{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Korporaal A"],"funding":["Dutch Research Council (NWO)","ZonMw"],"pagination":["464-473"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7849558"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["106(2)"],"pubmed_abstract":["Haploinsufficiency for transcription factor KLF1 causes a variety of human erythroid phenotypes, such as the In(Lu) blood type, increased HbA2 levels, and hereditary persistence of fetal hemoglobin. Severe dominant congenital dyserythropoietic anemia IV (OMIM 613673) is associated with the KLF1 p.E325K variant. CDA-IV patients display ineffective erythropoiesis and hemolysis resulting in anemia, accompanied by persistent high levels of embryonic and fetal hemoglobin. The mouse Nan strain carries a variant in the orthologous residue, KLF1 p.E339D. Klf1Nan causes dominant hemolytic anemia with many similarities to CDA-IV. Here we investigated the impact of Klf1Nan on the developmental expression patterns of the endogenous beta-like and alpha-like globins, and the human beta-like globins carr"],"journal":["Haematologica"],"pubmed_title":["Hemoglobin switching in mice carrying the <i>Klf1<sup>Nan</sup></i> variant."],"pmcid":["PMC7849558"],"funding_grant_id":["93511036","40-00812-98-1212"],"pubmed_authors":["Gillemans N","von Lindern M","Heshusius S","Philipsen S","Cantu I","van den Akker E","van Dijk TB","Korporaal A"],"additional_accession":[]},"is_claimable":false,"name":"Hemoglobin switching in mice carrying the <i>Klf1<sup>Nan</sup></i> variant.","description":"Haploinsufficiency for transcription factor KLF1 causes a variety of human erythroid phenotypes, such as the In(Lu) blood type, increased HbA2 levels, and hereditary persistence of fetal hemoglobin. Severe dominant congenital dyserythropoietic anemia IV (OMIM 613673) is associated with the KLF1 p.E325K variant. CDA-IV patients display ineffective erythropoiesis and hemolysis resulting in anemia, accompanied by persistent high levels of embryonic and fetal hemoglobin. The mouse Nan strain carries a variant in the orthologous residue, KLF1 p.E339D. Klf1Nan causes dominant hemolytic anemia with many similarities to CDA-IV. Here we investigated the impact of Klf1Nan on the developmental expression patterns of the endogenous beta-like and alpha-like globins, and the human beta-like globins carr","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Feb","modification":"2026-06-06T22:47:59.567Z","creation":"2025-04-04T13:05:04.422Z"},"accession":"S-EPMC7849558","cross_references":{"pubmed":["32467144"],"doi":["10.3324/haematol.2019.239830"]}}