Jacobs AH, Walton RG (1976) The incidence of birthmarks in the neonate. Pediatrics 58:218–222

Article  CAS  PubMed  Google Scholar 

Gupta A, Kozakewich H (2011) Histopathology of vascular anomalies. Clin Plast Surg 38:31–44

Article  PubMed  Google Scholar 

Tan W, Wang J, Zhou F, Gao L, Yin R, Liu H, Sukanthanag A, Wang G, Mihm MC Jr., Chen DB et al (2017) Coexistence of Eph receptor B1 and Ephrin B2 in port-wine stain endothelial progenitor cells contributes to clinicopathological vasculature dilatation. Br J Dermatol 177:1601–1611

Article  CAS  PubMed  PubMed Central  Google Scholar 

Greene AK, Taber SF, Ball KL, Padwa BL, Mulliken JB (2009) Sturge-Weber syndrome: soft-tissue and skeletal overgrowth. J Craniofac Surg 20(Suppl 1):617–621

Article  PubMed  Google Scholar 

Desai S, Glasier C (2017) Sturge-Weber syndrome. N Engl J Med 377:e11

Article  PubMed  Google Scholar 

Dutkiewicz AS, Ezzedine K, Mazereeuw-Hautier J, Lacour JP, Barbarot S, Vabres P, Miquel J, Balguerie X, Martin L, Boralevi F et al (2015) A prospective study of risk for Sturge-Weber syndrome in children with upper facial port-wine stain. J Am Acad Dermatol 72:473–480

Article  PubMed  Google Scholar 

Huikeshoven M, Koster PH, de Borgie CA, Beek JF, van Gemert MJ, van der Horst CM (2007) Redarkening of port-wine stains 10 years after pulsed-dye-laser treatment. N Engl J Med 356:1235–1240

Article  CAS  PubMed  Google Scholar 

Hammill AM, Boscolo E (2024) Capillary malformations. J Clin Invest 134

Shirley MD, Tang H, Gallione CJ, Baugher JD, Frelin LP, Cohen B, North PE, Marchuk DA, Comi AM, Pevsner J (2013) Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. N Engl J Med 368:1971–1979

Article  CAS  PubMed  PubMed Central  Google Scholar 

Couto JA, Huang L, Vivero MP, Kamitaki N, Maclellan RA, Mulliken JB, Bischoff J, Warman ML, Greene AK (2016) Endothelial cells from capillary malformations are enriched for somatic GNAQ mutations. Plast Reconstr Surg 137:77e–82e

Article  CAS  PubMed  PubMed Central  Google Scholar 

Couto JA, Ayturk UM, Konczyk DJ, Goss JA, Huang AY, Hann S, Reeve JL, Liang MG, Bischoff J, Warman ML et al (2017) A somatic GNA11 mutation is associated with extremity capillary malformation and overgrowth. Angiogenesis 20:303–306

Article  CAS  PubMed  PubMed Central  Google Scholar 

Dompmartin A, van der Vleuten CJM, Dekeuleneer V, Duprez T, Revencu N, Desir J, Te Loo D, Flucke U, Eijkelenboom A, Kool S, L., et al (2022) GNA11-mutated Sturge-Weber syndrome has distinct neurological and dermatological features. Eur J Neurol 29:3061–3070

Article  PubMed  Google Scholar 

Huang L, Couto JA, Pinto A, Alexandrescu S, Madsen JR, Greene AK, Sahin M, Bischoff J (2017) Somatic GNAQ mutation is enriched in brain endothelial cells in Sturge-Weber syndrome. Pediatr Neurol 67:59–63

Article  PubMed  Google Scholar 

Bichsel CA, Goss J, Alomari M, Alexandrescu S, Robb R, Smith LE, Hochman M, Greene A, Bischoff J (2019) Association of somatic GNAQ mutation with capillary malformations in a case of choroidal hemangioma. JAMA Ophthalmol 137:91–95

Article  PubMed  Google Scholar 

Goddard LM, Iruela-Arispe ML (2013) Cellular and molecular regulation of vascular permeability. Thromb Haemost 109:407–415

Article  CAS  PubMed  PubMed Central  Google Scholar 

Sandoval YH, Atef ME, Levesque LO, Li Y, Anand-Srivastava MB (2014) Endothelin-1 signaling in vascular physiology and pathophysiology. Curr Vasc Pharmacol 12:202–214

Article  CAS  PubMed  Google Scholar 

Barki-Harrington L, Luttrell LM, Rockman HA (2003) Dual Inhibition of beta-adrenergic and angiotensin II receptors by a single antagonist: a functional role for receptor-receptor interaction in vivo. Circulation 108:1611–1618

Article  CAS  PubMed  Google Scholar 

Martins L, Giovani PA, Reboucas PD, Brasil DM, Haiter Neto F, Coletta RD, Machado RA, Puppin-Rontani RM, Nociti FH Jr., Kantovitz KR (2017) Computational analysis for GNAQ mutations: new insights on the molecular etiology of Sturge-Weber syndrome. J Mol Graph Model 76:429–440

Article  CAS  PubMed  Google Scholar 

Litosch I (2016) Decoding Galphaq signaling. Life Sci 152:99–106

Article  CAS  PubMed  Google Scholar 

Wellman RJ, Cho SB, Singh P, Tune M, Pardo CA, Comi AM, Workgroup B, S.-W.s.P (2019) Galphaq and hyper-phosphorylated ERK expression in Sturge-Weber syndrome leptomeningeal blood vessel endothelial cells. Vasc Med 24:72–75

Article  CAS  PubMed  Google Scholar 

Huang L, Bichsel C, Norris AL, Thorpe J, Pevsner J, Alexandrescu S, Pinto A, Zurakowski D, Kleiman RJ, Sahin M et al (2022) Endothelial GNAQ p.R183Q increases ANGPT2 (Angiopoietin-2) and drives formation of enlarged blood vessels. Arterioscler Thromb Vasc Biol 42:e27–e43

Article  CAS  PubMed  Google Scholar 

Schrenk S, Bischoff LJ, Goines J, Cai Y, Vemaraju S, Odaka Y, Good SR, Palumbo JS, Szabo S, Reynaud D et al (2023) MEK inhibition reduced vascular tumor growth and coagulopathy in a mouse model with hyperactive GNAQ. Nat Commun 14:1929

Article  CAS  PubMed  PubMed Central  Google Scholar 

Wetzel-Strong SE, Galeffi F, Benavides C, Patrucco M, Bullock JL, Gallione CJ, Lee HK, Marchuk DA (2023) Developmental expression of the Sturge-Weber syndrome-associated genetic mutation in Gnaq: a formal test of Happle’s paradominant inheritance hypothesis. Genetics 224

Solomon CM, Singh M, Nemeth P, Comi C (2024) A. R183Q GNAQ Sturge–Weber syndrome leptomeningeal and cerebrovascular developmental mouse model. J Vasc Anom 5

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

Article  CAS  PubMed  Google Scholar 

Huang JL, Urtatiz O, Van Raamsdonk CD (2015) Oncogenic G protein GNAQ induces uveal melanoma and intravasation in mice. Cancer Res 75:3384–3397

Article  CAS  PubMed  Google Scholar 

Nasim S, Bichsel C, Pinto A, Alexandrescu S, Kozakewich H, Bischoff J (2024) Similarities and differences between brain and skin GNAQ p.R183Q driven capillary malformations. Angiogenesis 27:931–941

Article  CAS  PubMed  Google Scholar 

Witjas FMR, van den Berg BM, van den Berg CW, Engelse MA, Rabelink TJ (2019) Concise review: the endothelial cell extracellular matrix regulates tissue homeostasis and repair. Stem Cells Transl Med 8:375–382

Article  PubMed  Google Scholar 

Rauff A, LaBelle SA, Strobel HA, Hoying JB, Weiss JA (2019) Imaging the dynamic interaction between sprouting microvessels and the extracellular matrix. Front Physiol 10:1011

Article  PubMed  PubMed Central  Google Scholar 

Payne LB, Zhao H, James CC, Darden J, McGuire D, Taylor S, Smyth JW, Chappell JC (2019) The pericyte microenvironment during vascular development. Microcirculation 26:e12554

Article  PubMed  PubMed Central  Google Scholar 

Nasim S, Bichsel C, Dayneka S, Mannix R, Holm A, Vivero M, Alexandrescu S, Pinto A, Greene AK, Ingber DE et al (2024) MRC1 and LYVE1 expressing macrophages in vascular beds of GNAQ p.R183Q driven capillary malformations in Sturge Weber syndrome. Acta Neuropathol Commun 12:47

Article  CAS  PubMed  PubMed Central  Google Scholar 

Smits PJ, Sudduth CL, Konczyk DJ, Cheng YS, Vivero MP, Kozakewich HPW, Warman ML, Greene AK (2023) Endothelial cell expression of mutant Map2k1 causes vascular malformations in mice. Angiogenesis 26:97–105

Article  CAS  PubMed  Google Scholar 

Sundaram SK, Michelhaugh SK, Klinger NV, Kupsky WJ, Sood S, Chugani HT, Mittal S, Juhasz C (2017) GNAQ mutation in the venous vascular malformation and underlying brain tissue in sturge-weber syndrome. Neuropediatrics 48:385–389

Article