{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T13:12:39Z","timestamp":1789132359539,"version":"build-2803163510"},"reference-count":14,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2024,10,7]],"date-time":"2024-10-07T00:00:00Z","timestamp":1728259200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2024,10,7]],"date-time":"2024-10-07T00:00:00Z","timestamp":1728259200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100006668","name":"Fondo para la Investigaci\u00f3n Cient\u00edfica y Tecnol\u00f3gica","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100006668","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008392","name":"Fondation Nelia et Amadeo Barletta","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008392","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007365","name":"Fondazione IRCCS Policlinico San Matteo","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007365","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Br J Haematol"],"published-print":{"date-parts":[[2024,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Correct interpretation of the pathogenicity of germline\n                    <jats:italic>RUNX1<\/jats:italic>\n                    variants is essential for FPD\/AML diagnosis, clinical management and leukaemia surveillance. We report two families with clear FPD\/AML phenotypic features harbouring missense variants at RHD critical residue Gly168. Although classified as of unknown significance (VUS) by\n                    <jats:italic>RUNX1<\/jats:italic>\n                    \u2010specific curation guidelines, these variants should rather be considered likely pathogenic, as supported by computational tools, structural modelling and dysregulated platelet expression of RUNX1\u2010targets, adding Gly168 among amino acids currently recognised as mutational hotspots. Our data could help reduce the number of variants classified as VUS, providing evidence for updating\n                    <jats:italic>RUNX1<\/jats:italic>\n                    guidelines, thus improving FPD\/AML diagnosis.\n                  <\/jats:p>","DOI":"10.1111\/bjh.19776","type":"journal-article","created":{"date-parts":[[2024,10,8]],"date-time":"2024-10-08T01:29:53Z","timestamp":1728350993000},"page":"2315-2320","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Two novel families with\n                    <i>RUNX1<\/i>\n                    variants indicate glycine 168 as a new mutational hotspot: Implications for FPD\/AML diagnosis"],"prefix":"10.1111","volume":"205","author":[{"ORCID":"https:\/\/orcid.org\/0009-0001-2500-7191","authenticated-orcid":false,"given":"Laureano J.","family":"Kamiya","sequence":"first","affiliation":[{"name":"Hematology Research Division, Institute for Medical Research Alfredo Lanari, School of Medicine University of Buenos Aires (UBA)  Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5622-739X","authenticated-orcid":false,"given":"Serena","family":"Barozzi","sequence":"additional","affiliation":[{"name":"Medical Department IRCCS Policlinico San Matteo Foundation  Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5934-3030","authenticated-orcid":false,"given":"Federica","family":"Isidori","sequence":"additional","affiliation":[{"name":"IRCCS University Hospital of Bologna  Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-0285-9910","authenticated-orcid":false,"given":"Daiana","family":"Ganiewich","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular and Cellular Therapy Leloir Institute\u2010Institute for Biochemical Research of Buenos Aires (IIBBA)  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Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0403-9565","authenticated-orcid":false,"given":"Rosana F.","family":"Marta","sequence":"additional","affiliation":[{"name":"Hematology Research Division, Institute for Medical Research Alfredo Lanari, School of Medicine University of Buenos Aires (UBA)  Buenos Aires Argentina"},{"name":"Institute for Medical Research (IDIM) UBA\u2010National Scientific and Technical Research Council (CONICET)  Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2638-4308","authenticated-orcid":false,"given":"Federica","family":"Melazzini","sequence":"additional","affiliation":[{"name":"Medical Department IRCCS Policlinico San Matteo Foundation  Pavia Italy"},{"name":"Department of Internal Medicine University of Pavia  Pavia 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