Couto JA, Huang AY, Konczyk DJ, Goss JA, Fishman SJ, Mulliken JB, Warman ML, Greene AK (2017) Somatic MAP2K1 mutations are associated with extracranial arteriovenous malformation. Am J Hum Genet 100:546–554. https://doi.org/10.1016/j.ajhg.2017.01.018

CAS  Article  PubMed  PubMed Central  Google Scholar 

Smits PJ, Konczyk DJ, Sudduth CL, Goss JA, Greene AK (2020) Endothelial MAP2K1 mutations in arteriovenous malformation activate the RAS/MAPK pathway. Biochem Biophys Res Commun 529:450–454. https://doi.org/10.1016/j.bbrc.2020.06.022

CAS  Article  PubMed  PubMed Central  Google Scholar 

Sudduth CL, McGuire AM, Smits PJ, Konczyk DJ, Al-Ibraheemi A, Fishman SJ, Greene AK (2020) Arteriovenous malformation phenotype resembling congenital hemangioma contains KRAS mutations. Clin Genet 98:595–597. https://doi.org/10.1111/cge.13833

CAS  Article  PubMed  PubMed Central  Google Scholar 

Konczyk DJ, Goss JA, Smits PJ, Huang AY, Al-Ibraheemi A, Sudduth CL, Warman ML, Greene AK (2019) Arteriovenous malformation associated with a HRAS mutation. Hum Genet 138:1419–1421. https://doi.org/10.1007/s00439-019-02072-y

CAS  Article  PubMed  PubMed Central  Google Scholar 

Goss JA, Konczyk DJ, Smits PJ, Kozakewich HPW, Alomari AI, Al-Ibraheemi A, Taghinia AH, Dickie BH, Adams DM, Fishman SJ, Mulliken JB, Warman ML, Greene AK (2019) Intramuscular fast-flow vascular anomaly contains somatic MAP2K1 and KRAS mutations. Angiogenesis 22:547–552. https://doi.org/10.1007/s10456-019-09678-w

CAS  Article  PubMed  PubMed Central  Google Scholar 

Al-Olabi L, Polubothu S, Dowsett K, Andrews KA, Stadnik P, Joseph AP, Knox R, Pittman A, Clark G, Baird W, Bulstrode N, Glover M, Gordon K, Hargrave D, Huson SM, Jacques TS, James G, Kondolf H, Kangesu L, Keppler-Noreuil KM, Khan A, Lindhurst MJ, Lipson M, Mansour S, O’Hara J, Mahon C, Mosica A, Moss C, Murthy A, Ong J, Parker VE, Riviere JB, Sapp JC, Sebire NJ, Shah R, Sivakumar B, Thomas A, Virasami A, Waelchli R, Zeng Z, Biesecker LG, Barnacle A, Topf M, Semple RK, Patton EE, Kinsler VA (2018) Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy. J Clin Invest 128:1496–1508. https://doi.org/10.1172/JCI98589

Article  PubMed  PubMed Central  Google Scholar 

Fish JE, Flores Suarez CP, Boudreau E, Herman AM, Gutierrez MC, Gustafson D, DiStefano PV, Cui M, Chen Z, De Ruiz KB, Schexnayder TS, Ward CS, Radovanovic I, Wythe JD (2020) Somatic gain of KRAS function in the endothelium is sufficient to cause vascular malformations that require MEK but Not PI3K signaling. Circ Res 127:727–743. https://doi.org/10.1161/CIRCRESAHA.119.316500

CAS  Article  PubMed  PubMed Central  Google Scholar 

Alva JA, Zovein AC, Monvoisin A, Murphy T, Salazar A, Harvey NL, Carmeliet P, Iruela-Arispe ML (2006) VE-Cadherin-Cre-recombinase transgenic mouse: a tool for lineage analysis and gene deletion in endothelial cells. Dev Dyn 235:759–767. https://doi.org/10.1002/dvdy.20643

CAS  Article  PubMed  Google Scholar 

Konczyk DJ, Goss JA, Smits PJ, Sudduth CL, Al-Ibraheemi A, Greene AK (2020) Arteriovenous malformation MAP2K1 mutation causes local cartilage overgrowth by a cell-non autonomous mechanism. Sci Rep 10:4428. https://doi.org/10.1038/s41598-020-61444-x

CAS  Article  PubMed  PubMed Central  Google Scholar 

Al-Shahi R, Fang JS, Lewis SC, Warlow CP (2002) Prevalence of adults with brain arteriovenous malformations: a community based study in Scotland using capture-recapture analysis. J Neurol Neurosurg Psychiatry 73:547–551. https://doi.org/10.1093/brain/124.10.1900

CAS  Article  PubMed  PubMed Central  Google Scholar 

Venot Q, Blanc T, Rabia SH, Berteloot L, Ladraa S, Duong JP, Blanc E, Johnson SC, Hoguin C, Boccara O, Sarnacki S, Boddaert N, Pannier S, Martinez F, Magassa S, Yamaguchi J, Knebelmann B, Merville P, Grenier N, Joly D, Cormier-Daire V, Michot C, Bole-Feysot C, Picard A, Soupre V, Lyonnet S, Sadoine J, Slimani L, Chaussain C, Laroche-Raynaud C, Guibaud L, Broissand C, Amiel J, Legendre C, Terzi F, Canaud G (2018) Targeted therapy in patients with PIK3CA-related overgrowth syndrome. Nature 558:540–546. https://doi.org/10.1038/s41586-018-0217-9

CAS  Article  PubMed  PubMed Central  Google Scholar 

Kinross KM, Montgomery KG, Mangiafico SP, Hare LM, Kleinschmidt M, Bywater MJ, Poulton IJ, Vrahnas C, Henneicke H, Malaterre J, Waring PM, Cullinane C, Sims NA, McArthur GA, Andrikopoulos S, Phillips WA (2015) Ubiquitous expression of the Pik3caH1047R mutation promotes hypoglycemia, hypoinsulinemia, and organomegaly. FASEB J 29:1426–1434. https://doi.org/10.1096/fj.14-262782

CAS  Article  PubMed  Google Scholar 

Lake D, Correa SA, Muller J (2016) Negative feedback regulation of the ERK1/2 MAPK pathway. Cell Mol Life Sci 73:4397–4413. https://doi.org/10.1007/s00018-016-2297-8

CAS  Article  PubMed  PubMed Central  Google Scholar 

Wang Y, Nakayama M, Pitulescu ME, Schmidt TS, Bochenek ML, Sakakibara A, Adams S, Davy A, Deutsch U, Luthi U, Barberis A, Benjamin LE, Makinen T, Nobes CD, Adams RH (2010) Ephrin-B2 controls VEGF-induced angiogenesis and lymphangiogenesis. Nature 465:483–486. https://doi.org/10.1038/nature09002

CAS  Article  PubMed  Google Scholar 

Wang J, Niu N, Xu S, Jin ZG (2019) A simple protocol for isolating mouse lung endothelial cells. Sci Rep 9:1458. https://doi.org/10.1038/s41598-018-37130-4

CAS  Article  PubMed  PubMed Central  Google Scholar