{"id":"https://openalex.org/W4394964937","doi":"https://doi.org/10.1097/01.gox.0001015408.90202.c1","title":"79. Arteriovenous Malformation MAP2K1-mutant Endothelial Cells Exhibit Dysregulated Vasculogenesis In-vitro And In-vivo","display_name":"79. Arteriovenous Malformation MAP2K1-mutant Endothelial Cells Exhibit Dysregulated Vasculogenesis In-vitro And In-vivo","publication_year":2024,"publication_date":"2024-04-01","ids":{"openalex":"https://openalex.org/W4394964937","doi":"https://doi.org/10.1097/01.gox.0001015408.90202.c1"},"language":"en","primary_location":{"id":"doi:10.1097/01.gox.0001015408.90202.c1","doi":"https://doi.org/10.1097/01.gox.0001015408.90202.c1","is_oa":true,"landing_page_url":"http://dx.doi.org/10.1097/01.gox.0001015408.90202.c1","pdf_url":null,"source":{"id":"https://openalex.org/S2754281505","display_name":"Plastic & Reconstructive Surgery Global Open","issn_l":"2169-7574","issn":["2169-7574"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-d","jufo-1","ki-jl-1","norway-1","oarl","poland-70","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310318547","host_organization_name":"Wolters Kluwer","host_organization_lineage":["https://openalex.org/P4310318547"],"host_organization_lineage_names":["Wolters Kluwer"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Plastic and Reconstructive Surgery - Global Open","raw_type":"journal-article"},"volume":null,"type":"conference-abstract","is_traditional":false,"indexed_in":["crossref","doaj"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"http://dx.doi.org/10.1097/01.gox.0001015408.90202.c1","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5112506688","display_name":"Matthew P. Vivero","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1288882113","display_name":"Boston Children's Hospital","ror":"https://ror.org/00dvg7y05","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1288882113"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Matthew P. Vivero","raw_affiliation_strings":["Boston Children\u2019s Hospital, Boston, MA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Boston Children\u2019s Hospital, Boston, MA, USA","institution_ids":["https://openalex.org/I1288882113"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080188159","display_name":"Yu Sheng Cheng","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1288882113","display_name":"Boston Children's Hospital","ror":"https://ror.org/00dvg7y05","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1288882113"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Yu Sheng Cheng","raw_affiliation_strings":["Boston Children\u2019s Hospital, Boston, MA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Boston Children\u2019s Hospital, Boston, MA, USA","institution_ids":["https://openalex.org/I1288882113"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5095781545","display_name":"Leanna Marrs","orcid":"https://orcid.org/0009-0001-8791-5136","observed_orcids":["https://orcid.org/0009-0001-8791-5136"]},"institutions":[{"id":"https://openalex.org/I1288882113","display_name":"Boston Children's Hospital","ror":"https://ror.org/00dvg7y05","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1288882113"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Leanna Marrs","raw_affiliation_strings":["Boston Children\u2019s Hospital, Boston, MA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Boston Children\u2019s Hospital, Boston, MA, USA","institution_ids":["https://openalex.org/I1288882113"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5017471406","display_name":"Michal Ad","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1288882113","display_name":"Boston Children's Hospital","ror":"https://ror.org/00dvg7y05","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1288882113"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Michal Ad","raw_affiliation_strings":["Boston Children\u2019s Hospital, Boston, MA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Boston Children\u2019s Hospital, Boston, MA, USA","institution_ids":["https://openalex.org/I1288882113"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005955368","display_name":"Patrick J. Smits","orcid":"https://orcid.org/0000-0002-4552-6730","observed_orcids":["https://orcid.org/0000-0002-4552-6730"]},"institutions":[{"id":"https://openalex.org/I1288882113","display_name":"Boston Children's Hospital","ror":"https://ror.org/00dvg7y05","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1288882113"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Patrick Smits","raw_affiliation_strings":["Boston Children\u2019s Hospital, Boston, MA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Boston Children\u2019s Hospital, Boston, MA, USA","institution_ids":["https://openalex.org/I1288882113"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5054511395","display_name":"Matthew L. Warman","orcid":"https://orcid.org/0000-0003-2020-3449","observed_orcids":["https://orcid.org/0000-0003-2020-3449"]},"institutions":[{"id":"https://openalex.org/I1288882113","display_name":"Boston Children's Hospital","ror":"https://ror.org/00dvg7y05","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1288882113"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Matthew Warman","raw_affiliation_strings":["Boston Children\u2019s Hospital, Boston, MA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Boston Children\u2019s Hospital, Boston, MA, USA","institution_ids":["https://openalex.org/I1288882113"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5050006243","display_name":"Arin K. Greene","orcid":"https://orcid.org/0000-0003-0722-8641","observed_orcids":["https://orcid.org/0000-0003-0722-8641"]},"institutions":[{"id":"https://openalex.org/I1288882113","display_name":"Boston Children's Hospital","ror":"https://ror.org/00dvg7y05","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1288882113"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Arin K. Greene","raw_affiliation_strings":["Boston Children\u2019s Hospital, Boston, MA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Boston Children\u2019s Hospital, Boston, MA, USA","institution_ids":["https://openalex.org/I1288882113"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5112506688"],"corresponding_institution_ids":["https://openalex.org/I1288882113"],"apc_list":{"value":2195,"currency":"USD","value_usd":2195},"apc_paid":{"value":2195,"currency":"USD","value_usd":2195},"fwci":null,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":"12","issue":"S4","first_page":"53","last_page":"53"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10980","display_name":"Vascular Malformations and Hemangiomas","score":0.9272000193595886,"subfield":{"id":"https://openalex.org/subfields/2746","display_name":"Surgery"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10980","display_name":"Vascular Malformations and Hemangiomas","score":0.9272000193595886,"subfield":{"id":"https://openalex.org/subfields/2746","display_name":"Surgery"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10422","display_name":"Angiogenesis and VEGF in Cancer","score":0.03269999846816063,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11402","display_name":"Vascular Malformations Diagnosis and Treatment","score":0.025499999523162842,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/arteriovenous-malformation","display_name":"arteriovenous malformation","score":0.9990000128746033},{"id":"https://openalex.org/keywords/map2k1-mutation","display_name":"MAP2K1 mutation","score":0.949999988079071},{"id":"https://openalex.org/keywords/endothelial-cells","display_name":"endothelial cells","score":0.6669999957084656},{"id":"https://openalex.org/keywords/erk1-2-phosphorylation","display_name":"ERK1/2 phosphorylation","score":0.9649999737739563},{"id":"https://openalex.org/keywords/angiopoietin-2","display_name":"angiopoietin-2","score":0.8980000019073486},{"id":"https://openalex.org/keywords/vasculogenesis","display_name":"vasculogenesis","score":0.968999981880188},{"id":"https://openalex.org/keywords/mek-inhibitors","display_name":"MEK inhibitors","score":0.7990000247955322},{"id":"https://openalex.org/keywords/crispr-cas9-genome-editing","display_name":"CRISPR/Cas9 genome editing","score":0.75},{"id":"https://openalex.org/keywords/drug-therapy","display_name":"pharmacotherapy","score":0.4300000071525574}],"concepts":[{"id":"https://openalex.org/C60781801","wikidata":"https://www.wikidata.org/wiki/Q1424593","display_name":"Vasculogenesis","level":4,"score":0.8996930718421936},{"id":"https://openalex.org/C207001950","wikidata":"https://www.wikidata.org/wiki/Q141124","display_name":"In vivo","level":2,"score":0.8021600246429443},{"id":"https://openalex.org/C202751555","wikidata":"https://www.wikidata.org/wiki/Q221681","display_name":"In vitro","level":2,"score":0.6844902038574219},{"id":"https://openalex.org/C2779603958","wikidata":"https://www.wikidata.org/wiki/Q1584110","display_name":"Arteriovenous malformation","level":2,"score":0.6378391981124878},{"id":"https://openalex.org/C143065580","wikidata":"https://www.wikidata.org/wiki/Q3285695","display_name":"Mutant","level":3,"score":0.6151492595672607},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.5073387026786804},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.354638010263443},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.3478996753692627},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3429320454597473},{"id":"https://openalex.org/C123012128","wikidata":"https://www.wikidata.org/wiki/Q5376430","display_name":"Endothelial stem cell","level":3,"score":0.27187955379486084},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.2608821988105774},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.18541193008422852},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.10467618703842163},{"id":"https://openalex.org/C141071460","wikidata":"https://www.wikidata.org/wiki/Q40821","display_name":"Surgery","level":1,"score":0.10000282526016235}],"mesh":[],"locations_count":3,"locations":[{"id":"doi:10.1097/01.gox.0001015408.90202.c1","doi":"https://doi.org/10.1097/01.gox.0001015408.90202.c1","is_oa":true,"landing_page_url":"http://dx.doi.org/10.1097/01.gox.0001015408.90202.c1","pdf_url":null,"source":{"id":"https://openalex.org/S2754281505","display_name":"Plastic & Reconstructive Surgery Global Open","issn_l":"2169-7574","issn":["2169-7574"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-d","jufo-1","ki-jl-1","norway-1","oarl","poland-70","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310318547","host_organization_name":"Wolters Kluwer","host_organization_lineage":["https://openalex.org/P4310318547"],"host_organization_lineage_names":["Wolters Kluwer"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Plastic and Reconstructive Surgery - Global Open","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:11041146","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/11041146","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC11041146/pdf/gox-12-053a.pdf","source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Plast Reconstr Surg Glob Open","raw_type":"Text"},{"id":"pmh:oai:doaj.org/article:d17935f06b0645d4911d3e1b2c214368","doi":null,"is_oa":false,"landing_page_url":"https://doaj.org/article/d17935f06b0645d4911d3e1b2c214368","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Plastic and Reconstructive Surgery, Global Open, Vol 12, Iss S4, Pp 53-53 (2024)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1097/01.gox.0001015408.90202.c1","doi":"https://doi.org/10.1097/01.gox.0001015408.90202.c1","is_oa":true,"landing_page_url":"http://dx.doi.org/10.1097/01.gox.0001015408.90202.c1","pdf_url":null,"source":{"id":"https://openalex.org/S2754281505","display_name":"Plastic & Reconstructive Surgery Global Open","issn_l":"2169-7574","issn":["2169-7574"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-d","jufo-1","ki-jl-1","norway-1","oarl","poland-70","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310318547","host_organization_name":"Wolters Kluwer","host_organization_lineage":["https://openalex.org/P4310318547"],"host_organization_lineage_names":["Wolters Kluwer"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Plastic and Reconstructive Surgery - Global Open","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9763000011444092,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4394964937.pdf","grobid_xml":"https://content.openalex.org/works/W4394964937.grobid-xml"},"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W4396919924","https://openalex.org/W2802090766","https://openalex.org/W4248040351","https://openalex.org/W4383619311","https://openalex.org/W3039828689","https://openalex.org/W2972902123","https://openalex.org/W4292064172","https://openalex.org/W4283395784","https://openalex.org/W4318763604","https://openalex.org/W2587169534"],"abstract_inverted_index":{"Purpose:":[0],"Arteriovenous":[1],"malformation":[2],"(AVM)":[3],"is":[4],"a":[5,25,41,134,169],"fast-flow":[6],"vascular":[7],"anomaly":[8],"characterized":[9],"by":[10],"abnormal":[11,219],"arterial":[12,79],"to":[13,65],"venous":[14],"shunts":[15],"causing":[16],"ischemia,":[17],"ulceration,":[18],"pain,":[19],"and":[20,58,62,87,99,103,112,122,128,137,164,183,191,217,240],"bleeding.":[21],"Extracranial":[22],"AVMs":[23],"contain":[24],"somatic":[26],"mutation":[27,54,74,206],"in":[28,145,200,207],"the":[29,52,71,149,153,189,195,228,242,248],"MAP2K1":[30,43,53,72,154,196,205],"gene.":[31],"The":[32,204],"purpose":[33],"of":[34,84,152,172,194,230,236,244,250],"this":[35],"study":[36],"was":[37,75,92,108,125],"to:":[38],"(1)":[39],"create":[40,60],"stable":[42],"mutant":[44,85,111,146,163,179],"endothelial":[45,80],"cell":[46,166],"(EC)":[47],"line,":[48],"(2)":[49],"determine":[50],"how":[51],"affects":[55],"EC":[56],"behavior,":[57],"(3)":[59],"in-vitro":[61],"in-vivo":[63,129],"models":[64,130,224],"test":[66],"pharmacotherapy.":[67],"Methods:":[68],"Utilizing":[69],"CRISPR-Cas9":[70],"p.K57N":[73],"introduced":[76],"into":[77,119,227],"immortalized":[78,208],"cells":[81],"(teloHAECs).":[82],"Expression":[83],"transcript":[86],"elevated":[88],"phosphorylated":[89],"ERK":[90],"(P-ERK)":[91],"tested":[93],"using":[94],"digital":[95],"droplet":[96],"PCR":[97],"(ddPCR)":[98],"Western":[100],"Blot.":[101],"Bulk-RNAseq":[102,156],"differential":[104],"gene":[105,160,215],"expression":[106,161],"analysis":[107,141],"conducted":[109],"comparing":[110],"control":[113,165],"cells.":[114],"Gene-edited":[115],"lines":[116],"were":[117,131],"injected":[118],"immunodeficient":[120],"mice":[121],"implant":[123],"phenotype":[124],"characterized.":[126],"In-vitro":[127],"treated":[132],"with":[133,178],"MEK":[135,186,245],"inhibitor":[136],"assessed.":[138],"Results:":[139],"Protein":[140],"showed":[142,157],"increased":[143,158],"P-ERK":[144],"cells,":[147],"confirming":[148],"activating":[150],"effects":[151,193],"mutation.":[155],"vasculogenic":[159,214],"between":[162],"lines,":[167],"including":[168,198],"key":[170],"regulator":[171],"vessel":[173],"formation":[174],"angiopoietin-2.":[175],"Murine":[176],"implants":[177],"ECs":[180,209],"displayed":[181],"malformed":[182],"dilated":[184],"vasculature.":[185],"inhibition":[187],"prevented":[188],"transcriptomic":[190],"histologic":[192],"mutation,":[197],"reduction":[199],"angiopoietin-2":[201],"production.":[202],"Conclusion:":[203],"activates":[210],"RAS/MEK":[211],"signaling,":[212],"stimulates":[213],"expression,":[216],"forms":[218],"vascularized":[220],"lesions":[221],"in-vivo.":[222],"These":[223],"provide":[225],"insight":[226],"pathophysiology":[229],"human":[231],"AVM,":[232],"enable":[233],"preclinical":[234],"testing":[235],"novel":[237],"drug":[238],"therapies,":[239],"support":[241],"efficacy":[243],"inhibitors":[246],"for":[247],"treatment":[249],"AVM.":[251]},"counts_by_year":[],"updated_date":"2026-11-06T12:05:46.655746","created_date":"2024-04-20T00:00:00"}
