| http://purl.uniprot.org/citations/20696915 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/20696915 | http://www.w3.org/2000/01/rdf-schema#comment | "Studies of mouse models of anemia have long provided fundamental insights into red blood cell formation and function. Here we show that the semidominant mouse mutation Nan ("neonatal anemia") carries a single amino acid change (E339D) within the second zinc finger of the erythroid Krüppel-like factor (EKLF), a critical erythroid regulatory transcription factor. The mutation alters the DNA-binding specificity of EKLF so that it no longer binds promoters of a subset of its DNA targets. Remarkably, even when mutant Nan and wild-type EKLF alleles are expressed at equivalent levels, the mutant form selectively interferes with expression of EKLF target genes whose promoter elements it no longer binds. This interference yields a distorted genetic output and selective protein deficiencies that differ from those seen in EKLF-heterozygous and EKLF-null red blood cells and presents a unique and unexpected mechanism of inherited disease."xsd:string |
| http://purl.uniprot.org/citations/20696915 | http://purl.org/dc/terms/identifier | "doi:10.1073/pnas.1004996107"xsd:string |
| http://purl.uniprot.org/citations/20696915 | http://purl.uniprot.org/core/author | "Peters L.L."xsd:string |
| http://purl.uniprot.org/citations/20696915 | http://purl.uniprot.org/core/author | "Siatecka M."xsd:string |
| http://purl.uniprot.org/citations/20696915 | http://purl.uniprot.org/core/author | "Sahr K.E."xsd:string |
| http://purl.uniprot.org/citations/20696915 | http://purl.uniprot.org/core/author | "Andersen S.G."xsd:string |
| http://purl.uniprot.org/citations/20696915 | http://purl.uniprot.org/core/author | "Bieker J.J."xsd:string |
| http://purl.uniprot.org/citations/20696915 | http://purl.uniprot.org/core/author | "Mezei M."xsd:string |
| http://purl.uniprot.org/citations/20696915 | http://purl.uniprot.org/core/date | "2010"xsd:gYear |
| http://purl.uniprot.org/citations/20696915 | http://purl.uniprot.org/core/name | "Proc Natl Acad Sci U S A"xsd:string |
| http://purl.uniprot.org/citations/20696915 | http://purl.uniprot.org/core/pages | "15151-15156"xsd:string |
| http://purl.uniprot.org/citations/20696915 | http://purl.uniprot.org/core/title | "Severe anemia in the Nan mutant mouse caused by sequence-selective disruption of erythroid Kruppel-like factor."xsd:string |
| http://purl.uniprot.org/citations/20696915 | http://purl.uniprot.org/core/volume | "107"xsd:string |
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