| http://purl.uniprot.org/citations/32494068 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/32494068 | http://www.w3.org/2000/01/rdf-schema#comment | "Advances in genetics and sequencing have identified a plethora of disease-associated and disease-causing genetic alterations. To determine causality between genetics and disease, accurate models for molecular dissection are required; however, the rapid expansion of transcriptional populations identified through single-cell analyses presents a major challenge for accurate comparisons between mutant and wild-type cells. Here we generate mouse models of human severe congenital neutropenia (SCN) using patient-derived mutations in the GFI1 transcription factor. To determine the effects of SCN mutations, we generated single-cell references for granulopoietic genomic states with linked epitopes1, aligned mutant cells to their wild-type equivalents and identified differentially expressed genes and epigenetic loci. We find that GFI1-target genes are altered sequentially, as cells go through successive states of differentiation. These insights facilitated the genetic rescue of granulocytic specification but not post-commitment defects in innate immune effector function, and underscore the importance of evaluating the effects of mutations and therapy within each relevant cell state."xsd:string |
| http://purl.uniprot.org/citations/32494068 | http://purl.org/dc/terms/identifier | "doi:10.1038/s41586-020-2227-7"xsd:string |
| http://purl.uniprot.org/citations/32494068 | http://purl.uniprot.org/core/author | "Song B."xsd:string |
| http://purl.uniprot.org/citations/32494068 | http://purl.uniprot.org/core/author | "Zhang K."xsd:string |
| http://purl.uniprot.org/citations/32494068 | http://purl.uniprot.org/core/author | "Grimes H.L."xsd:string |
| http://purl.uniprot.org/citations/32494068 | http://purl.uniprot.org/core/author | "Salomonis N."xsd:string |
| http://purl.uniprot.org/citations/32494068 | http://purl.uniprot.org/core/author | "Serafin R.A."xsd:string |
| http://purl.uniprot.org/citations/32494068 | http://purl.uniprot.org/core/author | "Hay S."xsd:string |
| http://purl.uniprot.org/citations/32494068 | http://purl.uniprot.org/core/author | "Dwivedi P."xsd:string |
| http://purl.uniprot.org/citations/32494068 | http://purl.uniprot.org/core/author | "Way S.S."xsd:string |
| http://purl.uniprot.org/citations/32494068 | http://purl.uniprot.org/core/author | "Greis K.D."xsd:string |
| http://purl.uniprot.org/citations/32494068 | http://purl.uniprot.org/core/author | "Yu J.C."xsd:string |
| http://purl.uniprot.org/citations/32494068 | http://purl.uniprot.org/core/author | "Olsson A."xsd:string |
| http://purl.uniprot.org/citations/32494068 | http://purl.uniprot.org/core/author | "Myers K.C."xsd:string |
| http://purl.uniprot.org/citations/32494068 | http://purl.uniprot.org/core/author | "Kappes D.J."xsd:string |
| http://purl.uniprot.org/citations/32494068 | http://purl.uniprot.org/core/author | "Ferchen K."xsd:string |
| http://purl.uniprot.org/citations/32494068 | http://purl.uniprot.org/core/author | "Chetal K."xsd:string |
| http://purl.uniprot.org/citations/32494068 | http://purl.uniprot.org/core/author | "Chutipongtanate S."xsd:string |
| http://purl.uniprot.org/citations/32494068 | http://purl.uniprot.org/core/author | "Pham G."xsd:string |
| http://purl.uniprot.org/citations/32494068 | http://purl.uniprot.org/core/author | "Lutzko C."xsd:string |
| http://purl.uniprot.org/citations/32494068 | http://purl.uniprot.org/core/author | "Nazor K.L."xsd:string |
| http://purl.uniprot.org/citations/32494068 | http://purl.uniprot.org/core/author | "Mookerjee-Basu J."xsd:string |
| http://purl.uniprot.org/citations/32494068 | http://purl.uniprot.org/core/author | "Muench D.E."xsd:string |
| http://purl.uniprot.org/citations/32494068 | http://purl.uniprot.org/core/author | "Trump-Durbin L.R."xsd:string |