{"id":"https://openalex.org/W4396919924","doi":"https://doi.org/10.1097/01.gox.0001018388.07743.4f","title":"P30. Arteriovenous Malformation Map2k1-mutant Endothelial Cells Exhibit Dysregulated Vasculogenesis In-vitro and In-vivo","display_name":"P30. Arteriovenous Malformation Map2k1-mutant Endothelial Cells Exhibit Dysregulated Vasculogenesis In-vitro and In-vivo","publication_year":2024,"publication_date":"2024-05-01","ids":{"openalex":"https://openalex.org/W4396919924","doi":"https://doi.org/10.1097/01.gox.0001018388.07743.4f"},"language":"en","primary_location":{"id":"doi:10.1097/01.gox.0001018388.07743.4f","doi":"https://doi.org/10.1097/01.gox.0001018388.07743.4f","is_oa":true,"landing_page_url":"http://dx.doi.org/10.1097/01.gox.0001018388.07743.4f","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.0001018388.07743.4f","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":false,"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":[],"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":"S5","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":0.9419000148773193,"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":0.9419000148773193,"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/T11402","display_name":"Vascular Malformations Diagnosis and Treatment","score":0.026499999687075615,"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"}},{"id":"https://openalex.org/T10422","display_name":"Angiogenesis and VEGF in Cancer","score":0.021299999207258224,"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"}}],"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":0.9459999799728394},{"id":"https://openalex.org/keywords/endothelial-cells","display_name":"endothelial cells","score":0.7689999938011169},{"id":"https://openalex.org/keywords/vasculogenesis","display_name":"vasculogenesis","score":0.7559999823570251},{"id":"https://openalex.org/keywords/erk1-2-phosphorylation","display_name":"ERK1/2 phosphorylation","score":0.8330000042915344},{"id":"https://openalex.org/keywords/angiopoietin-2","display_name":"angiopoietin-2","score":0.9739999771118164},{"id":"https://openalex.org/keywords/mek-inhibitors","display_name":"MEK inhibitors","score":0.8040000200271606},{"id":"https://openalex.org/keywords/vascular-malformations","display_name":"vascular malformations","score":0.3720000088214874},{"id":"https://openalex.org/keywords/somatic-mutations","display_name":"somatic mutations","score":0.5910000205039978},{"id":"https://openalex.org/keywords/crispr-cas9-mutagenesis","display_name":"CRISPR/Cas9 mutagenesis","score":0.6980000138282776},{"id":"https://openalex.org/keywords/gene-expression-profiling","display_name":"gene expression profiling","score":0.5490000247955322}],"concepts":[{"id":"https://openalex.org/C60781801","wikidata":"https://www.wikidata.org/wiki/Q1424593","display_name":"Vasculogenesis","level":4,"score":0.8848825693130493},{"id":"https://openalex.org/C207001950","wikidata":"https://www.wikidata.org/wiki/Q141124","display_name":"In vivo","level":2,"score":0.7817577123641968},{"id":"https://openalex.org/C202751555","wikidata":"https://www.wikidata.org/wiki/Q221681","display_name":"In vitro","level":2,"score":0.6515889167785645},{"id":"https://openalex.org/C143065580","wikidata":"https://www.wikidata.org/wiki/Q3285695","display_name":"Mutant","level":3,"score":0.6448635458946228},{"id":"https://openalex.org/C2779603958","wikidata":"https://www.wikidata.org/wiki/Q1584110","display_name":"Arteriovenous malformation","level":2,"score":0.6186596155166626},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.46029743552207947},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.35023385286331177},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.349608838558197},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.3492467999458313},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.29132452607154846},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.20186638832092285},{"id":"https://openalex.org/C123012128","wikidata":"https://www.wikidata.org/wiki/Q5376430","display_name":"Endothelial stem cell","level":3,"score":0.1985940933227539},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.10029691457748413},{"id":"https://openalex.org/C141071460","wikidata":"https://www.wikidata.org/wiki/Q40821","display_name":"Surgery","level":1,"score":0.06733658909797668}],"mesh":[],"locations_count":3,"locations":[{"id":"doi:10.1097/01.gox.0001018388.07743.4f","doi":"https://doi.org/10.1097/01.gox.0001018388.07743.4f","is_oa":true,"landing_page_url":"http://dx.doi.org/10.1097/01.gox.0001018388.07743.4f","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:11340419","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/11340419","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC11340419/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:e23d5f03214d443a83110ac1b205ed16","doi":null,"is_oa":false,"landing_page_url":"https://doaj.org/article/e23d5f03214d443a83110ac1b205ed16","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 S5, Pp 53-53 (2024)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1097/01.gox.0001018388.07743.4f","doi":"https://doi.org/10.1097/01.gox.0001018388.07743.4f","is_oa":true,"landing_page_url":"http://dx.doi.org/10.1097/01.gox.0001018388.07743.4f","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":[{"score":0.98580002784729,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4396919924.pdf","grobid_xml":"https://content.openalex.org/works/W4396919924.grobid-xml"},"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W4394964937","https://openalex.org/W2802090766","https://openalex.org/W4248040351","https://openalex.org/W3039828689","https://openalex.org/W4383619311","https://openalex.org/W2972902123","https://openalex.org/W4292064172","https://openalex.org/W4318763604","https://openalex.org/W4283395784","https://openalex.org/W2587169534"],"abstract_inverted_index":{"PURPOSE:":[0],"Arteriovenous":[1],"malformation":[2],"(AVM)":[3],"is":[4],"a":[5,19,33,112],"fast-flow":[6],"vascular":[7],"anomaly":[8],"characterized":[9],"by":[10],"abnormal":[11,197],"arterial":[12,71],"to":[13,57],"venous":[14],"shunts.":[15],"Extracranial":[16],"AVMs":[17],"contain":[18],"somatic":[20],"mutation":[21,46,66,184],"in":[22,122,178,185],"MAP2K1.":[23],"The":[24,182],"PURPOSE":[25],"of":[26,129,152,172,208,215,221],"this":[27],"study":[28],"was":[29,67,79,90,106,120],"to:":[30],"(1)":[31],"create":[32,52],"stable":[34],"MAP2K1":[35,45,64,131,174,183],"mutant":[36,93,123,142,157],"endothelial":[37,72],"cell":[38,145],"(EC)":[39],"line,":[40],"(2)":[41],"determine":[42],"how":[43],"the":[44,63,126,130,167,173,206,213,219],"affects":[47],"EC":[48],"behavior,":[49],"and":[50,54,85,94,103,115,138,143,161,169,195,211],"(3)":[51],"in-vitro":[53],"in-vivo":[55],"models":[56,202],"test":[58],"pharmacotherapy.":[59],"METHODS:":[60],"Utilizing":[61],"CRISPR-Cas9,":[62],"p.K57N":[65],"introduced":[68],"into":[69,100,205],"immortalized":[70],"cells":[73,124],"(teloHAECs).":[74],"Elevated":[75],"phosphorylated":[76],"ERK":[77],"(P-ERK)":[78],"tested":[80],"using":[81],"Western":[82],"Blot.":[83],"Bulk-RNAseq":[84],"differential":[86],"gene":[87,193],"expression":[88,151],"analysis":[89],"conducted":[91],"comparing":[92],"control":[95,144],"cells.":[96],"Cells":[97],"were":[98,109,147],"injected":[99],"immunodeficient":[101],"mice":[102],"implant":[104],"phenotype":[105],"characterized.":[107],"Models":[108],"treated":[110],"with":[111,156],"MEK":[113,164,216],"inhibitor":[114],"assessed.":[116],"RESULTS:":[117],"Increased":[118],"P-ERK":[119],"detected":[121],"confirming":[125],"activating":[127],"effects":[128,171],"mutation.":[132],"Differentially":[133],"expressed":[134],"vasculogenic,":[135],"cellular":[136],"adhesion,":[137],"inflammatory":[139],"genes":[140],"between":[141],"lines":[146],"identified,":[148],"including":[149,176],"increased":[150],"angiopoietin-2.":[153],"Murine":[154],"implants":[155],"ECs":[158],"displayed":[159],"malformed":[160],"dilated":[162],"vasculature.":[163],"inhibition":[165],"prevented":[166],"transcriptomic":[168],"histologic":[170],"mutation,":[175],"reduction":[177],"angiopoietin-2":[179],"production.":[180],"CONCLUSION:":[181],"our":[186],"model":[187],"activates":[188],"RAS/MEK":[189],"signaling,":[190],"stimulates":[191],"vasculogenic":[192],"expression,":[194],"forms":[196],"vascularized":[198],"lesions":[199],"in-vivo.":[200],"These":[201],"provide":[203],"insight":[204],"pathophysiology":[207],"human":[209],"AVM":[210],"support":[212],"efficacy":[214],"inhibitors":[217],"for":[218],"treatment":[220],"AVM.":[222]},"counts_by_year":[],"updated_date":"2026-11-06T12:05:46.655746","created_date":"2024-05-16T00:00:00"}
