{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,25]],"date-time":"2025-10-25T12:52:34Z","timestamp":1761396754061,"version":"build-2065373602"},"reference-count":43,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2024,3,7]],"date-time":"2024-03-07T00:00:00Z","timestamp":1709769600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["32340874"],"award-info":[{"award-number":["32340874"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["anatomypubs.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Developmental Dynamics"],"published-print":{"date-parts":[[2024,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Anemia is defined as a lack of erythrocytes, low hemoglobin levels, or abnormal erythrocyte morphology. Diamond\u2010Blackfan anemia (DBA) is a rare and severe congenital hypoplastic anemia that occurs due to the dominant inheritance of a ribosomal protein gene mutation. Even rarer is a case described as Diamond\u2010Blackfan anemia like (DBAL), which occurs due to a loss\u2010of\u2010function <jats:italic>EPO<\/jats:italic> mutation recessive inheritance. The effective cures for DBAL are bone marrow transfusion and treatment with erythropoiesis\u2010stimulating agents (ESAs). To effectively manage the condition, construction of DBAL models to identify new medical methods or screen drugs are necessary.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Here, an <jats:italic>epoa<\/jats:italic>\u2010deficient mutant zebrafish called <jats:italic>epoa<\/jats:italic><jats:sup><jats:italic>szy8<\/jats:italic><\/jats:sup> was generated to model DBAL. The <jats:italic>epoa<\/jats:italic>\u2010deficiency in zebrafish caused developmental defects in erythroid cells, leading to severe congenital anemia. Using the DBAL model, we validated a loss\u2010of\u2010function <jats:italic>EPO<\/jats:italic> mutation using an in vivo functional analysis and explored the ability of ESAs to alleviate congenital anemia.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Together, our study demonstrated that <jats:italic>epoa<\/jats:italic> deficiency in zebrafish leads to a phenotype resembling DBAL. The DBAL zebrafish model was found to be beneficial for the in vivo assessment of patient\u2010derived <jats:italic>EPO<\/jats:italic> variants with unclear implications and for devising potential therapeutic approaches for DBAL.<\/jats:p><\/jats:sec>","DOI":"10.1002\/dvdy.703","type":"journal-article","created":{"date-parts":[[2024,3,7]],"date-time":"2024-03-07T05:54:15Z","timestamp":1709790855000},"page":"906-921","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Establishment of a <scp>Diamond\u2010Blackfan<\/scp> anemia like model in zebrafish"],"prefix":"10.1002","volume":"253","author":[{"given":"Yiming","family":"Ling","sequence":"first","affiliation":[{"name":"The Innovation Centre of Ministry of Education for Development and Diseases, School of Medicine South China University of Technology  Guangzhou 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