{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T02:30:08Z","timestamp":1790303408711,"version":"4.1.0"},"reference-count":55,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,1,19]],"date-time":"2026-01-19T00:00:00Z","timestamp":1768780800000},"content-version":"vor","delay-in-days":18,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100003335","name":"Ministry of Education, Youth and Science","doi-asserted-by":"publisher","award":["LM202303"],"award-info":[{"award-number":["LM202303"]}],"id":[{"id":"10.13039\/501100003335","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["HemaSphere"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Diamond\u2013Blackfan anemia (DBA) is a rare bone marrow failure syndrome accompanied by cardiovascular, skeletal, and urogenital abnormalities. Most of the affected individuals carry mutations in ribosomal proteins, including RPS19, a component of the 40S ribosomal subunit. We developed a transgenic\n                    <jats:italic>Rps19<\/jats:italic>\n                    mouse model harboring a deletion of conserved R67 that displays a variable phenotype ranging from mild hematopoietic defects to severe anemia and a set of other skeletal, muscular, and cardiac abnormalities with shorter survival. This mouse model exhibited an activation of the p53 signaling pathway in red blood cell committed hematopoietic stem and progenitor cells, affecting erythroid lineage development. Competitive transplantation assays using\n                    <jats:italic>Rps19<\/jats:italic>\n                    <jats:sup>\n                      <jats:italic>R67\u2206<\/jats:italic>\n                    <\/jats:sup>\n                    bone marrow progenitor cells confirmed that short\u2010term repopulating hematopoietic stem cells (HSCs) and their progenitor lineages were affected, while their differentiation was rescued after deletion of the tumor suppressor\n                    <jats:italic>Trp53<\/jats:italic>\n                    .\n                    <jats:italic>Rps19<\/jats:italic>\n                    <jats:sup>\n                      <jats:italic>R67\u2206<\/jats:italic>\n                    <\/jats:sup>\n                    mutation leads to pre\u2010ribosomal RNA (pre\u2010rRNA) accumulation coupled with activation of p53, even at relatively immature hematopoietic stages. In conclusion, we present a mouse model that represents a powerful tool for exploring new therapeutic options for the treatment of ribosomal disorders, including DBA.\n                  <\/jats:p>","DOI":"10.1002\/hem3.70302","type":"journal-article","created":{"date-parts":[[2026,1,19]],"date-time":"2026-01-19T11:21:59Z","timestamp":1768821719000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["<i>Rps19<\/i>\n                    <sup>R67\u2206<\/sup>\n                    mutation creates a model of Diamond\u2013Blackfan anemia and reveals downstream mediators of p53 pathway"],"prefix":"10.1002","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0267-4570","authenticated-orcid":false,"given":"Juraj","family":"Kokavec","sequence":"first","affiliation":[{"name":"Laboratory of Haematooncology and Stem Cells Biotechnology and Biomedicine Center of the Academy of Sciences and Charles University in Vestec 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