{"id":"https://openalex.org/W4310093507","doi":"https://doi.org/10.1182/blood-2022-167359","title":"DNMT3A/TET2 Mutant Clonal Hematopoiesis in Vexas Syndrome Results in DNA Hypomethylation and Transcriptional Activation of WT1 and MPL Oncogenic Pathways","display_name":"DNMT3A/TET2 Mutant Clonal Hematopoiesis in Vexas Syndrome Results in DNA Hypomethylation and Transcriptional Activation of WT1 and MPL Oncogenic Pathways","publication_year":2022,"publication_date":"2022-11-15","ids":{"openalex":"https://openalex.org/W4310093507","doi":"https://doi.org/10.1182/blood-2022-167359"},"language":"en","primary_location":{"id":"doi:10.1182/blood-2022-167359","doi":"https://doi.org/10.1182/blood-2022-167359","is_oa":false,"landing_page_url":"https://doi.org/10.1182/blood-2022-167359","pdf_url":null,"source":{"id":"https://openalex.org/S200071133","display_name":"Blood","issn_l":"0006-4971","issn":["0006-4971","1528-0020"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Blood","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5033910096","display_name":"Jenna A. Fernandez","orcid":"https://orcid.org/0000-0002-0190-8673","observed_orcids":["https://orcid.org/0000-0002-0190-8673"]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jenna A. Fernandez","raw_affiliation_strings":["1Division of Hematology, Mayo Clinic, Rochester, MN"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1Division of Hematology, Mayo Clinic, Rochester, MN","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086126385","display_name":"Bhavisha A. Patel","orcid":"https://orcid.org/0000-0002-2974-7701","observed_orcids":["https://orcid.org/0000-0002-2974-7701"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210106489","display_name":"National Heart, Lung, and Blood Institute","ror":"https://ror.org/012pb6c26","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210106489"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Bhavisha A. Patel","raw_affiliation_strings":["2Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"2Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210106489"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087031321","display_name":"Fernanda Gutierrez\u2010Rodrigues","orcid":"https://orcid.org/0000-0003-3116-4588","observed_orcids":["https://orcid.org/0000-0003-3116-4588"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210106489","display_name":"National Heart, Lung, and Blood Institute","ror":"https://ror.org/012pb6c26","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210106489"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Fernanda Gutierrez-Rodrigues","raw_affiliation_strings":["2Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"2Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210106489"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064995076","display_name":"Yael N. Kusne","orcid":"https://orcid.org/0000-0002-7325-8454","observed_orcids":["https://orcid.org/0000-0002-7325-8454"]},"institutions":[{"id":"https://openalex.org/I4210125099","display_name":"Mayo Clinic in Arizona","ror":"https://ror.org/03jp40720","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723","https://openalex.org/I4210125099"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Yael Kusne","raw_affiliation_strings":["3Division of Hematology and Medical Oncology, Mayo Clinic, Phoenix, AZ"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"3Division of Hematology and Medical Oncology, Mayo Clinic, Phoenix, AZ","institution_ids":["https://openalex.org/I4210125099"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5041873381","display_name":"Terra Lasho","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Terra Lasho","raw_affiliation_strings":["1Division of Hematology, Mayo Clinic, Rochester, MN"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1Division of Hematology, Mayo Clinic, Rochester, MN","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5078452873","display_name":"Christy M. Finke","orcid":"https://orcid.org/0009-0006-2843-9025","observed_orcids":["https://orcid.org/0009-0006-2843-9025"]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Christy Finke","raw_affiliation_strings":["1Division of Hematology, Mayo Clinic, Rochester, MN"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1Division of Hematology, Mayo Clinic, Rochester, MN","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013000204","display_name":"Matthew J. Koster","orcid":"https://orcid.org/0000-0002-2895-6755","observed_orcids":["https://orcid.org/0000-0002-2895-6755"]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Matthew Koster","raw_affiliation_strings":["4Division of Rheumatology, Mayo Clinic, Rochester, MN"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"4Division of Rheumatology, Mayo Clinic, Rochester, MN","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5012298768","display_name":"Abhishek Avinash Mangaonkar","orcid":"https://orcid.org/0000-0003-2458-9887","observed_orcids":["https://orcid.org/0000-0003-2458-9887"]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Abhishek A. Mangaonkar","raw_affiliation_strings":["1Division of Hematology, Mayo Clinic, Rochester, MN"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1Division of Hematology, Mayo Clinic, Rochester, MN","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002643270","display_name":"Naseema Gangat","orcid":"https://orcid.org/0000-0002-9104-6172","observed_orcids":["https://orcid.org/0000-0002-9104-6172"]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Naseema Gangat","raw_affiliation_strings":["1Division of Hematology, Mayo Clinic, Rochester, MN"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1Division of Hematology, Mayo Clinic, Rochester, MN","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047878379","display_name":"Kenneth J. Warrington","orcid":"https://orcid.org/0000-0001-7708-2487","observed_orcids":["https://orcid.org/0000-0001-7708-2487"]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Kenneth Warrington","raw_affiliation_strings":["4Division of Rheumatology, Mayo Clinic, Rochester, MN"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"4Division of Rheumatology, Mayo Clinic, Rochester, MN","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5084686872","display_name":"Kaaren K. Reichard","orcid":"https://orcid.org/0000-0001-5439-0778","observed_orcids":["https://orcid.org/0000-0001-5439-0778"]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Kaaren K. Reichard","raw_affiliation_strings":["5Division of Hematopathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"5Division of Hematopathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027545918","display_name":"Horatiu Olteanu","orcid":"https://orcid.org/0000-0001-5783-4485","observed_orcids":["https://orcid.org/0000-0001-5783-4485"]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Horatiu Olteanu","raw_affiliation_strings":["6Mayo Clinic, Rochester, MN"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"6Mayo Clinic, Rochester, MN","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5088519611","display_name":"Peter C. Grayson","orcid":"https://orcid.org/0000-0002-8269-9438","observed_orcids":["https://orcid.org/0000-0002-8269-9438"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210087962","display_name":"National Institute of Arthritis and Musculoskeletal and Skin Diseases","ror":"https://ror.org/006zn3t30","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210087962"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Peter C. Grayson","raw_affiliation_strings":["7Vasculitis Translational Research Program, National Institute of Arthritis, Musculoskeletal, and Skin Diseases. National Institutes of Health, Bethesda, MD"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"7Vasculitis Translational Research Program, National Institute of Arthritis, Musculoskeletal, and Skin Diseases. National Institutes of Health, Bethesda, MD","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210087962"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072063614","display_name":"Neal S. Young","orcid":"https://orcid.org/0009-0007-0999-2519","observed_orcids":["https://orcid.org/0009-0007-0999-2519"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210106489","display_name":"National Heart, Lung, and Blood Institute","ror":"https://ror.org/012pb6c26","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210106489"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Neal S. Young","raw_affiliation_strings":["2Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"2Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210106489"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5053075978","display_name":"David B. Beck","orcid":"https://orcid.org/0000-0002-5884-6231","observed_orcids":["https://orcid.org/0000-0002-5884-6231"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I57206974","display_name":"New York University","ror":"https://ror.org/0190ak572","country_code":"US","type":"education","lineage":["https://openalex.org/I57206974"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"David B. Beck","raw_affiliation_strings":["8National Institutes of Heath, Bethesda, MD","9Center for Human Genetics and Genomics, New York University Grossman School of Medicine, New York, NY"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"8National Institutes of Heath, Bethesda, MD","institution_ids":["https://openalex.org/I1299303238"]},{"raw_affiliation_string":"9Center for Human Genetics and Genomics, New York University Grossman School of Medicine, New York, NY","institution_ids":["https://openalex.org/I57206974"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5072463255","display_name":"Mrinal M. Patnaik","orcid":"https://orcid.org/0000-0001-6998-662X","observed_orcids":["https://orcid.org/0000-0001-6998-662X"]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Mrinal M. Patnaik","raw_affiliation_strings":["1Division of Hematology, Mayo Clinic, Rochester, MN"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1Division of Hematology, Mayo Clinic, Rochester, MN","institution_ids":["https://openalex.org/I1330342723"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":6,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":2500,"currency":"USD","value_usd":2500},"apc_paid":null,"fwci":0.5469,"has_fulltext":false,"cited_by_count":4,"citation_normalized_percentile":{"value":0.68154158,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":96},"biblio":{"volume":"140","issue":"Supplement 1","first_page":"11410","last_page":"11411"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10309","display_name":"Acute Myeloid Leukemia Research","score":0.9154999852180481,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"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/T10309","display_name":"Acute Myeloid Leukemia Research","score":0.9154999852180481,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"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/T10269","display_name":"Epigenetics and DNA Methylation","score":0.07240000367164612,"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/T10222","display_name":"Genomics and Chromatin Dynamics","score":0.000699999975040555,"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/vexas-syndrome","display_name":"VEXAS syndrome","score":0.9639999866485596},{"id":"https://openalex.org/keywords/clonal-hematopoiesis","display_name":"clonal hematopoiesis","score":0.9539999961853027},{"id":"https://openalex.org/keywords/dnmt3a","display_name":"DNMT3A","score":0.8159999847412109},{"id":"https://openalex.org/keywords/tet2","display_name":"TET2","score":0.9980000257492065},{"id":"https://openalex.org/keywords/dna-hypomethylation","display_name":"DNA hypomethylation","score":0.9010000228881836},{"id":"https://openalex.org/keywords/dna-methylation","display_name":"DNA methylation","score":0.800000011920929},{"id":"https://openalex.org/keywords/wt1","display_name":"WT1","score":0.7839999794960022},{"id":"https://openalex.org/keywords/mpl","display_name":"MPL","score":0.984000027179718},{"id":"https://openalex.org/keywords/myelodysplastic-syndrome","display_name":"myelodysplastic syndrome","score":0.7599999904632568},{"id":"https://openalex.org/keywords/epigenetic-modifiers","display_name":"epigenetic regulators","score":0.7490000128746033},{"id":"https://openalex.org/keywords/dnmt-inhibitors","display_name":"DNMT inhibitors","score":0.6449999809265137},{"id":"https://openalex.org/keywords/autoinflammatory-disease","display_name":"autoinflammatory disease","score":0.5989999771118164},{"id":"https://openalex.org/keywords/somatic-mutations","display_name":"somatic mutations","score":0.6179999709129333},{"id":"https://openalex.org/keywords/ppm1d","display_name":"PPM1D","score":0.6240000128746033},{"id":"https://openalex.org/keywords/kras","display_name":"KRAS","score":0.7720000147819519},{"id":"https://openalex.org/keywords/tp53","display_name":"TP53","score":0.890999972820282},{"id":"https://openalex.org/keywords/myeloid-neoplasms","display_name":"myeloid neoplasms","score":0.46399998664855957}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6517945528030396},{"id":"https://openalex.org/C109159458","wikidata":"https://www.wikidata.org/wiki/Q919283","display_name":"Haematopoiesis","level":3,"score":0.5525271892547607},{"id":"https://openalex.org/C143065580","wikidata":"https://www.wikidata.org/wiki/Q3285695","display_name":"Mutant","level":3,"score":0.5167112350463867},{"id":"https://openalex.org/C502942594","wikidata":"https://www.wikidata.org/wiki/Q3421914","display_name":"Cancer research","level":1,"score":0.5162820219993591},{"id":"https://openalex.org/C190727270","wikidata":"https://www.wikidata.org/wiki/Q874745","display_name":"DNA methylation","level":4,"score":0.4870755970478058},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.46781301498413086},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4541964828968048},{"id":"https://openalex.org/C552990157","wikidata":"https://www.wikidata.org/wiki/Q7430","display_name":"DNA","level":2,"score":0.4463205635547638},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.3820720911026001},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.24472454190254211},{"id":"https://openalex.org/C28328180","wikidata":"https://www.wikidata.org/wiki/Q48196","display_name":"Stem cell","level":2,"score":0.21585509181022644},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.12373432517051697}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1182/blood-2022-167359","doi":"https://doi.org/10.1182/blood-2022-167359","is_oa":false,"landing_page_url":"https://doi.org/10.1182/blood-2022-167359","pdf_url":null,"source":{"id":"https://openalex.org/S200071133","display_name":"Blood","issn_l":"0006-4971","issn":["0006-4971","1528-0020"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Blood","raw_type":"journal-article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9763000011444092,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W4405042873","https://openalex.org/W4417015833","https://openalex.org/W4310106069","https://openalex.org/W4366606400","https://openalex.org/W3206076380","https://openalex.org/W4390734600","https://openalex.org/W4310159999","https://openalex.org/W4389892204","https://openalex.org/W4417007254","https://openalex.org/W4417015598"],"abstract_inverted_index":{"Introduction:":[0],"VEXAS":[1,70,81,98,114,358,399,417,430,445,572,585],"(vacuoles,":[2],"E1":[3],"enzyme,":[4],"X-linked,":[5],"autoinflammatory,":[6],"somatic)":[7],"syndrome":[8,115],"is":[9,226,529,634],"characterized":[10],"by":[11,177],"adult-onset":[12],"inflammatory":[13],"manifestations":[14],"with":[15,47,71,109,238,296,346,365,401,406,419,447,587,625],"predisposition":[16],"to":[17,75,91,131,214,342,373,385,429,597],"myelodysplastic":[18],"syndromes":[19],"(MDS).":[20],"Given":[21],"the":[22,77,133,146,156,192,205,368,374,387,444,456,464,546,551,554,575,615],"higher":[23],"median":[24,250,303,348,412,555],"age":[25,251,349,378,388],"at":[26],"onset":[27],"and":[28,45,106,125,172,179,189,271,287,309,325,332,474,476,484,516,541,550,611,613,622,627,632],"prevalent":[29],"inflammation,":[30],"approximately":[31],"60%":[32],"of":[33,61,113,232,243,350,367,435,463,468,494,497,503,510,518,571,578,629],"patient":[34],"have":[35,65],"concurrent":[36],"clonal":[37],"hematopoiesis":[38],"(CH)":[39],"involving":[40,269],"epigenetic":[41,78],"regulators":[42],"(epi),":[43],"DNMT3A":[44,270,306,402,540],"TET2,":[46],"a":[48,110,230,241,347,568,607],"negative":[49,576],"impact":[50,577],"on":[51,229,580],"survival":[52],"(see":[53,136],"accompanying":[54,137],"ASH":[55,138],"abstract).":[56,139],"DNMT":[57],"inhibitors,":[58],"considered":[59],"standard":[60],"care":[62],"for":[63,305,310,605],"MDS,":[64],"anecdotally":[66],"been":[67,84],"used":[68,213],"in":[69,80,94,97,217,247,264,283,293,390,398,443,460,488,491,531,567,591,595,619],"mixed":[72],"responses.":[73],"However,":[74],"date,":[76],"landscape":[79,135],"has":[82],"not":[83,414,536],"defined.":[85],"We":[86,393,534,562,582],"carried":[87],"out":[88],"this":[89,248,391],"study":[90],"assess":[92,537],"changes":[93,142,216,397,528,566],"DNA":[95,118,127,140,165,184,218,337,564],"methylation":[96,219,338,396,565],"syndrome.":[99],"Methods:":[100],"After":[101],"IRB":[102],"approval,":[103],"Mayo":[104],"Clinic":[105],"NIH":[107],"patients":[108,237,295,317,359,400,418,431,446,586,631],"confirmed":[111],"diagnosis":[112,242],"were":[116,143,186,212,245,262,291,440],"included.":[117],"was":[119,129,153,166,202,307,312,339,559],"extracted":[120],"from":[121],"blood":[122],"mononuclear":[123],"cells":[124,506],"error-corrected":[126],"sequencing":[128,525],"performed":[130,203],"define":[132],"CH":[134,260,281,405],"Methylation":[141],"identified":[144],"using":[145,155,168],"Illumina":[147],"Infinium":[148],"MethylationEPIC":[149,193],"BeadChip.":[150],"Conventional":[151],"bisulfite-treatment":[152],"completed":[154],"TrueMethyl":[157,182],"oxBS":[158],"Module":[159],"(Tecan":[160],"Genomics,":[161],"M\u00e4nnedorf,":[162],"Switzerland).":[163],"Briefly,":[164],"purified":[167],"magnetic":[169],"beads,":[170],"denatured,":[171],"underwent":[173],"bisulfite":[174],"conversion":[175],"followed":[176],"desulfonation":[178],"purification.":[180],"The":[181,209,302],"converted":[183],"samples":[185,548],"then":[187,394],"eluted":[188],"processed":[190],"through":[191],"BeadChip":[194],"array":[195],"protocol.":[196],"Subset-quantile":[197],"Within":[198],"Array":[199],"Normalization":[200],"(SWAN)":[201],"via":[204],"R":[206],"package":[207],"\"minfi\".":[208],"resultant":[210],"\u03b2-values":[211],"identify":[215],"(\u0394\u03b2)":[220],"between":[221,539],"groups.":[222],"Whole":[223],"transcriptome":[224],"RNAseq":[225,626],"currently":[227,382],"pending":[228,530],"subset":[231],"patients.":[233],"Results:":[234],"Fifty":[235],"male":[236],"VEXAS,":[239],"without":[240,408,432,599],"MDS":[244],"included":[246],"study;":[249],"70.5":[252],"years":[253,352],"(range:":[254],"48":[255],"-":[256,356],"89).":[257],"\"Typical":[258],"non-UBA1":[259],"mutations\"":[261],"seen":[263,292],"30":[265],"(60%)":[266,316],"patients,":[267,573],"predominantly":[268],"TET2":[272,275,311,404,542,556],"(DNMT3A":[273],"n=10,":[274],"n=8,":[276],"DNMT3A/TET2":[277],"n=6;":[278],"48%).":[279],"Subclonal":[280],"mutations":[282,421],"PPM1D":[284],"(N=2),":[285],"KRAS":[286],"TP53":[288],"(n=1":[289],"each)":[290],"4":[294],"variant":[297],"allele":[298],"fractions":[299],"(VAF)":[300],"<2%.":[301],"VAF":[304,558],"28%":[308],"2%,":[313],"respectively.":[314,336],"Thirty":[315],"had":[318,323,329,360,422],"UBA1Met41T":[319],"substitutions,":[320],"14":[321,532],"(28%)":[322],"Met41V":[324],"3":[326],"(8%)":[327],"each":[328],"Met41L":[330],"substitutions":[331],"splice":[333],"site":[334],"mutations,":[335],"first":[340],"compared":[341,372,395,428],"8":[343],"healthy":[344,375],"males,":[345],"59":[351],"(Age":[353],"range:":[354],"42":[355],"61).":[357],">2,800":[361],"differentially":[362,424,437],"methylated":[363,425,438],"CpGs,":[364],"77%":[366],"CpGs":[369,426,439],"being":[370,383],"hypermethylated":[371],"controls.":[376],"Additional":[377],"matched":[379],"controls":[380,633],"are":[381,589],"assessed":[384],"eliminate":[386],"bias":[389],"analysis.":[392],"and/or":[403],"those":[407,598],"(n=24":[409],"vs":[410],"n=36,":[411],"ages":[413],"significantly":[415],"different).":[416],"CH-epi":[420,448,489,579,588],">900":[423],"when":[427],"CH-epi.":[433,600],"Majority":[434],"these":[436,527],"hypomethylated":[441,457,592],"(79%)":[442],"(Figure":[449,522],"1A).":[450],"Ingenuity":[451],"pathway":[452],"analysis":[453,602],"demonstrated":[454],"that":[455,553,584],"loci":[458,487],"resulted":[459,490],"transcriptional":[461,492],"activation":[462,509],"following":[465],"pathways/genes;":[466],"apoptosis":[467],"peripheral":[469,511],"T":[470,505,512],"lymphocytes":[471,513],"(p=0.003,":[472],"EZR":[473],"MAPK8)":[475],"multiple":[477],"convergent":[478],"myeloid":[479],"neoplasm":[480],"pathways":[481],"(p<0.003,":[482],"WT1":[483],"MPL).":[485],"Hypermethylated":[486],"repression":[493],"cell":[495],"death":[496],"M0":[498],"macrophages":[499],"(p=0.0048,":[500],"IRF8),":[501],"expansion":[502],"gamma/delta":[504],"(p=0.008,":[507],"BTNL9),":[508],"(p=0.025,":[514],"MFN2)":[515],"aggregation":[517],"monocytes":[519],"(p=0.002,":[520],"BMP7)":[521],"1B).":[523],"RNA":[524],"confirming":[526],"cases.":[533],"did":[535],"differences":[538],"mutant":[543,557],"groups":[544],"given":[545],"smaller":[547],"size":[549],"fact":[552],"2%.":[560],"Conclusions:":[561],"demonstrate":[563],"large":[569],"cohort":[570],"exploring":[574],"survival.":[581,623],"show":[583],"enriched":[590],"CpG":[593],"sites":[594],"comparison":[596],"Pathway":[601],"suggest":[603],"roles":[604],"WT1,":[606],"critical":[608],"transcription":[609],"factor":[610],"oncogene":[612],"MPL,":[614],"platelet":[616],"thrombopoietin":[617],"receptor,":[618],"disease":[620],"biology":[621],"Integration":[624],"recruitment":[628],"additional":[630],"ongoing.":[635],"Figure":[636],"1View":[637,640],"largeDownload":[638,641],"PPTFigure":[639],"PPT":[642],"Close":[643],"modal":[644]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":1}],"updated_date":"2026-10-01T08:54:57.152042","created_date":"2022-11-30T00:00:00"}