Publications

*publications with 2 or more network members

 

2023

*Afshar Yalda, Ma Feiyang, Quach Austin, Jeong Anhyo, Sunshine Hannah L., Freitas Vanessa, Jami-Alahmadi Yasaman, Helaers Raphael, Li Xinmin, Pellegrini Matteo, Wohlschlegel James A., Romanoski Casey E., Vikkula Miikka, Iruela-Arispe Maria Luisa. Transcriptional drifts associated with environmental changes in endothelial cells. Elife. 2023 Mar 27;12:e81370. doi: 10.7554/eLife.81370. Epub ahead of print. PMID: 36971339.

*Alpaslan Murat,+ Mestre S,+ Lay A, Giacalone G, Helaers Raphael, Adham S, Kovacsik H, Guillemard S, Mercier E, Boon LM, Revencu N, Brouillard Pascal, Quere I,# Vikkula Miikka#. Ureteropelvic junction obstruction with primary lymphedema associated with celsr1 variants. Journal of Medical Genetics – Submitted – Under Revision
+ these and # these authors contributed equally.

*Guey Stéphanie, Hervé Dominique, Kossorotoff Manoëlle, Ha Guillaume, Aloui Chaker, Bergametti Françoise, Arnould Minh, Guenou Hind, Hadjadj Jessica, Dubois Teklali Fanny, Riant Florence, Balligand Jean-Luc, Uzan Georges, Villoutreix Bruno O., Tournier-Lasserve Elisabeth. 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.

*Lecca Mauro, Pehlivan Davut, Suñer Damià Heine, Weiss Karin, Coste Thibault, Zweier Markus, Oktay Yavuz, Danial-Farran Nada, Rosti Vittorio, Bonasoni Maria Paola, Malara Alessandro, Contrò Gianluca, Zuntini Roberta, Pollazzon Marzia, Pascarella Rosario, Neri Alberto, Fusco Carlo, Marafi Dana, Mitani Tadahiro, Posey Jennifer Ellen, Bayramoglu Sadik Etka, Gezdirici Alper, Hernandez-Rodriguez Jessica, Cladera Emilia Amengual, Miravet Elena, Roldan-Busto Jorge, Ruiz María Ageles, Bauzá Cristofol Vives, Ben-Sira Liat, Sigaudy Sabine, Begemann Anaïs, Unger Sheila, Güngör Serdal, Hiz Semra, Sonmezler Ece, Zehavi Yoav, Jerdev Michael, Balduini Alessandra, Zuffardi Orzetta, Horvath Rita, Lochmüller Hanns, Rauch Anita, Garavelli Livia, Tournier-Lasserve Elisabeth, Spiegel Ronen, Lupski James R., Errichiello Edoardo. Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage. Am J Hum Genet. 2023 Mar 26:S0002-9297(23)00089-7. doi: 10.1016/j.ajhg.2023.03.005. Epub ahead of print. PMID: 36996813.

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.

*Fell CW, Hagelkruys Astrid, Cicvaric A, Horrer M, Liu L, Li JSS, Stadlmann J, Polyansky AA, Mereiter S, Tejada MA, Kokotović T, Achuta VS, Scaramuzza A, Twyman KA, Morrow MM, Juusola J, Yan H, Wang Jun, Burmeister M, Choudhury B, Andersen TL, Wirnsberger G, Holmskov U, Perrimon N, Žagrović B, Monje FJ, Moeller JB, Penninger Josef M, Nagy V. FIBCD1 is an endocytic GAG receptor associated with a novel neurodevelopmental disorder. EMBO Mol Med. 2022 Sep 7;14(9):e15829. doi: 10.15252/emmm.202215829. Epub 2022 Aug 2. PMID: 35916241; PMCID: PMC9449597.

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.

*Gawish R, Starkl P, Pimenov L, Hladik A, Lakovits K, Oberndorfer F, Cronin SJ, Ohradanova-Repic A, Wirnsberger G, Agerer B, Endler L, Capraz T, Perthold JW, Cikes D, Koglgruber R, Hagelkruys Astrid, Montserrat N, Mirazimi A, Boon L, Stockinger H, Bergthaler A, Oostenbrink C, Penninger Josef M, Knapp S. ACE2 is the critical in vivo receptor for SARS-CoV-2 in a novel COVID-19 mouse model with TNF- and IFNγ-driven immunopathology. Elife. 2022 Jan 13;11:e74623. doi: 10.7554/eLife.74623. PMID: 35023830; PMCID: PMC8776253.

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.

*Garreta E, Prado P, Stanifer ML, Monteil V, Marco A, Ullate-Agote A, Moya-Rull D, Vilas-Zornoza A, Tarantino C, Romero JP, Jonsson G, Oria R, Leopoldi Alexandra, Hagelkruys Astrid, Gallo M, González F, Domingo-Pedrol P, Gavaldà A, Del Pozo CH, Hasan Ali O, Ventura-Aguiar P, Campistol JM, Prosper F, Mirazimi A, Boulant S, Penninger Josef M, Montserrat N. A diabetic milieu increases ACE2 expression and cellular susceptibility to SARS-CoV-2 infections in human kidney organoids and patient cells. Cell Metab. 2022 Jun 7;34(6):857-873.e9. doi: 10.1016/j.cmet.2022.04.009. Epub 2022 May 12. PMID: 35561674; PMCID: PMC9097013.

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.

*Hagelkruys Astrid, Horrer M, Taubenschmid-Stowers J, Kavirayani A, Novatchkova M, Orthofer M, Pai TP, Cikes D, Zhuk S, Balmaña M, Esk C, Koglgruber R, Moeseneder P, Lazovic J, Zopf LM, Cronin SJF, Elling U, Knoblich JA, Penninger Josef M. The HUSH complex controls brain architecture and protocadherin fidelity. Sci Adv. 2022 Nov 4;8(44):eabo7247. doi: 10.1126/sciadv.abo7247. Epub 2022 Nov 4. PMID: 36332029; PMCID: PMC9635835.

*Hernandez GE, Ma F, Martinez G, Firozabadi NB, Salvador Jocelynda, Juang LJ, Leung J, Zhao P, López DA, Ardehali R, Beaudin AE, Kastrup CJ, Pellegrini M, Flick MJ, Iruela-Arispe Maria Luisa. Aortic intimal resident macrophages are essential for maintenance of the non-thrombogenic intravascular state. Nat Cardiovasc Res. 2022 Jan;1(1):67-84. doi: 10.1038/s44161-021-00006-4. Epub 2022 Jan 12. PMID: 35599984; PMCID: PMC9121812.

*Humbert PO, Pryjda TZ, Pranjic B, Farrell A, Fujikura K, de Matos Simoes R, Karim R, Kozieradzki I, Cronin SJF, Neely GG, Meyer TF, Hagelkruys Astrid, Richardson HE, Penninger Josef M. Correction: TSPAN6 is a suppressor of Ras-driven cancer. Oncogene. 2022 Apr;41(14):2138. doi: 10.1038/s41388-022-02265-2. Erratum for: Oncogene. 2022 Apr;41(14):2095-2105. PMID: 35292775; PMCID: PMC8975738.

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.

*Monteil V, Eaton B, Postnikova E, Murphy M, Braunsfeld B, Crozier I, Kricek F, Niederhöfer J, Schwarzböck A, Breid H, Devignot S, Klingström J, Thålin C, Kellner MJ, Christ W, Havervall S, Mereiter S, Knapp S, Jimenez AS, Bugajska-Schretter A, Dohnal A, Ruf C, Gugenberger R, Hagelkruys Astrid, Montserrat N, Kozieradzki I, Ali OH, Stadlmann J, Holbrook MR, Schmaljohn C, Oostenbrink C, Shoemaker RH, Mirazimi A, Wirnsberger G, Penninger Josef M. Clinical grade ACE2 as a universal agent to block SARS-CoV-2 variants. EMBO Molecular Medicine. 2022 July 4;14: e15230.

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.

*Salvador Jocelynda, Hernandez GE, Ma F, Abrahamson CW, Pellegrini M, Goldman R, Ridge KM, Iruela-Arispe Maria Luisa. Transcriptional Evaluation of the Ductus Arteriosus at the Single-Cell Level Uncovers a Requirement for Vim (Vimentin) for Complete Closure. Arterioscler Thromb Vasc Biol. 2022 Jun;42(6):732-742. doi: 10.1161/ATVBAHA.121.317172. Epub 2022 Apr 21. PMID: 35443793; PMCID: PMC9806842.

*Salvador Jocelynda, Iruela-Arispe Maria Luisa. Nuclear Mechanosensation and Mechanotransduction in Vascular Cells. Front Cell Dev Biol. 2022 Jun 17;10:905927. doi: 10.3389/fcell.2022.905927. PMID: 35784481; PMCID: PMC9247619.

*Solmonson A, Faubert B, Gu W, Rao A, Cowdin Mitzy A, Menendez-Montes I, Kelekar S, Rogers TJ, Pan C, Guevara G, Tarangelo A, Zacharias LG, Martin-Sandoval MS, Do D, Pachnis P, Dumesnil D, Mathews TP, Tasdogan A, Pham A, Cai L, Zhao Z, Ni M, Cleaver Ondine, Sadek HA, Morrison SJ, DeBerardinis RJ. Compartmentalized metabolism supports midgestation mammalian development. Nature. 2022 Apr;604(7905):349-353. doi: 10.1038/s41586-022-04557-9. Epub 2022 Apr 6. PMID: 35388219; PMCID: PMC9007737.

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.