| http://purl.uniprot.org/citations/26601269 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/26601269 | http://www.w3.org/2000/01/rdf-schema#comment | "Cis-element encyclopedias provide information on phenotypic diversity and disease mechanisms. Although cis-element polymorphisms and mutations are instructive, deciphering function remains challenging. Mutation of an intronic GATA motif (+9.5) in GATA2, encoding a master regulator of hematopoiesis, underlies an immunodeficiency associated with myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). Whereas an inversion relocalizes another GATA2 cis-element (-77) to the proto-oncogene EVI1, inducing EVI1 expression and AML, whether this reflects ectopic or physiological activity is unknown. We describe a mouse strain that decouples -77 function from proto-oncogene deregulation. The -77(-/-) mice exhibited a novel phenotypic constellation including late embryonic lethality and anemia. The -77 established a vital sector of the myeloid progenitor transcriptome, conferring multipotentiality. Unlike the +9.5(-/-) embryos, hematopoietic stem cell genesis was unaffected in -77(-/-) embryos. These results illustrate a paradigm in which cis-elements in a locus differentially control stem and progenitor cell transitions, and therefore the individual cis-element alterations cause unique and overlapping disease phenotypes."xsd:string |
| http://purl.uniprot.org/citations/26601269 | http://purl.org/dc/terms/identifier | "doi:10.1126/sciadv.1500503"xsd:string |
| http://purl.uniprot.org/citations/26601269 | http://purl.uniprot.org/core/author | "Gao X."xsd:string |
| http://purl.uniprot.org/citations/26601269 | http://purl.uniprot.org/core/author | "Zhang J."xsd:string |
| http://purl.uniprot.org/citations/26601269 | http://purl.uniprot.org/core/author | "Kong G."xsd:string |
| http://purl.uniprot.org/citations/26601269 | http://purl.uniprot.org/core/author | "Chang Y.I."xsd:string |
| http://purl.uniprot.org/citations/26601269 | http://purl.uniprot.org/core/author | "Johnson K.D."xsd:string |
| http://purl.uniprot.org/citations/26601269 | http://purl.uniprot.org/core/author | "Bresnick E.H."xsd:string |
| http://purl.uniprot.org/citations/26601269 | http://purl.uniprot.org/core/author | "Dewey C.N."xsd:string |
| http://purl.uniprot.org/citations/26601269 | http://purl.uniprot.org/core/author | "Hewitt K.J."xsd:string |
| http://purl.uniprot.org/citations/26601269 | http://purl.uniprot.org/core/author | "Prathibha R."xsd:string |
| http://purl.uniprot.org/citations/26601269 | http://purl.uniprot.org/core/author | "Ranheim E.A."xsd:string |
| http://purl.uniprot.org/citations/26601269 | http://purl.uniprot.org/core/author | "Sanalkumar R."xsd:string |
| http://purl.uniprot.org/citations/26601269 | http://purl.uniprot.org/core/date | "2015"xsd:gYear |
| http://purl.uniprot.org/citations/26601269 | http://purl.uniprot.org/core/name | "Sci Adv"xsd:string |
| http://purl.uniprot.org/citations/26601269 | http://purl.uniprot.org/core/pages | "e1500503"xsd:string |
| http://purl.uniprot.org/citations/26601269 | http://purl.uniprot.org/core/title | "Cis-regulatory mechanisms governing stem and progenitor cell transitions."xsd:string |
| http://purl.uniprot.org/citations/26601269 | http://purl.uniprot.org/core/volume | "1"xsd:string |
| http://purl.uniprot.org/citations/26601269 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/26601269 |
| http://purl.uniprot.org/citations/26601269 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/26601269 |
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| http://purl.uniprot.org/uniprot/#_B1ARB3-mappedCitation-26601269 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/26601269 |