, Kristiana Gordon, Silvia Martin-Almedina, Sara Dobbins, Pia Ostergaard, Isabelle Quere, Pascal Brouillard, Miikka Vikkula. Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function. Hum Mol Genet.  2024 Jul 6;33(14):1250-1261. doi: 10.1093/hmg/ddae060. PMID: 38676400; PMCID: PMC11227619.

Nicolas Werschler, Clement Quintard, Stephanie Nguyen, Josef M. Penninger. Engineering next generation vascularized organoid constructs. Atherosclerosis. 2024 Nov:398:118529. doi: 10.1016/j.atherosclerosis.2024.118529. Epub 2024 Jul 1. PMID: 39304390.

Salim Abdelilah-Seyfried, Hanjoong Jo. A renaissance of cerebral cavernous malformation proteins in vascular physiology. Nat Cardiovasc Res. 2024 Jul;3(7):771-773.doi: 10.1038/s44161-024-00504-1. PMID: 39196185. PMCID:PMC11824793.

Pascal Brouillard, Aino Murtomäki, Veli-Matti Leppänen, Marko Hyytiäinen, Sandrine Mestre, Lucas Potier, Laurence M. Boon, Nicole Revencu, Arin Greene, Andrey Anisimov, Miia H. Salo, Reetta Hinttala, Lauri Eklund, Isabelle Quéré, Kari Alitalo, Miikka Vikkula. Loss-of-function mutations of the TIE1 receptor tyrosine kinase cause late-onset primary lymphedema. J Clin Invest. 2024 May 30;134(14):e173586. doi: 10.1172/JCI173586. PMID: 38820174; PMCID: PMC11245153.

Emmanuel Seront, Antoine Froidure, Nicole Revencu, Valerie Dekeuleneer, Philippe Clapuyt, Dana Dumitriu, Miikka Vikkula, Laurence M Boon. Targeted treatment in complex lymphatic anomaly: a case of synergistic efficacy of trametinib and sirolimus. Orphanet J Rare Dis. 2024 May 16;19(1):199. doi: 10.1186/s13023-024-03211-z. PMID: 38750525. PMCID: PMC11097431.

Salim Abdelilah-Seyfried, Roxana Ola. Shear stress and pathophysiological PI3K involvement in vascular malformations. J Clin Invest. 2024 May 15;134(10):e172843. doi: 10.1172/JCI172843. PMID: 38747293; PMCID: PMC11093608.

Chaker Aloui, Lisa Neumann, Françoise Bergametti, Eric Sartori, Marc Herbreteau, Arnaud Maillard, Thibault Coste, Hélène Morel, Dominique Hervé, Hugues Chabriat, Serge Timsit, Irina Viakhireva, Yves Denoyer, Rémi Allibert, Florence Demurger, Cedric Gollion, Patrick Vermersch, Florence Marchelli, Corinne Blugeon, Sophie Lemoine, Claire Tourtier-Bellosta, Alexis Brouazin, Anne-Louise Leutenegger, Eva Pipiras, Elisabeth Tournier-Lasserve. An AluYa5 Insertion in the 3'UTR of COL4A1 and Cerebral Small Vessel Disease. JAMA Netw Open. 2024 Apr 1;7(4):e247034. doi: 10.1001/jamanetworkopen.2024.7034. PMID: 38630472; PMCID: PMC11024774.

*Martina De Bortoli, Angela Queisser, Van Cuong Pham, Anne Dompmartin, Raphael Helaers, Simon Boutry, Cathy Claus, An-Katried De Roo, Frank Hammer, Pascal Brouillard, Salim Abdelilah-Seyfried, Laurence M. Boon, Miikka Vikkula. Somatic loss-of-function PIK3R1 and activating non-hotspot PIK3CA mutations associated with Capillary Malformation with Dilated Veins (CMDV). Journal of Investigative Dermatology. J Invest Dermatol. 2024 Feb 29:S0022-202X(24)00164-7. Epub ahead of print. PMID: 38431221.

Clément Quintard, Emily Tubbs, Gustav Jonsson, Jie Jiao, Jun Wang, Nicolas Werschler, Camille Laporte, Amandine Pitaval, Thierno-Sidy Bah, Gideon Pomeranz, Caroline Bissardon, Joris Kaal, Alexandra Leopoldi, David A. Long, Pierre Blandin, Jean-Luc Achard, Christophe Battail, Astrid Hagelkruys, Fabrice Navarro, Yves Fouillet, Josef M. Penninger, Xavier Gidrol. A microfluidic platform integrating functional vascularized organoids-on-chip. Nat Commun. 2024 Feb 16;15(1):1452. doi:10.1038/s41467-024-45710-4. PMID: 38365780. PMCID: PMC10873332.

Martina De Bortoli, Marta Ivars, Nicole Revencu, Marie-Cécile Nassogne, Cinzia Lavarino, Sonia Paco, Martin Lammens, Anne Renders, Dana Dumitriu, Raphaël Helaers, Laurence M Boon, Eulalia Baselga, Miikka Vikkula. Epilepsy with faint capillary malformation or reticulated telangiectasia associated with mosaic AKT3 pathogenic variants. Am J Med Genet A. 2024 Feb 6:e63551. Epub ahead of print. PMID: 38321651.

Stephanie Frenz-Weissner, …, Kirill Salewskij, Gustav Jonsson, …, Josef M. Penninger, …, Christoph Klein. Generation of complex bone marrow organoids from human induced pluripotent stem cells. Nat Methods. 2024 Feb 19. Epub ahead of print. PMID: 38374263.

*Milagros Romay, …, Ana Mompeón, …, Jocelynda Salvador, …, Elisabeth Tournier‑Lasserve, …, M. Luisa Iruela-Arispe. Age-related loss of Notch3 underlies brain vascular contractility deficiencies, glymphatic dysfunction, and neurodegeneration in mice. JCI. 2024 Jan;134(2):e166134. PMID: 38015629. PMCID: PMC10786701.

Mariaelena Valentino, Matteo Malinverno, Claudio Maderna, Van-Cuong Pham, Claudia Rödel, Federica Zanardi, Maximiliano Arce, Lorenzo Drufuca, Grazisa Rossetti, Peetra Magnusson, Maria Grazia Lampugnani, Elisabetta Dejana, Salim Abdelilah-Seyfried, Massimiliano Pagani. BMI1 inhibition improves lesion burden in cerebral cavernous malformations. Circulation. 2024. In press.

 

2023

Francesca Lazzaroni, …, Nastasja Grdseloff, Claudia J. Rödel, …, Salim Abdelilah-Seyfried, …, Roberto Latini. Circulating biomarkers in familial cerebral cavernous malformation. EBioMedicine. 2024 Jan;99:104914. Epub 2023 Dec 18. PMID: 38113759. PMCID: PMC10767159.

*Yalda Afshar, Feiyang Ma, Austin Quach, Anhyo Jeong, Hannah L. Sunshine, Vanessa Freitas, Yasaman Jami-Alahmadi, Raphael Helaers, Xinmin Li, Matteo Pellegrini, James A. Wohlschlegel, Casey E. Romanoski, Miikka Vikkula, M. Luisa Iruela-Arispe. Transcriptional drifts associated with environmental changes in endothelial cells. Elife. 2023 Mar;12:e81370. doi: 10.7554/eLife.81370. PMID: 36971339. PMCID: PMC10168696.

Murat Alpaslan, Sandrine Mestré-Godin, Aurélie Lay, Guido Giacalone, Raphaël Helaers, Salma Adham, Hélène Kovacsik, Sophie Guillemard, Erick Mercier, Laurence Boon, Nicole Revencu, Pascal Brouillard, Isabelle Quere, Vikkula Miikka. Ureteropelvic junction obstruction with primary lymphedema associated with celsr1 variants. J Med Genet. 2023 May;jmg-2023-109171. doi: 10.1136/jmg-2023-109171. Epub ahead of print. PMID: 37225411.

Haley R Barlow, Neha Ahuja, Tyler Bierschenk, Yadanar Htike, Luke Fassetta, D Berfin Azizoglu, Juan Flores, Nan Gao, Sean De la O, Julie B Sneddon, Denise K Marciano, Ondine Cleaver. Rab11 is essential to pancreas morphogenesis, lumen formation and endocrine mass. Dev Biol. 2023 Jul;499:59-74. doi: 10.1016/j.ydbio.2023.05.002. Epub 2023 May 10. PMID: 37172642.

Riley A Cooney, Maxwell L Saal, Kara P Geraci, Caitlin Maynard, Ondine Cleaver, Oanh N Hoang, Todd T Moore, Rosa F Hwang, Jeffrey D. Axelrod, Eszter K. Vladar. A WNT4- and DKK3-driven canonical to noncanonical Wnt signaling switch controls multiciliogenesis. J Cell Sci. 2023 Aug 15;136(16):jcs260807. doi: 10.1242/jcs.260807. Epub 2023 Aug 29. PMID: 37505110; PMCID: PMC10482387.

Shane J. F. Cronin, Lance S. Davidow, Anthony C. Arvanites, Lee L. Rubin, Josef M. Penninger, Clifford J. Woolf. Implementation of a Drug Screening Platform to TargetGch1 Expression in Injured Mouse Dorsal Root Ganglion Neurons. Bio Protoc. 2023 May 5;13(9):e4666. doi: 10.21769/BioProtoc.4666. PMID: 37188109; PMCID: PMC10176205.

Jan Gehlen,...., Dinara Sharipova, …, Salim Abdelilah-Seyfried, …, Johannes Schumacher. Elucidation of the genetic causes of bicuspid aortic valve disease. Cardiovasc Res. 2023 May 2;119(3):857-866. PMID: 35727948. PMCID: PMC10153415.

*Nastasja Grdseloff, Gwenola Boulday, Claudia J. Rödel, Cécile Otten, Daphné R Vannier, Cécile Cardoso, Eva Faurobert, Deepika Dogra, Elisabeth Tournier-Lasserve, Salim Abdelilah-Seyfried. Impaired retinoic acid signaling in cerebral cavernous malformations. Scientific Reports. 2023;13(1):5572. doi: 10.1038/s41598-023-31905-0.

Stéphanie Guey, Dominique Hervé, Manoëlle Kossorotoff, Guillaume Ha, Chaker Aloui, Françoise Bergametti, Minh Arnould, Hind Guenou, Jessica Hadjadj, Fanny Dubois Teklali, Florence Riant, Jean-Luc Balligand, Georges Uzan, Bruno O. Villoutreix, Elisabeth Tournier-Lasserve. Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathy. Hum Genomics. 2023 Mar 20;17(1):24. doi: 10.1186/s40246-023-00471-x. PMID: 36941667; PMCID: PMC10026487.

Chitkale Hiremath, Lei Gao, Kenya Geshow, Quinten Patterson, Haley Barlow, Ondine Cleaver, Denise K Marciano. Rap1 regulates lumen continuity via Afadin in renal epithelia. Dev Biol. 2023 Sep;501:20-27. doi: 10.1016/j.ydbio.2023.05.003. Epub 2023 Jun 3. PMID: 37276970; PMCID: PMC10460627.

Nagesha Guthalu Kondegowda, Joanna Filipowska, Jeong-Su Do, Nancy Leon-Rivera, Rosemary Li, Rollie Hampton, Selassie Ogyaadu, Camilla Levister, Josef M. Penninger, Helena Reijonen, Carol J. Levy, Rupangi C. Vasavada. RANKL/RANK is required for cytokine-induced beta cell death; osteoprotegerin, a RANKL inhibitor, reverses rodent type 1 diabetes. Sci Adv. 2023 Nov 3;9(44):eadf5238. doi: 10.1126/sciadv.adf5238. Epub 2023 Nov 1. PMID: 37910614; PMCID: PMC10619938.

Mauro Lecca, …, Thibault Coste, …, Elisabeth Tournier-Lasserve, …, Edoardo Errichiello. Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage. Am J Hum Genet. 2023 Apr 6;110(4):681-690. doi: 10.1016/j.ajhg.2023.03.005. Epub 2023 Mar 29. PMID: 36996813; PMCID: PMC10119151

Peter M. Luo, Xiaowu Gu, Christopher Chaney, Thomas Carroll, Ondine Ondine. Stromal netrin-1 coordinates renal arteriogenesis and mural cell differentiation. Development. 2023 Oct 12:dev.201884. doi: 10.1242/dev.201884. Epub ahead of print. PMID: 37823339.

Barizah Malik, Iva Vokic, Thomas Mohr, Marle Poppelaars, Martin Holcmann, Philipp Novoszel, Gerald Timelthaler, Timelthaler Lendl, Dana Krauss, Ulrich Elling, Michael Mildner, Josef M. Penninger, Peter Petzelbauer, Maria Sibilia, Agnes Csiszar. FAM3C/ILEI protein is elevated in psoriatic lesions and triggers psoriasiform hyperproliferation in mice. EMBO Mol Med. 2023 Jul 10;15(7):e16758. doi: 10.15252/emmm.202216758. Epub 2023 May 25. PMID: 37226685; PMCID: PMC10331587.

Vanessa Monteil, …, Gustav Jonsson, …, Josef M. Penninger, Ali Mirazimi. Identification of CCZ1 as an essential lysosomal trafficking regulator in Marburg and Ebola virus infections. Nat Commun. 2023 Oct 25;14(1):6785. doi: 10.1038/s41467-023-42526-6. PMID: 37880247; PMCID: PMC10600203.

Masahiro Onji, Josef M. Penninger. RANKL and RANK in Cancer Therapy. Physiology (Bethesda). 2023 May 1;38(3):0. doi: 10.1152/physiol.00020.2022. Epub 2022 Dec 6. PMID: 36473204.

Yu Onodera, …, Josef M Penninger, …, Haibo Zhang. Inhalation of ACE2 as a therapeutic target on sex-bias differences in SARS-CoV-2 infection and variant of concern. iScience. 2023 Jul 25;26(8):107470. doi: 10.1016/j.isci.2023.107470. PMID: 37609639; PMCID: PMC10440513.

Alessio Paolini, Dinara Sharipova, Tim Lange, Seyfried Abdelilah-Seyfried. Wnt9 directs zebrafish heart tube assembly via a combination of canonical and non-canonical pathway signaling. Development. 2023 Sep 15;150(18):dev201707. doi: 10.1242/dev.201707. Epub 2023 Sep 25. Erratum in: Development. 2023 Nov 1;150(21): PMID: 37680191; PMCID: PMC10560569.

Amélie Pinard, …, Elisabeth Tournier-Lasserve, …, Dianna M. Milewicz. Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya disease. Brain. 2023 Sep 1;146(9):3616-3623. doi: 10.1093/brain/awad172. Erratum in: Brain. 2023 Aug 18. PMID: 37253099; PMCID: PMC10473557.

Emmanuel Seront, Jean Marc Biard, An Van Damme, Nicole Revencu, Benoit Lengelé, Sandra Schmitz, Caroline de Toeuf, Philippe Clapuyt, Fancis Veyckemans, Caroline Prégardien, Miikka Vikkula, Pierre Bernard, Laurence M. Boon. A case report of sirolimus use in early fetal management of lymphatic malformation. Nat Cardiovasc Res. 2023 Jun; 2, 595–599. doi: 10.1038/s44161-023-00280-4.

Emmanuel Seront, An Van Damme, Catherine Legrand, Annouk Bisdorff-Bresson, Philippe Orcel, Thomas Funck-Brentano, Marie-Antoinette Sevestre, Anne Dompmartin, Isabelle Quere, Pascal Brouillard, Nicole Revencu, Martina De Bortoli, Frank Hammer, Philippe Clapuyt, Dana Dumitriu, Miikka Vikkula, Laurence M. Boon. Preliminary results of the European multicentric phase III trial regarding sirolimus in slow-flow vascular malformations. JCI Insight. 2023 Nov 8;8(21):e173095. doi: 10.1172/jci.insight.173095. PMID: 37937645.

Busa Turgu, Amal El-Naggar, Melanie Kogler, Luigi Tortola, Han-Feng Zhang, Mariam Hassan, Michael M. Lizardo, Sonia Hy Kung, Wan Lam, Josef M. Penninger, Poul H. Sorensen. The HACE1 E3 ligase mediates RAC1-dependent control of mTOR signaling complexes. EMBO Rep. 2023 Oct 17:e56815. doi: 10.15252/embr.202356815. Epub ahead of print. PMID: 37846480.

Viviana L. Vedder, Tobias Reinberger, Syed M.I. Haider, Luis Eichelmann, Nadine Odenthal, Salim Abdelilah-Seyfried, Zouhair Aherrahrou, Maximilian Breuer, Jeanette Erdmann. pyHeart4Fish: Chamber-specific heart phenotype quantification of zebrafish in high-content screens. Front Cell Dev Biol. 2023 Apr 11;11:1143852. doi: 10.3389/fcell.2023.1143852. PMID: 37113769; PMCID: PMC10126419.

Ilio Vitale, …, Josef M. Penninger, …, Lorenzo Galluzzi. Apoptotic cell death in disease-Current understanding of the NCCD 2023. Cell Death Differ. 2023 May;30(5):1097-1154. doi: 10.1038/s41418-023-01153-w. Epub 2023 Apr 26. PMID: 37100955; PMCID: PMC10130819.

Kaiming Wang, Mobin Khoramjoo, Karthik Srinivasan, Paul M.K. Gordon, Rupasri Mandal, Dana Jackson, Wendy Sligl, Maria B. Grant, Josef M. Penninger, Christoph H. Borchers, David S. Wishart, Vinay Prasad, Gavin Y. Oudit. Sequential multi-omics analysis identifies clinical phenotypes and predictive biomarkers for long COVID. Cell Rep Med. 2023 Oct 18:101254. doi: 10.1016/j.xcrm.2023.101254. Epub ahead of print. PMID: 37890487.

 

2022

*Abdelilah-Seyfried Salim, Iruela-Arispe Maria Luisa, Penninger Josef M., Tournier-Lasserve Elizebeth, Vikkula Miikka, Cleaver Ondine. 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.

2023

Nguyen HL, Boon LM, Vikkula Miikka. Trametinib as a promising therapeutic option in alleviating vascular defects in an endothelial KRAS-induced mouse model. Hum Mol Genet. 2023 Jan 6;32(2):276-289. doi: 10.1093/hmg/ddac169. PMID:35972810.

2022

*Ahuja N, Hiltabidle MS, Rajasekhar H, Voss S, Lu SZ, Barlow HR, Cowdin Mitzy A, Daniel E, Vaddaraju V, Anandakumar T, Black E, Cleaver Ondine, Maynard C. Endothelial Cyp26b1 restrains murine heart valve growth during development. Dev Biol. 2022 Jun;486:81-95. doi: 10.1016/j.ydbio.2022.03.003. Epub 2022 Mar 29. PMID: 35364055.

Boon LM, Dekeuleneer V, Coulie J, Marot L, Bataille AC, Hammer F, Clapuyt P, Jeanjean A, Dompmartin A, Vikkula Miikka. Case report study of thalidomide therapy in 18 patients with severe arteriovenous malformations. Nat Cardiovasc Res. 2022 Jun 10;1(617):562–567. doi: 10.1038/s44161-022-00080-2.

*Byrne AB, Brouillard Pascal, Sutton DL, Kazenwadel J, Montazaribarforoushi S, Secker GA, Oszmiana A, Babic M, Betterman KL, Brautigan PJ, White M, Piltz SG, Thomas PQ, Hahn CN, Rath M, Felbor U, Korenke GC, Smith CL, Wood KH, Sheppard SE, Adams DM, Kariminejad A, Helaers Raphael, Boon LM, Revencu N, Moore L, Barnett C, Haan E, Arts P, Vikkula Miikka, Scott HS, Harvey NL. Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema. Sci Transl Med. 2022 Mar 2;14(634):eabm4869. doi: 10.1126/scitranslmed.abm4869. Epub 2022 Mar 2. PMID: 35235341.

Calvanese V, Capellera-Garcia S, Ma F, Fares I, Liebscher S, Ng ES, Ekstrand S, Aguadé-Gorgorió J, Vavilina A, Lefaudeux D, Nadel B, Li JY, Wang Y, Lee LK, Ardehali R, Iruela-Arispe Maria Luisa, Pellegrini M, Stanley EG, Elefanty AG, Schenke-Layland K, Mikkola HKA. Mapping human haematopoietic stem cells from haemogenic endothelium to birth. Nature. 2022 Apr;604(7906):534-540. doi: 10.1038/s41586-022-04571-x. Epub 2022 Apr 13. PMID: 35418685; PMCID: PMC9645817.

*Cikes D, Atanes P, Cronin SJF, Hagelkrüys Astrid, Huang GC, Persaud SJ, Penninger Josef M. Neuropeptide Neuromedin B does not alter body weight and glucose homeostasis nor does it act as an insulin-releasing peptide. Sci Rep. 2022 Jun 7;12(1):9383. doi: 10.1038/s41598-022-13060-0. PMID: 35672347; PMCID: PMC9174263.

*Cordisco MR, El-Feghaly J, Prezzano JC, Lanöel A, Torres N, Persico S, Requejo F, Sierre S, Fiandrino MJ, Luna L, Maccario MF, Brouillard Pascal, Vikkula Miikka. Capillary Malformation-Arteriovenous Malformation Type 2, A Report of 6 Cases and Main Differential Diagnosis. Journal of Vascular Anomalies. 2022 Dec;3(4):p e053. doi: 10.1097/JOVA.0000000000000053.

Coulie J, Boon L, Vikkula Miikka. Molecular pathways and possible therapies for head and neck vascular anomalies. J Oral Pathol Med. 2022 Nov;51(10):878-887. doi: 10.1111/jop.13318. Epub 2022 Jul 4. PMID: 35610188.

Curio S, Edwards SC, Suzuki T, McGovern J, Triulzi C, Yoshida N, Jonsson Gustav, Glauner T, Rami D, Wiesheu R, Kilbey A, Violet Purcell R, Coffelt SB, Guerra N. NKG2D signaling regulates IL-17A-producing γδT cells in mice to promote cancer progression. Discov Immunol. 2022 May 10;1(1):kyac002. doi: 10.1093/discim/kyac002. PMID: 36277678; PMCID: PMC9580227.

Diociaiuti A, Baselga E, Boon LM, Dompmartin A, Dvorakova V, El Hachem M, Gasparella P, Haxhija E, Ghaffarpour N, Kyrklund K, Irvine AD, Kapp FG, Rößler J, Salminen P, van den Bosch C, van der Vleuten C, Kool LS, Vikkula Miikka. The VASCERN-VASCA working group diagnostic and management pathways for severe and/or rare infantile hemangiomas. Eur J Med Genet. 2022 Jun;65(6):104517. doi: 10.1016/j.ejmg.2022.104517. Epub 2022 Apr 27. PMID: 35487416.

Dompmartin A, van der Vleuten CJM, Dekeuleneer V, Duprez T, Revencu N, Désir J, Te Loo DMWM, Flucke U, Eijkelenboom A, Schultze Kool L, Vikkula Miikka, Boon L. GNA11-mutated Sturge-Weber syndrome has distinct neurological and dermatological features. Eur J Neurol. 2022 Oct;29(10):3061-3070. doi: 10.1111/ene.15452. Epub 2022 Jul 13. PMID: 35715928.

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Garelnabi M, Cowdin Mitzy, Fang Y, Shrestha B, Ushio-Fukai M, Aikawa E, Graham G, Molema G, Yanagisawa H, Aikawa M. Embracing Diversity, Equity, and Inclusion in the Scientific Community-Viewpoints of the Diversity, Equity, and Inclusion Committee of the North American Vascular Biology Organization. Front Cardiovasc Med. 2022 Apr 13;9:863256. doi: 10.3389/fcvm.2022.863256. PMID: 35463765; PMCID: PMC9021758.

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Georges A, Yang ML, Berrandou TE, Bakker MK, Dikilitas O, Kiando SR, Ma L, Satterfield BA, Sengupta S, Yu M, Deleuze JF, Dupré D, Hunker KL, Kyryachenko S, Liu L, Sayoud-Sadeg I, Amar L, Brummett CM, Coleman DM, d'Escamard V, de Leeuw P, Fendrikova-Mahlay N, Kadian-Dodov D, Li JZ, Lorthioir A, Pappaccogli M, Prejbisz A, Smigielski W, Stanley JC, Zawistowski M, Zhou X, Zöllner S; FEIRI investigators; International Stroke Genetics Consortium (ISGC) Intracranial Aneurysm Working Group; MEGASTROKE; Amouyel P, De Buyzere ML, Debette S, Dobrowolski P, Drygas W, Gornik HL, Olin JW, Piwonski J, Rietzschel ER, Ruigrok YM, Vikkula Miikka, Warchol Celinska E, Januszewicz A, Kullo IJ, Azizi M; ARCADIA Investigators; Jeunemaitre X, Persu A, Kovacic JC, Ganesh SK, Bouatia-Naji N. Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases. Nat Commun. 2021 Oct 15;12(1):6031. doi: 10.1038/s41467-021-26174-2. Erratum in: Nat Commun. 2022 Apr 20;13(1):2251. PMID: 34654805; PMCID: PMC8521585.

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Ghaffarpour N, Baselga E, Boon LM, Diociaiuti A, Dompmartin A, Dvorakova V, El Hachem M, Gasparella P, Haxhija E, Kyrklund K, Irvine AD, Kapp FG, Rößler J, Salminen P, van den Bosch C, van der Vleuten C, Kool LS, Vikkula Miikka. The VASCERN-VASCA working group diagnostic and management pathways for lymphatic malformations. Eur J Med Genet. 2022 Dec;65(12):104637. doi: 10.1016/j.ejmg.2022.104637. Epub 2022 Oct 9. PMID: 36223836.

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Ihara M, Yamamoto Y, Hattori Y, Liu W, Kobayashi H, Ishiyama H, Yoshimoto T, Miyawaki S, Clausen T, Bang OY, Steinberg GK, Tournier-Lasserve Elisabeth, Koizumi A. Moyamoya disease: diagnosis and interventions. Lancet Neurol. 2022 Aug;21(8):747-758. doi: 10.1016/S1474-4422(22)00165-X. Epub 2022 May 20. PMID: 35605621.

Kent RS, Briggs EM, Colon BL, Alvarez Catalina, Silva Pereira S, De Niz M. Paving the Way: Contributions of Big Data to Apicomplexan and Kinetoplastid Research. Front Cell Infect Microbiol. 2022 Jun 6;12:900878. doi: 10.3389/fcimb.2022.900878. PMID: 35734575; PMCID: PMC9207352.

Latosinska A, Bruno RM, Pappaccogli M, Bacca A, Beauloye C, Boutouyrie P, Khettab H, Staessen JA, Taddei S, Toubiana L, Vikkula Miikka, Mischak H, Persu A. Increased Collagen Turnover Is a Feature of Fibromuscular Dysplasia and Associated With Hypertrophic Radial Remodeling: A Pilot, Urine Proteomic Study. Hypertension. 2022 Jan;79(1):93-103. doi: 10.1161/HYPERTENSIONAHA.121.18146. Epub 2021 Nov 17. PMID: 34788057.

Mompeón Ana, Pérez-Cremades D, Paes AB, Sanchis J, Ortega-Paz L, Andrea R, Brugaletta S, Sabate M, Novella S, Dantas AP, Hermenegildo C. Circulating miRNA Fingerprint and Endothelial Function in Myocardial Infarction: Comparison at Acute Event and One-Year Follow-Up. Cells. 2022 Jun 2;11(11):1823. doi: 10.3390/cells11111823. PMID: 35681518; PMCID: PMC9180782.

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Muratoglu SC, Charette MF, Galis ZS, Greenstein AS, Daugherty A, Joutel A, Kozel BA, Wilcock DM, Collins EC, Sorond FA, Howell GR, Hyacinth HI, Lloyd KKC, Stenmark KR, Boehm M, Kahn ML, Corriveau R, Wells S, Bussey TJ, Sukoff Rizzo SJ, Iruela-Arispe Maria Luisa. Perspectives on Cognitive Phenotypes and Models of Vascular Disease. Arterioscler Thromb Vasc Biol. 2022 Jul;42(7):831-838. doi: 10.1161/ATVBAHA.122.317395. Epub 2022 May 5. PMID: 35510549; PMCID: PMC9233038.

Papadimitriou S, Gravel B, Nachtegael C, De Baere E, Loeys B, Vikkula Miikka, Smits G, Lenaerts T. Toward reporting standards for the pathogenicity of variant combinations involved in multilocus/oligogenic diseases. HGG Adv. 2022 Dec 2;4(1):100165. doi: 10.1016/j.xhgg.2022.100165. PMID: 36578772; PMCID: PMC9791921.

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Tas B, Starnoni D, Smajda S, Vivanti AJ, Adamsbaum C, Eyries M, Melki J, Tawk M, Ozanne A, Revencu N, Soubrier F, Siala S, Vikkula Miikka, Deiva K, Saliou G. Arteriovenous Cerebral High Flow Shunts in Children: From Genotype to Phenotype. Front Pediatr. 2022 Apr 25;10:871565. doi: 10.3389/fped.2022.871565. PMID: 35547535; PMCID: PMC9081809.