{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,4]],"date-time":"2026-11-04T20:39:07Z","timestamp":1793824747678,"version":"4.6.1"},"reference-count":30,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2022,5,30]],"date-time":"2022-05-30T00:00:00Z","timestamp":1653868800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2022,5,30]],"date-time":"2022-05-30T00:00:00Z","timestamp":1653868800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["U54NS065705"],"award-info":[{"award-number":["U54NS065705"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Angiogenesis"],"published-print":{"date-parts":[[2022,11]]},"DOI":"10.1007\/s10456-022-09841-w","type":"journal-article","created":{"date-parts":[[2022,5,30]],"date-time":"2022-05-30T02:02:32Z","timestamp":1653876152000},"page":"493-502","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":39,"title":["A novel somatic mutation in GNAQ in a capillary malformation provides insight into molecular pathogenesis"],"prefix":"10.1007","volume":"25","author":[{"given":"F.","family":"Galeffi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D. A.","family":"Snellings","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S. E.","family":"Wetzel-Strong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Kastelic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Bullock","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C. J.","family":"Gallione","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P. E.","family":"North","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3110-6671","authenticated-orcid":false,"given":"D. A.","family":"Marchuk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,5,30]]},"reference":[{"issue":"9","key":"9841_CR1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMicm1700538","volume":"377","author":"S Desai","year":"2017","unstructured":"Desai S, Glasier C (2017) Sturge-weber syndrome. N Engl J Med 377(9):e11. https:\/\/doi.org\/10.1056\/NEJMicm1700538","journal-title":"N Engl J Med"},{"issue":"5","key":"9841_CR2","doi-asserted-by":"publisher","first-page":"607","DOI":"10.1007\/s11940-013-0253-6","volume":"15","author":"CD Bachur","year":"2013","unstructured":"Bachur CD, Comi AM (2013) Sturge-weber syndrome. Curr Treat Options Neurol 15(5):607\u2013617. https:\/\/doi.org\/10.1007\/s11940-013-0253-6","journal-title":"Curr Treat Options Neurol"},{"issue":"1","key":"9841_CR3","doi-asserted-by":"publisher","first-page":"77e","DOI":"10.1097\/PRS.0000000000001868","volume":"137","author":"JA Couto","year":"2016","unstructured":"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(1):77e\u201382e. https:\/\/doi.org\/10.1097\/PRS.0000000000001868","journal-title":"Plast Reconstr Surg"},{"issue":"1","key":"9841_CR4","doi-asserted-by":"publisher","first-page":"98","DOI":"10.1001\/jamadermatol.2020.4226","volume":"157","author":"S Sabeti","year":"2021","unstructured":"Sabeti S, Ball KL, Burkhart C, Eichenfield L, Fernandez Faith E, Frieden IJ, Geronemus R, Gupta D, Krakowski AC, Levy ML, Metry D, Nelson JS, Tollefson MM, Kelly KM (2021) Consensus statement for the management and treatment of port-wine birthmarks in sturge-weber syndrome. JAMA Dermatol 157(1):98\u2013104. https:\/\/doi.org\/10.1001\/jamadermatol.2020.4226","journal-title":"JAMA Dermatol"},{"key":"9841_CR5","doi-asserted-by":"publisher","first-page":"59","DOI":"10.1016\/j.pediatrneurol.2016.10.010","volume":"67","author":"L Huang","year":"2017","unstructured":"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\u201363. https:\/\/doi.org\/10.1016\/j.pediatrneurol.2016.10.010","journal-title":"Pediatr Neurol"},{"issue":"4","key":"9841_CR6","doi-asserted-by":"publisher","first-page":"899","DOI":"10.1016\/S0190-9622(87)80249-9","volume":"16","author":"R Happle","year":"1987","unstructured":"Happle R (1987) Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin. J Am Acad Dermatol 16(4):899\u2013906","journal-title":"J Am Acad Dermatol"},{"issue":"3","key":"9841_CR7","doi-asserted-by":"publisher","first-page":"728","DOI":"10.1124\/pr.110.003038","volume":"63","author":"AJ Kimple","year":"2011","unstructured":"Kimple AJ, Bosch DE, Giguere PM, Siderovski DP (2011) Regulators of G-protein signaling and their Galpha substrates: promises and challenges in their use as drug discovery targets. Pharmacol Rev 63(3):728\u2013749. https:\/\/doi.org\/10.1124\/pr.110.003038","journal-title":"Pharmacol Rev"},{"issue":"21","key":"9841_CR8","doi-asserted-by":"publisher","first-page":"1971","DOI":"10.1056\/NEJMoa1213507","volume":"368","author":"MD Shirley","year":"2013","unstructured":"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(21):1971\u20131979. https:\/\/doi.org\/10.1056\/NEJMoa1213507","journal-title":"N Engl J Med"},{"issue":"12","key":"9841_CR9","doi-asserted-by":"publisher","first-page":"691","DOI":"10.1038\/jhg.2014.95","volume":"59","author":"M Nakashima","year":"2014","unstructured":"Nakashima M, Miyajima M, Sugano H, Iimura Y, Kato M, Tsurusaki Y, Miyake N, Saitsu H, Arai H, Matsumoto N (2014) The somatic GNAQ mutation c.548G>A (pR183Q) is consistently found in Sturge-Weber syndrome. J Hum Genet 59(12):691\u2013693. https:\/\/doi.org\/10.1038\/jhg.2014.95","journal-title":"J Hum Genet"},{"key":"9841_CR10","doi-asserted-by":"publisher","DOI":"10.1136\/bjophthalmol-2020-317287","author":"Y Wu","year":"2021","unstructured":"Wu Y, Peng C, Huang L, Xu L, Ding X, Liu Y, Zeng C, Sun H, Guo W (2021) Somatic GNAQ R183Q mutation is located within the sclera and episclera in patients with Sturge-Weber syndrome. Br J Ophthalmol. https:\/\/doi.org\/10.1136\/bjophthalmol-2020-317287","journal-title":"Br J Ophthalmol"},{"issue":"5","key":"9841_CR11","doi-asserted-by":"publisher","first-page":"385","DOI":"10.1055\/s-0037-1603515","volume":"48","author":"SK Sundaram","year":"2017","unstructured":"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(5):385\u2013389. https:\/\/doi.org\/10.1055\/s-0037-1603515","journal-title":"Neuropediatrics"},{"issue":"21","key":"9841_CR12","doi-asserted-by":"publisher","first-page":"1919","DOI":"10.1093\/hmg\/ddab144","volume":"30","author":"R Fjaer","year":"2021","unstructured":"Fjaer R, Marciniak K, Sundnes O, Hjorthaug H, Sheng Y, Hammarstrom C, Sitek JC, Vigeland MD, Backe PH, Oye AM, Fosse JH, Stav-Noraas TE, Uchiyama Y, Matsumoto N, Comi A, Pevsner J, Haraldsen G, Selmer KK (2021) A novel somatic mutation in GNB2 provides new insights to the pathogenesis of Sturge-Weber syndrome. Hum Mol Genet 30(21):1919\u20131931. https:\/\/doi.org\/10.1093\/hmg\/ddab144","journal-title":"Hum Mol Genet"},{"issue":"5","key":"9841_CR13","doi-asserted-by":"publisher","first-page":"1110","DOI":"10.1016\/j.jid.2019.10.019","volume":"140","author":"S Polubothu","year":"2020","unstructured":"Polubothu S, Al-Olabi L, Carmen Del Boente M, Chacko A, Eleftheriou G, Glover M, Jimenez-Gallo D, Jones EA, Lomas D, Folster-Holst R, Syed S, Tasani M, Thomas A, Tisdall M, Torrelo A, Aylett S, Kinsler VA (2020) GNA11 mutation as a cause of sturge-weber syndrome: expansion of the phenotypic spectrum of Galpha\/11 mosaicism and the associated clinical diagnoses. J Invest Dermatol 140(5):1110\u20131113. https:\/\/doi.org\/10.1016\/j.jid.2019.10.019","journal-title":"J Invest Dermatol"},{"issue":"46","key":"9841_CR14","doi-asserted-by":"publisher","first-page":"47438","DOI":"10.1074\/jbc.M408846200","volume":"279","author":"J Takasaki","year":"2004","unstructured":"Takasaki J, Saito T, Taniguchi M, Kawasaki T, Moritani Y, Hayashi K, Kobori M (2004) A novel Galphaq\/11-selective inhibitor. J Biol Chem 279(46):47438\u201347445. https:\/\/doi.org\/10.1074\/jbc.M408846200","journal-title":"J Biol Chem"},{"issue":"3","key":"9841_CR15","doi-asserted-by":"publisher","first-page":"276","DOI":"10.1038\/s41587-020-0439-x","volume":"38","author":"PA Ewels","year":"2020","unstructured":"Ewels PA, Peltzer A, Fillinger S, Patel H, Alneberg J, Wilm A, Garcia MU, Di Tommaso P, Nahnsen S (2020) The nf-core framework for community-curated bioinformatics pipelines. Nat Biotechnol 38(3):276\u2013278. https:\/\/doi.org\/10.1038\/s41587-020-0439-x","journal-title":"Nat Biotechnol"},{"issue":"12","key":"9841_CR16","doi-asserted-by":"publisher","first-page":"550","DOI":"10.1186\/s13059-014-0550-8","volume":"15","author":"MI Love","year":"2014","unstructured":"Love MI, Huber W, Anders S (2014) Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2. Genome Biol 15(12):550. https:\/\/doi.org\/10.1186\/s13059-014-0550-8","journal-title":"Genome Biol"},{"issue":"8","key":"9841_CR17","doi-asserted-by":"publisher","first-page":"2628","DOI":"10.1093\/bioinformatics\/btz931","volume":"36","author":"SX Ge","year":"2020","unstructured":"Ge SX, Jung D, Yao R (2020) ShinyGO: a graphical gene-set enrichment tool for animals and plants. Bioinformatics 36(8):2628\u20132629. https:\/\/doi.org\/10.1093\/bioinformatics\/btz931","journal-title":"Bioinformatics"},{"issue":"2","key":"9841_CR18","doi-asserted-by":"publisher","first-page":"355","DOI":"10.1038\/sj.bjc.6601894","volume":"91","author":"S Bamford","year":"2004","unstructured":"Bamford S, Dawson E, Forbes S, Clements J, Pettett R, Dogan A, Flanagan A, Teague J, Futreal PA, Stratton MR, Wooster R (2004) The COSMIC (Catalogue of Somatic Mutations in Cancer) database and website. Br J Cancer 91(2):355\u2013358. https:\/\/doi.org\/10.1038\/sj.bjc.6601894","journal-title":"Br J Cancer"},{"issue":"5","key":"9841_CR19","doi-asserted-by":"publisher","first-page":"1087","DOI":"10.1006\/bbrc.2001.5891","volume":"288","author":"J Yamauchi","year":"2001","unstructured":"Yamauchi J, Itoh H, Shinoura H, Miyamoto Y, Tsumaya K, Hirasawa A, Kaziro Y, Tsujimoto G (2001) Galphaq-dependent activation of mitogen-activated protein kinase kinase 4\/c-Jun N-terminal kinase cascade. Biochem Biophys Res Commun 288(5):1087\u20131094. https:\/\/doi.org\/10.1006\/bbrc.2001.5891","journal-title":"Biochem Biophys Res Commun"},{"issue":"4","key":"9841_CR20","doi-asserted-by":"publisher","first-page":"770","DOI":"10.1016\/j.jid.2015.11.027","volume":"136","author":"AC Thomas","year":"2016","unstructured":"Thomas AC, Zeng Z, Riviere JB, O\u2019Shaughnessy R, Al-Olabi L, St-Onge J, Atherton DJ, Aubert H, Bagazgoitia L, Barbarot S, Bourrat E, Chiaverini C, Chong WK, Duffourd Y, Glover M, Groesser L, Hadj-Rabia S, Hamm H, Happle R, Mushtaq I, Lacour JP, Waelchli R, Wobser M, Vabres P, Patton EE, Kinsler VA (2016) Mosaic activating mutations in GNA11 and GNAQ are associated with phakomatosis pigmentovascularis and extensive dermal melanocytosis. J Invest Dermatol 136(4):770\u2013778. https:\/\/doi.org\/10.1016\/j.jid.2015.11.027","journal-title":"J Invest Dermatol"},{"issue":"1","key":"9841_CR21","doi-asserted-by":"publisher","first-page":"168","DOI":"10.1016\/j.bbrc.2011.10.047","volume":"415","author":"R Nagae","year":"2011","unstructured":"Nagae R, Sato K, Yasui Y, Banno Y, Nagase T, Ueda H (2011) Gs and Gq signalings regulate hPEM-2-induced cell responses in Neuro-2a cells. Biochem Biophys Res Commun 415(1):168\u2013173. https:\/\/doi.org\/10.1016\/j.bbrc.2011.10.047","journal-title":"Biochem Biophys Res Commun"},{"issue":"51","key":"9841_CR22","doi-asserted-by":"publisher","first-page":"19586","DOI":"10.1074\/jbc.RA118.005291","volume":"293","author":"M Maziarz","year":"2018","unstructured":"Maziarz M, Leyme A, Marivin A, Luebbers A, Patel PP, Chen Z, Sprang SR, Garcia-Marcos M (2018) Atypical activation of the G protein G\u03b1(q) by the oncogenic mutation Q209P. J Biol Chem 293(51):19586\u201319599. https:\/\/doi.org\/10.1074\/jbc.RA118.005291","journal-title":"J Biol Chem"},{"issue":"1","key":"9841_CR23","doi-asserted-by":"publisher","first-page":"363","DOI":"10.1016\/j.bbrc.2005.03.174","volume":"331","author":"A Matsuo","year":"2005","unstructured":"Matsuo A, Matsumoto S, Nagano M, Masumoto KH, Takasaki J, Matsumoto M, Kobori M, Katoh M, Shigeyoshi Y (2005) Molecular cloning and characterization of a novel Gq-coupled orphan receptor GPRg1 exclusively expressed in the central nervous system. Biochem Biophys Res Commun 331(1):363\u2013369. https:\/\/doi.org\/10.1016\/j.bbrc.2005.03.174","journal-title":"Biochem Biophys Res Commun"},{"issue":"1","key":"9841_CR24","doi-asserted-by":"publisher","first-page":"e27","DOI":"10.1161\/ATVBAHA.121.316651","volume":"42","author":"L Huang","year":"2022","unstructured":"Huang L, Bichsel C, Norris AL, Thorpe J, Pevsner J, Alexandrescu S, Pinto A, Zurakowski D, Kleiman RJ, Sahin M, Greene AK, Bischoff J (2022) Endothelial GNAQ pR183Q increases ANGPT2 (Angiopoietin-2) and drives formation of enlarged blood vessels. Arterioscler Thromb Vasc Biol 42(1):e27\u2013e43. https:\/\/doi.org\/10.1161\/ATVBAHA.121.316651","journal-title":"Arterioscler Thromb Vasc Biol"},{"issue":"1","key":"9841_CR25","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1001\/jamaophthalmol.2018.5141","volume":"137","author":"CA Bichsel","year":"2019","unstructured":"Bichsel CA, Goss J, Alomari M, Alexandrescu S, Robb R, Smith LE, Hochman M, Greene AK, Bischoff J (2019) Association of somatic GNAQ mutation with capillary malformations in a case of choroidal hemangioma. JAMA Ophthalmol 137(1):91\u201395. https:\/\/doi.org\/10.1001\/jamaophthalmol.2018.5141","journal-title":"JAMA Ophthalmol"},{"key":"9841_CR26","doi-asserted-by":"publisher","first-page":"429","DOI":"10.1016\/j.jmgm.2017.07.011","volume":"76","author":"L Martins","year":"2017","unstructured":"Martins L, Giovani PA, Rebou\u00e7as 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\u2013440. https:\/\/doi.org\/10.1016\/j.jmgm.2017.07.011","journal-title":"J Mol Graph Model"},{"key":"9841_CR27","doi-asserted-by":"publisher","first-page":"99","DOI":"10.1016\/j.lfs.2016.03.037","volume":"152","author":"I Litosch","year":"2016","unstructured":"Litosch I (2016) Decoding Galphaq signaling. Life Sci 152:99\u2013106. https:\/\/doi.org\/10.1016\/j.lfs.2016.03.037","journal-title":"Life Sci"},{"issue":"2","key":"9841_CR28","doi-asserted-by":"publisher","first-page":"211","DOI":"10.1001\/jamadermatol.2018.4231","volume":"155","author":"N Klebanov","year":"2019","unstructured":"Klebanov N, Lin WM, Artomov M, Shaughnessy M, Njauw CN, Bloom R, Eterovic AK, Chen K, Kim TB, Tsao SS, Tsao H (2019) Use of targeted next-generation sequencing to identify activating hot spot mutations in cherry angiomas. JAMA Dermatol 155(2):211\u2013215. https:\/\/doi.org\/10.1001\/jamadermatol.2018.4231","journal-title":"JAMA Dermatol"},{"issue":"5","key":"9841_CR29","doi-asserted-by":"publisher","first-page":"894","DOI":"10.1016\/j.ajhg.2019.09.010","volume":"105","author":"DA Snellings","year":"2019","unstructured":"Snellings DA, Gallione CJ, Clark DS, Vozoris NT, Faughnan ME, Marchuk DA (2019) Somatic mutations in vascular malformations of hereditary hemorrhagic telangiectasia result in Bi-allelic loss of ENG or ACVRL1. Am J Hum Genet 105(5):894\u2013906. https:\/\/doi.org\/10.1016\/j.ajhg.2019.09.010","journal-title":"Am J Hum Genet"},{"issue":"5","key":"9841_CR30","doi-asserted-by":"publisher","first-page":"722","DOI":"10.1038\/modpathol.2016.234","volume":"30","author":"GR Bean","year":"2017","unstructured":"Bean GR, Joseph NM, Gill RM, Folpe AL, Horvai AE, Umetsu SE (2017) Recurrent GNAQ mutations in anastomosing hemangiomas. Mod Pathol 30(5):722\u2013727. https:\/\/doi.org\/10.1038\/modpathol.2016.234","journal-title":"Mod Pathol"}],"container-title":["Angiogenesis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10456-022-09841-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10456-022-09841-w\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10456-022-09841-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,9,28]],"date-time":"2022-09-28T14:15:52Z","timestamp":1664374552000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10456-022-09841-w"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,5,30]]},"references-count":30,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2022,11]]}},"alternative-id":["9841"],"URL":"https:\/\/doi.org\/10.1007\/s10456-022-09841-w","relation":{},"ISSN":["0969-6970","1573-7209"],"issn-type":[{"value":"0969-6970","type":"print"},{"value":"1573-7209","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,5,30]]},"assertion":[{"value":"13 January 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 May 2022","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"30 May 2022","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors have no relevant financial or non-financial interest to disclose.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"ClinVar:\n                      \n                      .COSMIC:\n                      \n                      .","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Websites"}}]}}